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 journalArticlepeer-review

60 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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