LIFE SPAN AND DISABILITY
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Summary
Obsessive-compulsive phenomena and symptoms in Asperger’s disorder
and High-functioning Autism: An evaluative literature review
Christian Fischer-Terworth, & Paul Probst
7
Cognitive proﬁles of genetic syndromes with Intellectual Disability
Santo Di Nuovo, & Seraﬁno Buono
31
Genetic syndromes causing Mental Retardation. Deﬁcit and surplus
in school performances and social adjustment compared
with cognitive abilities
Renzo Vianello, & Silvia Lanfranchi
43
Neurodevelopmental risk in preterm born babies
Filippo Dipasquale, & Paola Magnano
55
Verbal communication in right hemisphere brain damage
Valeria Abusamra, Hélène Côté, Yves Joanette, & Aldo Ferreres
69
International Literature Review on WHODAS II (World Health
Organization Disability Assessment Schedule II)
Stefano Federici, Fabio Meloni, & Alessandra Lo Presti
85
Life Span and Disability / XII, 1 (2009), 5-27
Obsessive-compulsive phenomena and symptoms
in Asperger’s disorder and High-functioning Autism:
An evaluative literature review
Christian Fischer-Terworth 1 & Paul Probst 2
Abstract
Although obsessional, ritualistic and stereotyped behaviors are a core feature of autistic disorders, substantial data related to those phenomena are
lacking. Ritualistic and stereotyped behaviours can be found in almost all
autistic patients. Additionally, cognitive able individuals with Asperger’s
disorder (AD) and High-Functioning Autism (HFA: deﬁned by the presence of IQ- levels > 70, Howlin, 2004, p. 6) mostly develop circumscribed,
often called obsessional interests and preoccupations. Results from recent
research indicate that autistic individuals frequently suffer from obsessions and compulsions according to DSM-IV criteria of Obsessive-Compulsive Disorder (OCD), being associated with marked distress and interference with daily life. OCD and autism share several similarities regarding symptom proﬁles and comorbidity. Etiologic overlap between the disorders becomes especially evident when focussing cognitive, neurobiological and genetic aspects. Autism-related obsessive-compulsive phenomena
(AOCP) have generally to be differentiated from OCD-symptoms, although there is no sharp borderline.
Keywords: Autistic disorders, Obsessive-compulsive phenomena, Asperger’s disorder, High Functioning Autism
* Received: 10 March 2009, Revised: 22 May 2009, Accepted: 22 May 2009.
1
2
Department of Psychology, University of Hamburg.
Department of Psychology, University of Hamburg, e-mail: [email protected]
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1. Introduction
Obsessional, ritualistic, stereotyped and repetitive behaviours are the
third core feature of autistic disorders, co-occurring with communicational
difficulties and problems in social interaction (DSM-IV: APA, 2000).
Autism-related obsessive-compulsive phenomena (AOCP) are part of the
clinical picture in all disorders of the autistic spectrum, including early
childhood autism (Kanner, 1943; Probst & Hillig, 2005), high-functioning
Autism (Howlin, 2004) and Asperger’s disorder (Asperger, 1944;
1944/1991). AOCP include all kinds of obsessional, compulsive, ritualistic,
stereotyped and repetitive behaviours.
According to the formal diagnostic criteria, social problems and the obsessive compulsive phenomena of Asperger’s disorder (AD) do not differ
from those found in Early Childhood Autism (ECA) and High-Functioning-Autism (HFA). The occurrence of social deﬁcits and obsessive compulsive phenomena in AD shows that typical autistic features also occur in individuals generally displaying higher cognitive abilities and better language
skills than autistic individuals (Baron- Cohen, 2004; Wing, 2005). Recent research results (Howlin, 2004) don’t provide a basis for a separate classiﬁcation of AD and HFA which also applies to obsessive compulsive phenomena (Cuccaro, Nations, Brinkley, Abramson, Wright , Hall et al., 2007). According to these ﬁndings only the development of better cognitive skills and
the degree of linguistic-communicative impairment can serve as a relevant
marker for differentiating AD/HFA from ECA (Baron-Cohen, 2004).
Obsessions and compulsions in Obsessive-Compulsive Disorders
(OCD) and Autism-related obsessive-compulsive phenomena (AOCP) are
often regarded as an overlapping class of behaviors, sharing a similar genetic, biobehavioral and neurobiological basis. Case-reports of OCDsymptoms in adolescents often contain descriptions of ritualized behaviours also being common in autism (Winter & Schreibman, 2002). On the
other hand AOCP often have different functions for the individual
(Kennedy, Meyer, Knowles, & Shukla, 2000) than the obsessions and compulsions of typical OCD (Hand, 1992).
Although cognitive deficits and language problems generally make it
difﬁcult to specify if autistic individuals display typical obsessions and compulsions (Baron-Cohen, 1989), recent studies show that many of them, including those with AD and HFA, have typical obsessions and compulsions
associated with marked distress (McDougle, Kresch, Goodman, Naylor,
Volkmar, Cohen, & Price, 1995; Russell, Mataix-Cols, Anson, & Murphy,
2005; Zandt, Prior, & Kyrios, 2006; Levallois, Béraud, & Jalenques, 2007).
Furthermore there is some evidence for the existence of a distinct OCD
subcategory being typical for autistic disorders (McDougle et al., 1995). Interestingly, recent research results show that there is a subgroup of OCD
patients with autistic features (Bejerot, 2007; Ivarsson & Melin, 2008) which
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Obsessive-compulsive phenomena and symptoms in Asperger’s disorder and High-functioning Autism
may present with autism- related social and communication- related difﬁculties (Cullen, Samuels, Grados, Landa, Bienvenu, Liang et al., 2008). Bejerot and Mörtberg (2009) showed and an increasing risk of being bullied at
school for children and adolescents with OCD associated with autistic features like low social competence.
Symptoms of obsessive-compulsive disorders are time-consuming obsessions and compulsions which cause marked distress and significant interference with daily life. Obsessions are recurrent thoughts, impulses or
images intruding repetitively into consciousness, often related to the fear of
a threatening event for which the patient feels responsible (APA, 2000).
Common obsessions are associated with fear of contamination, death or illness, other thoughts or impulses have an aggressive, sexual or blasphemous
content. Compulsions are irresistible rituals the individual has to carry out
over and over to reduce the anxiety or discomfort generated by the obsessions.
Frequent compulsions are ritualized washing, checking (e.g. stoves or
light switches), repeating (repeating words or sentences, rereading or
rewriting sentences), ordering, counting, questioning and hoarding (Rasmussen & Eisen, 1992). A diagnosis of autism with comorbid OCD requires
specific cognitive-behavioural (Lehmkuhl, Storch, Bodfish, & Geffken,
2008) and pharmacological interventions (Levallois, Beraud, & Jalenques,
2007) effectively targeting obsessions and compulsions, the core symptoms
of OCD. These special OCD interventions should be an integral part of a
treatment plan including interventions for the autistic disorder and comorbid conditions.
2. Method
To review the research literature about AOCP and OCD-symptoms in
autism, the online data bases “Medline”, “Psyndex” and “PsycInfo” were
screened for articles from 1977 to 2009. Relevant information was also
found in relevant psychiatric, psychological and educational handbooks
and single publications about Autism, Asperger’s disorder and Obsessivecompulsive disorders. When screening the online data bases, the search
terms “autism” and “Asperger” were combined either with “OCD”, “compulsions”, “obsessions”, “obsessive compulsive”, “rituals”, “stereotypies”
and “repetitive”. In the online research the relevant articles containing descriptions, analyses and classiﬁcation of obsessive-compulsive symptoms in
autistic disorders were found. The selected literature consists of reviews
and studies about phenomenological, genetic and etiologic overlap areas of
OCD and autism, analyses of stereotyped behaviour and therapy studies
and three studies especially focusing on obsessions and compulsions in
autistic disorders.
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3 Autism and Obsessive-compulsive Disorder: phenomenological
and etiological overlap
3.1 Symptoms
Less excessive variants of repetitive behaviours in OCD and autism can
also be found in typically developing children (Militerni, Bravaccio, Falco,
Fico, & Palermo, 2002; Greaves, Prince, Evans, & Charman, 2006). Ritualized behaviours like bedtime rituals, insistence on sameness or ritualized
play mostly peak at the age between 2 and 4 and decrease with growing age
(Evans, Leckman, Carter, Reznick , Henshaw, King, & Pauls, 1997). Motor
stereotypies like nail biting or rocking often occur in periods of concentration, excitement or boredom (Tröster, 1994). In typical development ritualized behaviors tend to change over time which is the case in OCD and
autism as well (Winter & Schreibman, 2002). Rapoport (1989) asks if the
ritualized play of a four- year- old with e.g. a string could be his individual
variant of a washing or checking compulsion (Winter & Schreibman, 2002).
People with OCD and autistic individuals display compulsive behaviour,
obsessive insistence on sameness, repetitive movements, a strong need for
symmetry and certain principles of ordering (Winter & Schreibmann, 2002;
Zandt et al., 2006). Ego-dystonic OCD-symptoms have generally to be separated from autism-related enjoyable “obsessional” interests (Russell et al.
2005; South, Ozonoff, & McMahon, 2005), although the distinction remains
unclear (Cath, Ran, Smit, van Balkom, & Comijs, 2008).
3.2 Patterns of Comorbidity
OCD and autistic disorders share a similar pattern of comorbid conditions like anxiety disorders, affective disorders, tic disorders (Rasmussen &
Eisen, 1992; Howlin, 2004) or personality disorders (Bejerot, Nylander, &
Lindström, 2001). Anxiety in autism (Gillott, Furniss,& Walter, 2001) is often triggered by typical autism–related problems like sensory overload or
the interruption of rituals (Samet, 2006). Sensory overload can be viewed as
a typical autism- related trigger for anxiety, whereas the function of rituals
to reduce anxiety is similar but not identical in OCD (DSM-IV:APA, 2000).
Concomitant specific phobias (Rasmussen & Eisen, 1992; Leyfert et al.,
2006) social phobia (Cath et al., 2008) and separation anxiety (Bhardwaj,
Agarval & Sitholey, 2005; Nestadt et al., 2003) are common in OCD and
ASD. In contrast to earlier findings, comorbidity with schizophrenia and
other psychotic conditions is rare in Autism (Howlin, 2004) and OCD
(Frommhold, 2006). Interestingly, however, there is overlap between both
AD/HFA and OCD with schizotypical symptoms and personality features
(Bejerot, 2007). The personality style of many AD/HFA individuals has
much in common with schizotypical personality features (reviewed by Andresen & Maß, 2001), especially regarding bizarre fantasies and interests,
eccentric behaviour, metaphoric and stereotypal use of language, social and
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Obsessive-compulsive phenomena and symptoms in Asperger’s disorder and High-functioning Autism
communicational deficits (Esterberg, Trotman, Brasfield, Compton, &
Walker, 2008). Also certain subcategories of OCD are more strongly related to schizotypical symptoms than to other anxiety disorders (Sobin, Blundell, Weiller, Gavigan, Haiman, & Karayiorgou, 2000). Like in tic-related
OCD, a broad spectrum of clinical manifestations of comorbid tic disorders
can also be found in autism (Ringman & Jankovic, 2000). Another condition frequently co-occurring with both OCD (Masi, Millepiedi, Mucci,
Bertini, Pfanner, & Arcangeli, 2006) and autism (Leyfert, Folstein, Bacalman, Davis , Dinh, Morgan et al., 2006) is Attention deficit Hyperactivity
Disorder (ADHD), especially being prevalent in children and adolescents.
Eating disorders like anorexia nervosa are a frequent comorbid condition
of OCD (Kaye, Bulik, Thornton, Barbarich, & Masters, 2004) also being associated with autistic disorders, especially with AD/HFA (Jörgensen, 1994;
Fisman, Steele, Short, Byrne, & Lavallee, 1996).
3.3 Etiological overlap
OCD and autism both have a neurobiological basis (Winter & Schreibman, 2002). Neuroimaging studies show voluminetric and structural abnormities in the cerebellum, the frontal lobe, the hippocampus, the amygdala
and the corpus callosum of autistic individuals (Herbert, Ziegler, Deutsch,
O’Brien, Lange, Bakardjiev et al., 2003; Baron-Cohen, 2004; Boucher, Cowell, Howard, Broks, Farrant, Roberts, & Mayes, 2005; Boger-Meggido, Shaw,
Friedman, Sparks, Artru, Giedd et al., 2006). Reports of a sudden onset of
OCD symptoms following brain injury and infections show that OCD has a
neurological basis (Steketee & Pigott, 2006, p. 53). Especially the effectiveness of serotonergic antidepressants and cognitive-behavioural treatment
being visible in PET (Schwartz, Martin, & Baxter, 1992), SPECT and MRI
scans strongly contributed to the conception of neurobiological disease
models (Steketee & Pigott, 2006).
Neurobiological findings in OCD and autism show similarities which
might be relevant regarding obsessive compulsive phenomena (Winter &
Schreibman, 2002). Patterns of familiar interaction, educational styles or
other external stressors can contribute to exarcerbations, improvements or
changes in both AOCP (Howlin, 2004) and OCD-symptoms (Probst, Asam,
& Otto, 1979).A solid social background and the involvement in productive
activities diminishes the dependence on stereotyped and ritualized behaviors in OCD (Schwartz & Beyette, 1997) and autistic disorders as well
(Howlin, 2004, p. 137).
3.3.1 Cognitive aspects
Similar deficits in information processing might underlie OCD and
autism (Winter & Schreibman, 2002). According to several authors local information processing is preferred to global processing in autism and OCD.
Additionally, impairment in the executive functions has been noted in
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OCD and different disorders of the autistic spectrum (Frith, 1989, 1992;
Russell et al., 2005). The preference of local information processing causes
the individual to focus attention on single elements of the environment
which can lead to stereotypy, rituals and narrow interests (Frith, 1989,
1992). In OCD individuals are often internally forced to gain control over a
small part of their environment with the attention focussed on dysfunctional thoughts and urges (Schwartz et al., 1992). An internal signal automatically terminating repetitive behaviour from a central processing unit seems
to be lacking in OCD (Hoffmann & Hofmann, 2004) and ASD (Frith, 1989,
1992). Delorme, Gousse, Roy, Trandafir, Mathieu, Mouren-Simeoni et al.
(2006) discuss a possible common endophenotype related to executive dysfunctions commonly associated with OCD and autism which may even be
related to repetitive behavior (Zandt, Prior, & Kyrios, 2009). According to
the cognitive-behavioural model of OCD (Salkovskis, Forrester, &
Richards, 1997) primary neutral thoughts get ﬁlled with feelings of anxiety,
disgust and/or guilt which increases their intrusiveness. Compulsions are
carried out to reduce these emotions for a short period of time which reinforces the intrusiveness of the thought. As Russell et al. (2005) state, cognitive styles being typical for autistic individuals can also contribute to a speciﬁc way of giving value to those thoughts.
Deﬁcits in autonomous habituation processes, possibly being associated
with amygdala dysfunction (Amaral & Corbett, 2002; Steketee & Pigott,
2006), could serve as an explanation for the obsessive resistance against
change in autism and OCD. In autistic persons minimal environmental
changes can trigger strong anxiety and panic attacks (Samet, 2006), whereas OCD-patients often panic when their rituals are not carried out “appropriately” (Rasmussen & Eisen, 1992). The persistent engagement in rigid
obsessive-compulsive behaviours might serve as a protection against new
stimuli being experienced as threatening.
3.3.2 Neuroanatomical and neurobiochemical overlap
Several authors state that dysfunctions in cortico-striatal-thalamic pathways are involved in the pathogenesis of autism (Damasio & Maurer, 1978)
and are a crucial element of the neuronal circuitry underlying OCD
(Schwartz et al., 1992). Abnormities in speciﬁc areas of the fronto-striatal
system cause changes of adaptive responses to environmental stimuli, especially basal ganglia dysfunctions lead to repetitive and rigid behaviours
(Bradshaw & Sheppard, 2000). MRI-scans of the basal ganglia in autism
and OCD patients show enlarged volumina of the nucleus caudatus being
associated with compulsive rituals and motor mannerisms (Sears, Vest, Mohamed, Bailey, Ramson, & Piven, 1999; Hollander, Anagnostou, Chaplin,
Esposito, Haznedar, Licalzi, Wassermann et al., 2005). A lack of basal-ganglia-modulated cortical inhibition can lead to hyperactivity in the orbitofrontal cortex. As the orbito-frontal cortex is overactive, flexible behav12
Obsessive-compulsive phenomena and symptoms in Asperger’s disorder and High-functioning Autism
ioural responses to thoughts and urges are impaired (Schwartz et al., 1992;
Schwartz & Beyette, 1997). As the amygdala plays a crucial role in the modulation of anxiety and fear (Wand, 2005), metabolic changes in the amygdalae of autistic individuals can lead to phobias and anxiety (Amaral &
Corbett, 2002). Also in OCD the amygdala has been found to be overactive
(Steketee & Pigott, 2006, p. 55). Reduced amygdala volumes have already
been associated with rigid and compulsive behaviours and narrow interests
(Dziobek, Fleck, Rogers, Wolf, & Convit, 2006).
Imbalances of several neurotransmitters like serotonin and dopamine
are more or less involved in the pathogenesis of autism and OCD (GrossIsseroff, Hermesh, & Weizman, 2001; Steketee & Pigott, 2006, p. 59).
Serotonergic dysfunction is a crucial element in the etiology of OCD
(Baumgarten & Grozdanovic, 1998) and has also been reported in the literature about autism (Winter & Schreibman, 2002). Serotonin re-uptake inhibitors (SSRI) have not only been shown to be effective in OCD (Greist,
Jefferson, & Kobak, 1995), in some cases they can also improve AOCP
(Levallois et al., 2007) and other autism-related symptoms like social
deﬁcits and aggression (Howlin, 2004, p. 290). Additionally, family studies
have shown mutations of the serotonin transporter gene in both disorders
(Ozaki et al., 2003; Wendland, DeGuzman, McMahon, Rudnick, DeteraWadleigh, & Murphy, 2008). The property of the dopamine-agonists LDopa and amphetamines of inducing stereotyped behaviour (Ricciardi &
Hurley, 1990) implies the involvement of dopaminergic pathways in stereotypal behaviour. Also the efﬁcacy of dopamine-antagonist antipsychotics in
reducing tic-like compulsions and some classes of stereotypal behaviour,
can serve as evidence for the involvement of the dopaminergic system into
autism (Howlin, 2004; Levallois et al., 2007) and tic-related OCD (McDougle, 1992), also the role of nicotinic acetylcholine-receptors both in
OCD (Pasquini, Garavini, & Biondi, 2005) and autism (Lipiello, 2006) is being investigated.
3.3.3 Genetic similarities
The occurrence of OCD in families can predict a genetic vulnerability
for autism. In comparison with normal controls motor tics, OCD symptoms,
anxiety disorders and depression run signiﬁcantly more often in families of
autistic patients, while there is evidence for the transmission of a broad phenotype (Bolton, Pickles, Murphy, & Rutter, 1998; Wendland et al., 2008).
OCD symptoms in parents are often positively correlated with strong
repetitive behaviours in autistic children (Hollander, King, Delaney, Smith,
& Silverman, 2003), e.g. the obsessive insistence in sameness (Abramson,
Ravan, Wright, Wieduwilt, Wolpert, Donnelly et al., 2005). Furthermore,
OCD-patients display autism-like communicative impairment more often
than individuals with depressive disorders (Bolton et al., 1998) and tend to
have autism- related personality features in several cases (Bejerot et al.,
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2001). Research results from molecular genetics indicate genetic links between OCD and autism as well (Hollander et al., 1999; Ozaki et al., 2003;
Fontenelle, Mendlovicz, Bezerra de Menezes, dos Santos Martins, &
Verisano, 2004).
4. Obsessive-compulsive phenomena in autism
4.1 Classiﬁcation
According to DSM-IV-criteria (APA, 2000) Autism- related obsessivecompulsive phenomena (AOCP) comprise (a) the excessive involvement
into one or more circumscribed special interests (b) the engagement in dysfunctional, compulsive rituals triggering anxiety of change when being interrupted (c) stereotyped and repetitive motor mannerisms (d) anxious insistence in sameness.
OCD is characterized by the following features: (a) The occurrence of
repetitive and intrusive obsessions and compulsions causing anxiety and/or
discomfort. (b) The thoughts and behaviours are generally recognized as inappropriate (in the category OCD with poor insight symptoms haven’t necessarily to be experienced as ego-dystonic) (c) Individuals make an effort
to resist the obsessions and compulsions. (d) The obsessions and compulsions must cause substantial functional impairment. Rituals are carried out
to reduce anxiety and/or discomfort or to prevent a potentially threatening
event (APA, 2000).
Between AOCP and OCD-Symptoms there are similarities and differences as well (Hashimoto, 2007). Turner (1997) classifies obsessions and
compulsions as belonging to AOCP. Although the involvement in special
interests often has an obsessional character, AOCP- related preoccupations
are not the same as the obsessions of OCD. Baron-Cohen and Wheelwright
(1999) regard those obsessions as an ego- syntonic subtype of OCD (also
see Fontenelle et al., 2004). AOCP are generally ego- syntonic as they are
not experienced as inappropriate (Baron- Cohen & Wheelwright, 1999).
Obsessional interests normally do not trigger anxiety or guilt, as they are often accompanied by feelings of euphoria (Jörgensen, 1994, p. 55).
Other rituals in autism, however, can resemble the compulsions of OCD,
as they are carried out to reduce anxiety or to prevent threatening events.According to Joliffe et al. (1992) rituals in autism serve as a structuring element
in a world experienced as chaotic. Routine, the recognition of regular patterns, temporal structuring and rituals can help to reduce anxiety and feelings
of confusion triggered by sensory overload (see Howlin, 2004, p. 137).
The idiosyncratic stereotypies of autism, reaching from simple reflexlike actions to complex movement patterns sometimes resemble tic- related OCD symptoms (Rasmussen & Eisen, 1992). Stereotypies are often triggered by certain stimuli (Gritti, Bove, Di Sarno, D’Addio, Chiapparo, &
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Obsessive-compulsive phenomena and symptoms in Asperger’s disorder and High-functioning Autism
Bove, 2003) and may indicate distress or hidden anxieties (Howlin, 2004, p.
144). AOCP are not necessarily associated with functional impairment, although this is often the case.
