The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism. Issue 1 (20th November 2012)

• Record Type: Journal Article
• Authors: Peters, Sarika U.; Hundley, Rachel J.; Wilson, Amy K.; Warren, Zachary; Vehorn, Alison; Carvalho, Claudia M.B.; Lupski, James R.; Ramocki, Melissa B.
• Is Part Of: Autism research. Volume 6:Issue 1(2013:Feb.)
• Page Start: 42
• Page End: 50
• Publication Date: 2012-11-20
• Subjects: Autism -- Periodicals; Autism -- Research -- Periodicals; 616.85882005
• DOI: 10.1002/aur.1262
• Languages: English
• ISSNs: 1939-3792

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Alterations in the X‐linked gene <italic>MECP2</italic> encoding the methyl‐CpG‐binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of <italic>MECP2</italic> may be related to ASD. To better characterize the relevance of <italic>MECP2</italic> overexpression to ASD‐related behaviors, we compared the core symptoms of ASD in <italic>MECP2</italic> duplication syndrome to nonverbal mental age‐matched boys with idiopathic ASD. Within the <italic>MECP2</italic> duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with <italic>MECP2</italic> duplication syndrome (ages 3–10) with a chronological and mental age‐matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with <italic>MECP2</italic> duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with <italic>MECP2</italic> duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the <italic>MECP2</italic> duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of <italic>MECP2</italic> duplication syndrome. Our results illustrate that overexpression/increased dosage of <italic>MECP2</italic> is related to core features of ASD. <italic><bold>Autism Res</bold> 2012, ●●: ●●–●●.</italic> © 2012 International Society for Autism Research, Wiley Periodicals, Inc.</p> </abstract>