XVI CONGRESSO SCIENTIFICO
INTERNAZIONALE
Velo-Cardio-Facial Syndrome
Educational Foundation
ROMA 3-5 LUGLIO 2009
AIdel22
Associazione Italiana Delezione Cromosoma 22
PSYCHOPATHOLOGIC ASPECTS AND
FEATURES IN CHILDREN AND
ADOLESCENTS WITH 22q11.2
DELECTION SYNDROME:
PRELIMINARY RESULTS OF A STUDY
ON 16 PATIENTS
UNIVERSITA’ DEGLI STUDI DI FIRENZE
Cattedra di Neuropsichiatria Infantile
Scordo M.R., Teatini S., Melani A., Turchi R., Varrella A., Simonetti C.
22q11.2 deletion syndrome (VCFS)
 SIGNIFICANT CLINICAL
VARIABILITY
 NO PATIENT EXPRESSES ALL
FEATURES
 EACH FEATURE MAY VARY IN
SEVERITY
Psychopathologic Aspect and Features
CHILDHOOD
 ATTENTION PROBLEMS
 ADHD
 ODD
 SOCIAL PROBLEMS AND WITHDRAWN
 AUTISM SPECTRUM DISORDER
 ANXIETY DISORDER
 MOOD DISORDER
 OCD
Baker et al. 2005; Gothelf et al. 2004
Niklasson et al. 2002; Swillen et Al, 2000
Psychopathologic Aspect and Features
ADOLESCENCE
 ANXIETY DISORDER
 OCD
 MOOD DISORDER
 EMOTIONAL LABILITY
 ATTENTION PROBLEMS
 PSYCHOTIC-LIKE SYMPTOMS
 SOCIAL PROBLEMS AND WITHDRAWN
Gothelf et al. 2007
Debbanè et al. 2006; Baker et al. 2005
Social Functioning
 Dependence on adults
 Difficulty interacting with peers
 Good school adjustment
 Difficulties participating in group activities
 Selective interests and repetitive behaviors
 Difficulty in managing changes
Frustration intolerance
Clinical research
PURPOSE
 Improve knolowledge of the psychopathologic
and behavioral characteristics of the syndrome
 Identify the needs of patients and families
 Apply specific treatments and rehabilitative
strategies
 Prevention: early management of any
psychical disorder
Methods
STANDARDIZED PROTOCOL OF EVALUATION
 anamnesis with the parents
 child observation in a both structurated and not
structurated context
 cognitive and linguistic evaluation
 K-SADS-PL
 CBCL
 VINELAND scale
 discussion with the parents regarding the elaborated
assessment
Child DEL22q11.2 4 -18
Sample Population
 16 cases (3y7m – 14y10m)
 62% (10) males
 38% (6) females
Average age : 8y 5m
LOCATION
TOSCANA
EMILIA ROMAGNA
LOMBARDIA
LIGURIA
PUGLIA
9
4
1
1
1
PROVENANCE TOSCANA
6%
6%
6%
PROVENANCE EMILIA
ROMAGNA
PROVENANCE LOMBARDIA
25%
57%
PROVENANCE LIGURIA
PROVENANCE PUGLIA
Cognitive profile
40%
35%
30%
25%
20%
15%
10%
5%
0%
38%
38%
24%
>85
70-85
QI
<85
CBCL results
 Internalizing problems
31.25%
 Externalizing problems
43.75%
 Total problems
56.25%
Withdrawn
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
Somatics
complaints
Anxious/
depressed
Social
problems
Thought
problems
Attention
problems
Delinquent
behavior
Aggressive
behavior
Internalizing
problems
Externalizing
problems
Total problems
IQ
1
M
3Y 7m
116
2
F
4Y 6m
94
3
M
4y 6m
82
4
F
4y 10m
107
5
M
5y
81
6
M
6y 9m
74
7
M
6y 11m
66
8
M
6y 11m
87
9
F
8y 3m
87
10
M
9y 6m
87
11
F
9y 8m
85
12
F
10y 6m
74
13
F
11y 11m
76
14
M
12y 11m
68
15
M
14y 10m
58
16
M
14y 10m
64
Clinical
TOTAL PROBLEMS
Our study
56,25%
Jansen, Netherlands
2007
General population
53,6%
18%
Tot Probl
No Tot
probl
82,6
80,2