4.2 Autism-related obsessive-compulsive phenomena (AOCP)
According to Lam, Bodﬁsh and Piven (2008) there is considerable structure within repetitive behaviors in autism being differentially related to
subject characteristics and familiality. Using exploratory factor analysis the
authors identiﬁed three distinct factors related to AOCP: (a) repetitive motor behaviors (b) insistence on sameness and (c) circumscribed interests .
“Repetitive motor behaviors” were found to be associated with a variety
of subject characteristics such as IQ or age. Like “insistence of sameness”
they are associated with social and communication impairments, whereas
circumscribed interests appeared to be independent of subject characteristics. Based on sib-pair correlations, insistence on sameness and circumscribed interests and circumscribed interests appear to be familial. According to Lam et al. (2008) the presence of multiple forms of AOCP in an individual is associated with more impairment in the social and communication
domains, suggesting a more severe autistic disorder.
4.2.1 Circumscribed Interests
Circumscribed interests often appearing obsessional and bizarre, are
common in AD/HFA.The preoccupation often becomes so dominant in the
individuals’ lives that other interests and duties are neglected (Jörgensen,
1994; Howlin, 2004). Special interests can be linked with special abilities
and differ from the other categories of AOCP (South et al., 2005; Lam et al.,
2008). Individuals being fascinated by the subject of their interest, commonly acquire great knowledge in a special, circumscribed ﬁeld mostly having to do with technical aspects of objects and things (Baron-Cohen &
Wheelwright, 1999). One individual collects exact information about the
organization of seat systems in trains, another memorizes exactly timetables of arriving and departing planes and a third one may know in detail all
types of vacuum cleaners. The interests are often dysfunctional, senseless
and without any connection to a certain purpose, while in other cases autistic people can use their knowledge and talents in a job (see Asperger,
1944/1991; Jörgensen, 1994; Howlin, 2004).
4.2.2 Stereotypies
Stereotyped movements (Bodﬁsh, Symons, Parker, & Lewis, 2000) occur
more frequently in autistic individuals than in those with other developmental disorders. Stereotypies like gazing at objects and ﬁngers rocking, ﬁnger twitching or self-injuring behaviours are frequently triggered by minimal changes in environment (Goldman, Wang, Salgado, Greene, Kim, &
Rapin, 2009), daily routine, feelings of emptiness, boredom or inadequate
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stimulation (Kennedy et al., 2000). Stereotyped behaviour can have multiple functions (Cunningham & Schreibman, 2008), often being associated
with “narrowing or widening the autistic barrier” (Gritti et al., 2003). The
behaviours and movements which tend to exacerbate under conditions of
stress, can have sensory or social function (Cunningham & Schreibman,
2008), sometimes they can be anxiety-or tension-reducing (Howlin, 2004,
pp. 144) or reveal inner conflicts (Tinbergen & Tinbergen, 1984, p. 86). In
other cases stereotyped movements serve to avoid managing tasks or to
arouse the attention of others. Self-injurious behaviour can have multiple
functions, e.g. the one of self- stimulation in individuals who only “feel
themselves” when experiencing physical pain (Kennedy et al., 2000, p. 560).
4.3 Transition from AOCP to obsessions and compulsions
AOCP tend to become more complex with growing age, especially when
there is a high intellectual potential. In the research literature there are descriptions of cases showing mixtures and transitions between AOCP and
typical OCD-symptoms. The permanent verbalization of special interests
often includes excessive ruminating about the special topic, where euphoria
can change into anxiety (Howlin, 2004; Fontenelle et al., 2004).
The excessive collecting and hoarding of objects like stones, CDs or
books is a characteristic activity of autistic individuals. Collections are often
arranged in elaborate catalogues containing precise numbering and data
systems (Howlin, 2004, p. 141). The collecting passion of autistic individuals
can convert into OCD-speciﬁc hoarding compulsions, when collecting and
hoarding is associated with distress for the individual and/or the family
members. Apartments of hoarders are often overloaded with useless objects towards which the individual is emotionally attached to in an unusual
intensity. Patients with compulsive hoarding are extremely anxious to
throw things away and feel excessive responsibility for keeping them
(Schwartz & Beyette, 1997, p. 29). Fascination and anxiety can also be entangled in regard to obsessional interests. Objects being primarily fascinating can turn into objects eliciting phobic anxiety and obsessive fears (examples see Howlin, 2004, pp. 145).
Box No. 1: Primarily fascinating objects trigger obsessions and phobic anxiety
An intelligent autistic boy, who had been fascinated with all aspects of electricity for
many years, had been experimenting with electrical equipment for many hours daily.
Years later he developed intense and excessive fears and obsessions related to electricity, triggered by his parents’ warnings concerning his dangerous preoccupation. He then
refused to touch any electrical appliance without excessively and repeatedly having
checked their safety before. With the exacerbation of his obsessional fears he finally
wasn’t able to use kitchen and bathroom because he feared causing an accident bringing electricity into touch with water.
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Obsessive-compulsive phenomena and symptoms in Asperger’s disorder and High-functioning Autism
This boy, whose autism- related special interest converted into an OCDsymptom, developed an electricity obsession associated with compulsive
checking and typical avoidance behaviour which would require the diagnosis of autism with concomitant OCD.
The keeping of ﬁxed times, rituals and ordering principles is an essential
part of life in autistic individuals. Problems are likely to occur when life
conditions change and important activities get neglected in favour of ritualized behaviours (see Howlin, 2004; Box No.2).
Box No. 2: Problems caused by the change of habits
An autistic boy living in Australia had been fascinated by meteorology. Every day he
had been checking the congruence of the weather forecast with the observable weather
which was always “guaranteed” in his home country. After having moved to England
with his family, he became increasingly disturbed about the fact that in Great Britain
the real weather frequently differed from the weather predicted in the forecast.
A young woman diagnosed with an autistic disorder insisted compulsively in keeping a certain order in her room in her parents’ house. Although living in an institution, no family member was ever allowed to move
any item in the room because she had strongly forbidden any kind of minimal change there.
Like in many cases of OCD, a need for absolute completeness, sameness
and symmetry gets evident in both examples of Box No. 2 (Rasmussen &
Eisen, 1992). The boy’s behaviour, a typical autism-related special interest
accompanied by a strong ritualization, also displays features of a checking
compulsion. The interruption or the incompleteness of rituals causes significant distress in autistic individuals and is also characteristic for OCD. The
intense fear of change underlying these rituals is a typically autistic feature
also applying to several OCD- symptoms. The woman’s behaviour has typical elements of an ordering compulsion accompanying the autism- related
insistence on sameness. In both cases OCD symptoms and autistic features
go hand in hand (Bejerot et al., 2001; Bejerot, 2007).
4.4 Obsessions and compulsions in autistic disorders
4.4.1 Examples
In the autism literature there are descriptions of several obsessive
thoughts and compulsive behaviours meeting the DSM- IV- criteria for
OCD-related obsessions and compulsions (see Howlin, 2004; Box No.3).
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Box No. 3: Obsessions and compulsions
A very gifted young woman had autistic symptoms being hardly recognizable for other
people. The clinical picture was dominated by compulsive rituals she had to carry out in
her room during night- time because her parents had set limits to their daily performance in other rooms. She always had to pull the curtains from left to right and vice versa as often as they were exactly in the right position. She was also compelled to remove
even the smallest dust particles on the ﬂoor.
A boy with an autistic disorder developed the typical aggressive obsession to leave a
shop without having paid. He feared to have stolen something without having recognized it. Even for the smallest expenses he insisted in receiving the bill to be absolutely
sure that he had paid. He systematically collected all the bills because he feared being
arrested as a thief.When he once could not ﬁnd one of his collected bills, he became very
anxious and agitated.
The woman in the ﬁrst example displays obsessions and compulsions related to symmetry and cleanliness. She had to engage in ritualized adjusting
the curtains and cleaning the ﬂoor till she experienced a typical OCD-related just right-feeling of perfect symmetry, completeness and cleanliness
(see Rasmussen & Eisen, 1992). The boy described in the second example
suffered from a typical aggressive obsession associated with the fear of becoming guilty. The obsession is neutralized by compulsive reassuring and
checking behaviours. The symptom again displays a kind of dissociation experience because like many compulsive checkers the boy could not trust his
own perception and memory. These “black outs”, the dark spot in the experience of OCD-patients, lead to feelings of permanent insecurity, incompleteness and doubt (Hoffmann & Hofmann, 2004). The type of symptoms
described in Box. No. 4 might also occur in cases of OCD not related to
autistic disorders.
Green et al. (2000) described a boy with AS who developed an obsessive
fear of vomiting. He ruminated about how to avoid people who might vomit in front of him because of having certain diseases. Although he didn’t regard his fear as completely unreasonable, he felt the wish to overcome his
obsession because of the substantial impairment it caused (Fontenelle et al.,
2004; Cath et al., 2008). In this case the classiﬁcation as a comorbid OCDsymptom belonging to the category OCD with poor insight (DSM-IV: APA,
2000) seems to be appropriate.
4.4.2 Clinical trials
(a) McDougle et al. (1995) studied repetitive thoughts and behaviours in
adults with a primary diagnosis of autistic disorder and compared them
with the obsessions and compulsions of OCD, measured with the YaleBrown Obsessive-Compulsive Scale (YBOCS).
Individuals with OCD had more washing, checking and counting compulsions, whereas autistic probands displayed a greater frequency of com18
Obsessive-compulsive phenomena and symptoms in Asperger’s disorder and High-functioning Autism
pulsive questioning, telling, hoarding, ordering and touching as well as selfinjurious behaviours. The autistic patients had signiﬁcantly less aggressive,
religious, sexual and somatic obsessions than the OCD-patients. A subgroup of seven YBOCS symptom variables could be identiﬁed which reliably predicted belonging to the autism group. The authors concluded that
repetitive thoughts, behaviours and activities in autism signiﬁcantly differ
from the obsessions and compulsions displayed in the OCD-group (McDougle et al., 1995).
(b) Zandt et al. (2006) compared repetitive behaviours of children with
HFA and those displayed by children with OCD. Both groups reported
more obsessions and compulsions than a typically developing comparison
group, whereas children with OCD reported more obsessions and compulsions than children with HFA. Levels of sameness behaviour and repetitive
movements in the clinical groups were similar, whereas children with OCD
engaged in more repetitive behaviour focussed on routines and rituals. According to the authors, types of obsessions and compulsions tended to be
less sophisticated in children with HFA than in those with OCD (Zandt et
al., 2006).
(c) Russell et al. (2005) compared obsessive- compulsive thoughts and
behaviors in AS and HFA-patients (n= 40) with obsessions and compulsions experienced by OCD-Patients (n= 45); 10 (25%) participants were diagnosed with AS/HFA plus comorbid OCD (AS/HFA+OCD). AS/HFAparticipants with an average IQ frequently displayed intrusive, time- consuming obsessions and compulsions causing significant distress. Only somatic obsessions, repeating compulsions and checking compulsions occured significantly more often in the OCD-group. Comparing the
OCD+AS/HFA-group with the OCD-group it became evident that somatic obsessions occured significantly more commonly in the OCD-group,
whereas more AS/HFA+OCD-patients suffered from sexual obsessions
(Russell et al., 2005).
As 50 % of the participants in the study of McDougle et al. (1995) (a)
had IQ levels below average, many of them may not have been able to communicate about all their OCD-symptoms, especially they couldn’t report
obsessions (Russell et al., 2005). The results of Zandt et al. (2006) (b) and
Russell et al. (2005) (c) reveal that individuals with AS/HFA often have obsessions and compulsions according to DSM-IV-criteria.
4.5 Treatment
4.5.1 Obsessive-compulsive disorder
The most effective treatment of OCD is cognitive behavioural therapy
(Rosa-Alcàzar, Sanchez-Meca, Gómez-Conesa, & Marin-Martinez, 2008),
often in combination with antidepressants selectively blocking Serotonin
re-uptake (SSRI; Choi, 2009). The therapeutic rationale of CBT is domi19
Life Span and Disability
Fischer-Terworth C. / Probst P.
nated by the techniques of exposure and response prevention (ERP) combined with cognitive interventions (Hand, 1992; Salkovskis et al., 1997). After identifying an obsession or a compulsive urge as a symptom of OCD on
the cognitive level, a patient with a washing compulsion e.g. decides voluntarily to touch ”contaminated objects” (exposure) and then refrains from
washing his hands for e.g. 30 minutes or longer (response prevention). He
can now realize that anxiety and discomfort gradually decrease with each
exposure, although he does not engage in compulsive washing. By reducing
anxiety and the intensity of compulsive urges, SSRIs help the individual to
resist obsessions compulsions and to shift attention to more adaptive behaviours. CBT helps gradually to disengage OCD-related neuronal circuits
and to activate neuronal pathways associated with adaptive behaviours
(Schwartz et al., 1992; Schwartz & Beyette, 1997). As family members are
often strongly involved into OCD (Probst et al., 1979; Livingston- van Noppen, Rasmussen, Eisen, & McCartney, 1990), in many cases additional family treatment is required (Steketee & Pigott, 2006, pp. 46), especially in children and adolescents.
4.5.2 Treatment approaches to Autism-related obsessive compulsive
phenomena
Different behavioural and pharmacological interventions being effective for OCD have been shown to be helpful in reducing AOCP and OCDsymptoms in autistic individuals. On the medication level SSRIs are sometimes efﬁcient (Kolevzon, Mathewson, & Hollander, 2006)., also the co-administration or monotherapy with atypical antipsychotics has been shown
to be helpful, especially in cases of strong tic- like stereotypies (Malone &
Waheed, 2009). CBT interventions include the OCD standard technique of
gradual exposure and response prevention (Lindley, Marks, Philipott, &
Snowden 1977), which can be individually adapted to autistic individuals,
like as shown by the successful intervention for an 12-year old AD patient
with comorbid OCD (Lehmkuhl et al., 2008). Methods which also may be
effective are habit reversal, behavioural refocusing and individual variants
of thought stopping (Howlin, 2004, p. 147). Nilsson and Ekselius (2009)
even have shown the effectiveness of repeated electroconvulsive therapy
for an 38-year-old AD patient with refractory OCD-symptoms.
5. Conclusion
Individuals with autistic disorders frequently display obsessions and
compulsions co-occurring with Autism- related obsessive- compulsive phenomena (AOCP). In comparison with OCD-symptoms, AOCP are primarily ego- syntonic, serve with different functions for the individuals and don’t
elicit anxiety and discomfort. However, obsessive-compulsive phenomena
20
Obsessive-compulsive phenomena and symptoms in Asperger’s disorder and High-functioning Autism
in OCD and autism cannot be dichotomized in terms of ego-syntony and
ego-dystony (Fontenelle et al., 2004; Ivarsson & Melin, 2008). The lack of insight or poor insight (DSM-IV; APA, 2000) into the senselessness of obsessive-compulsive phenomena is not a speciﬁc feature of AOCP. It is also seen
in obsessive compulsive personality disorder (Rasmussen & Eisen, 1992)
and OCD-symptoms related to schizotypical disorders belonging to the borderline between obsessions and delusions (Sobin et al., 2000; Bejerot, 2007).
Although primarily being ego-syntonic, AOCP-related special interests can
have a deep impact on family life, e.g. when family members are tyrannized
being forced to excessively participate in ritualized special interests. Autism
with comorbid OCD-symptoms or a “mixture” of special-interests and
OCD-symptoms, moving on a continuum between fascination and anxiety,
can cause signiﬁcant distress in patients and family members.
AS/HFA-individuals having higher cognitive and linguistic abilities are
able to verbalize typical obsessions, associated emotions, magical beliefs
and the degree of insight. Further studies must reveal which obsessional
and compulsive thoughts and behaviors in autistic disorders have to be regarded symptoms of comorbid OCD. Clinicians must take into account that
typical OCD- symptoms may not be an integral part of the autistic disorder.
An exact differential diagnostic assessment is essential, as autistic patients
with comorbid OCD may beneﬁt from standard OCD-treatments (Russell
et al., 2005) or individual treatment designs for autism-related OCD. Controlled trials have to reveal which patients may respond to individual variants of CBT and/or pharmacological treatment. On the level of differential
diagnosis is has to be speciﬁed which symptom proﬁles might serve as predictors for a patient’s response to certain treatment strategies.
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29
Life Span and Disability / XII, 1 (2009), 29-40
Cognitive proﬁles of genetic syndromes
with Intellectual Disability
Santo Di Nuovo1 & Seraﬁno Buono2
Abstract
The study of similarities and differences in the cognitive proﬁles of persons with genetic-based Intellectual Disability is relevant to increase our
understanding about the complex way in which genetic aspects affect cognitive processes.
Genetic syndromes have been mainly studied with reference to withinproﬁle variability.
The aim of our study was to compare cognitive syndrome proﬁles in order to detect those cognitive variables that better characterize each syndrome.
Wechsler Intelligence Scale for Children was administered in a sample
composed of 156 persons with mild or moderate Intellectual Disability, 94
males and 62 females, divided into four groups according to their genetic
syndrome (Down or Trisomy-21, Williams, Prader-Willi, Fragile-X)
The groups were paired on chronological and mental ages and levels of
maladaptive behaviors.
Variance analysis across syndromes, followed by a discriminant analysis,
were performed for all the variables.
Results showed that the delay in cognitive functions is higher in attentionconcentration and visuo-spatial constructive skills than in verbal skills.
The genetic syndromes had different proﬁles, with a higher level for Prader-Willi than for Down and Fragile-X; the intra-proﬁle disharmony was
lower in Down and higher in Williams syndrome.
Discriminant analysis allowed us to detect the best discriminating subtests
in the classification of syndromes based on cognitive points of strength
* Received: 4 March 2009, Revised: 29 May 2009, Accepted: 29 May 2009.
1
2
University of Catania and Enna ‘Kore’, Italy, e-mail: [email protected]
IRCCS ‘Oasi’, Troina, Italy, e-mail: [email protected]
31
Life Span and Disability
Di Nuovo S. / Buono S.
and weakness.
Our results supported the hypothesis that Intellectual Disability reflects
the impaired functioning of a complex system in which some skills are
damaged more than others.
The question of “what discriminates better among syndromes” may be answered assuming a “modular” perspective of mind in disability. To analyze what abilities are speciﬁcally impaired in each syndrome, is useful to
plan speciﬁc rehabilitation procedures.
Keywords: Genetic syndromes – Intellectual Disability – Phenotype –
Cognitive proﬁles
Introduction
Peculiar cognitive proﬁles of genetic syndromes, as well as intra-proﬁle
variability, have been the subject of current discussions.
The syndromes can be represented on a continuum based on the global
severity level of the cognitive disability: namely, from the lowest level of impairment characterizing Prader-Willi Syndrome, through Williams syndrome and, ﬁnally, Down Syndrome.
On the same continuum, stability of IQ is also represented: more stable
for Prader-Willi (Waters, 1999; Roof, Stone, MacLean, Feurer,Thompson, &
Butler, 2000; Dykens, Hodapp, & Finucane, 2000), less stable for Williams
Syndrome, while a progressive reduction of IQ level was found for Down
syndrome (Hodapp, Evans, & Gray, 1999).
As far as the variability of cognitive performances across syndromes is
concerned, Down Syndrome showed less variability than Williams Syndrome, which appeared to be more heterogeneous (Porter & Coltheart,
2005). Moreover, in Williams persons, a discrepancy also occurred between
verbal and spatial memory (Vicari, Brizzolara, Carlesimo, Pezzini, &
Volterra, 1996).
High variability was also found in Prader-Willi and Fragile-X Syndromes (Kau, Reider, Payne, Meyer, & Freund, 2000). In this latter, variability seemed to be correlated to gender-linked genetic features characterizing the syndrome. According to Cornish, Sudhalter, and Turk, (2004, p.
11), “the Fragile-X Syndrome profile is characterized by uneven abilities
within and across cognitive domain”.
In order to describe within-proﬁle variability for each syndrome, many
studies have focused on the differences between cognitive functions. For
example, in Down and Williams Syndromes, opposite profiles seemed to
emerge when matching the general intellectual levels: verbal skills turned
out to be higher in the Williams syndrome, despite many atypical features
in different language areas (O’Brien & Yule, 1995;Volterra, Capirci, Pezzi32
Cognitive proﬁles of genetic syndromes with Intellectual Disability
ni, Sabbadini, & Vicari, 1996; Mervis, Robinson, Bertrand, Morris, KleinTasman, & Armstrong, 2000; Mervis, 2003); higher visual-spatial skills were
found in Down Syndrome (Lanfranchi, Cornoldi, & Vianello, 2004), typically characterized by marked deﬁcits in language development, usually affecting more phonology and syntax than lexicon (Rondal, 2004; Chapman
& Hesketh, 2001).
A few authors highlighted similarities rather than differences across
proﬁles: according to Fisch et al. (2007), cognitive and adaptive proﬁles of
children with Fragile X and Williams are “surprisingly similar”.
Cognitive outcomes of genetic disorders leading to intellectual disabilities were analyzed from a number of different perspectives (Hodapp, 1997).
According to a “total specificity” perspective (Flynt & Yule, 1994),
each genetic syndrome has unique characteristics that other syndromes
have not. For example, with regard to cognitive functioning, higher visual
rather than auditory receptive abilities were found only in Down syndrome (Pueschel, Gallagher, Zartler, & Pezzullo, 1987; Chapman & Hesketh, 2001); Williams syndrome subjects are typically characterized by
high-level language abilities, impaired visuo-spatial functioning and low
mental age (Bellugi, Wang, & Jernigan, 1994); attention, executive functions and visuo-perceptual organization are usually impaired in PraderWilli Syndrome, as a consequence of deficits in frontal cognitive processes (Jauregi et al., 2007).
In a “partial speciﬁcity” perspective, a few genetic disorders had a single
outcome, differing from mixed-etiology intellectual disabilities. For example, slightly impaired sequential processing was found both in Prader-Willi
and in Fragile-X Syndromes (Dykens, Hodapp, & Leckman, 1987).
In this perspective, analysis of similarities and differences in the cognitive development of persons with genetic-based Intellectual Disability appear to be of most relevance.
The above mentioned studies focused on each of the syndromes as well
as on the comparisons between syndromes, or – in a few cases – on the study
of the same function across syndromes: e.g., memory in Williams and Down
Syndromes (Wang & Bellugi, 1994; Devenny, Krinsky-McHale, Kittler, Flory, Jenkins, & Brown, 2004; Vicari, 2004; Vicari & Carlesimo, 2006), expressive versus receptive vocabulary and speech production in Fragile-X and
Down Syndromes (Roberts et al. 2007); and, ﬁnally, speciﬁc language functions across several genetic syndromes (Rondal, 2004).
