Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 15, Pages 1911-1916Publisher
WILEY
DOI: 10.1002/ajmg.a.32290
Keywords
fragile X syndrome; autism; PDDNOS; autism spectrum disorder; seizures; Prader-Willi like phenotype
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Funding
- NICHD [HD36071, HD02274]
- NIH Pediatric Research LRP
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This study examine whether secondary medical diagnoses that affects 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. (c) 2008 Wiley-Liss, Inc.
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