1. XVI CONGRESSO SCIENTIFICO INTERNAZIONALE Velo-Cardio-Facial Syndrome Educational Foundation ROMA 3-5 LUGLIO 2009 AIdel22 Associazione Italiana Delezione Cromosoma 22

2. PSYCHOPATHOLOGIC ASPECTS AND FEATURES IN CHILDREN AND ADOLESCENTS WITH 22q11.2 DELECTION SYNDROME: PRELIMINARY RESULTS OF A STUDY ON 16 PATIENTS Scordo M.R., Teatini S., Melani A., Turchi R., Varrella A., Simonetti C. UNIVERSITA DEGLI STUDI DI FIRENZE Cattedra di Neuropsichiatria Infantile

3. 22q11.2 deletion syndrome (VCFS) SIGNIFICANT CLINICAL VARIABILITY SIGNIFICANT CLINICAL VARIABILITY NO PATIENT EXPRESSES ALL FEATURES NO PATIENT EXPRESSES ALL FEATURES EACH FEATURE MAY VARY IN SEVERITY EACH FEATURE MAY VARY IN SEVERITY

4. Psychopathologic Aspect and Features CHILDHOOD ATTENTION PROBLEMS ATTENTION PROBLEMS ADHD ADHD ODD ODD SOCIAL PROBLEMS AND WITHDRAWN SOCIAL PROBLEMS AND WITHDRAWN AUTISM SPECTRUM DISORDER AUTISM SPECTRUM DISORDER ANXIETY DISORDER ANXIETY DISORDER MOOD DISORDER MOOD DISORDER OCD OCD Baker et al. 2005; Gothelf et al. 2004 Niklasson et al. 2002; Swillen et Al, 2000

5. ADOLESCENCE ANXIETY DISORDER ANXIETY DISORDER OCD OCD MOOD DISORDER MOOD DISORDER EMOTIONAL LABILITY EMOTIONAL LABILITY ATTENTION PROBLEMS ATTENTION PROBLEMS PSYCHOTIC-LIKE SYMPTOMS PSYCHOTIC-LIKE SYMPTOMS SOCIAL PROBLEMS AND WITHDRAWN SOCIAL PROBLEMS AND WITHDRAWN Psychopathologic Aspect and Features Gothelf et al. 2007 Debbanè et al. 2006; Baker et al. 2005

6. Social Functioning Dependence on adults Dependence on adults Difficulty interacting with peers Difficulty interacting with peers Good school adjustment Good school adjustment Difficulties participating in group activities Difficulties participating in group activities Selective interests and repetitive behaviors Selective interests and repetitive behaviors Difficulty in managing changes Difficulty in managing changes Frustration intolerance Frustration intolerance

7. Clinical research PURPOSE Improve knolowledge of the psychopathologic and behavioral characteristics of the syndrome Improve knolowledge of the psychopathologic and behavioral characteristics of the syndrome Identify the needs of patients and families Identify the needs of patients and families Apply specific treatments and rehabilitative strategies Apply specific treatments and rehabilitative strategies Prevention: early management of any psychical disorder Prevention: early management of any psychical disorder

8. Methods STANDARDIZED PROTOCOL OF EVALUATION anamnesis with the parents anamnesis with the parents child observation in a both structurated and not structurated context child observation in a both structurated and not structurated context cognitive and linguistic evaluation cognitive and linguistic evaluation K-SADS-PL K-SADS-PL CBCL CBCL VINELAND scale VINELAND scale discussion with the parents regarding the elaborated assessment discussion with the parents regarding the elaborated assessment Child DEL22q11.2 4 -18

9. Sample Population 16 cases (3y7m – 14y10m) 16 cases (3y7m – 14y10m) 62% (10) males 62% (10) males 38% (6) females 38% (6) females Average age : 8y 5m Average age : 8y 5m

10. LOCATION TOSCANAEMILIA ROMAGNALOMBARDIALIGURIAPUGLIA 94111

11. Cognitive profile

12. CBCL results Internalizing problems31.25% Internalizing problems31.25% Externalizing problems 43.75% Externalizing problems 43.75% Total problems56.25% Total problems56.25%

13. Withdrawn Somatics complaints Anxious/ depressed Social problems Thought problems Attentionproblems Delinquent behavior Aggressive behavior 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16

14. Internalizing problems Externalizing problems Total problemsIQ 1 M 3Y 7m 116 2 F 4Y 6m 94 3 M 4y 6m82 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

15. TOTAL PROBLEMS Our study 56,25% Jansen, Netherlands 2007 53,6% General population 18% Jansen, Olanda 2007 NO RELATIONSHIP BETWEEN IQ AND TOTPROBLEMS NO RELATIONSHIP BETWEEN IQ AND TOT PROBLEMS Tot Probl No Tot probl m IQ82,680,2 P > 0,3 NO SIGNIFICANT DIFFERENCE

