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Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
Author(s) -
Garcíall Catalina,
Ratera Eugenia Rigau,
Harris Susan,
Hessl David,
Ono Michele Y.,
Tartaglia Nicole,
Marvin Emily,
Tassone Flora,
Hagerman Randi J.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32290
Subject(s) - fragile x syndrome , autism spectrum disorder , medical diagnosis , autism , medicine , fragile x , psychiatry , affect (linguistics) , incidence (geometry) , pediatrics , clinical psychology , psychology , pathology , physics , gene , biochemistry , chemistry , communication , optics
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. © 2008 Wiley‐Liss, Inc.

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