Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.
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.
García-Nonell
Catalina
C
PSYNCRON, Barcelona, Spain.
Ratera
Eugenia Rigau
ER
Harris
Susan
S
Hessl
David
D
Ono
Michele Y
MY
Tartaglia
Nicole
N
Marvin
Emily
E
Tassone
Flora
F
Hagerman
Randi J
RJ
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000150:complications*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000175:diagnosis; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D009030:Mosaicism; D012189:Retrospective Studies; D012640:Seizures / Q000150:complications / Q000175:diagnosis; D018911:Trinucleotide Repeats