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Early developmental concerns in 22q11.2 deletion and duplication carriers / Eve S. KORTANEK in Research in Autism Spectrum Disorders, 97 (September 2022)
[article]
Titre : Early developmental concerns in 22q11.2 deletion and duplication carriers Type de document : Texte imprimé et/ou numérique Auteurs : Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur Article en page(s) : 102026 Langues : Anglais (eng) Mots-clés : Copy number variants 22q11.2 Early development Developmental concerns Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486
in Research in Autism Spectrum Disorders > 97 (September 2022) . - 102026[article] Early developmental concerns in 22q11.2 deletion and duplication carriers [Texte imprimé et/ou numérique] / Eve S. KORTANEK, Auteur ; Nicole M. MCDONALD, Auteur ; Erin E. NOSCO, Auteur ; Gabrielle A. MACNAUGHTON, Auteur ; Amy LIN, Auteur ; Shafali S. JESTE, Auteur ; Carrie E. BEARDEN, Auteur . - 102026.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 97 (September 2022) . - 102026
Mots-clés : Copy number variants 22q11.2 Early development Developmental concerns Social communication Index. décimale : PER Périodiques Résumé : Background 22q11.2 deletions (22qDEL) and duplications (22qDUP) are among the most common copy number variants (CNVs) associated with neurodevelopmental disorders (NDDs). Little is known about the earliest developmental features of 22q11.2 CNVs and whether developmental delays are detected in early childhood. This study primarily aimed to assess general development and social communication in 22q11.2 CNV carriers age 5 and under. Method Participants included parents of children age 5 and under with a reported genetic diagnosis of 22qDEL (N = 63) or 22qDUP (N = 30). In addition to questions addressing clinical and intervention information, two standardized parent questionnaires ”the Ages & Stages Questionnaires, Third Edition (ASQ-3) and the Communication and Symbolic Behavior Scales Developmental Profile Infant/Toddler Checklist (ITC) ”screened for developmental and social communication delays, respectively. Results Developmental delay and speech and/or language delay were the most commonly reported NDD diagnoses among young 22q11.2 CNV carriers, with prevalences at 19% and 17%, respectively. In the vast majority (91%) of 22q11.2 CNV carriers, parents reported concerns in at least one developmental domain, with 71% reporting global developmental concerns. 70% of parents of 22q11.2 CNV carriers age 2 and under also reported social communication concerns. Conclusions The high prevalence of reported developmental concerns in both CNV groups reinforces the need for close monitoring of early neurodevelopment in 22q11.2 CNV carriers with regard to both developmental delays and autism risk. En ligne : https://doi.org/10.1016/j.rasd.2022.102026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 Mouse Models of 22q11.2-Associated Autism Spectrum Disorder / Noboru HIROI in Autism - Open Access, 2-S ([01/12/2012])
[article]
Titre : Mouse Models of 22q11.2-Associated Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Noboru HIROI, Auteur ; Takeshi HIRAMOTO, Auteur ; Kathryn M. HARPER, Auteur ; Go SUZUKI, Auteur ; Shuken BOKU, Auteur Article en page(s) : 9 p. Langues : Anglais (eng) Mots-clés : Tbx1 Sept5 22q11.2 Syndromic ASD Copy number variation Index. décimale : PER Périodiques Résumé : Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genes Tbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Autism - Open Access > 2-S [01/12/2012] . - 9 p.[article] Mouse Models of 22q11.2-Associated Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Noboru HIROI, Auteur ; Takeshi HIRAMOTO, Auteur ; Kathryn M. HARPER, Auteur ; Go SUZUKI, Auteur ; Shuken BOKU, Auteur . - 9 p.
Langues : Anglais (eng)
in Autism - Open Access > 2-S [01/12/2012] . - 9 p.
Mots-clés : Tbx1 Sept5 22q11.2 Syndromic ASD Copy number variation Index. décimale : PER Périodiques Résumé : Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genes Tbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 Autism and Other Neurodevelopmental Disorders / Robin L. HANSEN
Titre : Autism and Other Neurodevelopmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Robin L. HANSEN, Directeur de publication ; Sally J ROGERS, Directeur de publication Editeur : Arlington - VA [Etats-Unis] : American Psychiatric Publishing Année de publication : 2013 Importance : 306 p. Présentation : ill. Format : 15,3cm x 23cm x 2cm ISBN/ISSN/EAN : 978-1-58562-425-6 Note générale : Bibliogr., Index Langues : Anglais (eng) Mots-clés : 22q11.2 Index. décimale : TRO-F TRO-F - Autres Troubles Résumé : The accelerating advancement in research in neurodevelopmental disorders—including autism spectrum disorders, attention-deficit/hyperactivity disorder, learning disorders, and more—has enormous implications for clinical practice. Autism and Other Neurodevelopmental Disorders provides clinicians with up-to-date information on the impact these advances have on the standard of care in the range of disorders commonly encountered by both primary and subspecialist physicians. The authors, affiliated with the UC-Davis MIND Institute, explain the latest findings from the biological, behavioral, and clinical sciences in ways that are accessible to clinicians and helpful to patients and their families.
