Updated in 7/16/2009 1:53:38 AM      Viewed: 89 times      (Journal Article)
American journal of medical genetics. Part A 146A (15): 1911-6 (2008)

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

Catalina García-Nonell , Eugenia Rigau Ratera , Susan Harris , David Hessl , Michele Y Ono , Nicole Tartaglia , Emily Marvin , Flora Tassone , Randi J Hagerman
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.
DOI: 10.1002/ajmg.a.32290      ISSN: 1552-4825