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

Catalina García-Nonell, Eugenia Rigau Ratera, Susan Harris, David R Hessl, Michele Y. Ono, Nicole Tartaglia, Emily Marvin, Flora Tassone, Randi J Hagerman

Research output: Contribution to journalArticle

59 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1911-1916
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number15
StatePublished - Aug 1 2008


  • Autism
  • Autism spectrum disorder
  • Fragile X syndrome
  • Prader-Willi like phenotype
  • Seizures

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)

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