1 recherche sur le mot-clé 'FMR2'

Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology / F. CORREIA in Journal of Autism and Developmental Disorders, 45-3 (March 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-3 (March 2015) . - p.888-892 Titre : Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology Type de document : Texte imprimé et/ou numérique Auteurs : F. CORREIA, Auteur ; C. CAFE, Auteur ; J. ALMEIDA, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur Article en page(s) : p.888-892 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fragile X syndrome  FRAXE  FMR2  Intellectual disability  Compulsive behavior problems Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level. En ligne : http://dx.doi.org/10.1007/s10803-014-2185-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 [article] Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology [Texte imprimé et/ou numérique] / F. CORREIA, Auteur ; C. CAFE, Auteur ; J. ALMEIDA, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur . - p.888-892. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-3 (March 2015) . - p.888-892 Mots-clés : Autism spectrum disorder  Fragile X syndrome  FRAXE  FMR2  Intellectual disability  Compulsive behavior problems Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level. En ligne : http://dx.doi.org/10.1007/s10803-014-2185-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258