Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? / Caroline DEMILY in Journal of Autism and Developmental Disorders, 48-8 (August 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-8 (August 2018) . - p.2886-2889 Titre : Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? Type de document : Texte imprimé et/ou numérique Auteurs : Caroline DEMILY, Auteur ; G. LESCA, Auteur ; A. POISSON, Auteur ; M. TILL, Auteur ; Giulia BARCIA, Auteur ; N. CHATRON, Auteur ; Damien SANLAVILLE, Auteur ; A. MUNNICH, Auteur Article en page(s) : p.2886-2889 Langues : Anglais (eng) Mots-clés : 22q11.2 duplication  Autism spectrum disorders  Epilepsy  Genetic counseling  Incomplete penetrance  Next generation sequencing Index. décimale : PER Périodiques Résumé : The 22q11.2 duplication is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic HUWE1 and KIF1A mutations in two severely affected ASD/ID participants carrying a 22q11.2 duplication. Based on previous studies, this CNV was originally considered as disease-causing. Yet, owing to their clinical severity, the participants were further investigated by next generation sequencing and eventually found to carry pathogenic mutations in HUWE1 and KIF1A respectively. We suggest giving consideration to additive effect of 22q11.2 duplication and pathogenic mutations when clinical presentation is either unusually severe or associated with atypical features. Caution should be exercised when delivering genetic counseling for variably penetrant CNVs, as uncertain penetrance of this CNV may lead to ignore additive pathogenic mutations. Systematic panel or exome sequencing of known ASD genes should be recommended when counseling families of patients carrying variably penetrant CNV. En ligne : http://dx.doi.org/10.1007/s10803-018-3552-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? [Texte imprimé et/ou numérique] / Caroline DEMILY, Auteur ; G. LESCA, Auteur ; A. POISSON, Auteur ; M. TILL, Auteur ; Giulia BARCIA, Auteur ; N. CHATRON, Auteur ; Damien SANLAVILLE, Auteur ; A. MUNNICH, Auteur . - p.2886-2889. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-8 (August 2018) . - p.2886-2889 Mots-clés : 22q11.2 duplication  Autism spectrum disorders  Epilepsy  Genetic counseling  Incomplete penetrance  Next generation sequencing Index. décimale : PER Périodiques Résumé : The 22q11.2 duplication is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic HUWE1 and KIF1A mutations in two severely affected ASD/ID participants carrying a 22q11.2 duplication. Based on previous studies, this CNV was originally considered as disease-causing. Yet, owing to their clinical severity, the participants were further investigated by next generation sequencing and eventually found to carry pathogenic mutations in HUWE1 and KIF1A respectively. We suggest giving consideration to additive effect of 22q11.2 duplication and pathogenic mutations when clinical presentation is either unusually severe or associated with atypical features. Caution should be exercised when delivering genetic counseling for variably penetrant CNVs, as uncertain penetrance of this CNV may lead to ignore additive pathogenic mutations. Systematic panel or exome sequencing of known ASD genes should be recommended when counseling families of patients carrying variably penetrant CNV. En ligne : http://dx.doi.org/10.1007/s10803-018-3552-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

Cognitus & Moi: prise en charge des troubles attentionnels et visuo-spatiaux chez l'enfant / Marie-Noëlle BABINET

Public ISBD in Traité de réhabilitation psychosociale / Nicolas FRANCK Titre : Cognitus & Moi: prise en charge des troubles attentionnels et visuo-spatiaux chez l'enfant Type de document : Texte imprimé et/ou numérique Auteurs : Marie-Noëlle BABINET, Auteur ; Émilie FAVRE, Auteur ; Elodie PEYROUX, Auteur ; Caroline DEMILY, Auteur Année de publication : 2018 Importance : p.575-588 Langues : Français (fre) Index. décimale : APP-F APP-F - Thérapies Comportementales et Cognitives Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=390 in Traité de réhabilitation psychosociale / Nicolas FRANCK Cognitus & Moi: prise en charge des troubles attentionnels et visuo-spatiaux chez l'enfant [Texte imprimé et/ou numérique] / Marie-Noëlle BABINET, Auteur ; Émilie FAVRE, Auteur ; Elodie PEYROUX, Auteur ; Caroline DEMILY, Auteur . - 2018 . - p.575-588. Langues : Français (fre) Index. décimale : APP-F APP-F - Thérapies Comportementales et Cognitives Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=390

