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Am J Med Genet A ; 146A(15): 1911-6, 2008 Aug 01.
Article in English | MEDLINE | ID: mdl-18627038

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.


Subject(s)
Autistic Disorder/complications , Child Development Disorders, Pervasive/complications , Fragile X Syndrome/complications , Adolescent , Adult , Child , Child Development Disorders, Pervasive/diagnosis , Child, Preschool , Chromosome Aberrations , Fragile X Syndrome/genetics , Humans , Male , Mosaicism , Retrospective Studies , Seizures/complications , Seizures/diagnosis , Trinucleotide Repeats
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