In order to answer the crucial question about the disharmony of intellectual functioning in genetic syndromes – namely, speciﬁc impairments in
each syndrome – we compared different profiles by pairing samples on
chronological and mental ages.
Aim
The aim of our study was to compare cognitive syndrome proﬁles as well
33
Life Span and Disability
Di Nuovo S. / Buono S.
as to use a discriminant analysis approach to detect those cognitive variables that better characterize each syndrome.
Method
Instruments
Wechsler Intelligence Scale for Children (suitable for 6-to-17 age ranges,
and persons with < 18 years of mental age) was administered, including 11
tests, divided into two subscales, namely “verbal” (Information, Similarities,
Comprehension, Digit Span, Arithmetic and Vocabulary subtests), and “performance” (Picture Completion, Picture Arrangement, Block Design, Object
Assembly and Coding subtests). Scaled scores were used for each subtest.
We administered the Italian version of WISC-R (Wechsler, 1974; translated, adapted and standardized by Rubini & Padovani, 1986). The long
procedure of sample recruitment (several years), due to the rarity of some
genetic syndromes, did not allow us to use the most recent WISC-III version, which has only recently been translated, adapted and standardized in
Italy.
Tests were administered by qualiﬁed psychologists, speciﬁcally trained in
assessing persons with Intellectual Disability.
Sample
The sample (n = 156, males = 94 and females = 62), was composed of persons with mild or moderate mental retardation since WISC-R scale and
other cognitive tests may be reliably administered only to people with these
levels of Intellectual Disability. The sample was diagnosed according to
ICD-10 (WHO, 1992) criteria.
Table 1 shows that differences in chronological age, mental age (assessed
with age equivalent composite scores derived from intelligence and adaptive tests) and levels of maladaptive behaviors – measured with Vineland
Adaptive Behavior Scale (Sparrow, Balla, & Cicchetti, 1984) – turned out to
be not-signiﬁcant in the subgroups selected according to each genetic syndrome considered.
The difference in composition of subgroups reﬂects the different prevalence of the syndromes in our regional context; for some syndromes almost
all the cases existing in Sicily in last few years were recruited for the research.
34
Cognitive proﬁles of genetic syndromes with Intellectual Disability
Table 1 - Genetic syndromes with Intellectual Disability. Comparison between
means (± standard error) for Chronological age, mental age (in months),
maladaptive behaviors (from Vineland Adaptive Behavior Scale)
Total
m
f
Chronol. Age
Mental age
Malad. behav.
103
56
47
182.04 ± 9.39
81.04 ± 1.44
11.07 ± .75
Williams
12
9
3
210.00 ± 25.91
77.96 ± 5.04
10.43 ± 2.79
PraderWilli
16
7
9
196.44 ± 19.59
83.16 ± 4.32
14.50 ± 1.97
Fragile-X
25
22
3
180.00 ± 18.12
77.63 ± 3.36
13.75 ± 1.90
156
94
62
F=.43, p=.73
F=.65 p =.59
F=1.47 p=.23
Down
Data analysis
Variance analysis across syndromes was performed for all the variables.
The comparison are displayed in Figure 1, and Table 2 shows means and
standard errors for each measure.
Figure 1 - Comparison of syndromes in Wechsler subtests
(mean scaled scores)
7
6
5
4
Scaled
Scores
Prader
Willi
Prader
Willi
Williams
Williams
3
Down
Fr-X
2
Fr-X
Down
1
0
Vocab .
Similar.
Inform.
Arithm.
Digit Span
Compr.
VERBAL SCALE
Pict. compl.
Block
Pict. Arrang.
Digit Symb.
Obj. Ass.
PERFORMANCE SCALE
35
Life Span and Disability
Di Nuovo S. / Buono S.
Table 2 - Means and standard errors for each measure, and results of Analysis of
Variance across syndromes
Information
Down
2.13 ± . 20
Williams
3.10 ± .60
Similarities
Arithmetic
Vocabulary
Comprehension
Digit Span
Picture completi on
Picture Arrange ment
Block Design
3.08 ± .19
1.74 ± .13
1.99 ±.16
1.99 ± .15
1.33 ± .11
2.97 ± .16
2.12 ± .15
2.07 ± .14
3.47 ±
2.67 ±
3.38 ±
3.13 ±
2.84 ±
3.74 ±
2.93 ±
2.26 ±
Object Assembly
Digit-symbol
3.00 ± .20
1.71 ± .15
3.45 ± .58
1.85 ± .45
.55
.37
.48
.44
.31
.47
.45
.41
Prader-Willi
3.61 ± .52
4.85 ±
3.55 ±
3.69 ±
4.21 ±
2.83 ±
3.93 ±
4.71 ±
3.57 ±
.48
.32
.42
.38
.27
.40
.39
.36
5.65 ± .50
3.68 ± .39
Fragile-X
2.46 ± .41
3.40
1.66
2.99
2.87
1.23
2.94
1.92
1.89
F
2.85 p= .04
± .38
± .26
± .33
± .30
± .22
± .32
± .31
± .29
3.97 p= .01
10.66 p<.001
7.73 p<.001
11.87 p<.001
15.25 p<.001
2.33 p= .08
14.21 p<.001
5.61 p<.001
2.43 ± .40
1.77 ± .31
9.61 p<.001
7.41 p<.001
Overall, the syndromes showed quite similar trends, although the score
levels were different and marked differences were found in some areas.
In the Verbal subscale, persons with Down Syndrome presented with the
lowest proﬁle.Those with Fragile-X had the wider within-proﬁle variability:
marked deficits were found in the subtests tapping on attentional areas
(Arithmetic and Digit Span), whereas verbal proﬁle in Williams Syndrome
appeared to be rather homogeneous. Prader-Willi Syndrome showed the
highest proﬁle, despite marked decreases in attentive subtests.
Across all the syndromes, the highest score for Verbal profile was obtained in the Similarities subtest.
In the Performance subscale, similar proﬁles were found, albeit differing
in score levels.
Lowest and quite overlapping proﬁles were found in Down and FragileX Syndromes, whereas improvements in Picture Completion and Picture
Arrangement were detected in Williams Syndrome proﬁles.
Prader Willi Syndrome shows “Performance” profile rather homogenous, with a peak in Object Assembly and lower mean scores in Picture
Completion, Blocks and Digit Symbol.
On the whole, the more relevant deficits were found across all syndromes – despite their different levels – in attention-concentration subtest
areas, as well as in Block Design, which taps on visuo-spatial and constructive skills, typically deteriorated because of the neuropsychological impairment due to the genetic disease.
A discriminant analysis was performed to ﬁnd a linear combination between measures (Wechsler scores) that best classified or discriminated
among the syndromes.
36
Cognitive proﬁles of genetic syndromes with Intellectual Disability
In consideration of the number of variables entered in the analysis, a
backward stepwise method was used (alpha=.10).The Wilks’ Lambda index
to test homogeneity among groups (d.f. 1,3,152) was .76 (F= 16,67, p<.001).
The incidence of each of the variables on the discriminant function is
shown in Table 3.
Table 3 - Discriminant analysis for WAIS-R subtests. F-to-remove and tolerance
(limit: .001)
Subtest
F-to -remove
Informatio n
Similarities
Arithme tic
Vocabulary
Comprehension
Digit Span
Picture completion*
Picture Arrangement
Block Design
Object Asse mbly
Digit-symbol
Tolerance
4.41
3.57
2.38
4.21
2.41
7.55
0.44
8.34
4.48
12.04
4.54
0 .39
0 .38
0 .42
0 .25
0 .36
0 .48
0 .54
0 .42
0 .37
0 .60
0 .50
* Variable removed after stepwise procedure
The best discriminating subtests in the classiﬁcation of syndromes were:
- Object assembly: as previously shown in the analysis of mean scores
(ﬁg. 1), Prader-Willi scored the highest, whereas Fragile-X the lowest.
- Picture arrangement: higher mean scores in Prader-Willi than in Down
and Fragile X syndromes.
- Digit span: higher mean scores in Prader-Willi and Williams than in
Down and Fragile-X syndromes.
Picture Completion was the subtest with the lowest discrimination power, with similar mean scores across groups.
The eigenvalue for the ﬁrst canonical variable (the linear combination
of the variables that best discriminates among groups) was remarkably
higher than subsequent combinations (.90 vs .24 and .12), showing a higher
variance in the ﬁrst variable (72% of the total dispersion among groups).
Canonical correlations between these variables and the groups (represented as dummy variables) were quite high: .70, .44, .30.
In the “classiﬁcation matrix” of the discriminant analysis, each case falls
into a speciﬁc group having the largest value of its classiﬁcation function.
The overall percentage of correct classiﬁcations was high (82%). The high37
Life Span and Disability
Di Nuovo S. / Buono S.
est percentage was found for Down syndrome (88%), the lowest for
Williams syndrome (58%)
Discussion
The study of genetic syndromes with Intellectual Disability is relevant to
increase our understanding about the complex way in which genetic differences affect cognitive processes.
Our study aimed to explore what is speciﬁcally retarded in each genetic
syndrome, and to compare the proﬁles obtained from samples matched on
chronological and mental ages.
Overall, results supported the hypothesis that, in genetic syndromes, the
delay in cognitive functions is higher in attention-concentration and visuospatial constructive skills (as in Block Design task) than in verbal skills, as it
is the case of Similarity and Comprehension tasks.
The genetic syndromes have different profiles, with a higher level for
Prader-Willi than for Down and Fragile-X. As reported by Porter & Coltheart (2005), the intra-proﬁle disharmony is lower in Down syndrome and
higher in Williams syndrome, prevalently in “Performance” tasks. The highest variability was found in Fragile-X, thus conﬁrming previous results reported by Kau et al. (2000) and Cornish et al. (2004).
The reported prevalence of verbal skills in the profile of people with
Williams syndrome (e. g., Bellugi et al., 1994; Volterra et al., 1996; Mervis,
2003) was confirmed for receptive and semantic characteristics (Similarities, Vocabulary, Comprehension), but similar levels of performance were
also found in the Williams sample for some visual-based tasks, such as Picture Completion and Object Assembly.
The expected highest performance in Trisomy 21 visuo-spatial skills (Hodapp, 2004; Lanfranchi et al., 2004) was partially conﬁrmed: Picture Completion and Object Assembly were the highest points of the proﬁle, although we
found at the same level Similarities, that is a verbal task requiring receptive
language skills. This confirms that lexical aspects of language are less impaired in Down syndrome; while phonological and syntactic aspects (more
damaged according to Rondal, 2004) are not assessed by Wechsler subtests.
Deﬁcits in sequential thinking found both in Prader-Willi and in FragileX by Dykens et al. (1987) was conﬁrmed in our sample only for the latter
syndrome: Picture Arrangement task, requiring sequential processing of information, was a point of strength for Prader-Willi cognitive proﬁle.
Discriminant analysis allowed us to detect the best discriminating subtests in the classiﬁcation of syndromes based on cognitive points of strength
and weakness.
Object assembly was the subtest that best represented performances in
Prader-Willi syndrome; this is a task – similar to puzzles assembly – which
38
Cognitive proﬁles of genetic syndromes with Intellectual Disability
requires an ability that is unusually high in this syndrome, and considered
as a common feature of the syndrome (Dykens et al. 2000).
Picture arrangement, that requires logical and sequential thinking, was
particularly low in Down and Fragile-X Syndromes.
Digit span, i.e. verbal immediate memory, positively characterized Prader-Willi and Williams, and negatively Down and Fragile-X Syndromes.
Our results supported Detterman’s (1987, 2002) hypothesis that “intellectual disability reﬂects the defective functioning of a complex system in
which some competencies may be disrupted more than others” (Vicari et
al., 1996, p. 503).
To answer the question of “what discriminates better among syndromes”, we need to refer to some modularity of mind in the ﬁeld of disability (e.g., “category-specific deficits”: Santos & Caramazza, 2002), although it is not possible to assume that modules related to speciﬁc abilities
start out either intact or impaired (Paterson, Brown, Gsödl, Johnson, &
Karmiloff-Smith 1999). A mild and non massive modular perspective may
be useful in order to explain differences in genetic syndromes, and to analyze in detail which abilities are expected to be impaired, thus obtaining a
relevant information for planning early and specific rehabilitation interventions.
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Waters, J. (1999). Prader-Willi Syndrome. A Pratical Guide. London: David Fulton.
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42
Life Span and Disability / XII, 1 (2009), 41-52
Genetic Syndromes Causing Mental Retardation: deﬁcit
and surplus in school performance and social adaptability
compared to cognitive functioning
Renzo Vianello1 & Silvia Lanfranchi 1
Abstract
In this paper we reported some results of research carried out in Italy with
participants with Mental Retardation (better deﬁned as Intellectual Developmental Disability) due to genetic syndromes (Down, Fragile-X, Cornelia de Lange and Prader-Willi), evidencing speciﬁc conditions characterized by deﬁcit or ‘surplus’ in reading, writing and maths performances,
and in social adaptation respect to the intellectual competencies.
In some cases the comparison was made also with respect to abilities of
memory and language.
Results suggested that the cases of ‘surplus’ are in our context more frequent than those found in International literature, and this may be due to
the positive effects of the inclusion in mainstreaming classrooms of most
pupils with intellectual disabilities.
A debate on these issues, comparing different cultural and social realities, is
welcome.
Keywords: Intellectual Disabilities, Deﬁcit, Surplus, Genetic Syndromes
Introduction
The progressive shifting from the expression ‘Mental Retardation’ toward the more adequate ‘Intellectual Developmental Disabilities’ was motivated by its even more frequent use in scientiﬁc literature and the presence of this expression in the name of different Associations (Luckasson &
Reeve, 2001; Shalock, Luckasson, & Shogren, 2007).
* Received: 27 February 2009, Revised: 20 May 2009, Accepted: 20 May 2009.
1
University of Padua, Department of Development and Socialization, Psychology e-mail:
[email protected]
43
Life Span and Disability
Vianello R. / Lanfranchi S.
Moreover, the use of the term intellectual disability shows the shift of
the researchers’ interest from the study of mental retardation in general, to
the study of the speciﬁc proﬁles of many syndromes causing mental retardation, better deﬁned as Intellectual Developmental Disabilities (Dykens,
Hodapp, & Finucane, 2000).
Comparison between Down syndrome and Williams syndrome cognitive
profiles shows complementary strength and weakness, as regards verbal
competencies (higher in Williams syndrome) and visuo-spatial skills (more
efficient in Down syndrome) (Vicari, Carlesimo, Brizzolara, & Pezzini,
1996; Dykens et al., 2000; O’Brien & Yule, 2000; Vicari, Marotta, & Carlesimo, 2004).
Besides research evidencing what the different syndromes have in common – e.g., deﬁcits related to the “Central Executive” function (Lanfranchi,
Cornoldi, & Vianello, 2004; Lanfranchi & Vianello, 2004; Lanfranchi &
Vianello, 2006) – many other studies aim to search for specificity of syndromes cognitive aspects.
We will focus our attention on results of research regarding the cognitive-behavioral and adaptive profiles (including school performances) of
four syndromes: Down, Fragile-X, Cornelia de Lange and Prader-Willi syndromes.
Down syndrome is the most studied, and the most frequent genetic syndrome. Different authors have underlined the speciﬁcity of the behavioral
and adaptive proﬁle: compared with the intellectual level, linguistic performances are lower, except for pragmatic aspects (Buckley, 1999;Vinter, 2002;
Rondal, 2004a; Rondal, 2004b); deficits are found in short-term verbal
memory and high-controlled working memory (Lanfranchi et al., 2004);
while visuo-spatial short-term memory are coherent with intellectual level,
and adaptation skills are superior if compared with general intelligence
(Vianello, 2006).
As regards the Fragile-X syndrome (the most frequent hereditary syndrome causing intellectual disability), literature has shown marked differences between genders, deﬁcit in working memory and sequential memory,
good simultaneous processing and adult adaptation (Saunders, 2000; Lanfranchi, Cornoldi, Drigo, & Vianello, 2008).
A different proﬁle is shown in Prader-Willi syndrome (well-known for
the hyperfagia), characterized by preserved abilities in the visual-motor
discrimination if compared to auditory-verbal one, in the visual more than
auditory attention, in the integration of spatial more than verbal stimuli, in
simultaneous more than sequential processing, in long term more than
short term memory (Waters, 1999; Dykens et al., 2000).
A peculiar proﬁle was found also in Cornelia De Lange syndrome, with
particular points of strength, in visuo-spatial memory, perceptual organization and ﬁne-motor behavior, and weakness in attention and language skills
(Fiori, Lanfranchi, Moalli, & Vianello, 2008).
44
Genetic Syndromes Causing Mental Retardation
In most research an assumption is implicit, that inter-syndromes and intra-syndromes differences are mainly due to genetic differences.
We will suggest a line of research complementary to this, evidencing the
interaction between biological bases and environmental inﬂuence, i.e. poor
or normal or enriched environment (according to Baroff, 1989), producing
cognitive and behavioral proﬁles of persons with genetic syndromes
The constructs involved are those of ‘deﬁcit’ or ‘surplus’ with respect to
mental age.
The ‘deﬁcit/surplus’ hypothesis.
Education and learning can signiﬁcantly inﬂuence academic and social
abilities in individuals intellectual developmental disabilities. Applied research (Baroff, 1989, Vianello, 2008) has revealed the existence of two opposed, contrasting phenomena.
Zigler and Bennet-Gates (1999), on the basis of research by Zigler and
co-workers over a period of 40 years, found that individuals with mental retardation show, at a motivational and personality level more negative behavior in the presence of strangers, psychological dependence on adult ﬁgures personally-known to subjects, less expectation of success, more importance given to external motivation rather than internal.
As a result of this, the person is less motivated to work, has less self-esteem, and self-efﬁcacy. A consequence of this is the individual’s taking less
advantage of personal potential, and is therefore in “deﬁcit” respect to mental age (Vianello, 2008); that is, performances below expectations of cognitive
functioning. The phenomenon opposite to mental age deﬁcit is characterized
as “surplus”.This issue has had very little literature dedicated to its existence.
It analyzes how adequate educational intervention can facilitate above-average performance compared to typically developing children wuth the same
mental age (or equivalent intellectual age resulting from intelligence tests).
In this paper we summarize the results of some studies conducted in
Italy in samples of persons with mental retardation due to the genetic syndrome (Down syndrome, Fragile X syndrome, Cornelia de Lange syndrome, and Prader-Willi syndrome), showing the typical situations characterized by “deﬁcit” or “surplus” in reading, writing, maths, and social adaptation compared to their assessed intellectual skills.
We specifically evaluated the variables: intelligence, assessed with the
Wechsler Scale (Wechsler, 1974) or other measures less sensitive to educational inﬂuences, as Logical Operation Test (a simpliﬁed version of Logical
and Conservation Operations test, Vianello & Marin, 1997) and “Correspondence and Function Assessment” (CFV, Vianello & Marin, 1998); adaptation (assessed by Vineland Scales); in some cases short-term memory and
working memory, linguistic production and comprehension.
45
Life Span and Disability
Vianello R. / Lanfranchi S.
Deﬁcit and “surplus” compared to Mental Age
in Down Syndrome.
Vianello, Lanfranchi, Moalli, Petrillo and Sestili inproving an earlier
study conducted on ten participants (Sestili, Moalli, & Vianello, 2006) have
analyzed the relation between intellectual level and academic abilities
(reading, comprehension, writing and calculation abilities) respect to a
group of 19 persons with Down Syndrome.
Table 1 - Mental age assessed with LO test, and academic performance of 19 individuals with Down Syndrome (age 13-14), primary and middle school 2
M ental
Re ading:
Ability To
Reading: Comprehension
Writing
Can't read
Below 1st grade
Can't write
Below 1st grade
=
4.3
Can't read
Below 1st grade
Can't write
Below 1st grade
=
3
4.3
Can't read
Below 1st grade
Can't write
Below 1st grade
=
4
4.3
Can't read
Below 1st grade
Can't write
Below 1st grade
=
5
4.9
4 th grade
3rd grade
2 nd grade
End 1st grade
++
6
5.0
Can't read
Below 1st grade
Can't write
Below 1st grade
=
Instrumental
1
age
4.3
2
nd
Calculate
st
st
7
5.0
Beginning 2 grade
1 grade
Beginning 1 grade
Below 1st grade
+
8
5.3
End 1st grade
Beginning 1st grade
Beginning 1st grade
Below 1st grade
+
9
5.6
1st grade
1st grade
Beginning 1st grade
Below 1st grade
+
10
5.6
1st grade
1st grade
Beginning 1st grade
Below 1st grade
+
11
5.9
Can's read
Below 1st grade
Can't write
1st grade, Interm.
=
12
6.9
Can't read
Below 1st grade
Can't write
Below 1st grade
-
13
7.0
2 nd grade
4th grade
1st grade
End 1st grade
+
14
7.3
Beginning 1st grade
1st grade
Beginning 1st grade
1st grade, Interm.
=
st
st
st
nd
15
7.3
End 1 grade
1 grade
1 grade
End 2 grade
16
7.6
Beginning 1st grade
1st grade
Beginning 1st grade.
1st grade, Interm
-
17
7.6
End 1st grade
End 1st grade
End 1st grade
End 1st grade
-
18
7.6
5 th grade
4th grade
2 nd grade
End 1st grade
+
19
st
8.0
End 1 grade middle sc hool
st
1 grade middle school
5t h grade
rd
3 grade
=
+
As reported in Table 1 three children with Down Syndrome show a
deﬁcit (see last column with one less mark) in academic abilities respect to
Mental Age, assessed in terms of “logical thinking” through the Logical Operation (LO) test, while eight children show a “surplus” (+ sign) more in
reading, less in writing, and the least or completely absent in maths. It is our
belief that this result reflects a different role of “logical thinking” in the
three academic activities.
2
We refer to Italian scholastic system.
46
Genetic Syndromes Causing Mental Retardation
Table 2 - Intellectual level (Test of Logical Thinking), daily activities and socialization ability (Vineland test), in 8 groups of adolescents and young people
with Down Syndrome
Mean
Logical
Age
Thought Test
Daily Activities
Socialization
Mean
Equiv.
Mean
Equiv.