Specific features include:
•A uniform chapter structure that makes it easy for the reader to locate material and make comparisons between and among disorders. Each chapter addresses signs and symptoms (including onset and developmental course); epidemiology and etiology (including known genetic and environmental contributors, biological mechanisms and relevant animal models); diagnostic criteria; differential diagnosis and comorbidities; and evidence-based interventions.
•The inclusion, where possible, of current draft DSM-5 diagnoses, as well as DSM-IV.
•Practical focus on psychological/behavioral and medical issues, as well as other supports and resources for patients, their families, and the community.
•Emphasis on current, ongoing research that holds promise for future clinical care.
•Identification of new research directions and needs.
•A comprehensive chapter devoted to the effects each of the neurodevelopmental disorders has on language and social communication.
Replete with tables, illustrative figures, key points, and suggestions for further reading, Autism and Other Neurodevelopmental Disorders helps clinicians meet the challenge of providing the most up-to-date and effective care for their patients. [Résumé d'Auteur/Editeur]Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=190 Autism and Other Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / Robin L. HANSEN, Directeur de publication ; Sally J ROGERS, Directeur de publication . - Arlington - VA [Etats-Unis] : American Psychiatric Publishing, 2013 . - 306 p. : ill. ; 15,3cm x 23cm x 2cm.
ISBN : 978-1-58562-425-6
Bibliogr., Index
Langues : Anglais (eng)
Mots-clés : 22q11.2 Index. décimale : TRO-F TRO-F - Autres Troubles Résumé : The accelerating advancement in research in neurodevelopmental disorders—including autism spectrum disorders, attention-deficit/hyperactivity disorder, learning disorders, and more—has enormous implications for clinical practice. Autism and Other Neurodevelopmental Disorders provides clinicians with up-to-date information on the impact these advances have on the standard of care in the range of disorders commonly encountered by both primary and subspecialist physicians. The authors, affiliated with the UC-Davis MIND Institute, explain the latest findings from the biological, behavioral, and clinical sciences in ways that are accessible to clinicians and helpful to patients and their families.
Specific features include:
•A uniform chapter structure that makes it easy for the reader to locate material and make comparisons between and among disorders. Each chapter addresses signs and symptoms (including onset and developmental course); epidemiology and etiology (including known genetic and environmental contributors, biological mechanisms and relevant animal models); diagnostic criteria; differential diagnosis and comorbidities; and evidence-based interventions.
•The inclusion, where possible, of current draft DSM-5 diagnoses, as well as DSM-IV.
•Practical focus on psychological/behavioral and medical issues, as well as other supports and resources for patients, their families, and the community.
•Emphasis on current, ongoing research that holds promise for future clinical care.
•Identification of new research directions and needs.
•A comprehensive chapter devoted to the effects each of the neurodevelopmental disorders has on language and social communication.
Replete with tables, illustrative figures, key points, and suggestions for further reading, Autism and Other Neurodevelopmental Disorders helps clinicians meet the challenge of providing the most up-to-date and effective care for their patients. [Résumé d'Auteur/Editeur]Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=190 Contenu
- Autism spectrum disorders / Sally J ROGERS
- Attention-deficit/hyperactivity disorder / Julie B. SCHWEITZER
- Fragile X syndrome / Mary Jacena S. LEIGH
- Chromosome 22q11.2 deletion syndrome / Kathleen ANGKUSTSIRI
- Tourette syndrome, tic disorders, and comorbidities / Joan R. GUNTHER
- Down syndrome / Liga BIVINA
- Angelman and Prader-Willi syndromes / Molly MCGINNISS
- Williams syndrome / Mary Beth STEINFELD
- Sex chromosome aneuploidy / Jeannie VISOOTSAK
- Disorders of learning, dyslexia, dysgraphia, dyscalculia, and other symbolic dysfunctions / Ingrid N. LECKLITER
- Speech and language disorders in childhood a neurodevelopmental perspective / Ann M. MASTERGEORGE
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Code-barres Cote Support Localisation Section Disponibilité DOC0002342 TRO-F HAN Livre Centre d'Information et de Documentation du CRA Rhône-Alpes TRO - Autres Troubles Disponible Les abonnés qui ont emprunté ce document ont également emprunté :
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