XVI CONGRESSO SCIENTIFICO INTERNAZIONALE Velo-Cardio-Facial Syndrome Educational Foundation ROMA 3-5...
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Transcript of XVI CONGRESSO SCIENTIFICO INTERNAZIONALE Velo-Cardio-Facial Syndrome Educational Foundation ROMA 3-5...
XVI CONGRESSO XVI CONGRESSO SCIENTIFICO SCIENTIFICO
INTERNAZIONALEINTERNAZIONALE Velo-Cardio-Facial Velo-Cardio-Facial
Syndrome Educational Syndrome Educational FoundationFoundation
ROMA 3-5 LUGLIO 2009ROMA 3-5 LUGLIO 2009
AIdel22 Associazione Italiana Delezione Cromosoma 22
PSYCHOPATHOLOGIC ASPECTS PSYCHOPATHOLOGIC ASPECTS AND FEATURES IN CHILDREN AND FEATURES IN CHILDREN
AND ADOLESCENTS WITH AND ADOLESCENTS WITH 22q11.2 DELECTION SYNDROME: 22q11.2 DELECTION SYNDROME:
PRELIMINARY RESULTS OF A PRELIMINARY RESULTS OF A
STUDY ON 16 PATIENTSSTUDY ON 16 PATIENTS
Scordo M.R., Scordo M.R., Teatini STeatini S., Melani A., Turchi R., Varrella A., Simonetti C.., Melani A., Turchi R., Varrella A., Simonetti C.
UNIVERSITA’ DEGLI STUDI DI FIRENZECattedra di Neuropsichiatria Infantile
22q11.2 deletion 22q11.2 deletion syndrome (VCFS)syndrome (VCFS)
SIGNIFICANT CLINICAL SIGNIFICANT CLINICAL VARIABILITY VARIABILITY
NO PATIENT EXPRESSES ALL NO PATIENT EXPRESSES ALL FEATURESFEATURES
EACH FEATURE MAY VARY IN EACH FEATURE MAY VARY IN
SEVERITYSEVERITY
Psychopathologic Aspect and Psychopathologic Aspect and FeaturesFeatures
CHILDHOODCHILDHOOD ATTENTION PROBLEMSATTENTION PROBLEMS ADHDADHD ODD ODD SOCIAL PROBLEMS AND WITHDRAWNSOCIAL PROBLEMS AND WITHDRAWN AUTISM SPECTRUM DISORDERAUTISM SPECTRUM DISORDER ANXIETY DISORDERANXIETY DISORDER MOOD DISORDERMOOD DISORDER OCDOCD
Baker et al. 2005; Gothelf et al. 2004Niklasson et al. 2002; Swillen et Al, 2000
ADOLESCENCEADOLESCENCE
ANXIETY DISORDERANXIETY DISORDER OCDOCD MOOD DISORDERMOOD DISORDER EMOTIONAL LABILITYEMOTIONAL LABILITY ATTENTION PROBLEMSATTENTION PROBLEMS PSYCHOTIC-LIKE SYMPTOMSPSYCHOTIC-LIKE SYMPTOMS SOCIAL PROBLEMS AND WITHDRAWN SOCIAL PROBLEMS AND WITHDRAWN
Psychopathologic Aspect and Psychopathologic Aspect and FeaturesFeatures
Gothelf et al. 2007 Debbanè et al. 2006; Baker et al. 2005
Social FunctioningSocial Functioning
Dependence on adults Dependence on adults Difficulty interacting with peersDifficulty interacting with peers Good school adjustment Good school adjustment Difficulties participating in group Difficulties participating in group
activitiesactivities Selective interests and repetitive Selective interests and repetitive
behaviorsbehaviors Difficulty in managing changes Difficulty in managing changes Frustration intoleranceFrustration intolerance
Clinical researchClinical research PURPOSEPURPOSE
Improve knolowledge of the Improve knolowledge of the psychopathologic and behavioral psychopathologic and behavioral characteristics of the syndrome characteristics of the syndrome
Identify the needs of patients and familiesIdentify the needs of patients and families
Apply specific treatments and Apply specific treatments and rehabilitative strategiesrehabilitative strategies
Prevention: early management of any Prevention: early management of any psychical disorderpsychical disorder