Mean
Equiv.
score
Age
score
age
score
age
GroupA
24.3
7.3
4.9
285.0
8.5
170.3
7.9
Group B
24.0
11.7
5.7
353.0
16.6
245.0
15.2
Group C
27.7
10.2
5.6
324.5
13.3
228.2
13.0
Group D
23.0
8.2
5.2
280.5
9.6
178.0
7.6
GroupE
18.0
9.7
5.5
272.5
8.7
175.5
7.3
Group F
18.0
8.6
5.3
276.0
9.4
205.0
10.6
Group G
19.2
5.5
4.4
222.0
6.1
138.0
4.3
Group H
18.7
6.0
4.5
189.0
4.6
129.5
4.2
OVERALL
21.6
8.4
5.1
275.0
9.6
183.5
8.7
As far as socialization is concerned, we can consider another study conducted in Italy (Moniga, Beschi, & Maeran, 2008), which presents results
from a speciﬁc rehabilitative plan based on life experience aimed at facilitating “independent life”, involving eight groups of children with Down
Syndrome. As is shown in Table 2, at the equivalent “logical thinking” age
of ﬁve, there is superior social adaptability and daily capabilities.
Considering other research carried out in Italy (Ferri, 1989; Ferri, Gherardini, & Scala, 2001; Bargagna, Perelli, Dressler, Pinsuti, Colleoni, Astrea
et al., 2004), the results seem to conﬁrm the following tendencies:
- Up to the age of 11-14, social adaptation tends to reach a similar level
to that of children ages 6-7 (and superior to cognitive abilities of one or two
years).
- At a higher age, progress has been registered, even if very slowly, up to
ages 25-30, which allows for generally average performances for typical developing children of approximately 8 years.
47
Life Span and Disability
Vianello R. / Lanfranchi S.
Deﬁcit and surplus compared to Mental Age
in Fragile X Syndrome
In a recent unpublished research we conducted with Elisa Moratti, on
ten children with X Fragile Syndrome (mean mental age 5 years and 3
months, and mean chronological age, 12 years adn 7 months (ranging from
6 years and 10 months to 17 years and 2 months).
Figure 1 - Cognitive, linguistic, adaptive, and academic performance proﬁles of 10
boys with Fragile X Syndrome
8
7
6
5
4
3
2
1
0
IN
TE
LL
IG
EN
CE
LI
N
G
.C
O
M
PR
EH
.
LI
N
G
.P
R
O
D
U
CT
.
V
ER
BA
L
M
EM
.
V
IS
U
O
-S
P.
M
EM
.
CE
N
TR
A
L
EX
EC
.
R
EA
D
IN
G
M
A
TH
EM
A
TI
CS
A
D
A
PT
IO
N
As shown in Figure 1 also in this case, surplus relative to mental age is
evident in reading performance while less so in maths. Greater still is the
surplus (corresponding to adaptive capacity) if the comparison is made
with linguistic and mnemonic abilities.
Deficit and Surplus respect to Mental Age
in the Cornelia De Lange Syndrome
In a study conducted by Fiori et al., (2008) on eight children with Cornelia De Lange syndrome academic performance parameters tend to be superior to mental age assessed with WISC-R in two individuals from the four
taken into consideration (see Table 3).
48
Genetic Syndromes Causing Mental Retardation
Table 3 - Performance of 8 young people with Cornelia de Lange syndrome in the
areas of: intelligence, linguistic comprehension and production, visuospatial, adaptive ability and academic performance
Chrono-
Mental A ge
Langu age
Language
Visuo-spatial
So cial
Academic
logic Age
(IQ)
Underst andin g
Produc tion
Ab ility
Ab ilit y
Performance
5.5
2.8 (50)
2.8
2.0
2.8
1.6
-
7,6
3.8 (50)
3.0
2.6
3.0
2.0
-
8.9
2.8 (<25)
1.5
1.5
-
1.5
-
10.10
6.4 (64)
4.3
4.3
6.0
4.3
6.0
12.0
11.5 (97)
12.0
9.2
8.0
9.0
12.0
12.3
4.6 (38)
2.9
2.7
5.0
3.2
15.4
1.9 (<25)
1.5
1.5
-
1.5
17.6
13.3 (76)
12.9
1 1.5
17.6
7.0
(surplus)
14.0
11.5
(surpl us)
Table 4 - Performance of 4 adolescents with Cornelia de Lange Syndrome in three
different tests (WISC-R, LCO, and CFV) that evaluate different aspects
of intellectual performance, and academic performance
Chron. Age /
Mental Age or
Equiv. Age
WISC-R
OLC
CFV
Academic
Perfomance
10.10
6.4
4.11
6.0
6.0
12.0
11.6
6.8
6.6
12.0
12.3
4.6
4.5
5.0
7.0
17.6
13.3
7.0
6.6
14.0
Comparing through different tests the intellectual level of four of the
children, in Table 4 we see tests differences in the estimated intellectual level. The test used in this study were WISC-R (Wechsler, 1974), LCO (“Logical and Conservation Operations”, Vianello & Marin, 1977) and CFV test
(“Correspondence and Functions Assessment” test, Vianello & Marin,
1998).
These results are particularly interesting if we remember that in the test
result the least inﬂuenced by environmental factors (educative, social, linguistic) is the LCO test - the CFV and WISC-R tests closely follow. For four
persons, academic performance shows great ‘surplus’ compared to “logical
thinking” revealed in the LCO test. Probably this is due to wery high qual49
Life Span and Disability
Vianello R. / Lanfranchi S.
ity educational intervention, that improved individual skills.. The surplus
respect to the CFV test is also important. These results also show a certain
tendency to improved performance respect to WISC-R results.
Deﬁcit and Surplus respect to Mental Age
in the Prader-Willi Syndrome
Research conducted by D’Amato, Gasparini, Lanfranchi. Moro, Raffa,
& Vianello (in Vianello, 2008) offers data pertaining to Prader-Willi Syndrome (table 5). An interesting result is the intra-syndromic variability,
comprising individuals with normal intelligence (n. 1), Borderline Intellectual Functioning (nn. 2, 4, 8, 9, 10) and moderate to profound mental
retardation. In adaptive behavior, assessed with Vineland Adaptive Behaviour scale, there is a conspicuous surplus in communication and daily
skills. Also, in academic performance, both surplus and deficit situations
exist.
Table 5 - Chronological Age, IQ, Mental Age (assessed with LO test), adaptive
competence (Vineland test), and academic performance (reading, writing,
maths) in 12 children with Prader-Willi Syndrome.
The symbols + and – indicate deﬁcit or ‘surplus’ respect to mental age.
Chron.
Age
IQ
Mental
Age
1
2
3
4
5
6
7
5.8
6.2
6.6
8.0
8.1
11.2
11.2
93
79
78
47
36
5.0
4.9
2.0-2.6
5.9
1.6-2.0
5.9
4.5
6.1 +
5.11 +
2.4
7.7 +
1.6
6.10 +
3.10
5.0
5.1
2.10
5.0
2.3
9.4 ++
3.11
2.8 4.2 2.3
5.5
1.6
6.4
4.1
5.1
5.1
2.2
4.3 3.7 +
5.1
4.1
-
-
8
15.3
70
10.0
10.10
11.10 +
12.4 +
-
4 th gr ade,
Elem.
3rd grade
Elem.
9
17.0
76
11.11
12.1
16.9 +
15.10 +
-
3rd gr ade.
Middle +
3rd grade
Middle +
10
17.8
84
13.6
13.5
15.10 +
11.3 -
-
3rd gr ade,
Middle
3rd grade
Middle
11
19.3
54
8.1
9.4 +
10.3 +
14.1 +
-
2n gr ade
Elem. -
2nd grade
Elem. -
12
20.0
51
9.8
12.1 +
16.11 +
16.7 +
-
1 grade
Middle
Commu
Daily Socializanica tio n Abilities
tion
Moto r
Abilities
Reading and
Writing
st
50
Maths
st
1 grade
Middle
Genetic Syndromes Causing Mental Retardation
Discussion
An adequate interpretation of the results presented in this article must
assume the existence of a crucial fact: our research did not include any
“training” nor selection of participants. This fact is important because the
data must be interpreted in the context of a “standard” reality, not of particularly trained persons with mental retardation. Surely, the existence of a
“surplus” respect to mental age tends to be present in the studies aimed to
evaluate the effects of training or direct intervention (Rynders, 1981;
Byrne, Buckley, MacDonald, & Bird, 1995; Rynders, 1999)
But is this also valid, in an international context, for the general population of persons who suffer mental retardation for genetic causes?
We haven’t been able to gather convincing nor sufﬁciently organicallyrelated results for deﬁnitive conﬁrmation.
Comparing earlier research results (e.g. Baroff, 1989) reveal that, above
all for reading-writing abilities, this “surplus” characterizes the Italian reality more than others, and the crucial variable may be the inclusion of almost
all pupils with mental retardation in mainstreaming and not in “special”
classes (much different than in many other countries).
At the conclusion of this article, it seems we have formulated more questions than generated answers. The affirmation that ‘surplus’ in academic
and social performance seems to be greater where academic inclusion of
disabled persons is more widespread, is still a hypothesis to conﬁrm, however it may be interesting and stimulating.
We also hope that this paper can contribute to promote a comparison
between diverse cultural and social realities so that we can better understand how a academic context fostering integration could influence disabled student’s performance.
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Life Span and Disability XII, 1 (2009), 53-66
Increased risk of neuropsychological disorders in
children born preterm without major disabilities:
a neurodevelopmental model
Filippo Dipasquale1 & Paola Magnano2
Abstract
Over the past 30 years, preterm births have drastically increased and today
represent 12.5% of total births. About 1.2% of preterm births characterize
very preterm births (GA<32weeks) that, with very low birth weight
(BW<1500grams), are constantly found as risk factors of unfavourable
neurological outcomes in longitudinal follow up studies. Actually, also
“late preterm” children (preterm born from 33 to 36 weeks of gestational
age), normally considered at low risk for neurodevelopmental disabilities,
are supposed to represent a population of children to be monitored. Previous ﬁndings of a general cognitive impairment in children born preterm
have gradually addressed the assessment of more speciﬁc neuropsychological skills and pointed out the importance to follow these children up to
adolescent age. The neuroanatomical prerequisite of an abnormality in
frontal lobe development and the correlation with various neuropsychological dysfunctions (ﬁne and gross motor disabilities, executive function
and working memory deﬁcits, visual-constructional and attentional dysfunctions) underline the interference of preterm birth with normal brain
maturational phases. Though showing more demanding neurodevelopmental pathways than term peers, a large number of preterm children tend
to functionally normalize in adolescence. The review supports the hypothesis of a neurodevelopmental model that can be at risk to inﬂuence dysfunctional neuropsychological outcome.
Keywords: Preterm infants, Developmental neuropsychology, Executive
functions, Minor neurological dysfunction
* Received: 2 March 2009, Revised: 6 May 2009, Accepted: 6 May 2009.
1 Neurodevelopmental assessment – Rehabilitation Unit University Hospital “Vittorio
Emanuele, Ferrarotto, Santo Bambino”, e-mail: [email protected]
2
Ph.D. in Psychological Guidance Science, University “Kore”, Enna.
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1. Introduction
A brief report by the U.S. Institute of Medicine, published on July 2006
18th, outlines health costs related to managing the growing morbidity associated with the increase of preterm births and unfavourable outcome in
neurocognitive, behavioural and learning areas. They outline ﬁgures higher
than $26.2 billion, with shares of $51,600 for each child born preterm. This
report stresses the significant increase of preterm births over the past 30
years that, with racial differences, today represents approximately 12.5% of
total births (I.O.M., 2006).
Births under 32 Gestational Age (GA) and/or Very Low Birth Weight
(VLBW<1500 grams) characterize 1.2% of all preterm births, and represent conditions that have been identiﬁed as the main neurodevelopmental
risk factors in several longitudinal studies (Marlow, Wolke, Bracewell, &
Samara, 2005; Lindström,Winbladh, Haglund, & Hjern, 2007). However, for
some years, a growing body of scientiﬁc literature reports ﬁndings of a neurodevelopmental risk even for so-called “near term newborns”, better defined today “late preterm” infants, born between the 34th and 36th GA,
which account for about 70% of preterm infants (Engle, Tomashek, & Wallman, 2007; Petrini, Dias, McCormick, Massolo, Green, & Escobar, 2009).
Epidemiological data obtained from cohorts of children evaluated from
1998 to 2004 during a follow up at the corrected age 18-24 months, published by the Vermont Oxford Network (VON) – an international network
planned among Neonatal Intensive Care Unit (NICU) in more than 25
countries around the world – reveal a higher prevalence (between 25% and
30%) of minor neurodevelopmental dysfunctions (delay in acquisition of
motor skills and other various anomalies documented by a Mental Index
<70 on the Bayley Scales of Infant Development), than major disturbances
(infantile cerebral palsy, severe sensory deﬁcits, microcephaly, mental retardation). In support of this investigation, several other studies in Very
Preterm (VP) infants have previously documented a clear prevalence of
cognitive disorders and neurological diseases, which appear to characterize
the outcome in 35-50% at preschool age (Hadders-Algra, 2003). According
to this report, data showing a higher prevalence of a supposed intellectual
deﬁcit in children born preterm have often recurred in the literature, variously highlighting a borderline Intellective Quotient (IQ) (Bohm, KatzSalamon, Smedler, LLagercrantz, & Forssberg, 2002), or behavioural disorders and difficulty in control of attention (Bohm, Smedler, & Forssberg,
2004) or other neuropsychological disorders related to memory and executive functions (Bayless & Stevenson, 2007). Very preterm and VLBW children are considered at high risk to underachieve at beginning of school
years, lagging behind their full term peers, because of their bad performances in multiple curriculum areas with most prominent difficulties in
math (Pritchard, Clark, Liberty, Champion, Wilson, & Woodward, 2008).
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Increased risk of neuropsychological disorder in children born preterm without major disabilities
Recent ﬁndings are more frequently documenting a tendency to therapeutic interventions or other assistance for delayed school employment even in
Low Birth Weight (LBW<2500gr) preterm that have been considered at
low risk, eventually showing different developmental pathways to normality from infancy to adolescence than their term peers (Reuner, Hassenpﬂug,
Pietz, & Philippi, 2009).
Therefore, if we consider that Cerebral Palsy (CP), commonly affecting
extreme preterm (GA<30) and/or Extremely Low Birth Weight
(ELBW<1000gr) in a percentage of 15-25%, has attained incidence of 1.53% and that behavioural and cognitive disorders occur in a prevalence of
30-50%, we should expect more frequent effects in the medium and long
term on a large amount of children, even at low perinatal risk, not only in
terms of physical and/or cognitive functioning, but also on their emotional
and psychosocial adaptation (Moster, Lie, & Markestad, 2008).
2. Neurodevelopmental risk and neuroanatomical correlations
During the last century, sophisticated genetics, physiological and neuroimaging techniques have concurred to develop knowledge on the mechanisms that govern a lot of brain functions. Over all, advances in neuroimaging make it possible today to document developmental changes in
cerebral structure, and emergent data on brain growth in preterm born infants have recently suggested a correlation with neurobehavioural or cognitive outcome during school age and early adolescence. Among diagnostic
methods with high sensitivity in predicting neurological outcome, trans-cranial cerebral ultrasounds allow us to accurately describe the characteristics
of lesions in very preterm infants already in the ﬁrst weeks of post-natal age
(Leijser, de Bruïne, Steggerda, van der Grond, Walther, & van Wezel-Meijler, 2009a; Leijser, Steggerda, de Bruïne, van der Grond, Walther, & van
Wezel-Meijler, 2009b).
Neuroimaging ﬁndings in children born preterm are well documented.
White matter abnormalities, referred to as Peri-Ventricular White Matter
Abnormalities (PVWMA), have been related to unfavourable neurological
outcome in preterm. This assumption is based on the evidence of a timespecific Central Nervous System (CNS) vulnerability, with a complex
pathogenetic combination of primary destructive and secondary maturational and trophic disturbances (Volpe, 2009). Recent studies agree that insults to a particular area of developmental brain, the subplate, prematurely
lying in the periventricular zone and that addresses cell precursors migrating to the layers of the cortex, could be responsible for neurological outcome. McQuillen and Ferriero (2005) have emphasized the selective sensitivity of subplate neurons to hypoxia-ischemic insults that occurs in the
perinatal period. In preterm newborn, according to artery ﬂow distribution
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Dipasquale F. / Magnano P.
at gestational age between 23 and 32 weeks, a hypoxic-ischemic insult is feasible at the level of the anterior periventricular white matter that, if not
leading to characteristic focal lesion - cystic Periventricular Leukomalacia
(cPVL) or Intra-Parenchymal Hemorrhage (IPH) - may alter the maturation of cortical structures and establish important adverse effects on function, involving supposed neurotransmitter or ﬁne structural deﬁcits.
Findings on the characteristic motor disorders in preterm born infants
have focused the importance of early diffuse damage to subplate neurons.
To describe the mechanisms underlying disorders observed during the development of motor behaviour, Hadders-Algra (2007) has assumed that the
quality of spontaneous General Movements (GMs) - that have been identified as an early marker of proper functioning or malfunctioning of CNS
(Prechtl, Einspieler, Cioni, Bos, Ferrari, & Sontheimer, 1997) - should be
probably correlated to subplate maturation. According to Edelman’s Theory of Neuronal Group Selection, Hadders-Algra (2000) describes a linear
path of typical changes of GMs characteristics during early development,
which overlaps with the maturation of subplate. During human subplate
maturation from 23 to 35 gestational weeks (see also McQuillen & Ferriero,
2005), GMs show the typical activity - ﬂuent writing and ﬁdgety movements
- of a normal motor development in the 4-5 months post-term period. Grading the quality of abnormality of GMs, a motor poor repertoire or clear abnormal stereotypic movements, observed during a possible generic hypoxic-ischemic insult, could depend on a altered reduced selection of functional groups of neurons with consequent decreased normal variability of motor development. The Prechtl’s method, when administered at 2-3 months
corrected age, shows a very high sensitivity and specificity (over 90%) to
detect normal cerebral functioning or a spastic cerebral palsy, but it does
not have a high positive predictive value in estimating risk of neurocognitive dysfunctions at preschool age (Einspieler & Prechtl, 2005; Einspieler,
Marschik, Milioti, Nakajima, Bos, & Prechtl, 2007).
Other studies are currently orienting their efforts to determine their
positive value in predicting neurocognitive outcome at school age and early adolescence. Currently, most of the studies agree on the evidence of a
modiﬁed development of brain functioning linked to preterm birth (SoriaPastor, Gimenez, Narberhaus, Falcon, Botet, Bargallo, et al., 2008; Stewart
& Kirkbride, 2008). Nosarti, Giouroukou, Healy, Rifkin, Walshe, Reichenberg, et al. (2008), using Magnetic Resonance Imaging (MRI) with a voxelbased morphology technique in adolescents born very preterm, documented a decreased grey and white matter volumes proportionately to early gestational age and grade of neurodevelopmental dysfunctions attested by low
scores in language and executive functions. According to previous study,
Ment, Kesler, Vohr, Katz, Baumgartner, Schneider, et al. (2009) using MRI,
report reduction in volumes of cerebral grey and white matter in a group of
children between 8 and 12 years born very preterm. In normal group MRI
58
Increased risk of neuropsychological disorder in children born preterm without major disabilities
showed a gain of cerebral white matter on the grey matter, regularly deriving from a thickness reduction of the last; this feature was not present in
preterm children, in support of the hypothesis of a disorder caused by
preterm birth to maturational trajectory of brain development, which is evident in late childhood and early adolescence.
3. Motor and neuropsychological dysfunctions
In the past, ﬁndings of low IQ scores in very preterm born children have
induced a growing interest in detecting neurocognitive disorders in other
neuropsychological areas. A low IQ score does not properly explain specific deﬁcits in neuropsychological functioning and often does not provide a
clear comprehension of neurodevelopmental outcome in order to justify
daily live disabilities or academic failures. Early studies are actually oriented towards an assessment of neuropsychological skills considered at risk in
children born preterm at school age. Moreover, children with a normal IQ
have been found to lack speciﬁc abilities in ﬁne and gross motor functions,
executive functions, memory, visual motor integrative abilities, visual perception, spatial skills and attention (Salt & Redshaw, 2006).
3.1 Fine and gross motor functions
The relationship between mild brain damage and neuropsychological
disorders can be checked in children who presented an overview of “clumsiness” (i.e., “clumsy child syndrome”). Over the years minor disturbances
of motor behavior, predominantly characterized by motor un-coordination,
abnormal posture and ﬁne manipulative dysfunction, were variously classiﬁed as: “dyspraxia”, “developmental apraxia”, “minor brain damage”, etc.
In 1994, a ﬁrst international consensus meeting approved the deﬁnition of
“Developmental Coordination Disorder” (DCD). In DSM-IV this deﬁnition states, in general, a group of children with normal intelligence and poor
motor coordination, with no obvious signs of neurological disease such as
cerebral palsy or neuromuscular disease. According to the American Psychiatric Association, this disorder affects “...signiﬁcantly academic achievements or activities of daily life” (Hadders-Algra, Mavinkurve-Groothuis,
Stremmelaar, Martijn, & Butcher, 2004). DCD has frequently been correlated to Attention Deficit Hyperactivity Disorder (ADHD), language,
learning and other various developmental disabilities: it does not necessarily represent a condition of brain damage. In 1979, Touwen proposed the
term “Minor Neurological Dysfunction” (MND) in replacing “Minimal
Brain Damage”, to deﬁne a syndrome which may not always be related to
brain lesion. According to the neurological abnormalities found at
Touwen’s exam – including assessment of posture and muscle tone, reﬂexes, dyskinetic movements, coordination and balance, skill in handling, and
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other minor neurological signs - two forms of MND are today recognized.
The first (MND-1) is the simple one: it reveals minor symptoms, with abnormalities found in at least one, at most two clusters of signs. This form is
associated with a moderate risk in recurrence of behavioural disorders
(ADHD) and learning disabilities, and it should not represent a condition
of strictly organic disease, but a dysfunctional developmental status that
could be placed in the extreme tail of the normal distribution of values of a
low, non-pathological, quality of brain functioning. This form of MND may
have a genetic component to the base of an ill-defined predisposition of
Central Nervous System (CNS) to mal adapt to any stress (such as prematurity, Intra Uterine Growth Restriction, mild to moderate perinatal asphyxia (Hadders-Algra, 2002), or eventual prenatal overload resulting
from a mother’s suffered psychological stress during the evolution period
(Touwen, 1979). The second is the complex form of MND (MND-2). It occurs more frequently in at risk preterm children, or in combination with
conditions that could cause injuries to the CNS during neurodevelopment.
