Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D.; S. Lebon; Q. Chen; S. Martin-Brevet; L.G. Snyder; L. Hippolyte; E. Hanson; A.M. Maillard; W.A. Faucett; A. Macé; A. Pain; R. Bernier; S.J. Chawner; A. David; J. Andrieux; E. Aylward; G. Baujat; I. Caldeira; P. Conus; C. Ferrari; F. Forzano; M. Gérard; R.P. Goin-Kochel; E. Grant; J.V. Hunter; B. Isidor; A. Jacquette; A.E. Jønch; B. Keren; D. Lacombe; C. Le Caignec; C.L. Martin; K. Männik; A. Metspalu; C. Mignot; P. Mukherjee; M.J. Owen; M. Passeggeri; C. Rooryck-Thambo; J.A. Rosenfeld; S.J. Spence; K.J. Steinman; J. Tjernagel; M. Van Haelst; Y. Shen; B. Draganski; E.H. Sherr; D.H. Ledbetter; M.B. van den Bree; J.S. Beckmann; J.E. Spiro; A. Reymond; S. Jacquemont; W.K. Chung

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

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2016

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Anglais

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doi: 10.1001/jamapsychiatry.2015.2123
issn: 2168-622X

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Serveur académique Lausannois

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info:eu-repo/semantics/altIdentifier/doi/10.1001/jamapsychiatry.2015.2123

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info:eu-repo/semantics/altIdentifier/pmid/26629640

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info:eu-repo/semantics/altIdentifier/eissn/2168-6238

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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FA7E8A43283E4

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Serveur Académique Lausannois

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Université de Lausanne et CHUV

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info:eu-repo/semantics/openAccess , Copying allowed only for non-profit organizations , https://serval.unil.ch/disclaimer

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Adolescent; Adult; Autism Spectrum Disorder/epidemiology; Autism Spectrum Disorder/genetics; Autistic Disorder/epidemiology; Autistic Disorder/genetics; Case-Control Studies; Cerebellum/abnormalities; Child; Child, Preschool; Chromosome Deletion; Chromosome Disorders/epidemiology; Chromosome Disorders/genetics; Chromosome Duplication; Chromosomes, Human, Pair 16/genetics; Cognition; Cohort Studies; Comorbidity; DNA Copy Number Variations; Developmental Disabilities/epidemiology; Developmental Disabilities/genetics; Epilepsy/epidemiology; Epilepsy/genetics; Female; Humans; Intellectual Disability/epidemiology; Intellectual Disability/genetics; Male; Microcephaly/epidemiology; Microcephaly/genetics; Middle Aged; Nervous System Malformations/epidemiology; Nervous System Malformations/genetics; Schizophrenia/epidemiology; Schizophrenia/genetics; Schizophrenic Psychology; Young Adult

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D'Angelo D. et al., « Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. », Serveur académique Lausannois, ID : 10.1001/jamapsychiatry.2015.2123

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IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P 100) compared with the deletion group (P

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

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