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Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome

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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.

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Authors and Affiliations

  1. Division of Child Neurology and Psychiatry, Department of Pediatrics, University of Catania, Via S. Sofia, 78, 95123, Catania, Italy

    Luigi Mazzone, Liliana Ruta & Diego Mugno

  2. Department of Neuroscience, Child Neuropsychiatry Unit, IRCCS Children’s Hospital Bambino Gesù, Rome, Italy

    Luigi Mazzone

  3. Department of Biological and Technological Research (DIBIT), San Raffaele Scientific Institute, Milan, Italy

    Lia Vassena

  4. Laboratory of Genetics Diagnosis, IRCCS Oasi SS Maria, Troina, Italy

    Ornella Galesi & Marco Fichera

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  1. Luigi Mazzone
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  2. Lia Vassena
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  3. Liliana Ruta
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  4. Diego Mugno
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  5. Ornella Galesi
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  6. Marco Fichera
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Correspondence to Luigi Mazzone.

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Mazzone, L., Vassena, L., Ruta, L. et al. Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome. J Autism Dev Disord 42, 2202–2207 (2012). https://doi.org/10.1007/s10803-011-1432-5

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  • DOI: https://doi.org/10.1007/s10803-011-1432-5

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