Brief report: Peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome

Luigi Mazzone, Lia Vassena, Liliana Ruta, Diego Mugno, Ornella Galesi, Marco Fichera

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)2202-2207
Number of pages6
JournalJournal of Autism and Developmental Disorders
Volume42
Issue number10
DOIs
Publication statusPublished - Oct 2012

Keywords

  • 2q37 region
  • Autism
  • BDMR
  • Evolutionary course

ASJC Scopus subject areas

  • Developmental and Educational Psychology

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