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Génétique de la schizophrénie / Caroline DEMILY

Public ISBD in Manuel de psychiatrie / Julien-Daniel GUELFI Titre : Génétique de la schizophrénie Type de document : Texte imprimé et/ou numérique Auteurs : Caroline DEMILY, Auteur Année de publication : 2021 Importance : p.285-292 Index. décimale : SCI-E SCI-E - Psychiatrie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=497 in Manuel de psychiatrie / Julien-Daniel GUELFI Génétique de la schizophrénie [Texte imprimé et/ou numérique] / Caroline DEMILY, Auteur . - 2021 . - p.285-292. Index. décimale : SCI-E SCI-E - Psychiatrie Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=497

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Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder / A. MUNNICH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 33 p. Titre : Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. MUNNICH, Auteur ; Caroline DEMILY, Auteur ; L. FRUGERE, Auteur ; C. DUWIME, Auteur ; V. MALAN, Auteur ; Giulia BARCIA, Auteur ; C. VIDAL, Auteur ; E. THROO, Auteur ; C. BESMOND, Auteur ; L. HUBERT, Auteur ; G. ROLAND-MANUEL, Auteur ; J. P. MALEN, Auteur ; M. FERRERI, Auteur ; S. HANEIN, Auteur ; J. C. THALABARD, Auteur ; Nathalie BODDAERT, Auteur ; Moïse ASSOULINE, Auteur Article en page(s) : 33 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Copy number variant  Fragile X syndrome  Gene panel  Genetic counseling  Genetic diagnosis  Microarray  Next-generation sequencing  Sequence variant Index. décimale : PER Périodiques Résumé : Background: Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods: To improve access to services, an ambulatory team has been established since 1998, delivering on-site clinical genetics consultations and gradually upgrading services to 502 children and young adults with ASD in their standard environment across 26 day-care hospitals and specialized institutions within the Greater Paris region. The evaluation included a clinical genetics consultation, screening for fragile X syndrome, metabolic workup, chromosomal microarray analysis, and, in a proportion of patients, next-generation sequencing of genes reported in ASD and other neurodevelopmental disorders. Results: Fragile X syndrome and pathogenic copy number variants (CNVs) accounted for the disease in 10% of cases, including 4/312 (1.3%) with fragile X syndrome and 34/388 (8.8%) with pathogenic CNVs (19 de novo and 4 inherited). Importantly, adding high-throughput resequencing of reported intellectual disability/ASD genes to the screening procedure had a major impact on diagnostic yield in the 141 patients examined most recently. Pathogenic or likely pathogenic sequence variants in 27 disease genes were identified in 33/141 patients (23.4%; 23 were de novo and 10 inherited, including five X-linked and five recessive compound heterozygous variants). Diagnosed cases presented atypical and/or syndromic ASD with moderate to severe intellectual disability. The diagnostic yield of fragile X syndrome and array CGH testing combined with next-generation sequencing was significantly higher than fragile X syndrome and array CGH alone (p value 0.009). No inborn errors of metabolism were detected with the metabolic screening. Conclusion: Based on the diagnostic rate observed in this cohort, we suggest that a stepwise procedure be considered, first screening pathogenic CNVs and a limited number of disease genes in a much larger number of patients, especially those with syndromic ASD and intellectual disability. En ligne : https://dx.doi.org/10.1186/s13229-019-0284-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder [Texte imprimé et/ou numérique] / A. MUNNICH, Auteur ; Caroline DEMILY, Auteur ; L. FRUGERE, Auteur ; C. DUWIME, Auteur ; V. MALAN, Auteur ; Giulia BARCIA, Auteur ; C. VIDAL, Auteur ; E. THROO, Auteur ; C. BESMOND, Auteur ; L. HUBERT, Auteur ; G. ROLAND-MANUEL, Auteur ; J. P. MALEN, Auteur ; M. FERRERI, Auteur ; S. HANEIN, Auteur ; J. C. THALABARD, Auteur ; Nathalie BODDAERT, Auteur ; Moïse ASSOULINE, Auteur . - 33 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 33 p. Mots-clés : Autism spectrum disorder  Copy number variant  Fragile X syndrome  Gene panel  Genetic counseling  Genetic diagnosis  Microarray  Next-generation sequencing  Sequence variant Index. décimale : PER Périodiques Résumé : Background: Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods: To improve access to services, an ambulatory team has been established since 1998, delivering on-site clinical genetics consultations and gradually upgrading services to 502 children and young adults with ASD in their standard environment across 26 day-care hospitals and specialized institutions within the Greater Paris region. The evaluation included a clinical genetics consultation, screening for fragile X syndrome, metabolic workup, chromosomal microarray analysis, and, in a proportion of patients, next-generation sequencing of genes reported in ASD and other neurodevelopmental disorders. Results: Fragile X syndrome and pathogenic copy number variants (CNVs) accounted for the disease in 10% of cases, including 4/312 (1.3%) with fragile X syndrome and 34/388 (8.8%) with pathogenic CNVs (19 de novo and 4 inherited). Importantly, adding high-throughput resequencing of reported intellectual disability/ASD genes to the screening procedure had a major impact on diagnostic yield in the 141 patients examined most recently. Pathogenic or likely pathogenic sequence variants in 27 disease genes were identified in 33/141 patients (23.4%; 23 were de novo and 10 inherited, including five X-linked and five recessive compound heterozygous variants). Diagnosed cases presented atypical and/or syndromic ASD with moderate to severe intellectual disability. The diagnostic yield of fragile X syndrome and array CGH testing combined with next-generation sequencing was significantly higher than fragile X syndrome and array CGH alone (p value 0.009). No inborn errors of metabolism were detected with the metabolic screening. Conclusion: Based on the diagnostic rate observed in this cohort, we suggest that a stepwise procedure be considered, first screening pathogenic CNVs and a limited number of disease genes in a much larger number of patients, especially those with syndromic ASD and intellectual disability. En ligne : https://dx.doi.org/10.1186/s13229-019-0284-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Remédiation cognitive chez les adultes ayant une déficience intellectuelle / Caroline RIGARD

Public ISBD in Outils de la réhabilitation psychosociale / Nicolas FRANCK Titre : Remédiation cognitive chez les adultes ayant une déficience intellectuelle Type de document : Texte imprimé et/ou numérique Auteurs : Caroline RIGARD, Auteur ; Caroline DEMILY, Auteur Année de publication : 2016 Importance : p.253-274 Langues : Français (fre) Index. décimale : APP-F APP-F - Thérapies Comportementales et Cognitives Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=390 in Outils de la réhabilitation psychosociale / Nicolas FRANCK Remédiation cognitive chez les adultes ayant une déficience intellectuelle [Texte imprimé et/ou numérique] / Caroline RIGARD, Auteur ; Caroline DEMILY, Auteur . - 2016 . - p.253-274. Langues : Français (fre) Index. décimale : APP-F APP-F - Thérapies Comportementales et Cognitives Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=390

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Remédiation cognitive et microdélétion 22q11 / Caroline DEMILY

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Remédiation cognitive en psychiatrie de l’enfant / Caroline RIGARD in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 141 (Mai 2016)

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