Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions

Meredith M. Renda, Robert G. Voigt, Dusica Babovic-Vuksanovic, W. Edward Highsmith, Sherry S. Vinson, Christine M. Sadowski, Randi J Hagerman

Research output: Contribution to journalArticle

12 Scopus citations


To determine the range of neurodevelopmental diagnoses associated with intermediate (45-54 repeats) and premutation (55-200 repeats) range cytosine-guanine-guanine fragile X expansions, the medical records of children with intermediate or premutation range expansions were retrospectively reviewed, and all neurodevelopmental diagnoses were abstracted. Twenty-nine children (9 female, 20 male; age, 13 months to 17 years) with intermediate (n = 25) or premutation (n = 4) range expansions were identified with neurodevelopmental diagnoses, including global developmental delay/intellectual disability (n = 15), language and learning disorders (n = 9), attention-deficit hyperactivity disorder (n = 5), epilepsy (n = 5), and motor disorders (n = 12), including 2 boys younger than 4 years of age with tremor and ataxia. Thus, children with intermediate or premutation range fragile X cytosine-guanine-guanine expansions may be more susceptible than children without such expansions to other processes, both genetic and environmental, that contribute to neurodevelopmental disability.

Original languageEnglish (US)
Pages (from-to)326-330
Number of pages5
JournalJournal of Child Neurology
Issue number3
StatePublished - Mar 2014



  • developmental disability
  • fragile X syndrome
  • premutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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