Diagnosis is based on abnormality assessed in more than two clusters of
neurological signs. The MND-2 is consistently associated with risk factors
such as very preterm birth and very low birth weight, and shows features
through minor to moderate disturbances of motor behaviour, with neurological symptoms that, in serious cases, simulate clinical picture of a slight
degree of Cerebral Palsy, a borderline CP. In longitudinal follow up studies
a quantitative reduction of symptoms in affected children from the pre-pubertal period is frequently observed, with a tendency to persistence of
slighter signs belonging to the cluster of more impaired skills (Hadders-Algra, 2002, 2003).
3.2 Executive functions (EF) and working memory (WM)
A growing number of studies points out the impact of Executive Functions and Working Memory deﬁcits in children born preterm at school age
and in adolescence.
Executive functions (EF) refer to a group of interrelated processes that
support cognitive and adaptive functioning, including the inhibition of acting in response, the appropriate shifting and sustaining of attention for the
purposes of goal-directed actions. Most studies are going to conﬁrm their
importance in children’s developing social competences and academic performance (Blair, Zelazo, & Greenberg, 2005; Carlson, 2005).
Mechanisms that underlie the complex functioning of EF have been
strictly associated to Working Memory (WM) that essentially represents
the ability to maintain the online memory information. Planning and operational skills, requesting attentive and memory performance, are consistent
with a well functioning working memory. As reviewed in recent studies,
Working Memory involves central executive functions that are linked to
brain maturational functions of frontal lobes that, as accurately document60
Increased risk of neuropsychological disorder in children born preterm without major disabilities
ed by neuroimaging techniques, are constantly activated during performances in skills as inhibition, verbal fluency, memory, strategic problem
solving that have been classiﬁed as executive functions.Among tests of clinical assessment, two of main evaluated WM skills are inverse span in verbal
ﬂuency and in visual-constructional memory. A classical model of Working
Memory functioning assumes that verbal material is maintained into a
phonological loop and visual-spatial material into a visual-spatial sketchpad. Currently from a neurodevelopmental point of view, a central executive panel seems to operate during preschool age and early adolescence,
and it should not represent a defined memory store, but an attentional
monitor involved in tasks that require attentional shifts and processing of
information. Employing multiple tasks, this functioning could require more
efforts for attentional capacity and absorb most of the time to perform. In
older children and adults, instead, phonological loop and visual-spatial
sketchpad become independent from central executive panel, requiring less
time for attentional processes. (Conklin, Luciana, Hooper, & Yarger 2007;
Saavalainen, Luoma, Bowler, Määttä, Kiviniemi, Laukkanen et al., 2007).
Another recent study has documented a developmental process relating to
performance in cognitive abilities assessing Event-Related brain Potentials
(ERPs) activation. In the early stages of skill acquisition, ERPs are widely
temporally and spatially distributed. It seems that neural activation travels
across multiple brain sites that communicate continuously in ﬂux with each
other. When a skill is mastered, temporal and spatial relationships stabilize
(Molfese DL, Molfese VJ, Beswick, Jacobi-Vessels, Molfese PJ, Key et al.,
2008). The old epigenetic Hebbian model (Hebb, 1949) to explain brain development may have to adapt to these more recent ﬁndings.
Although early appearing of EF abilities during development is difﬁcult
to test, a recent study has attempted to document some abnormalities in infants born preterm during their ﬁrst 2 years of life. A signiﬁcant difference
in executive functioning was found between born preterm infants and full
term peers, but it obviously needs to be conﬁrmed by longitudinal assessment and follow up at preschool age (Sastre-Riba, 2009).
In assessing EF during development, various critical aspects emerge in
outlining an interrelation with deficits observed in many other areas. Extremely preterm born children pay the highest price in terms of deﬁcit in
executive functions and motor disorders (Bayless & Stevenson, 2007). In a
study on motor hyperactivity and ADHD, difficulties in impulse control,
working memory and other executive functions have been confirmed in
preterm children when starting school. Two of the most important predictors for executive functions were gender (male) and visual impairment;
these data invite us to better investigate the visual function (Böhm,
Smedler, & Forssberg, 2004). Marlow et al. (for the EPICure Study Group,
2007) evidenced a very high prevalence of impairment in visual-spatial, perceptual-motor, attention-executive, and gross motor function at early
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school age in extremely preterm without major disability (CP, sensory impairment). They assume that neuropsychological deﬁcits do not depend on
motor impairment, but motor and executive-function difﬁculties together
make an important additional contribution to worse school performance. A
positive aspect is that motor abilities can be improved by therapeutic or educative strategies (Marlow, Hennessy, Bracewell, & Wolke, 2007); as recently reviewed, early motor intervention programs show they positively inﬂuence cognitive outcomes in the short to medium term (Spittle, Orton,
Doyle, & Boyd, 2007). Korkman, Mikkola, Ritari, Tommiska, Salokorpi,
Haataja et al. (2008) have well documented the interrelation between neuromotor performance and grade of neuropsychological impairment. Children with slight motor coordination problems show a widespread neuropsychological impairment, while most important motor disturbances, as
reported in children with neurological abnormalities and CP, are related to
evident neuropsychological dysfunctions in attention and EF, and in manual and visual-constructional tasks.They conclude that, in spite of average intelligence, the degree of motor disturbances could predict neuropsychological disorders.
Other studies concerning working memory have been conducted in
preschoolers, but the evidence that developmental maturation of the prefrontal regions continues into adolescence validates prolonged follow up
studies. Saavalainen et al. (2007), in a group of 16 yrs old adolescents born
very preterm and without cognitive impairment, report findings of minor
neuropsychological disorders regarding only spatial WM deﬁcit. In a longitudinal study, 16 yrs old adolescents born very preterm without major disabilities showed a good outcome in school performance, if compared to their
full term peers (Saavalainen, Luoma, Laukkanen, Bowler, Määttä, Kiviniemi et al., 2007a). Though results are encouraging in observing only minor
neuropsychological deﬁcits in very preterm born individuals up to adolescence, we have to argue that participants enrolled to the study according
their gestational age, birth weight and Apgar score at 1’ and 5’ as the main
risk factors, do not have a documented clinical picture or concurrent disorder. Authors properly consider that, in spite of the documented good school
performance, individual history can enfold a speciﬁc impairment and that
parental monitoring or remedial support may have affected positively the
good outcome highlighting the role of environmental variables.
3.3 Visual, attention and memory dysfunctions
Visual, attention and memory dysfunctions have already in part been
discussed above as concurrent aspects of working memory dysfunctions.
Visual cognition occupies an important role among major dysfunctions affecting children born preterm, but significant differences demonstrate that visual perception seems to be less affected than visual-constructional skills. These findings suggest a neurodevelopmental disorder
62
Increased risk of neuropsychological disorder in children born preterm without major disabilities
in children born preterm that has been associated with specific dorsalstream pathway vulnerability. The dorsal-stream pathway is a brain area
(projecting from primary visual cortex to the parietal lobe) that is specialized for processing spatial information and in visual-motor planning.
The theory of dissociation between the dorsal-stream pathway and the
ventral pathway (projecting from primary visual cortex to the temporal
lobe), primarily associated with perceptual recognition of shape, form,
objects and faces, has received strong support from both animal research
as well as neuropsychological studies on patients with localized brain
damage (Santos, Duret, Mancini, Gire, & Deruell, 2009). As already reported above, visual spatial and constructional abilities are variously interrelated to dysfunctions observed in motor and working memory performances Saavalainen et al. (2007).
Attention deficits are commonly associated to ADHD that has frequently been reported in very preterm born children (Bayless & Stevenson,
2007; Conklin, Luciana, Hooper, & Yarger, 2007). Selective attention
deﬁcits and behavioural disorders have been documented in a group of 7-9
yrs age preterm children, using selective spatial and visual tests and ADHD
rating questionnaire for parents and teachers. Selective visual and spatial
attention deﬁcits showed to be signiﬁcantly related to ADHD rating scores
(Shum, Neulinger, O’Callaghan, & Mohay, 2008). The problem to differentiate ADHD and selective attentional deﬁcits dwells in its difﬁculty to assess a developmental process of ADHD. Early minor motor difﬁculties in
very preterm infants at 2 yrs corrected age have longitudinally been related
to selective attention deficits at 7-9 yrs (Jeyaseelan, O’Callaghan,
Neulinger, Shum, & Burns, 2006). As previously described, at this age central executive panel for working memory request more attentional resources and prolonged time employment (Saavalainen et al., 2007).
Memory dysfunctions more frequently appear to be a component of the
malfunctioning in other areas, especially in working memory or visual spatial memory. Functional neuro-anatomy of the hippocampus and the head
of the caudate nucleus has been studied using a functional Magnetic resonance Imaging (fMRI) technique during administration of memory tasks in
a group of adolescents born very preterm. Findings demonstrate no statistical difference with control group in activation of hippocampus and caudate
nucleus, supporting the hypothesis that spatial memory span deficits may
represent a dysfunction in executing a planned motor sequence, rather than
a deﬁcit in the ability to remember the spatial sequence. It also raises questions on the normative processes of brain maturation and potential inﬂuence of perinatal hypoxic-ischemic stress in preterm infants (Curtis,
Zhuang, Townsend, Xiaoping, & Nelson, 2006). An other study supports evidence of a non-specificity of memory deficits, bringing together memory
deficits with impairment in general cognitive performances (Narberhaus,
Segarra, Giménez, Junqué, Pueyo, & Botet, 2007).
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4. Conclusions
The review addresses the topic of neurodevelopmental risks in preterm
children. In order to analyze effective dysfunction in children born preterm
without major disabilities (CP, mental retardation) previous findings of a
general cognitive impairment in this population of children has not received consistent scientific agreement and has encouraged further research in this area to better assess speciﬁc neuropsychological skills and extend follow up to adolescent age.
Neuroanatomical findings are consistent with developmental brain
frontal lobe abnormalities and correlate with minor neurological dysfunctions which typically affect fine and gross motor development, executive
function and working memory, visual-constructional and attentional performances, while memory seems to work in interconnection with other
functions. Preterm birth could interfere with normal developmental brain
maturational steps with functional adjustments resulting in minor dysfunctions that are more evident in preschoolers born very preterm. The large
number of preterm children that tend to normalize in adolescence, with
more demanding neurodevelopmental pathways than term peers, support
the hypothesis of a neurodevelopmental adaptation that risks to drop into
dysfunctional neuropsychological outcome.
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Life Span and Disability / XII, 1 (2009), 67-82
Communication Impairments in Patients
with Right Hemisphere Damage
Valeria Abusamra,1 Hélène Côté,2 Yves Joanette2 & Aldo Ferreres1
Abstract
Right brain damages can manifest deﬁcits of communicative skills, which
sometimes cause an important inability. The communication impairments
following a right hemisphere damage are distinct from those in aphasia
and may affect discursive, lexico-semantic, pragmatic, and prosodic components of communication.
It is calculated that this troubles affect almost a 50% of this patients. However, these impairments have essentially been studied separately and their
possible coexistence in a same individual is still unknown. Moreover, the
clinical profiles of communication impairments following a right hemisphere damage, including their correlation with underlying cognitive
deﬁcits, are still unreported.
The goal of this article is to offer an overview of the verbal communication deﬁcits that can be found in right-hemisphere-damaged individuals.
These deﬁcits can interfere, at different levels, with prosody, the semantic
processing of words and discourse and pragmatic abilities.
In spite of the incapability that they produce, communicational impairments in right brain damaged are usually neglected. Probably, the sub-diagnostic is due to the lack of an appropriate classiﬁcation or to the absent
of adequate assessment tools. In fact, patients with right brain damages
might present harsh communicational deficits but perform correctly on
aphasia tests because the last ones are not designed to detect this kind of
deﬁcit but left brain damaged impairments.
Increasing our knowledge about the role of the right-hemisphere in verbal
communication will have major theoretical and clinical impacts; it could
* Received: 18 February 2009, Revised: 19 May 2009, Accepted: 19 May 2009.
1
Universidad de Buenos Aires and Hospital Eva Perón - Buenos Aires.
Université de Montréal and Centre de Recherche, Institut Universitaire de Gériatrie de
Montréal, e-mail: valeriaa@ﬁbertel.com.ar
2
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facilitate the diagnosis of right brain patients in the clinical circle and it
will help to lay the foundations to elaborate methods and strategies of intervention.
Keywords: Right hemisphere, Verbal communication, Lexical, Semantics
1. Introduction
Over the last ﬁfty years, the incorporation of pragmatics into neurolinguistics has had a strong impact on the way language impairments are conceived theoretically and clinically. Whereas late-19th-century linguistic advances emphasized the predominant role of the left hemisphere, studies
during the second half of the 20th century demonstrated that rich and efﬁcient verbal communication depends on the soundness of both cerebral
hemispheres.
For a long time, the clinical description of acquired language disorders
(aphasias) was based on traditional linguistic components such as phonology, semantics, and morphosyntax. Thanks to contributions made by psycholinguistics and modern cognitive psychology, the very concept of language has evolved radically since the 1950s. Prosodic, discursive, and pragmatic aspects were added to the traditional dimensions of linguistics, all of
which now have their own place within the study of acquired language disorders, particularly those caused by right brain hemisphere damage
(RHD). It is known today that the right hemisphere plays an essential role
in human behavior and that it intervenes decisively in the regulation of the
pragmatic dimension of verbal communication.
Although the language disorders that are present in individuals with
RHD are, on the whole, different to those seen in patients with left hemisphere damage (LHD), this does not make them any less signiﬁcant from a
clinical point of view. A patient with RHD can, amongst other things, show
difficulty transmitting communicative intentions based on emotions, on
modulation of speech parameters, and on indirect meanings of discourse or
ﬁgurative language. This has consequences not just for the affected individual, but also for those around them, and the functional and psychological
impacts on the person’s life can be considerable. Language disorders constitute a signiﬁcant obstacle to developing and maintaining satisfactory interpersonal relationships, and they can be detrimental to the resumption of
an active social and professional life.
Today, advances in theoretical and clinical knowledge allow us to better
recognize the presence of communication disorders linked to impairment
of the right cerebral hemisphere. However, affected individuals still go unnoticed by health professionals even today. Language deficits caused by
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Communication Impairments in Patients with Right Hemisphere Damage
RHD are, as a whole, different to those seen in aphasia. Despite their difﬁculties in processing the elemental structures of language, aphasic patients
can often make use of contextual keys in order to communicate. Those with
RHD have the opposite problem: although their phonological and syntactic abilities remain intact, they have serious difﬁculties in establishing adequate relationships between language and the context in which it is being
used (Abusamra, Martínez Cuitiño, Wilson, Jaichenco, & Ferreres, 2004).
As a consequence, problems caused by RHD cannot be assessed using
classic aphasia evaluation batteries such as the Montreal–Toulouse Protocol for Language Assessment of Aphasia (Nespoulous, Lecours, Lafond,
Lemay, Puel, Joanette et al., 1992), the Battery for the Analysis of Aphasic
Deficit (Miceli, Laudanna, & Burani, 1994; Ferreres, Grus, Jacubovich,
Jaichenco, Kevokian, Piaggio et al., 2000), or the Boston Diagnostic Aphasia
Examination (Goodglass & Kaplan, 1979; 1983).
Insofar as it is possible for these patients to present little or no deﬁcit in
formal language tests, their pragmatic impairments go unnoticed when
these tools are applied.
There are some specially designed protocols used to assess communication in individuals with RHD: Right Hemisphere Communication Battery,
RHCB (Gardner & Brownell, 1986); Mini Inventory of Right Brain Injury,
MIRBI (Pimental & Kingsbury, 1989); Right Hemisphere Language Battery,
RHLB (Bryan, 1989); Ross Information Processing Assessment, RIPA
(Ross-Swain, 1996); Evaluation of Communication Problems in Right
Hemisphere Dysfunction, revised (Halper, Cherney, Burns, & Mogil, 1996),
Protocolo de Evaluación de Funciones Lingüísticas y Comunicativas (Protocol for the Evaluation of Linguistic and Communicative Functions),
PELCHD (Labos, Zabala, Atlasovich, Pavón, & Ferreiro, 2003).
Despite the high quality of these protocols, most have theoretical and
methodological limitations (Joannette & Ansaldo, 1999). In some cases,
there has been difficulty adapting theoretical foundations to clinical demands: designs seem to be based more on practical requirements than explicit theoretical foundations. Besides, no battery takes all of the processes
that have been associated with RHD into account.
In 2004, Joannette, Ska & Côté introduced a protocol to be used for the
evaluation of language deﬁcits in patients with RHD into clinical settings.
2. Historical Context
The systematic scientific study of the brain began during the Renaissance. However, for several centuries, the roles of the two hemispheres
were not differentiated. It was not until the middle of the 19th century that
the studies on the neurological impairment of language carried out by Marc
Dax (1836) and Paul Broca (1865) began to demonstrate the asymmetrical
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nature of the brain’s functional organization. For almost a century afterwards, control of the language function was assigned exclusively to the left
hemisphere, which was also considered the only cause of aphasia as a result
of brain damage. As such, while the concept of cerebral dominance was asserted, the right hemisphere took on the dubious status of ‘the minor hemisphere’. With the exception of the speciﬁc roles attributed to it by a few authors (such as Jackson, 1879), the right hemisphere was sunk in a century of
obscurantism and the theory of cerebral dominance denied it any role in
the maintenance of linguistic behavior.
In the 1960s the right hemisphere began to be assigned a role in linguistic abilities as a result of two groups of observations, one clinical and the
other experimental.The ﬁrst suggestions emerged from detailed clinical observation of patients with brain damage (Eisenson, 1959; 1962; Critchley,
1962; Weinstein, 1964). Nevertheless, these pioneers did not manage to create a precise, detailed description of right hemisphere function and stayed
within the conceptual frameworks of the time. Eisenson (1962) talked of
impairments to the “supra-ordinal” aspects of language; whereas Critchley
(1962) noted the loss of “subtle” abilities, but was unable to classify them in
more detail. The clinical impressions of Eisenson and Critchley are in keeping with the impairments in lexico-semantics, prosodic, discursive, and/or
pragmatic skills that are described today.
The second set of events that connected the right hemisphere with language abilities took place some years later. At the end of the 1960s and during the 1970s, systematic studies of the language capacities of each of the
hemispheres began, amongst others, on individuals with surgical section of
corpus callosum (Code, Wallesch, Joanette, & Lecours, 2002). These observations, together with others carried out with a different methodological focus, confirmed the predominance of the left cerebral hemisphere in language. At the same time, they allowed the right hemisphere’s capacities in
the treatment of word meaning and other aspects of language to be identiﬁed. As more appropriate conceptual models were provided, clinical investigation led to the recognition of the language components that could be affected in patients with RHD. From then on, descriptions of the impact of
right brain damage have aimed to investigate communication impairments.
3. The right hemisphere and verbal communication
Right hemisphere damage can cause serious disruptions to verbal communication and can affect the prosodic, lexico-semantic, discursive, and
pragmatic components of language. These components are not impaired in
all patients with RHD, but approximately 50% of patients are believed to
have been affected in one or more of them, which could constitute a significant disability (Joanette, Goulet, & Daoust, 1991). Thus, as brain damage
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Communication Impairments in Patients with Right Hemisphere Damage
can affect one or more of the components, different impairment proﬁles are
generated according to which have been affected.
3.1 Prosodic impairments
Prosody is the modulation of the suprasegmental parameters of speech
(tone, intensity, and duration) which takes place in order to transmit a communicative, linguistic, or emotional intention. Linguistic prosody includes
emphatic lexical accentuation (e.g. JOHN drinks coffee vs John drinks
COFFEE) and the expression of modality or of the sentence type (e.g.
statement, question). Emotional prosody refers to the variations in intonation that allow emotions to be transmitted (e.g. happiness, irritation). Numerous studies have demonstrated the presence of prosodic disorders in individuals with RHD, in terms of both perception and production (Pell,
1999; Walker & Daigle, 2000). The impairment of emotional prosody may
be a very evident trait, but deﬁcits in linguistic prosody are equally marked.
In terms of production, from a clinical point of view, patients with RHD
may display monotonous intonation caused by a ﬂattening of the prosodic
curve. Those with RHD tend to produce similar emotional intonation patterns to normal subjects, but with signiﬁcantly reduced tone variation. This
difﬁculty in modulating tone can affect the transmission of linguistic messages, especially those that communicate linguistic modality (Pell, 1999).
In terms of perception, patients with RHD show difficulty in understanding the intention carried by their interlocutor’s prosody. Faced with an
emotional prosody perception task, the identiﬁcation of feelings transmitted by the interlocutor may be disturbed if the sentence has a neutral linguistic content (Tompkins & Mateer, 1985; Walker & Daigle, 2000). Although the dominant role in linguistic prosody perception is often attributed to the left hemisphere, recent studies have shown that patients with
LHD perform worse than control subjects in tasks in which they have to
distinguish the intonation patterns that express linguistic modality (Walker
& Daigle, 2000). In short, a person with right brain damage can have serious
difﬁculties in processing linguistic prosody and emotional prosody, both receptively and productively.
3.2 Lexico-semantic impairments
The lexico-semantic dimension of language refers to the ability to understand and express words. People with RHD do not tend to exhibit
marked anomia during conversation, and, on the whole, they carry out convergent tasks like naming images without difﬁculty, although some authors
have observed minor deﬁcits in some cases (Diggs & Basili, 1987). In contrast, subtle lexico-semantic disorders have been observed in a signiﬁcant
number of people with RHD when the task demands divergent semantic
treatment For example, in tasks where instructions require the production
of the highest possible number of words according to a given criteria (for
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example, “say the names of as many animals as you can” or “say as many
words that begin with p as you can”), those with RHD tend to produce fewer words than control subjects and to activate peripheral semantic links,
producing words that are not strongly connected and which are not very
prototypical. Despite initially contradictory results, it has been shown that
individuals with RHD may have difﬁculty when evocation must follow semantic, phonological, or orthographic criteria (Sabourin, Goulet, &
Joanette, 1988) or even in the absence of any criteria, when evocation is
completely free (Beausoleil, Fortín, Le Blanc, & Joanette, 2003).
