New Study on Autism and MECP2 Duplication

Sarika U. Peters, Rachel J. Hundley, Amy K. Wilson, Zachary Warren, Alison Vehorn, Claudia M. B. Carvalho, James R. Lupski, Melissa B. Ramocki. (2012). The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism, Autism Research, published 20 Nov 2012

A new article published in Autism Research compares the behavioral characteristics of boys with MECP2 Duplication Syndrome to the behavioral characteristics of boys with idiopathic autism (i.e., autism that is not known to be secondary to some other condition). The study looks looks at irritability, lethargy, social behavior, and restricted, repetitive behaviors. Four of ten boys diagnosed with MECP2 duplications had previously been diagnosed as falling within the broad class of Autism Spectrum Disorders. Overall, boys with MECP2 Duplications were a little more social and exhibited less irritability, but were very similar to the idiopathic autism group.

I don’t think the results of this study will come as a surprise to families, who have often comment that they can see some autistic traits in their MECP2 Duplication Syndrome kids, but feel like they are more social than they would expect from in an autistic child

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One response to “New Study on Autism and MECP2 Duplication

  1. The above report is well received. Our son has all the traits of Autism and even though our son has partial duplication caused by MECP2 we are finding it very difficult to make our education authority make formal diagnosis of Autism so he can get the help he so needs as he is still on the 2nd percentile at age 11

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