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Am J Med Genet A. 2008 Aug 1;146A(15):1911-6. doi: 10.1002/ajmg.a.32290.

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.

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1
PSYNCRON, Barcelona, Spain.

Abstract

This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. Ninety males (3-25 years) with FXS or FXS + ASD were evaluated for secondary medical diagnoses by medical history and examination. A significant difference in the incidence of medical problems was found between patients with FXS + ASD (38.6%) and FXS alone (18.2%, P < 0.05). Medical problems that affect the CNS are more likely to occur in those with FXS + ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS.

PMID:
18627038
PMCID:
PMC4097171
DOI:
10.1002/ajmg.a.32290
[Indexed for MEDLINE]
Free PMC Article
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