The capacity to establish semantic relationships between words may also be altered in patients with RHD (Chiarello & Church, 1986). This difﬁculty is more marked when there is a need to access words in a precise category (e.g. vegetables, tools) in order to explain the relationship (Myers &
Brookshire, 1995). Lexico-semantic deﬁcits in individuals with RHD are especially apparent when processing isolated words of low concreteness or
low frequency (Joanette & Goulet, 1990).
Finally, another specific difficulty that may be present in patients with
RHD has to do with processing metaphoric or non-literal meanings of
words (Gagnon, Goulet, Giroux, & Joanette, 2003). Patients with RHD obtain worse results than normal subjects when trying to choose from a pair
of images the one that appropriately depicts a metaphorical enunciation;
frequently, they opt for the one showing a literal interpretation of the enunciation (Winner & Gardner, 1977; Myers & Linebaugh, 1981).
3.3 Discursive impairments
Discursive skills allow information to be transmitted by a speaker to an
interlocutor in a conversational, procedural, or narrative form. Information
exchange involves the expressive and receptive levels of communication,
depending on whether a message is being transmitted or received. The discursive dimension has mainly been studied through narrative discourse,
and it is known that this ability can be affected by RHD.
As regards expression, the discourse of patients with RHD is often less
informative than that of control subjects, although a similar quantity of
enunciations is produced (Joanette, Goulet, Ska, & Nespoulous, 1986; Lojek-Osiejuk, 1996). Individuals with RHD provide less information than
normal subjects, and this information is organized more simply, despite
both groups’ narrative outputs being equal in terms of number of words
and general discourse structure. Measurements of the formal aspects of lexicon and syntax show that both groups function equivalently (Jainchenco,
Abusamra, & Molina, 2004). As such, the deﬁcit must lie elsewhere: lack of
coherence and a strong tendency to tangential discourse are all part of the
typical profile of individuals with RHD (Davis, O´Neil-Pirozzi, & Coon,
1997). According to Wapner, Hamby and Gardner (1981), what distinguishes patients with RHD from aphasic patients is their tendency to make in74
Communication Impairments in Patients with Right Hemisphere Damage
appropriate comments or to stray from the topic of the story. For example,
the patient OP, who was evaluated with the MEC Protocol narrative discourse test (see Appendix, 1), produced the following discourse:
There was a farmer who was digging a hole uh uh uh uh well he was digging a hole
until at a certain depth...uh uh uh uh...er. who was digging a well eh eh eh so he was
digging with a shovel and a pick ..uh uh uh... objects that don’t look like what we
call shovel and pick I mean they have really something to do with the ground...not
only uh uh uh...generally a wine...the farmer moves the it it it more with shovel
than pick or at least like a pick.And so he went down to a certain depth and he was,
was tired, it was night and so and the next day...he sees the well has collapsed I
mean collapsed from a part of of of of You don’t remind me any more...
At the receptive level, many studies show that patients with RHD have
difﬁculty integrating the elements of a story into a coherent whole, which
would allow them to make the inferences necessary to understand the text
adequately. Integration difficulties become more intense when listening
conditions are not ideal (Titone, Wingfield, Waters, & Prentice, 2001). In
general, individuals with RHD often do not grasp – or initially grasp but
subsequently lose – the main idea of a piece of discourse, and have problems suggesting a title for a story or even choosing a sentence that summarizes the main topic. This attitude is in total contrast to that of normal subjects, who willingly cast secondary elements aside in order to maintain the
global coherence of the story.
Problems in producing and understanding discourse are made particularly manifest in the task of retelling a story. In these cases, patients
tend to introduce digressions of a personal nature as well as critiques of
the story’s content. Sometimes, they may provide inadequate conclusions
or produce a different story based on a specific detail of the original (tangential speech). Patients with RHD adopt a specific attitude when the
story contains contradictory or unusual information. Not only are they
capable of remembering the unusual elements in detail, they also have a
tendency to justify them.
Patients with RHD have difﬁculty making inferences and forming syntheses, and have trouble with some aspects of executive functions. For example, correlations have been observed between performance at tasks that
require verbal inhibition and are dependent on executive functions, and
text processing. Patients with RHD fail at some neuropsychological tests
like the Hayling Test (Burgess & Shallice, 1997; Abusamra, Miranda, & Ferreres, 2007), a verbal completion test that measures the capacity to initiate
and inhibit verbal information. The Hayling test is structured around two
different sections. In the ﬁrst section (initiation), the task consists of completing a sentence in a logical fashion with a word that is consistent with the
context of the sentence. For example, “Juan greeted Laura with a… KISS,
HUG, etc.” In the second (which measures suppression), subjects must
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complete each sentence with a word that is inconsistent with the context:
“On the ﬁrst line, write your… PILLOW, BOOMS, etc.”
This difﬁcult in inhibiting the correct option and producing a word that
is far from the syntactic semantic context of the sentence correlates directly with the altered performance that patients show in text comprehension
tasks.
As mentioned above, in recent years a hypothesis has arisen which suggests that the performance of poor comprehenders could be due to a difﬁculty in inhibiting irrelevant information (Gernsbacher, 1990). Suppressing
unnecessary information not only reduces interferences, it also prevents information overload on working memory. If successful comprehension depends on constructing mental representations and subsequently updating
them, then selecting adequately from relevant material, focusing on the
main information, and inhibiting irrelevant information would be an essential step. When this mechanism loses operational capacity – as is the case
with poor comprehenders – comprehension is affected because activation is
indiscriminate, and the system is overloaded and lacking in other available
resources.
3.4 Pragmatic impairments
Pragmatics are the linguistic and extralinguistic skills that allow an individual to process (understand and/or express) communicative intentions in
a speciﬁc situational context (Gibbs, 1999). From this point of view, a speaker intends to produce a certain effect in the listener and hopes the listener
will recognize it. This recognition of the speaker’s intention establishes an
intentional pact, which is what makes communication possible. As such, understanding what another person is saying to us involves much more than
knowing the traditional meanings of words and the relationships between
them. It implies understanding the systematic relationship that is formed
between what we want to say and what we actually say, between what is said
and what is not, between the explicit and the implicit.
As a discipline, pragmatics is at the crossroads between different ﬁelds
of study: philosophy, linguistics, sociology, anthropology, and psychology. It
studies how speakers understand and produce communicative acts in a concrete speech situation; that is, it is related to the use and interpretation that
speakers give speciﬁc enunciations in a particular context.
Pragmatic skills are especially implicated in the production and interpretation of different forms of figurative language (indirect speech acts,
irony, sarcasm, humor etc.) in which the explicit or literal content of the
message does not coincide with the communicative intention.
One of the salient characteristics of patients with RHD is their inability
to respect the principle of cooperation that regulates conversation.
Amongst other things, they have difﬁculty respecting turn-taking, maintaining appropriate visual contact with their interlocutor, and controlling the
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Communication Impairments in Patients with Right Hemisphere Damage
progression and coherence of the topic during the communicative exchange. Some also ﬁnd it complicated to adapt their verbal production to
the context of the knowledge shared with each interlocutor (Chantraine,
Joanette, & Ska, 1998). In this situation, patients’ contributions may seem
repetitive or redundant, or, in contrast, they may consider certain information to be common knowledge even when it is not.
Damage to the right hemisphere can, in some cases, cause substantial
changes to an individual’s communicative behavior, affecting their capacity
to adapt their messages to their interlocutor and the situational context.
From a receptive point of view, some patients with RHD have difﬁcult
understanding speech acts in which the intention is not explicitly mentioned in the linguistic message. The comprehension of indirect enunciations entails going beyond their literal meaning and depends on the use of
personal knowledge and an understanding of the context. The difﬁculty increases when the indirect enunciation is not conventional (Stemmer,
Giroux, & Joanette, 1994). Indeed, patients don’t usually have difﬁculty interpreting conventional, established indirect speech acts like “Could you
pass me the salt?”They do, however, ﬁnd it hard to interpret indirect speech
acts generated by specific references to the context of the conversational
exchange. For example: “Oscar is moving house next Saturday. He knows it’s
going to be a tough job because he has to take a lot of boxes to his new house.
He runs into a friend in the street and, after telling him that he’s moving, he
says, ‘What are you doing this weekend?’”
Although they have already been dealt with in the section on lexico-semantic impairments, metaphors – like indirect speech acts, sarcasm, or irony
– translate an intention which is different to the initial literal meaning. As
such, they are also an object of study for pragmatics.
What follows is an example of how the patient OP fails to interpret
metaphors (see Appendix, 2).
E: What does this phrase mean: My friend’s mother-in-law is a witch?
P: Let’s change also one word: My son-in-law’s mother-in-law is a witch?
E And so what does it mean?
P.I know she is a person who hasn’t had a pleasant life, throughout her
marriage.That...that she’s about to be separated from her husband; I’m referring to the mother-in-law of my son-in-law (ha, ha, ha)
E. OK it’s not important- it’s the same.
P. Certainly! The mother-in-law of my son-in-law. The mother-in-law of
my son-in-law is a witch!
E What does being a witch mean?
P Because the woman is separated, because all her life she has criticized
her husband for the way he is; only seen in his defects, who has kept his
daughter all her life under a glass bell and she’s now a poor lady because
she can’t ﬁnd the ﬁancè her mother would like.
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E So what does witch mean, then?
P What does it speciﬁcally mean? It means being tied-down to religious
sects, to religions, to umbanda… who knows, there are so many.
E So therefore, “The mother-in-law of my son-in-law is a witch”? Does it
mean the mother-in-law of my friend practices black magic? And the
mother-in-law of my friend has many brooms and she is also a bad person an rude?
P: It’s absolutely clear. My friend’s mother-in-law has many brooms...no!
My friend’s mother-in-law practices black magic.
The patient is unable to understand the metaphor not only because he
interprets each option literally, but also because he cannot avoid referring
to himself with each metaphor he is presented with. This behavior, strongly
linked to the literal, is one of the peculiarities of patients with RHD.
4. Communication impairment proﬁles
Very few studies have dealt with the occurrence rate of communication
impairments and the possible clinical proﬁles in patients with RHD. However, clinical experience clearly demonstrates that not all patients with
RHD have trouble with the communication deﬁcits described thus far. According to Joanette et al. (1991), approximately 50% of patients may be affected by one or more communicative impairments. This proportion is similar to that of people with LHD who suffer persistent language disorders
(aphasias). When present, deﬁcits seem to be the result of cortical damage,
generally in the perisylvian area, as is the case with aphasia. However, a recent study on a random group of patients with RHD found that around
80% of the sample showed communication impairments when diagnosed
using structured clinical observation as well as formal evaluation (Côté,
Payer, Giroux, & Joanette, 2007).
The way in which communication deﬁcits present themselves clinically is
also very signiﬁcant. As happens with aphasias, not all patients with RHD
and communicative disorders have the same deﬁcit pattern. In some cases,
only one of the components (prosody, semantic processing, discourse, or
pragmatics) is affected; in others, the impairment can be detected in more
than one component. As such, the clinical patterns of communication impairments are heterogeneous. The work of Côté et al. (2007) focused on this
issue by applying a hierarchical cluster analysis to the results of 28 patients
with RHD using MEC protocol. The study identiﬁed four groups on the basis of the similarity of patient results in protocol tasks that evaluated communication skills. In the ﬁrst group, impairments were observed in the four
areas the protocol evaluates: lexico-semantic, discursive, prosodic, and
pragmatic skills. The second group was characterized by having retained its
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Communication Impairments in Patients with Right Hemisphere Damage
discursive skills, relatively speaking. None of the skills of the third group
were affected, and the fourth only showed a deﬁcit in their lexico-semantic
skills. This same study found no correlation between the location of the
RHD and the pattern of impairment to communicative skills. However, the
third group (which obtained normal results) showed a high incidence of
subcortical damage. On the other hand, the majority of patients with frontal
damage were in group two (characterized by the relative retention of discursive skills).
In short, communication impairments can be observed in at least half of
all patients with RHD. When these impairments manifest themselves, they
can take a variety of clinical forms, from an isolated disorder in one component of communication to various clinical profiles associated with impairments in more than one component. For this reason, physicians must be
especially careful in their diagnosis, and should not expect all patients with
RHD to behave identically.
5. Conclusions
The association between the left hemisphere in right-handed people and
language ability has recently been explored in more detail. The right hemisphere in right-handed people has also proved to contain some skills for
processing certain components of language, more related to content than to
form. Along these lines, it has been proved that RHD can cause impairments to prosody, the semantic processing of words, and discursive and
pragmatic skills. Although the exact origins of this disorder remain unknown, it is thought that they may correspond to speciﬁc deﬁcits in patients
with RHD, to impairments that can be present both in individuals with
RHD and LHD, or even to a non-speciﬁc impact on the limited availability
of cognitive resources.
Although the rate of occurrence of communication disorders in patients
with RHD is yet to be determined, no estimates place it below 50%. In clinical practice, these patients tend to be under-diagnosed, which is due as
much to a lack of clinical suspicion as to the fact that the batteries which
evaluate aphasia do not detect their impairments. The speciﬁc evaluation
tools that are now available allow non-select populations of patients with
RHD to be studied. This will allow the occurrence rate of communication
impairments to be reliably determined, which will, in turn, have an impact
on the development of treatment techniques and the adaptation of relevant
health policies.
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Enclosed
1. Narrative text - MEC Protocol (Joanette et al., 2004; Ferreres et al.,
2007)
John is a farmer from the north. He has been busy for several days digging a well on his land. The work is almost over.
This morning John has arrived to ﬁnish his work and sees that during
the night the well has collapsed and half of it is ﬁlled with earth. He’s very
upset about this. He thinks for some minutes and says to himself, “I have an
idea.” He leaves his shirt and cap on the edge of the well, hides the pick and
pail, and climbs up a tree to hide himself.
Later, a neighbor passes by and approaches John to talk to him a little.
When he sees his shirt and cap he thinks John is working at the bottom of
the well. The fellow passes near by, bends down a little, and sees the well
half-ﬁlled with dirt and starts to desperately cry out, “Help! Help! Friends!
Come immediately! John is buried under the well.!...”The neighbors run towards the well and start digging to save poor John.When the neighbors stop
taking away the earth, John comes down the tree, approaches them and
says, “Thanks a lot, you’ve been a great help.”
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2. Examples of metaphors - MEC Protocol (Joanette et al., 2004; Ferreres
et al., 2007)
1) The Chemistry Professor is a sweet
A. The Chemistry professor is made of chocolate
B. The Chemistry professor is very desirable and very attractive
C. The Chemistry Professor produces sweets
2) Is my friend’s mother-in-law a witch?
A. My friend’s mother-in-law practices black magic
B. My friend’s mother-in-law has many brooms
C. My friend’s mother-in-law is very mean and rude.
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Life Span and Disability / XII, 1 (2009), 83-110
International Literature Review on WHODAS II
(World Health Organization Disability Assessment Schedule II)
Stefano Federici,1 Fabio Meloni,2 & Alessandra Lo Presti1
Abstract
This review is a critical analysis regarding the study and utilization of the
World Health Organization Disability Assessment Schedule II (WHODAS II) as a basis for establishing speciﬁc criteria for evaluating relevant
international scientiﬁc literature. The WHODAS II is an instrument developed by the World Health Organisation in order to assess behavioural
limitations and restrictions related to an individual’s participation, independent from a medical diagnosis. This instrument was developed by the
WHO’s Assessment, Classification and Epidemiology Group within the
framework of the WHO/NIH Joint Project on Assessment and Classiﬁcation of Disablements.
To ascertain the international dissemination level of for WHODAS II’s
utilization and, at the same time, analyse the studies regarding the psychometric validation of the WHODAS II translation and adaptation in other
languages and geographical contests. Particularly, our goal is to highlight
which psychometric features have been investigated, focusing on the factorial structure, the reliability, and the validity of this instrument.
International literature was researched through the main data bases of indexed scientific production: the Cambridge Scientific Abstracts – CSA,
PubMed, and Google Scholar, from 1990 through to December 2008. The
following search terms were used: “whodas”, in the ﬁeld query, plus “title”
and “abstract”.
* Received: 19 March 2009, Revised: 8 May 2009, Accepted: 8 May 2009.
1 Department of Human and Educational Sciences, University of Perugia, Interdisciplinary
Research Centre on Disability and Technologies for Autonomy (CIRID) “Sapienza” University of Rome, e-mail: [email protected]
2
Ph.D. in Cognitive, Psycho-physiological, and Personality Psychology, Interuniversity
Center for Research on Cognitive Processing in Natural and Artificial System (ECONA) “Sapienza” University of Rome.
3
Interdisciplinary Research Centre on Disability and Technologies for Autonomy
(CIRID) “Sapienza” University of Rome.
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The WHODAS II has been used in 54 studies, of which 51 articles are published in international journals, 2 conference abstracts, and one dissertation abstract. Nevertheless, only 7 articles are published in journals and
conference proceedings regarding disability and rehabilitation. Others
have been published in medical and psychiatric journals, with the aim of
indentifying comorbidity correlations in clinical diagnosis concerning patients with mental illness. Just 8 out of 51 articles have studied the psychometric properties of the WHODAS II. The instruments have been translated into 11 languages and administered to a total of 88,844 subjects. Finally, the WHODAS II is prevalently used in the medical ﬁeld, with major
emphasis in the specialities of psychiatry, general medicine, and rehabilitation.
All studies point out that WHODAS II as an effective and reliable instrument in order to assess the disability, individual functioning and participation levels. Furthermore, they often suggest administering the WHODAS II along with quality of life measures. Finally, the studies about the
psychometric properties of the instrument agree in considering the WHODAS II a reliable and valid tool for disability assessment.
Keywords: WHODAS II, WHO classiﬁcations, Biopsychosocial model,
Disability classiﬁcations
1. Introduction
1.1. The classiﬁcations of disability: ICIDH and ICF
1.1.1. The ICIDH
Since 1948 the World Health Organization (WHO) has been the specialized agency of the United Nations to review the international nomenclature of diseases and standardize the methods of diagnosis (WHO, 1948).
The success obtained from the edition of International Classiﬁcation of Disease (ICD) led, in the early 1970s, to the preparation of a classiﬁcation of
the consequences of disease. Since 1975 there has been in circulation, as an
internal document of the WHO, a version of the International Classiﬁcation
of Impairments, Disabilities, and Handicaps (ICIDH). Subsequently, the
WHO requested Philip Wood to collect the material produced until then
and transform it into a classification. In 1980 the WHO published the results, the ICIDH, in a book for study and research (World Health Organization (WHO), 1980; cfr. also: Pfeiffer, 1998; Üstün, Bickenbach, Badley, &
Chatterji, 1998). The aim of the ICIDH was to clarify some concepts and
terminology that were used with reference to disability, to facilitate research and policy choices in an area of growing importance. The classiﬁcation has been translated into many languages and used to conduct statistical surveys on population, to encode information on the health of people
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International Literature Rewiew on WHODAS II
and as a starting point for the implementation of social and welfare policies.
The ICIDH has an unquestionable merit: it introduced, from the health
point of view, a ﬁrst-time distinction and deﬁnition of terms that, until then,
had been used interchangeably, creating considerable confusion among
health professionals.
The ICIDH proposes a tripartite distinction between Impairment, Disability and Handicap, deﬁned as follows:
- Impairment: any loss, or abnormality, of psychological, physiological or
anatomical structures or functions.
- Disability: any limitation or loss (due to an impairment) of ability to
perform an activity or variations in the way considered normal for a human
being.
- Handicap: disadvantage experienced by a particular person, the result
of an impairment or a disability that limits or prevents the opportunity to
ﬁll the role usually just one person (in relation to age, sex and socio-cultural factors).
In the deﬁnition of handicap a clear causal relationship is established between handicap and other conditions, i.e. the handicap is always the result
of an impairment or the consequence of a disability. Therefore, the impairment, or disability, or both, are necessary so that we can talk about handicap; and yet, they are not sufficient, since not all impairments produce
handicap. It is essential, according to the ICIDH, that the handicap is lived
or experienced as such, that the person is aware of the disproportion between expected performance and that actually given because of the condition of disability.
The ICIDH was designed with the intent to offer a non-medical model
of disability, and this is demonstrated by the substantial lack of aetiological
factors. And yet, as the ICIDH declares that among the three levels of impairment, disability and handicap there is a relationship that can not be simply linear, literature evaluates the classiﬁcation as the product of a cultural
context in which the handicap was considered the product of an impairment and/or a disability. While it is acknowledged that the ICIDH is undoubtedly a tool developed with the goal of utilizing a common and universal language on disability at an international level (Üstün, Bickenbach,
et al., 1998; Bickenbach, Chatterji, Badley, & Üstün, 1999; Buono & Zagaria,
1999; Üstün, Chatterji, et al., 2001), it has been the focus of great controversy, especially animated by the supporters of the social model of disability
who considered the Classiﬁcation too oriented towards the medical model
(Chamie, 1995; Pfeiffer, 1998), despite what is claimed by its editors (Bury,
2000). In any case, we can only note that each of the three key concepts of
classification is defined in relation to a concept of normality that it is assumed to be related primarily to biomedical categories.
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1.1.2. The ICF
In 2001, the World Health Organization adopted the new International
Classiﬁcation of Functioning, Disability and Health. The ﬁnal document collects work published over the last decade and which has had as its goal revision of the ICIDH. The nine years dedicated to completing the review
process will certainly give an idea of the complexity of the problems dealt
with and the extent of the criticisms raised by the proposal for a new Classiﬁcation (Üstün, Bickenbach, et al., 1998; Pfeiffer, 1998; Hurst, 2000; Pfeiffer,
2000). As has already been pointed-out, the criticisms about several conceptual aspects of the ICIDH, which has determined the need for a revision, are:
- The reference to a medical model of disability, which is sequential and
causal, according to which disability (or/and handicap) is regarded as the
direct outcome of an impairment of the individual.
- The application of an approach based on a linear succession considering the handicap as a direct consequence of impairment.
- The presence of a negative terminological bias, as most conditions are
described by using a negative terminology.
From an operative viewpoint, the main limitations characterising the
ICIDH were given by the use of terms which were inadequate with reference to the contemporary scientiﬁc context, as well as by the impossibility
to compare data from different contexts (Chatterji et al., 2001; Rehm et al.,
2001; Trotter et al., 2001; Üstün, Chatterji et al., 2001).
The linear progressive perspective applied in the old classification is
abandoned in the ICF, to implement a circular interactive model in which
functioning and disability of a person are considered as the product of the
dynamic interaction between health conditions and contextual factors, including personal and environmental ones.
