title: Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.
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.
authors.affiliation: PSYNCRON, Barcelona, Spain.
authors.forename: Catalina
authors.initials: C
authors.lastname: García-Nonell
authors.forename: Eugenia Rigau
authors.initials: ER
authors.lastname: Ratera
authors.forename: Susan
authors.initials: S
authors.lastname: Harris
authors.forename: David
authors.initials: D
authors.lastname: Hessl
authors.forename: Michele Y
authors.initials: MY
authors.lastname: Ono
authors.forename: Nicole
authors.initials: N
authors.lastname: Tartaglia
authors.forename: Emily
authors.initials: E
authors.lastname: Marvin
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.forename: Randi J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: 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