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

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XVI CONGRESSO SCIENTIFICO INTERNAZIONALE Velo-Cardio-Facial Syndrome Educational Foundation ROMA 3-5 LUGLIO 2009 AIdel22 Associazione Italiana Delezione Cromosoma 22 Slide 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 Slide 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 Slide 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Aspect and Features CHILDHOOD ATTENTION PROBLEMS ATTENTION PROBLEMS ADHD ADHD ODD ODD SOCIAL PROBLEMS AND WITHDRAWN SOCIAL PROBLEMS AND WITHDRAWN AUTISM SPECTRUM DISORDER AUTISM SPECTRUM DISORDER ANXIETY DISORDER ANXIETY DISORDER MOOD DISORDER MOOD DISORDER OCD OCD Baker et al. 2005; Gothelf et al. 2004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 Slide 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LABILITY ATTENTION PROBLEMS ATTENTION PROBLEMS PSYCHOTIC-LIKE SYMPTOMS PSYCHOTIC-LIKE SYMPTOMS SOCIAL PROBLEMS AND WITHDRAWN SOCIAL PROBLEMS AND WITHDRAWN Psychopathologic Aspect and Features Gothelf et al. 2007 Debban et al. 2006; Baker et al. 2005 Slide 6 Social Functioning Dependence on adults Dependence on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 Slide 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 Slide 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 Slide 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 Slide 10 LOCATION TOSCANAEMILIA ROMAGNALOMBARDIALIGURIAPUGLIA 94111 Slide 11 Cognitive profile Slide 12 CBCL results Internalizing problems31.25% Internalizing problems31.25% Externalizing problems 43.75% Externalizing problems 43.75% Total problems56.25% Total problems56.25% Slide 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 Slide 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 Slide 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 Slide 16 P 10y vs pz Vineland results Daily living skills>10y 10y 10y 10y 10y = 10y = 10y = 10y = 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 Slide 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 Slide 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 Slide 27 GRAZIE