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ATTENTION PROBLEMSATTENTION PROBLEMS ADHDADHD ODD ODD SOCIAL PROBLEMS AND WITHDRAWNSOCIAL PROBLEMS AND WITHDRAWN AUTISM SPECTRUM DISORDERAUTISM SPECTRUM DISORDER ANXIETY DISORDERANXIETY DISORDER MOOD DISORDERMOOD DISORDER OCDOCD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LABILITY ATTENTION PROBLEMSATTENTION PROBLEMS PSYCHOTIC-LIKE SYMPTOMSPSYCHOTIC-LIKE SYMPTOMS SOCIAL PROBLEMS AND WITHDRAWN SOCIAL PROBLEMS AND WITHDRAWN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…