The structure of this new classification can thus be divided into two
“parts”, each one including two “components”: Part 1, “Functioning and
Disability”; including the following components: a) body functions and
structures and b) activities and participation; Part 2, “Contextual factors”,
including the following components: a) environmental factors and b) personal factors. Each component is formed by several domains, and each domain is organised in categories at different levels, which represents the
units of classiﬁcation.
Moreover, in contrast with the ICIDH, the ICF sets a common, “standard” language, which not only allows a common understanding and use by
operators belonging to different professional areas, but is also easily applicable to remarkably different environmental contexts.
There are two consequences stemming from this approach:
- First, the context and the life environment of each individual dramatically inﬂuences the level of her/his functioning in presence of a given disability and, given the same impairment, different contexts have very diverse
effects on individual functioning and adaptation.
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International Literature Rewiew on WHODAS II
- Secondly, any person during her/his life can experience a changing state
of health which, in a given environment, becomes disabling, i.e. inﬂuencing
negatively on the person’s functioning abilities.
The ICF, wanting to describe functional states of each individual and
his/her limitations, proposes a dynamic model of mutual interaction between health conditions and contextual factors.
The presence of an impairment necessarily implies a “cause”, which may
not be sufﬁcient to explain the result of impairment.
Therefore, the disability is the complex and multiderminated outcome of
three main factors: the health of an individual, the personal and environmental factors. The triadic reciprocal causation of factors exceeds the linear
etiological prospect which from altered states of health leads to disability.
In the new biopsychosocial model, the disability, understood both as a limitation of individual abilities as well as restrictions in social participation, is
certainly related to a state of health, conventionally regarded as pathological, but not necessarily caused by the same condition as in the linear model
of the ICIDH.
The biopsychosocial model provides a perspective on the health concept
that is not always in line with the medical one. Since different environments
may have a very different impact on the same individual with a certain
health condition, like the ICF notes «two persons with the same disease
may have different levels of functioning and two persons with the same level of functioning not necessarily have the same condition of health» (ICF, p.
12). The interconnections between biological, structural, functional factors,
of abilities, social participation, various contexts and personal and psychological dimensions do not allow simple aetiologies, focusing only on the
physiopathological, anatomical and neurological levels.
1.2. Traditional tools for measuring and assessing the disabilit.
Specific rating scales for measuring disability can be regarded as the
Barthel Index and FIM (Functional Independence Measure). The ﬁrst one
has the advantage that it can be administered quickly and without special
training; the second one involves slightly longer times of administration and
requires speciﬁc training.
The Barthel Index (Mahoney & Barthel, 1965) is an ordinal scale with
total score from 0 (totally dependent) to 100 (totally independent) and
comprising 10 items. The index shows the level of autonomy in various activities: feeding, taking a bath, personal hygiene, dressing, rectum and bladder control, transfers to bathroom or chair/bed, walking and climbing stairs.
The performance should be established using the best available data, the
usual sources are direct questions to the patient, friends/relatives and nurses, but also direct observation and common sense are important. Excellent
validity and reliability are the strong points of the index that, however, appears to be subject to a “plateau” effect in highlighting the changes in more
89
Life Span and Disability
Federici S. / Meloni F. / Lo Presti A.
complex functions. Reflecting a background determined by the cultural
prevalence of the medical model, the Barthel index assigns an absolutely
relevant weight to functions such as continence or mobility and not the
least, also explores self-sufﬁciency in cognitive areas. Moreover, it is not a
real standard, since there are at least 8 different versions published that differ in the number of items and methodology in assignment of scores.
Also the FIM (Keith, Granger, Hamilton, & Sherwin, 1987) measures
self-sufficiency in 18 activities of daily living (like dressing, feeding, locomotion, etc.) that cumulatively provide a quantitative index of disability.
Beyond the advantages of scale, such as the statistical validity, the simplicity of implementation and the ability to compare data at the international
level, thanks to its wide distribution, the FIM is an instrument that assesses
the level of self-sufﬁciency of a person from the perspective of an outside
observer, leaving no space for self-evaluation.
1.3. The assessment of disability according to the biopsychosocial model
The direct application of the ICF and its codes appeared since the beginning as a rather demanding and complex task: for this reason, the WHO
introduced the ICF Checklist (WHO, 2003), which allows the description of
the functioning proﬁle of a subject based on 128 codes selected among the
thousands forming the whole ICF (in the second level there are already 362
codes, that become 1.424 in the third and fourth level) (ivi, p. 3). The ICF
checklist is not really an instrument for measure or assessment: its utility
comes from the possibility to “open” the codes on the basis of the identiﬁcation of a person’s functioning problem, and at the same time to establish
whether, and in which measure, the environment acts either as barrier or
conversely facilitates the individual.
The ICF Checklist is administered to the patient or his/her caregiver. It
is structurally divided into four parts: the introductory part, which includes
biographical data, the ICD-10 code, and the specification of information
source; the ﬁrst part, containing the list of codes of Body Functions (b) and
Body Structures (s); the second part, comprising the list of codes for Activities and Participation (d); and ﬁnally, the third part, containing the list of
codes relating to Environmental Factors (e). In Italy, the translation, validation, and a ﬁrst application in the research and clinical ﬁeld were coordinated by the Disability Italian Network (DIN) in 2004.
The WHODAS II, however, proposes to evaluate the disability from a
different viewpoint from that of the normal tools of measurement. In fact,
while the ICF Checklist was developed as a practical tool to elicit clinicians’
overall impressions of a patient’s condition and to record information on
functioning and disability, the WHODAS II rates the nature of disability directly from the patient’s responses. Therefore, the ICF Checklist offers an
external (objective) view on disability while the WHODAS II does an internal (subjective) one.
90
International Literature Rewiew on WHODAS II
The WHODAS II assesses the limitations in activities and restrictions in
participation experienced by an individual, independently from a medical
diagnosis. Speciﬁcally, the instrument is designed to evaluate the functioning of the individual in six activity domains:
1. Understanding and communicating
2. Getting around
3. Self-care
4. Getting along with people
5. Life activities
6. Participation in society
There are different forms of the WHODAS II, each of them has been
structured in relation to the number of item (6, 12, 24, 12 + 24 and 36), the
mode of administration (self-administered or administered by an interviewer) and the user to whom the interview is proposed (subject, clinician,
caregiver). In any case, the WHO recommends the use of the 36 item form
administered by an interviewer for completeness.
The participants interviewed are asked to indicate the experienced level
of “difﬁculty” (none, mild, moderate, severe, extreme), by taking into account
the way in which they normally perform a given activity, and including the
use of whatever support or/and help by a person (aids). For every item receiving a positive answer, the subsequent question asks the number of days
(“in the last 30 days”) in which the interviewed has met such a difﬁculty, in
terms of a 5-point ordinal scale: 1) Only one day; 2) Up to a week = from 2
to 7 days; 3) Up to two weeks = from 8 to 14 days; 4) More than two weeks
= from 15 to 29 days; 5) Every day = 30 days.
Then, the person is asked how much the difﬁculties have interfered with
his/her life.
Respondents should answer the questions according to the following
references:
1. Degree of difﬁculty (the increase in the effort, discomfort or pain, or
slowness, or differences in general);
2. Health conditions (disease or illness, or injury, or mental or emotional
problems, or related to alcohol, or problems associated with drug abuse);
3. The last 30 days;
4. The average between “good” and “bad” days;
5. The way in which they normally perform the activity.
The items that refer to activities not experienced in the last 30 days are
not classiﬁed.
2. Purpose and methodology
The general aim of the study presented here is to check the spread of the
WHODAS II at international level and in different ﬁelds of application
91
Life Span and Disability
Federici S. / Meloni F. / Lo Presti A.
Speciﬁcally, given the widespread consent universally reached about the
usefulness of the WHODAS II, we need to verify its reliability in assessing
the functioning and the self-perception of disability in persons with normal
abilities and disabled participants, both through the analysis of some psychometric characteristics such as reliability, validity and factorial structure,
either through correlational analysis. The bibliographic review, in the next
paragraph, is intended to provide an overview, as complete as possible, of
scientiﬁc studies that have been made using the WHODAS II, since its publication until now. In most of these studies, moreover, the WHODAS II was
used in combination with other assessment tools: this has allowed us to verify its convergent validity, and its compatibility and complementarities with
these instruments.
A survey on the main databases of international indexed scientific production, Cambridge Scientific Abstracts – CSA and PubMed, using as key
search the term “whodas” in the “title” and “abstract” field query, it was
found that the WHODAS II was used in 54 works. Table 1 shows the list
of the 54 studies, specifying for each the type of study, the number of participants, the nationality, the field of research and the main purposes and
results.
92
United
States
Italy
India
Canada
Quantitative
empirical study
of clinical
treatment
Qualitative
empirical study
Correlational
quantitative
empirical study
Correlational
quantitative
empirical study
Psychometric
quantitative
empirical study
3. Badr et al. (2007). Role of Gender
in Coping Capabilities among
Young Visually Disabled Students.
4. Banerjee et al. (2008). Prevalence
of depression and its effect on
disability in patients with agerelated macular degeneration.
5. Baron et al. (2008). The clinimetric
properties of the world health
organization disability assessment
schedule II in early inflammatory
arthritis.
6. Bonnewyn et al. (2005). The
impact of mental disorders on daily
functioning in the Belgian
community.
7. Buist-Bouwman et al. (2008).
Psychometric properties of the
World Health Organization
Disability Assessment Schedule
used in the European Study of the
Epidemiology of Mental Disorders.
8. Chisolm et al. (2005). The WHODAS II: psychometric properties in
the measurement of functional
health status in adults with acquired
hearing loss.
Psychometric
quantitative
empirical study
United
States
Epidemiological Belgium
correlational
quantitative
empirical study
Psychometric
Netherlands
quantitative
empirical study
Egypt
Nationality
Type of study
Articles published in international
journals
1. Alexopoulos et al. (2003).
Problem-solving therapy versus
supportive therapy in geriatric
major depression with executive
dysfunction.
2. Annicchiarico et al. (2004).
Qualitative profiles of disability.
Tab. 1 - International literature on WHODAS II
Disability
and
rehabilitatio
n
Psychiatry
8796
380
Medicine
Medicine
Disability
and
rehabilitatio
n
Disability
and
rehabilitatio
n
Psychiatry
Area of
research
Psychiatry
2419
172
53
200
96
25
Subjects
Definition of the psychometric
properties of the WHODAS II for a
sample of adults with onset of hearing
loss.
Validation of the version of WHODAS
used in the European Study of the
Epidemiology of Mental Disorders
(ESEMeD).
Assessing the impact of mental
disorders on daily functioning of the
Belgian population.
Evaluation of clinimetric properties of
the WHODAS II in patients with early
inflammatory arthritis.
Assessment of depression effects on
disability in patients with visual
macular degeneration.
Evaluation of the role of gender in
coping skills among young visually
disabled students.
Identification of profiles of functional
disability parallel to increased levels of
disability.
Comparison of the effectiveness of
problem-solving therapy and
supportive care in a group of elderly
subjects with executive dysfunction.
Purposes
Good reliability and
validity.
Good reliability and
validity and factorial
structure confirmed.
Correlation occurred.
Good reliability and
validity.
Correlation occurred.
Correlation occurred.
Identification of four
groups of individuals
with disabilities.
Effectiveness of
treatment for problemsolving recognized.
Results
International Literature Rewiew on WHODAS II
93
94
Belgium,
Germany,
Italy, Spain,
France and
Netherlands
Italy
Ireland
Epidemiological
correlational
quantitative
empirical study
Psychometric
quantitative
empirical study
Correlational
quantitative
empirical study
14. ESEMeD/MHEDEA 2000
investigators. (2004). Disability and
quality of life impact of mental
disorders in Europe.
15. Federici et al. (2008). World
Health Organization Disability
Assessment Schedule II (WHODAS
II): A contribution to the Italian
validation.
16. Gallagher et al. (2004). Levels of
ability and functioning: using the
WHODAS II in an Irish context.
Turkey
Correlational
quantitative
empirical study
Turkey
United
States
Psychometric
quantitative
empirical study
Correlational
quantitative
empirical study
Australia
Australia
Correlational
quantitative
empirical study
Psychometric
quantitative
empirical study
13. Ertugrul et al. (2004). Perception
of stigma among patients with
schizophrenia.
10. Chopra et al. (2008).
Comparison of disability and
quality of life measures in patients
with long-term psychotic disorders
and patients with multiple sclerosis:
an application of the WHO
Disability Assessment Schedule II
and WHO Quality of Life-BREF.
11. Chwastiak et al. (2003). Disability
in depression and back pain:
evaluation of the World Health
Organization Disability Assessment
Schedule (WHO DAS II) in a
primary care setting.
12. Donmez et al. (2005). Disability
and its effects on quality of life
among older people living in
Antalya city center, Turkey.
9. Chopra et al. (2004). The
assessment of patients with longterm psychotic disorders:
Application of the WHO Disability
Assessment Schedule II.
1304
500
21425
60
840
149
40
20
Disability
and
rehabilitatio
Disability
and
rehabilitatio
n
Psychiatry
Psychiatry
Medicine
Medicine
Psychiatry
Psychiatry
Correlational analysis between sociodemographic variables, causes of
disability and domains of individual
f
i i
d bili di
db
Detection of frequency and severity
level of disability for older people
living in Antalya city center; evaluation
of the effects of disability and variables
associated with it on living conditions.
Measurement of the relationship
between the symptoms and other
characteristics of schizophrenic patients
with self-perceived stigma.
Survey on the impact of the state of
mental health and specific mental and
physical disorders on work
performance and quality of life in six
European countries.
Validation of the Italian version of the
WHODAS II.
Evaluation of measurement properties
of the WHODAS II in two disorders
commonly encountered in primary care
setting.
Comparison between the application of
the WHODAS II and the WHOQOLBREF in the evaluation of patients with
psychotic disorders and multiple
sclerosis.
Evaluation of the WHODAS II in
patients treated for long-term psychotic
disorders.
Correlations confirmed.
Good validity and
reliability and factorial
structure confirmed.
Correlations occurred.
Correlation occurred.
Frequency and severity
detected; correlation
detected.
Good validity and
responsiveness to
change.
Correlation confirmed.
Good reliability and
validity.
Life Span and Disability
Federici S. / Meloni F. / Lo Presti A.
Psychometric
quantitative
empirical study
19. Hudson et al. (2008). Quality of
life in systemic sclerosis:
psychometric properties of the
World Health Organization
Disability Assessment Schedule II.
20. Janca et al. (1996). The World
Health Organization Short
Disability Assessment Schedule
(WHO DAS-S): a tool for the
assessment of difficulties in selected
areas of functioning of patients with
mental disorders.
21. Kemmler et al. (2003). Quality of
life of HIV-infected patients:
Psychometric properties and
validation of the German version of
the MQOL-HIV.
95
24. Kim et al. (2008). BDNF
genotype potentially modifying the
22. Kessler et al. (2003). The
Epidemiology of Major Depressive
Disorder: Results from the; National
Comorbidity Survey Replication
(NCS-R).
23. Kim et al. (2005). Physical health,
depression and cognitive function
as correlates of disability in an older
Korean population.
Correlational
quantitative
empirical study
18. Hudson et al. (2008). Clinical
correlates of quality of life in
systemic sclerosis measured with the
World Health Organization
Disability Assessment Schedule II.
Canada
Canada
India
South
Korea
Correlational
quantitative
500
1204
South
Korea
Correlational
quantitative
empirical study
207
9090
Germany
0
402
337
40
Epidemiological United
correlational
States
quantitative
empirical study
Psychometric
quantitative
empirical study
Analytical study Switzerland
Correlational
quantitative
empirical study
17. Goyal et al. (2002). Efficacy of
Menosan, a polyherbal formulation
in the management of menopausal
syndrome with respect to quality of
life.
Psychiatry
Psychiatry
Medicine
Medicine
Psychiatry
and medicine
Medicine
Medicine
Medicine
Survey on independent associations
between physical health, depression,
cognitive function and disability in the
older Korean population.
Survey on the role of a genotype
(val66met) of the neurotrophic factor
Survey on prevalence, correlation and
clinical relevance of the DSM disorders
and assessment of treatments adequacy.
Convergent validity study of the
German version of the
Multidimensional Quality of Life
Questionnaire for HIV/AIDS on a
sample of HIV-infected patients.
Study of characteristics of the
WHODAS-S as a clinical tool for
evaluation of individual functioning in
psychiatric subjects.
Study of validity of the WHODAS II in
patients with systemic sclerosis.
Identification of clinical features of
systemic sclerosis that best correlate
with the quality of life related to the
health of patients.
the WHODAS II.
Assessment of the effects of Menosan, a
polyherbal formulation, on quality of
life in menopausal women.
Correlation confirmed.
Correlations confirmed.
Detection of a good
utility and ease of use
and acceptable
reliability for use by
clinicians belonging to
different schools and
psychiatric traditions.
Good validity and
reliability of the
Multidimensional
Quality of Life
Questionnaire for
HIV/AIDS; convergent
validity demonstrated.
Prevalence, correlates
and clinical relevance
identified; inadequacy
of treatment detected.
Good validity.
Clinical correlates
identified.
Correlation confirmed;
efficacy of Menosan
demonstrated.
International Literature Rewiew on WHODAS II
96
380
Spain
United
States
Qualitative
empirical study
of translation
and adaptation
Correlational
quantitative
empirical study
30. McKibbin et al. (2004). Assessing
Disability in Older Patients With
Schizophrenia Results From the
WHODAS-II.
31. Mubarak AR. (2005). Social
functioning and quality of life of
people with schizophrenia in the
northern region of Malaysia.
32. Norton et al. (2004). Psychiatric
morbidity, disability and service use
amongst primary care attenders in
France.
33. Perini et al. (2006). Generic
effectiveness measures: Sensitivity to
symptom change in anxiety
130
New
Zealand
Correlational
quantitative
empirical study
124
Malaysia
France
Australia
Correlational
quantitative
empirical study
Correlational
quantitative
empirical study
Correlational
quantitative
empirical study
169
258
United
States
Psychometric
quantitative
empirical study
76
70
845
27. MaGPIe Research Group.
(2003). The nature and prevalence
of psychological problems in New
Zealand primary healthcare: a
report on Mental Health and
General Practice Investigation
(MaGPIe).
28. Matías-Carrelo et al. (2003). The
Spanish translation and cultural
adaptation of five mental health
outcome measures.
29. McArdle et al. (2005). The WHODAS II: measuring outcomes of
hearing aid intervention for adults.
New
Zealand
Correlational
quantitative
empirical study
26. MaGPIe Research Group.
(2004). General practitioner
recognition of mental illness in the
absence of a ‘gold standard’.
86
Qualitative
empirical study
25. Lastra et al. (2000). The
classification of first episode
schizophrenia: a cluster-analytical
approach.
Spain
empirical study
association between incident stroke
and depression.
Medicine
Psychiatry
Medicine
Disability
and
rehabilitatio
n
Medicine
Medicine
Medicine
Psychiatry
Psychiatry
Investigation on the relationship
between social functioning and quality
of life of people with schizophrenia in
Malaysia.
Investigation on the relationship
between psychiatric morbidity,
disability and use of services in French
patients.
Study with convergent measures on
sensitivity to change in people with
anxiety disorders.
Assessment of reactivity of the
WHODAS II to the short and long term
effects in applications of acoustic
devices.
Evaluation of reliability and validity of
the WHODAS II in older patients with
schizophrenia.
Spanish translation and adaptation of
five measures of mental health.
Study of the degree of disability and
other factors that influence the
recognition, management, course and
outcome of mental disorders in patients
of New Zealand.
Comparison between the general
practice of recognition of mental illness
and the cases identified by diagnostic
instruments and screening.
derived from the brain (BDNF) in the
association between stroke and
depression.
Check the classification of a
schizophrenic population into
subgroups for similar symptoms
profiles.
Convergent validity
demonstrated.
Correlations confirmed.
Strong evidence of
good reliability and
some evidence of good
validity.
Correlation confirmed.
Good reactivity of the
WHODAS II,
correlation detected.
Semantic, technical and
content equivalence
demonstrated.
Correlation is not
verified; variability
between instruments
and between clinical
opinion and screening
and diagnostic tests.
Correlations confirmed.
Division into
subgroups confirmed,
but not predictive.
Life Span and Disability
Federici S. / Meloni F. / Lo Presti A.
168
Poland
Epidemiological United
correlational
States
quantitative
empirical study
Germany
New
Zealand
Correlational
quantitative
empirical study
Psychometric
quantitative
empirical study
Correlational
quantitative
empirical study
Correlational
quantitative
empirical study
9282
United
States
Correlational
quantitative
empirical study
42. Scott et al. (2008). Mentalphysical co-morbidity and its
relationship with disability: results
1000
Netherlands
Psychometric
quantitative
empirical study
New
Zealand
697
12992
134
276
904
36. Post et al. (2008). Development
and validation of IMPAC T-S, an
ICF-based questionnaire to
measure activities and participation.
37. Pyne et al. (2003). Comparing the
Sensitivity of Generic Effectiveness
Measures With Symptom
Improvement in Persons With
Schizophrenia.
38. Pyszel et al. (2006). Disability,
psychological distress and quality of
life in breast cancer survivors with
arm lymphedema.
39. Roth et al. (2006). Sleep
Problems, Comorbid Mental
Disorders, and Role Functioning in
the National Comorbidity Survey
Replication.
40. Schlote et al. (2008). Use of the
WHODAS II with stroke patients
and their relatives: reliability and
inter-rater-reliability.
41. Scott et al. (2006). Disability in Te
Rau Hinengaro: The New Zealand
Mental Health Survey.
Germany
Psychometric
quantitative
empirical study
35. Pösl et al. (2007). Psychometric
properties of the WHODAS II in
rehabilitation patients.
32
Quantitative and Sweden
longitudinal
empirical study
disorders.
34. Pettersson et al. (2006). The effect
of an outdoor powered wheelchair
on activity and participation in users
with stroke.
Medicine
Disability
and
rehabilitatio
n
Psychiatry
Psychiatry
Medicine
Disability
and
rehabilitatio
n
Disability
and
rehabilitatio
n
Medicine
Disability
and
rehabilitatio
n
Study on relationship between the
disability and the presence of mental
disorders and chronic physical
conditions in the population of New
Zealand, controlling comorbidity, age
and sex.
