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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : Molecular autism

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Molecular autism - 27 Jun 2012

Chaste P, Betancur C, Gérard-Blanluet M, Bargiacchi A, Kuzbari S, Drunat S, Leboyer M, Bourgeron T, Delorme R

Link to Pubmed [PMID] – 22738402

Mol Autism 2012;3(1):5

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a normal or borderline intelligence quotient (IQ). Previous findings have shown a strong association between ID and ASD in both men and women with FXS. We describe here the case of two sisters with ASD and FXS but without ID. One of the sisters presented with high-functioning autism, the other one with pervasive developmental disorder not otherwise specified and low normal IQ.

http://www.ncbi.nlm.nih.gov/pubmed/22738402