16. P 10y vs pz<10y

17. Vineland results Patients in clinical range

18. 31.25% NORMAL 31.25% NORMAL 68.75% ADAPTIVE BEHAVIORS IMPAIREMENT 68.75% ADAPTIVE BEHAVIORS IMPAIREMENT 50% Daily living skills 50% Daily living skills 25% Communication 25% Communication 56.25% Socializzation 56.25% Socializzation 50% Motor skills 50% Motor skills STRENGHT POINTS 25% COMMUNICATION 18.75% SOCIALIZATION STRENGHT POINTS 25% COMMUNICATION 18.75% SOCIALIZATION

19. ClinicalStrong points DAILY LIVING SKILLS COMMUNICATION SOCIALIZATION MOTOR SKILLS IQ 1M3y 7m << media 116 2F4y 6m 94 3M4y 6m 82 4F 4y 10m 107 5M 5y < media 81 6M 6y 9m 74 7M 6y 11m < media 66 8M 6y 11m < media 87 9F 8y 3m 87 10M 9y 6m < media 87 11F 9y 8m85 12F 10y 6m < media 74 13F 11y 11m < media << media< media 76 14M 12y 11m 68 15M 14y 10m 58 16M 14y 10m < media 64

20. Vineland results Daily living skills>10y 10y <10y Communication >10y 10y <10y Socialization >10y = 10y = <10y Motor skills>10y = 10y = <10y significant differences

21. K-SADS results PSYCHIATRIC DIAGNOSIS (DSMIV) NO DIAGNOSISADHDODDMOOD DIS.PANIC DISORDERSP.PHOBIASOCIAL PHOBIA 43,75%31,25%25%12,50%6,25%

22. DEPRESSIVE DISORDER BIPOLAR DISORDER SOCIAL PHOBIA SPEC. PHOBIA PANIC DISORDER ADHDODD PSYCHOTIC 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 XX 87 9 F 10 M X 87 11 F 85 12 F 74 13 F X X 76 14 M XX68 15 M XX 58 16 M X X 64 DiagnosisSymptoms

23. Symptoms ATTENTION PROBLEMS 93.75% ATTENTION PROBLEMS 93.75% ANXIETY AND OBSESSIVE SYMPTOMS 50% ANXIETY AND OBSESSIVE SYMPTOMS 50% EMOTIONAL LABILITY50% EMOTIONAL LABILITY50% SOCIALIZATION PROBLEMS 43.75% SOCIALIZATION PROBLEMS 43.75% DEPENDENCE ON THE ADULT 43.75% DEPENDENCE ON THE ADULT 43.75% SELECTIVE INTERESTS AND REPETITIVE BEHAVIORS31.25% SELECTIVE INTERESTS AND REPETITIVE BEHAVIORS31.25% FRUSTRATION INTOLLERANCE 28.75% FRUSTRATION INTOLLERANCE 28.75% SOMATIC COMPLAINTS 6.25% SOMATIC COMPLAINTS 6.25%

24. Symptoms Pz >10 years: IRRITABILITY IRRITABILITY PSYCHOMOTOR AGITATION PSYCHOMOTOR AGITATION IMPULSIVITY IMPULSIVITY SELF-MUTILATING BEHAVIOR SELF-MUTILATING BEHAVIOR DIFFICULTY CONTROLLING ANGER DIFFICULTY CONTROLLING ANGER EPISODIC DYSCONTROL AND IMPULSIVE AGGRESSION EPISODIC DYSCONTROL AND IMPULSIVE AGGRESSION COPROLALIA COPROLALIA PSYCHOTIC SYMPTOMS PSYCHOTIC SYMPTOMS

25. The pt > 10 y.o. seem to have in our statistical analysis a higher prevalence of: Mood disorder Mood disorder Anxiety symptoms Anxiety symptoms Psychotic symptoms Psychotic symptoms Irritability and impulsivity Irritability and impulsivity Psychomotor agitation Psychomotor agitation Episodic dyscontrol and impulsive auto- and etero-aggressions Episodic dyscontrol and impulsive auto- and etero-aggressions Emotional lability Emotional lability

26. Discussion exiguity of our sample exiguity of our sample larger susceptibility -compared to the general population- to develop psychopathologic problems with age larger susceptibility -compared to the general population- to develop psychopathologic problems with age relevance of early diagnosis and early follw-up relevance of early diagnosis and early follw-up more appropriate therapeutic-rehabilitative strategies for every single case more appropriate therapeutic-rehabilitative strategies for every single case strength points and quality of life importance strength points and quality of life importance

27. GRAZIE…