Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network / Deborah A. BILDER in Journal of Autism and Developmental Disorders, 46-10 (October 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-10 (October 2016) . - p.3369-3376 Titre : Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network Type de document : Texte imprimé et/ou numérique Auteurs : Deborah A. BILDER, Auteur ; Amanda V. BAKIAN, Auteur ; David A. STEVENSON, Auteur ; Paul S. CARBONE, Auteur ; Christopher CUNNIFF, Auteur ; Alyson B. GOODMAN, Auteur ; William M. MCMAHON, Auteur ; Nicole P. FISHER, Auteur ; David VISKOCHIL, Auteur Article en page(s) : p.3369-3376 Langues : Anglais (eng) Mots-clés : Autism  Neurofibromatosis  Developmental disabilities  Children  Non-verbal communications Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD). The frequency of ASD/NF1 co-occurrence has been subject to debate since the 1980s. This relationship was investigated in a large population-based sample of 8-year-old children identified with ASD (N = 12,271) by the Centers for Disease Control and Prevention’s Autism and Developmental Disabilities Monitoring (ADDM) Network. Twenty-two (1-in-558) children with ASD had diagnosed NF1, exceeding NF1 general population estimates by four to five fold. Children with ASD/NF1 versus ASD without NF1 were significantly less likely to receive a community-based ASD diagnosis (p = 0.04) and understand non-verbal communication (p = 0.001). These findings underscore the importance of including social-communication ability among relevant developmental concerns in children with NF1. En ligne : http://dx.doi.org/10.1007/s10803-016-2877-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293 [article] Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network [Texte imprimé et/ou numérique] / Deborah A. BILDER, Auteur ; Amanda V. BAKIAN, Auteur ; David A. STEVENSON, Auteur ; Paul S. CARBONE, Auteur ; Christopher CUNNIFF, Auteur ; Alyson B. GOODMAN, Auteur ; William M. MCMAHON, Auteur ; Nicole P. FISHER, Auteur ; David VISKOCHIL, Auteur . - p.3369-3376. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-10 (October 2016) . - p.3369-3376 Mots-clés : Autism  Neurofibromatosis  Developmental disabilities  Children  Non-verbal communications Index. décimale : PER Périodiques Résumé : Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD). The frequency of ASD/NF1 co-occurrence has been subject to debate since the 1980s. This relationship was investigated in a large population-based sample of 8-year-old children identified with ASD (N = 12,271) by the Centers for Disease Control and Prevention’s Autism and Developmental Disabilities Monitoring (ADDM) Network. Twenty-two (1-in-558) children with ASD had diagnosed NF1, exceeding NF1 general population estimates by four to five fold. Children with ASD/NF1 versus ASD without NF1 were significantly less likely to receive a community-based ASD diagnosis (p = 0.04) and understand non-verbal communication (p = 0.001). These findings underscore the importance of including social-communication ability among relevant developmental concerns in children with NF1. En ligne : http://dx.doi.org/10.1007/s10803-016-2877-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293

The Neurofibromatosis Type 1 Gene / David VISKOCHIL in Annual Review of Neuroscience, 16 (1993)

Public ISBD [article]  inAnnual Review of Neuroscience > 16 (1993) . - p.183-205 Titre : The Neurofibromatosis Type 1 Gene Type de document : Texte imprimé et/ou numérique Auteurs : David VISKOCHIL, Auteur ; Ray WHITE, Auteur ; Richard CAWTHON, Auteur Année de publication : 1993 Article en page(s) : p.183-205 Langues : Anglais (eng) Mots-clés : Neurofibromin - Mutations in NF1 - Alternative splice - Gene mapping - ras-mediated differentiation Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=372 [article] The Neurofibromatosis Type 1 Gene [Texte imprimé et/ou numérique] / David VISKOCHIL, Auteur ; Ray WHITE, Auteur ; Richard CAWTHON, Auteur . - 1993 . - p.183-205. Langues : Anglais (eng) in Annual Review of Neuroscience > 16 (1993) . - p.183-205 Mots-clés : Neurofibromin - Mutations in NF1 - Alternative splice - Gene mapping - ras-mediated differentiation Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=372

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