Aging in fragile X syndrome

Agustini Utari, Evan Adams, Elizabeth Berry-Kravis, Alyssa Chavez, Felicia Scaggs, Lily Ngotran, Antoniya Boyd, David R Hessl, Louise W. Gane, Flora Tassone, Nicole Tartaglia, Maureen A. Leehey, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs. 10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations.

Original languageEnglish (US)
Pages (from-to)70-76
Number of pages7
JournalJournal of Neurodevelopmental Disorders
Issue number2
StatePublished - Jun 2010


  • Aging
  • Fragile X syndrome
  • Medical problems
  • Movement disorder

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Cognitive Neuroscience
  • Pediatrics, Perinatology, and Child Health


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