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Semin Neurol 2014; 34(03): 258-265
DOI: 10.1055/s-0034-1386764
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Autism and Fragile X Syndrome

Timothy W. Yu
1   Division of Genetics and Genomics, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts
,
Elizabeth Berry-Kravis
2   Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois
› Author Affiliations
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Publication History

Publication Date:
05 September 2014 (online)

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Abstract

Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions. These glimpses on one hand reinforce the idea that synapse development and plasticity are one of the major pathways disrupted in autism, but beyond that are providing fresh molecular support to the idea of mechanistic parallels between idiopathic ASD and specific syndromic neurodevelopmental disorders like fragile X syndrome (FXS). Fragile X syndrome is already recognized as the most common identifiable genetic cause of intellectual disability and ASDs, with many overlapping phenotypic features. Fragile X syndrome is associated with a variety of cognitive, behavioral, physical, and medical problems, which are managed through supportive treatment. Recent major advances in the understanding of the underlying neurobiology in FXS have led to the discovery of agents that rescue phenotypes in the FXS mouse model, and early clinical trials of targeted treatments in humans with FXS. Thus translational strategies in FXS may be poised to serve as models for ASD and other cognitive disorders.

Keywords

fragile X syndrome - autism spectrum disorder - fragile X mental retardation protein - fragile X mental retardation 1 geneintellectual disability
 

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