Survey on mental-physical comorbidity
and on its relationship with disability.
Assessment of disability, psychological
distress and quality of life in breast
cancer Polish survivors with arm
lymphedema.
National survey on the prevalence of
sleep disorders, or the associations of
sleep disorders with role disorders
related to comorbidity of mental
disorders.
Measurement of the reliability of
WHODAS II with stroke patients and
their relatives.
Study with convergent measures on the
sensitivity of generic effectiveness in
improving the symptoms of people with
schizophrenia.
Validation of the IMPAC T-S, an ICFbased questionnaire to measure activity
and participation.
Validation of the German version of
the WHODAS II.
Self-evaluation of the limitations in
activities and restrictions in the
participation of people with stroke,
before and after the use of an outdoor
powered wheelchair.
Small correlation
identified.
Correlations identified.
Good reliability.
Correlations confirmed.
Correlations confirmed.
Good concurrent
validity, test-retest
reliability and internal
consistency.
Convergent validity
demonstrated.
Good validity and
reliability and factorial
structure confirmed.
Positive effects of
wheelchair found.
International Literature Rewiew on WHODAS II
97
98
Spain
United
States
United
States
Psychometric
quantitative
empirical study
Correlational
quantitative
empirical study
Psychometric
quantitative
empirical study
Canada
Netherlands
Correlational
quantitative
empirical study
Correlational
quantitative
empirical study
Turkey
Psychometric
quantitative
empirical study
45. Ulug et al. (2001). Reliability and
validity of the Turkish version of
the World Health Organization
Disability Assessment Schedule-II
(WHO-DAS-II) in schizophrenia.
46. van Tubergen et al. (2003).
Assessment of disability with the
World Health Organisation
Disability Assessment Schedule II
in patients with ankylosing
spondylitis.
47. Vázquez-Barquero et al. (2000).
Spanish version of the new World
Health Organization Disablement
Assessment Schedule II.
48. Von Korff et al. (2005).
Potentially Modifiable Factors
Associated With Disability Among
People With Diabetes.
49. Von Korff et al. (2008). Modified
WHODAS-II provides valid
measure of global disability but
filter items increased skewness.
50. Wang et al. (2006). Mental health
and related disability among
workers: A population-based study.
Review of selfGermany
administered
measures on the
health
44. Stucki et al. (2003). Assessment of
the impact of disease on the
individual.
Norway
Prospective
quantitative
empirical study
43. Soberg et al. (2007). Long-term
multidimensional functional
consequences of severe multiple
injuries two years after trauma: a
prospective longitudinal cohort
study.
from the World Mental Health
Surveys.
5383
934
4357
163
214
90
0
105
Medicine
Medicine
Medicine
Psychiatry
Medicine
Psychiatry
Medicine
Medicine
Survey on the prevalence of psychiatric
syndromes and related disability in a
population of adult workers.
Validation of a modified version of the
WHODAS II with filter items.
Identification of potentially modifiable
factors associated with disability in
people with diabetes.
Validation of the Spanish version of
the WHODAS II.
Convergent validity study in patients
with ankylosing spondylitis.
Validation of the Turkish version of
the WHODAS II in patients with
schizophrenia.
Implementation of an algorithm for the
selection of current measures for the
assessment of health conditions.
Evaluation, through prospective cohort
study, of the functioning and quality of
life in patients with severe multiple
injuries.
Good reliability and
general validity, but the
use of filter questions
adversely affects the
properties of the
instrument.
Prevalence and
correlations identified.
Correlations identified;
identification of factors.
Good validity and
reliability and factorial
structure confirmed.
Convergent validity
demonstrated.
About the WHODAS
states that the validity
and reliability of the
instrument are still
under investigation.
Good reliability and
validity.
Correlation identified.
Life Span and Disability
Federici S. / Meloni F. / Lo Presti A.
Korea
Correlational
quantitative
and qualitative
empirical study
1. Baumgartner J.N. (2004).
Measuring disability and social
integration among adults with
psychotic disorders in Dar es
Salaam, Tanzania.
Tanzania
Nationality
Total of subjects
Type of study
Dissertations
88844
245
Subjects
267
200
Italy and
United
States
Correlational
quantitative
empirical study
Subtotal of subjects
67
Canada
Psychometric
quantitative
empirical study
Subjects
1. Baron et al. (2005). Preliminary
study of the validity of the World
Health Organization Disease
Assessment Schedule (WHODAS
II) in patients with scleroderma.
2. Federici et al. (2003). A CrossCultural Analysis of Relationships
between Disability Self-Evaluation
and Individual Predisposition to
Use Assistive Technology.
Nationality
88332
1204
Type of study
Subtotal of subjects
Psychometric
quantitative
empirical study
Studies included in conferences
51. Yoon et al. (2004). Development
of Korean version of World Health
Organization Disability Assessment
Schedule II (WHODAS II-K) in
Community Dwelling Elders.
Area of
research
Psychiatry
Disability
and
rehabilitatio
n
Area of
research
Medicine
Neuropsychi
atry
Study on the relationship between the
severity of self-perceived disability and
indicators of social integration (marital
status, fertility and employment) in
adult patients with psychotic disorders
in Tanzania.
Correlation confirmed
between severity of selfperceived disability and
one indicator of social
integration: the
employment.
Results
Correlations identified.
Study on correlation between disability
self-evaluation, individual coping
strategies and individual
predisposition to the use of assistive
technologies.
Purposes
Good validity.
Results
Good validity and
reliability and factorial
structure confirmed.
Study on psychometric characteristics
of the WHODAS II in patients with
scleroderma.
Purposes
Validation of the Korean version of the
WHODAS II with elderly subjects.
International Literature Rewiew on WHODAS II
99
Life Span and Disability
Federici S. / Meloni F. / Lo Presti A.
3. Review of international literature on the WHODAS II
Among the 54 studies identified by following the method described
above, 51 are articles published in international journals, 2 were included
in the conferences and one is a dissertation. However, only seven articles
were published in journals or acts of conferences whose main object of interest is disability and rehabilitation (Federici, Scherer, Micangeli, Lombardo, & Olivetti Belardinelli, 2003; Annicchiarico, Gibert, Cortes, Campana, & Caltagirone, 2004; Gallagher & Mulvany, 2004; Chisolm, Abrams,
McArdle, Wilson, & Doyle, 2005; McArdle, Chisolm, Abrams, Wilson, &
Doyle, 2005; Pettersson, Törnquist, & Ahlström, 2006; Federici, Meloni,
Mancini, Lauriola, & Olivetti Belardinelli, 2009). The remaining works
were published in journals of medicine and psychiatry; the main purpose
of these studies is the identiﬁcation of correlations on comorbidity evaluations performed by clinicians about certain mental disorders. All these
studies have investigated the correlation between the 6 domains of the
WHODAS and/or its total score with the scores obtained on scales measuring depression (Alexopoulos, Raue, & Areán, 2003; Chwastiak & Von
Korff, 2003; Kemmler et al., 2003; Kessler et al., 2003; McKibbin, Patterson,
& Jeste, 2004; Yoon et al., 2004; Kim et al., 2005; Von Korff et al., 2005; Scott,
McGee, Wells, & Browne, 2006; Banerjee et al., 2008), pain (Chwastiak &
Von Korff, 2003; Stucki & Sigl, 2003; Pyszel, Malyszczak, Pyszel, Andrzejak, & Szuba, 2006; Soberg, Bautz-Holter, Roise, & Finset, 2007), schizophrenia and psychotic disorders (Janca et al., 1996; Lastra et al., 2000; Ulug,
Ertugrul, Gögüs, & Kabakçi, 2001; Pyne, Sullivan, Kaplan, & Williams,
2003; Baumgartner, 2004; McKibbin et al., 2004; Norton, de Roquefeuil,
Benjamins, Boulenger, & Mann, 2004; Mubarak, 2005; Chopra et al., 2008),
quality of life (Goyal & Kulkarni, 2002; Kemmler et al., 2003; Pyne, Sullivan, Kaplan, & Williams, 2003; Chopra, Couper, & Herrman, 2004; ESEMeD/MHEDEA 2000 investigators, 2004; Donmez, Gokkoca, &
Dedeoglu, 2005; Mubarak, 2005; Pyszel, Malyszczak, Pyszel, Andrzejak, &
Szuba, 2006; Pösl, Miriam, Alarcos Cieza, & Gerold Stucki, 2007; Soberg,
Bautz-Holter, Roise, & Finset, 2007; Baron et al., 2008; Hudson, Steele,
Taillefer, & Baron, 2008; Hudson, Thombs, Steele, Watterson, Taillefer &
Baron, 2008), sleep disorders (Roth et al., 2006), diabetes (Von Korff et al.,
2005), ageing (Alexopoulos et al., 2003;Yoon et al., 2004; Kim et al., 2005;
Donmez, Gokkoca & Dedeoglu, 2005), rheumatic disorders (Stucki & Sigl,
2003; van Tubergen et al., 2003; Baron, Hudson, & Taillefer, 2005), anxiety
disorders (Bonnewyn, Bruffaerts, Van Oyen, Demarest, & Demyttenaere,
2005; Perini, Slade, & Andrews, 2006), strokes (Schlote et al., 2008), coping
skills (Badr et al., 2007), cognitive functions (Kim et al., 2008), limitations
of activity and restrictions in participation (Post et al., 2008) or in epidemiological and comorbidity national and international surveys (Kessler et al.,
2003; MaGPIe Research Group, 2003; ESEMeD/MHEDEA 2000 investi100
International Literature Rewiew on WHODAS II
gators, 2004; MaGPIe Research Group, 2004; Bonnewyn et al., 2005; Donmez et al., 2005; Wang, Adair, & Patten, 2006; Buist-Bouwman et al., 2008;
Scott et al., 2008).
The results obtained in these studies emphasize, ﬁrst, that the WHODAS
II is a useful, reliable and valid tool for assessment of disability, functioning
and social participation, and is sensitive to changes like the SF-36 (Medical
Outcomes Study Short Form 36); secondly, it facilitates the use of the ICF as
a conceptual framework for the assessment of the limitations in activity and
participation, and effectively discriminates between normal/healthy and
disabled/sick people (Ertugrul & Ulug, 2004). Some studies suggest to using
the WHODAS II together with the SF-36 (Chwastiak & Von Korff, 2003;
Pyne et al., 2003; Baron et al., 2005; Von Korff et al., 2005; Perini et al., 2006;
Soberg et al., 2007) or with the WHO Quality of Life – short version
(WHQOL-BREF) in order to improve the health proﬁle (Goyal & Kulkarni, 2002; Kemmler et al., 2003; Chopra et al., 2004) or together with Coping
Inventory for Stressful Situations (CISS) and Matching Person and Technology (MPT) to assess the individual coping strategies and the predispositions to assistive technologies (Federici et al., 2003). Actually, the WHODAS II is a tool relatively complex and difﬁcult to administer with full cooperation in psychiatric patients who reported that they were healthy and
denied “emotional or mental problems” as described in the WHODAS II
(Chopra et al., 2004, p. 757).
Among the 51 articles, only eight have investigated the psychometric
properties of the WHODAS II (Vázquez-Barquero et al., 2000; Ulug et al.,
2001; Yoon et al., 2004; Baron et al., 2005; Chisolm et al., 2005; Buist-Bouwman et al., 2008; Von Korff et al., 2008; Federici et al., 2009) and one reports
the translation into Spanish and its adaptation to the Latino culture
(Matías-Carrelo et al., 2003).
Vázquez-Barquero and his/her collaborators (Vázquez-Barquero et al.,
2000) have studied the development of the Spanish version of the WHODAS II through a pilot cross-cultural analysis with 54 Spanish, 50 Cubans
and 59 Peruvians, male and female, adults. Factor analysis, analysis of redundancy and missing values were conducted. The scores of the modiﬁed
version of the instrument were compared with those of other countries. The
Authors, however, failed to reach a clear and deﬁnitive assessment of the
tool, merely to suggest further study on its psychometric properties.
Ulug et al. (2001) have assessed the reliability and validity of Turkish
version of the WHODAS II, in a study with 60 patients diagnosed with
schizophrenia. The Cronbach’s Alpha, calculated for each of the six domains, reached values between .60 and .90, making possible to assess an acceptable internal consistency of the instrument. Regarding construct validity, domain scores displayed signiﬁcant positive correlations with each other as well as with the total DAS score. According to the Authors, therefore,
the WHODAS II is able to distinguish patients from control subjects; in ad101
Life Span and Disability
Federici S. / Meloni F. / Lo Presti A.
dition, the results show that the Turkish version of the instrument has satisfactory requirements of validity and reliability.
The study of Yoon et al. (2004) was conducted to assess the Korean version of the WHODAS II, the sample consisted of 1204 elderly (aged 65
years or over) South Korean, community residents. In this study the WHODAS II-K showed high levels of internal consistency and reliability (splithalf, inter-rater and test-retest reliability). In the correlation analyses, scores
on the WHODAS II-K were signiﬁcantly correlated with the unfavorable
conditions in all variables on health condition and contextual factors. Partial correlations of scores on the WHODAS II-K with the health condition
were signiﬁcant even after controlling for contextual factors. Therefore, the
conclusion of the authors is that the WHODAS II-K is a reliable and valid
instrument for assessing disability in elderly population. More recently, a
preliminary study of validity was conducted on 67 Canadian subjects suffering from scleroderma. (The title of the poster appears as substantially
confusing. We have attributed this to a misprint). The short abstract also
does not provide sufﬁcient information for an assessment of the study.
Chisolm et al. (2005) examined the psychometric properties of the English version of the WHODAS II, in a sample of 380 adults with hearing loss.
The results of the analysis of convergent validity showed that the WHODAS II-E is correlated with the scores of the Abbreviated Proﬁle of Hearing Aid Benefit (APHAB), the Hearing Aid Handicap for the Elderly
(HHIE), and the SF-36 (short form). The internal consistency of scores in
different domains was satisfactory, except for the domain “Interactions and
relationships with others”.
The test-retest stability was adequate for the scores of all domains.
Buist-Bouwman et al., (2008) have assessed the factorial structure, the internal consistency and the discriminant validity of the ESEMeD version of
the WHODAS II, that is used in a European Study of Epidemiology of
Mental Disorders.The sample was 8796 adults.The study conﬁrms the structure of six factors of the WHODAS II, ﬁnds a good internal consistency of
the instrument and also the results of discriminant validity appear, on a preliminary analysis, as acceptable. Finally, Von Korff et al. (2008) consider the
psychometric properties of a WHODAS II modified for use in the World
Mental Health Surveys with the addition of filter items in different subscales. Internal consistency and validity of the modiﬁed WHODAS II are
generally supported, but the use of filter questions impairs measurement
properties of the instrument.
The most comprehensive psychometric analysis conducted, to date, on
the WHODAS II is the work of Pösl et al. (2007), from a doctoral thesis, unpublished, of M. Pösl (2004), under the direction of G. Stucki, University of
Monaco. The Authors evaluated the usefulness of the WHODAS II for
measuring functioning and disability in patients with musculoskeletal diseases, internal diseases, stroke, breast cancer, and depressive disorder. The
102
International Literature Rewiew on WHODAS II
validation of the German version of the WHODAS II was conducted in a sample
of 904 patients from 19 rehabilitation centers and clinics in Bavaria.There was,among
other things, a convergent validity with the SF-36.The conclusions of the study conﬁrm the structure of six domains of the WHODAS II; furthermore, the instrument
appears reliable and valid,and shows a sensitivity to change similar to that of the SF36 in the corresponding subscales.
Given all the studies mentioned above, the WHODAS II was translated
into the following languages: Italian (Federici et al., 2003;Annicchiarico et al.,
2004; ESEMeD/MHEDEA 2000 investigators, 2004; Federici et al., 2009),
English (Janca et al., 1996; Goyal & Kulkarni, 2002; Alexopoulos et al., 2003;
Chwastiak & Von Korff, 2003; Kessler et al., 2003; MaGPIe Research Group,
2003; Pyne J.M., Sullivan et al., 2003; Baumgartner, 2004; Chopra et al., 2004;
ESEMeD/MHEDEA 2000 investigators, 2004; Gallagher & Mulvany, 2004;
McKibbin et al., 2004; MaGPIe Research Group, 2004; Baron et al., 2005;
Chisolm et al., 2005; McArdle et al., 2005; Mubarak, 2005; Von Korff et al.,
2005; Perini et al., 2006; Roth et al., 2006; Scott et al. 2006; Wang et al., 2006;
Baron et al., 2008; Hudson et al., 2008), Swedish (Pettersson et al., 2006),
Dutch (van Tubergen et al., 2003; ESEMeD/MHEDEA 2000 investigators,
2004;), German (Kemmler et al., 2003; Stucki & Sigl, 2003;
ESEMeD/MHEDEA 2000 investigators, 2004; Pösl, 2007; Schlote et al.,
2008), Korean (Yoon et al., 2004; Kim et al., 2005), Polish (Pyszel et al., 2006),
Norwegian (Soberg et al., 2007), Turkish (Ulug et al., 2001; Ertugrul & Ulug,
2004; Donmez et al., 2005), Spanish (Lastra et al., 2000; Vázquez-Barquero et
al., 2000; Matías-Carrelo et al., 2003; ESEMeD/MHEDEA 2000 investigators,
2004), French (Norton et al., 2004; ESEMeD/MHEDEA 2000 investigators,
2004; Bonnewyn et al., 2005), Arabic (Badr et al., 2007). Korean, Polish and
Swedish translations are not provided by WHO (WHO, 2004).
In conclusion, the review of international literature on the WHODAS
shows a broad consensus on the reliability and validity of the instrument, although the lack of standardized scores for the different translations of the
WHODAS and the scarcity of particularly thorough studies does not guarantee that the cultural and psychometric requirements have been met by
the instrument.
4. Characteristics of the Italian version of the WHODAS II
The study of Federici et al. had as general aim to provide a contribution
to the validation of the Italian version of the WHODAS II, considering the
widespread consent about the usefulness of the tool. Specifically, the Authors wanted to test if the WHODAS II can be regarded as a reliable instrument to assess the functioning and the self-perception of disability in
persons with normal abilities and disabled participants, by the means of the
analysis of some psychometric characteristics such as the reliability (inter103
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Federici S. / Meloni F. / Lo Presti A.
nal homogeneity, Cronbach’s Alpha) and the validity (principal components analysis).
The Italian version of the WHODAS II has been adapted by the Authors
in the same format as the English one (36-Item Interviewer Administered,
Day Codes Version – February 2000), because this was the most recent version of the instrument. The Authors have deleted the Italian items of the
sections 3 and 5, since they were not further included in the last format of
the English version.
The WHODAS II was administered to a sample of 500 participants (185
males and 315 females,) divided into two sub-samples: 271 normal adults
and 229 disabled adults. Moreover, the disabled participant group comprised 111 motor disabled, 45 mental disabled and 73 sensory disabled. The
ﬁndings obtained show a good correspondence with the original structure
of the WHODAS II. Furthermore, the internal consistency of most subscales, estimated by means of the Cronbach’s Alpha, was found to be high
in the examined sample. Regarding the factorial structure of the instrument, the results conﬁrm the presence of six main factors, according to the
six activity domains expected to be assessed by the WHODAS II.
The study of Federici et al. presents, however, some limitations: ﬁrst, the
three subgroups of disabled do not match each other for participant number, age and sex; moreover, the enrolment of mental disabled respondents
ran into difﬁculties because it was not easy to access the centres for mental
disabled in Italy. Finally, neither the convergent validity nor the reliability
test – re-test of the instrument- has been studied. A research prosecution is
therefore desirable which proposes, among other things, achieving standard
scores for each macro-category of disability. Normative scores of disability
would be useful to integrate the self-evaluation of a single individual regarding his/her functioning in a speciﬁc context. Indeed, by comparing the
disability self-evaluation of a single individual to standard scores it will be
possible to assess how much each factor of the biopsychosocial determinants of the individual’s functioning inﬂuences the disability self-evaluation
of that person.
5. Conclusions
The WHODAS II is a tool for the self-evaluation of limitations in activities and restrictions in participation experienced by an individual, independently from a medical diagnosis. The self- evaluation of the instrument
appears a fundamental element compared to tests or questionnaires traditionally used for the assessment of disability, which usually reveal the point
of view of the caregiver or clinician who compiles them. The revolution in
the conception of disability, functioning and health represented by the biopsycho-social model and the new International Classification (ICF), con104
International Literature Rewiew on WHODAS II
ceptually compatible with it, reveals the absolute priority of an individual
subjective perspective, compared to any other etiopathological assessment,
both the objective and reducing-individual-to-object point of view of the
clinician.
The increasingly widespread utilization of the bio-psycho-social model
at international level and the simultaneous promotion of the use of the new
classiﬁcation, have brought, in recent years, even increasing use of the new
assessment tools, above all WHODAS II. This has involved, ﬁrst, the need
to accurately analyze the psychometric properties of the instrument, and in
particular its reliability, stability, internal consistency, convergent validity
and factorial structure.
This study has reviewed all studies published (until 2008) in the major
scientiﬁc search engines, where has described the use and/or validation of
WHODAS II. Research conducted identiﬁed 54 studies: 51 articles in international journals, 2 included in conferences and a doctoral dissertation. Of
these, only six articles were published in journals or acts of conferences
whose main object of interest is disability and rehabilitation. All studies
considered have assessed the degree of correlation between the scores of
the WHODAS II and the scores obtained by subjects on rating scales related to: depression, pain, schizophrenia and other psychotic disorders, quality of life, sleep disorders, diabetes, ageing , rheumatic disorders, anxiety disorders. All studies reviewed agree that the WHODAS II is an useful instrument for the assessment of disability, functioning and social participation,
suggesting quite often to join the administration with scales used for measuring quality of life (eg.: SF-36 or WHQOL-BREF). Among the 51 articles
only eight, however, have investigated the psychometric properties of the
instrument, concluding, almost unanimously, that the psychometric properties of the WHODAS II allow it to be to considered a valid and reliable instrument for the assessment of disability.
Among the main limitations that this review has helped to highlight, it is
important to note that, to date, there are no standardized scores for the various translations of the WHODAS and that the number of studies that
sought to investigate in detail the psychometric properties of the tool is particularly limited. Therefore, it would be desirable not only to universalize
the tool, but also to deepen the studies conducted so far, in order to determine more precisely the advantages and limitations of WHODAS II.
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Federici S. / Meloni F. / Lo Presti A.
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