m IQ
P > 0,3
NO SIGNIFICANT DIFFERENCE
NO RELATIONSHIP BETWEEN IQ AND TOT PROBLEMS
Jansen, Olanda 2007
65
64,2
60
56,3
55
Internalizing problems
50
< 10aa
> 10aa
70
65
65,4
60
P < 0.01
p>10y vs pz<10y
55
56,3
50
Externalizing problems
< 10aa
> 10aa
70
65
65,13
60
56,48
55
Total problems
50
< 10aa
> 10aa
Vineland results
Patients in clinical range
60%
50%
40%
30%
56,25%
50%
50%
20%
25%
10%
0%
Daily living skills Communication
Socialization
VINELAND
Motor skills
 31.25% NORMAL
 68.75% ADAPTIVE BEHAVIORS IMPAIREMENT
 50% Daily living skills
 25% Communication
 56.25% Socializzation
 50% Motor skills
 STRENGHT POINTS
25% COMMUNICATION
18.75% SOCIALIZATION
DAILY
LIVING
SKILLS
COMMUNICATION
SOCIALIZATION
MOTOR
SKILLS
IQ
1
M
3y 7m
2
F
4y 6m
94
3
M
4y 6m
82
4
F
5
M
5y
6
M
6y 9m
7
M
6y 11m
8
M
6y 11m
9
F
8y 3m
10
M
9y 6m
11
F
9y 8m
12
F
10y 6m
< media
13
F
11y 11m
< media
14
M
12y 11m
68
15
M
14y 10m
58
16
M
14y 10m
Clinical
116
<< media
4y 10m
107
< media
< media
< media
81
74
66
< media
< media
< media
< media
87
87
< media
< media
87
85
< media
74
< media
< media
<< media
< media
Strong points
< media
< media
76
64
Vineland results
 Daily living skills
<10y
 Communication
>10y
>10y
<10y
 Socialization
differences
significant
Motor
skills
>10y = <10y
>10y = <10y
K-SADS results
PSYCHIATRIC DIAGNOSIS
NO DIAGNOSIS
ADHD
43,75%
45,00%
ODD
31,25%
MOOD DIS.
25%
12,50%
PANIC DISORDER
6,25%
(DSMIV)
SP.PHOBIA
SOCIAL PHOBIA
6,25%
6,25%
43,75%
40,00%
35,00%
31,25%
30,00%
25%
25,00%
20,00%
15,00%
12,50%
10,00%
6,25%
6,25%
6,25%
5,00%
0,00%
N
IS
NO S
G
A
I
OD
ADH
D
R
IA
R
IA
RDE
O
HO B
O DD OD DIS O
HOB
S
P
I
P
.
D
L
C
IA
IC
MO
SP E
PAN
SO C
DEPRESSIVE
DISORDER
BIPOLAR
DISORDER
SOCIAL
PHOBIA
SPEC.
PHOBIA
PANIC
DISORDER
ADHD
ODD
X
PSYCHOTIC
SYMPTOMS
IQ
116
1
M
2
F
94
3
M
82
4
F
107
5
M
81
6
M
7
M
8
M
9
F
10
M
11
F
85
12
F
74
13
F
14
M
X
X
68
15
M
X
X
58
16
M
X
74
66
X
X
87
87
X
X
X
X
Diagnosis
76
X
Symptoms
87
64
Symptoms
 ATTENTION PROBLEMS
93.75%
 ANXIETY AND OBSESSIVE SYMPTOMS
50%
 EMOTIONAL LABILITY
50%
 SOCIALIZATION PROBLEMS
43.75%
 DEPENDENCE ON THE ADULT
43.75%
 SELECTIVE INTERESTS AND REPETITIVE BEHAVIORS 31.25%
 FRUSTRATION INTOLLERANCE
28.75%
 SOMATIC COMPLAINTS
6.25%
Symptoms
Pz >10 years:
 IRRITABILITY
 PSYCHOMOTOR AGITATION
 IMPULSIVITY
 SELF-MUTILATING BEHAVIOR
 DIFFICULTY CONTROLLING ANGER
 EPISODIC DYSCONTROL AND IMPULSIVE AGGRESSION
 COPROLALIA
 PSYCHOTIC SYMPTOMS
The pt > 10 y.o. seem to have
in our statistical analysis a higher prevalence of:
 Mood disorder
 Anxiety symptoms
 Psychotic symptoms
 Irritability and impulsivity
 Psychomotor agitation
 Episodic dyscontrol and impulsive auto- and
etero-aggressions
 Emotional lability
Discussion
 exiguity of our sample
 larger susceptibility -compared to the general
population- to develop psychopathologic problems
with age
 relevance of early diagnosis and early follw-up
 more appropriate therapeutic-rehabilitative strategies
for every single case
 strength points and quality of life importance
GRAZIE…