MethodsMethodsSTANDARDIZED PROTOCOL OF STANDARDIZED PROTOCOL OF
EVALUATIONEVALUATION
anamnesis with the parents anamnesis with the parents child observation in a both structurated child observation in a both structurated
and not and not structurated contextstructurated context cognitive and linguistic evaluation cognitive and linguistic evaluation K-SADS-PLK-SADS-PL CBCLCBCL VINELAND scaleVINELAND scale discussion with the discussion with the parents parents regarding the regarding the
elaboratedelaborated assessment assessment
Child DEL22q11.2 4 -18Child DEL22q11.2 4 -18
Sample PopulationSample Population
16 cases (3y7m – 14y10m)16 cases (3y7m – 14y10m)
62% (10) males62% (10) males
38% (6) females38% (6) females
Average age : 8y 5mAverage age : 8y 5m
LOCATION
TOSCANA EMILIA ROMAGNA LOMBARDIA LIGURIA PUGLIA
9 4 1 1 1
57%25%
6%6% 6%
PROVENANCE TOSCANA
PROVENANCE EMILIAROMAGNA
PROVENANCE LOMBARDIA
PROVENANCE LIGURIA
PROVENANCE PUGLIA
38% 38%
24%
0%
5%10%
15%20%
25%30%
35%40%
>85 70-85 <85
QI
Cognitive profileCognitive profile
CBCL resultsCBCL results
Internalizing problemsInternalizing problems31.25%31.25%
Externalizing problemsExternalizing problems 43.75%43.75%
Total problemsTotal problems 56.25%56.25%
WithdrawWithdrawnn
Somatics Somatics complaintcomplaint
ss
Anxious/ Anxious/ depresseddepressed
Social Social problemsproblems
Thought Thought problemsproblems
AttentionAttention
problemsproblemsDelinquenDelinquent behaviort behavior
AggressivAggressive behaviore behavior
11
22
33
44
55
66
77
88
99
1010
1111
1212
1313
1414
1515
1616
Internalizing Internalizing problemsproblems
Externalizing Externalizing problems 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 TOTAL PROBLEMSPROBLEMS
Our study Our study 56,25%56,25%
Jansen, Jansen, Netherlands Netherlands 20072007
53,6%53,6%
General General population population
18%18%
Jansen, Olanda 2007
NO RELATIONSHIP BETWEEN IQ AND TOTNO RELATIONSHIP BETWEEN IQ AND TOT PROBLEMSPROBLEMS
Tot ProblNo Totprobl
m IQ 82,6 80,2 P > 0,3 NO SIGNIFICANT DIFFERENCE
P < 0.01 p>10y vs pz<10y
< 10aa> 10aa
Internalizing problems
56,3
64,2
50
55
60
65
< 10aa
> 10aa
Externalizing problems
56,3
65,4
50
55
60
65
70
< 10aa> 10aa
Total problems
56,48
65,13
50
55
60
65
70
Vineland resultsVineland results
Patients in clinical rangePatients in clinical range
50%
25%
56,25%50%
0%
10%
20%
30%
40%
50%
60%
Daily living skills Communication Socialization Motor skills
VINELAND
31.25% 31.25% NORMALNORMAL
68.75% 68.75% ADAPTIVE BEHAVIORS ADAPTIVE BEHAVIORS IMPAIREMENTIMPAIREMENT
50% Daily living skills50% Daily living skills 25% Communication25% Communication 56.25% Socializzation56.25% Socializzation 50% Motor skills50% Motor skills
STRENGHT POINTSSTRENGHT POINTS 25% 25% COMMUNICATIONCOMMUNICATION18.75% SOCIALIZATION18.75% SOCIALIZATION
Clinical Strong points
DAILY DAILY LIVING LIVING SKILLSSKILLS
COMMUNICATICOMMUNICATIONON
SOCIALIZATIONMOTOR SKILLS
IQ
1 M 3y 7m << media 116
2 F 4y 6m 94
3 M 4y 6m 82
4 F4y 10m
107
5 M 5y < media < media < media 81
6 M 6y 9m 74
7 M 6y 11m < media 66
