Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome / Luigi MAZZONE in Journal of Autism and Developmental Disorders, 42-10 (October 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-10 (October 2012) . - p.2202-2207 Titre : Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Luigi MAZZONE, Auteur ; Lia VASSENA, Auteur ; Liliana RUTA, Auteur ; Diego MUGNO, Auteur ; Ornella GALESI, Auteur ; Marco FICHERA, Auteur Année de publication : 2012 Article en page(s) : p.2202-2207 Langues : Anglais (eng) Mots-clés : Autism  2q37 region  BDMR  Evolutionary course Index. décimale : PER Périodiques Résumé : Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 → qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability. This report supports the hypothesis that genes in the 2q37 region may contribute to the etiology of autism, leading, however, to a peculiar evolution of the disease, with symptoms severity decreasing over time. En ligne : http://dx.doi.org/10.1007/s10803-011-1432-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180 [article] Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome [Texte imprimé et/ou numérique] / Luigi MAZZONE, Auteur ; Lia VASSENA, Auteur ; Liliana RUTA, Auteur ; Diego MUGNO, Auteur ; Ornella GALESI, Auteur ; Marco FICHERA, Auteur . - 2012 . - p.2202-2207. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-10 (October 2012) . - p.2202-2207 Mots-clés : Autism  2q37 region  BDMR  Evolutionary course Index. décimale : PER Périodiques Résumé : Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 → qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability. This report supports the hypothesis that genes in the 2q37 region may contribute to the etiology of autism, leading, however, to a peculiar evolution of the disease, with symptoms severity decreasing over time. En ligne : http://dx.doi.org/10.1007/s10803-011-1432-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=180

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