8 M 6y 11m < media < media < media 87
9 F 8y 3m 87
10 M 9y 6m < media < media 87
11 F 9y 8m 85
12 F 10y 6m < media 74
13 F 11y 11m < media < media << media < media 76
14 M 12y 11m 68
15 M 14y 10m 58
16 M 14y 10m < media < media < media < media 64
Vineland resultsVineland results
Daily living skillsDaily living skills >10y>10y <10y <10y
CommunicationCommunication >10y >10y <10y<10y
Socialization Socialization >10y = <10y>10y = <10y
Motor skillsMotor skills >10y = <10y>10y = <10ysignificant differences
K-SADS resultsK-SADS resultsPSYCHIATRIC DIAGNOSIS (DSMIV)
NO DIAGNOSIS ADHD ODD MOOD DIS. PANIC DISORDER SP.PHOBIA SOCIAL PHOBIA
43,75% 31,25% 25% 12,50% 6,25% 6,25% 6,25%
43,75%
31,25%
25%
12,50%
6,25% 6,25% 6,25%
0,00%
5,00%
10,00%
15,00%
20,00%
25,00%
30,00%
35,00%
40,00%
45,00%
DEPRESSIVE DISORDER
BIPOLAR DISORDER
SOCIAL PHOBIA
SPEC. PHOBIA
PANIC DISORDER
ADHD ODDPSYCHOTIC SYMPTOMS
IQ
1 M X 116
2 F 94
3 M 82
4 F 107
5 M 81
6 M X 74
7 M 66
8 M X X 87
9 F 87
10 M X 87
11 F 85
12 F 74
13 F X X 76
14 M X X 68
15 M X X 58
16 M X X 64
Diagnosis Symptoms
SymptomsSymptoms ATTENTION PROBLEMS ATTENTION PROBLEMS 93.75%93.75%
ANXIETY AND OBSESSIVE SYMPTOMS ANXIETY AND OBSESSIVE SYMPTOMS 50%50%
EMOTIONAL LABILITYEMOTIONAL LABILITY 50%50%
SOCIALIZATION PROBLEMS SOCIALIZATION PROBLEMS 43.75%43.75%
DEPENDENCE ON THE ADULT DEPENDENCE ON THE ADULT 43.75%43.75%
SELECTIVE INTERESTS AND REPETITIVE BEHAVIORSSELECTIVE INTERESTS AND REPETITIVE BEHAVIORS31.25%31.25%
FRUSTRATION INTOLLERANCE FRUSTRATION INTOLLERANCE 28.75%28.75%
SOMATIC COMPLAINTS SOMATIC COMPLAINTS 6.25% 6.25%
SymptomsSymptoms
Pz >10 years:Pz >10 years:
IRRITABILITYIRRITABILITY
PSYCHOMOTOR AGITATIONPSYCHOMOTOR AGITATION
IMPULSIVITYIMPULSIVITY
SELF-MUTILATING BEHAVIORSELF-MUTILATING BEHAVIOR
DIFFICULTY CONTROLLING ANGER DIFFICULTY CONTROLLING ANGER
EPISODIC DYSCONTROL AND IMPULSIVE AGGRESSION EPISODIC DYSCONTROL AND IMPULSIVE AGGRESSION
COPROLALIACOPROLALIA
PSYCHOTIC SYMPTOMSPSYCHOTIC SYMPTOMS
The pt > 10 y.o. The pt > 10 y.o. seem to have seem to have in our statistical analysis a higher in our statistical analysis a higher
prevalence of:prevalence of: Mood disorder Mood disorder Anxiety symptomsAnxiety symptoms Psychotic symptomsPsychotic symptoms Irritability and impulsivity Irritability and impulsivity Psychomotor agitationPsychomotor agitation Episodic dyscontrol and impulsive Episodic dyscontrol and impulsive
auto- and etero-aggressionsauto- and etero-aggressions Emotional labilityEmotional lability
DiscussionDiscussion exiguity of our sampleexiguity of our sample
larger susceptibility -compared to the larger susceptibility -compared to the general population- to develop general population- to develop psychopathologic problems with agepsychopathologic problems with age
relevance of early diagnosis and early follw-relevance of early diagnosis and early follw-
upup
more appropriate therapeutic-rehabilitative more appropriate therapeutic-rehabilitative strategies for every single casestrategies for every single case
strength points and quality of life strength points and quality of life importance importance
GRAZIE…