Autistic Spectrum Disorder and the fragile X premutation

Beth L. Goodlin-Jones, Flora Tassone, Louise W. Gane, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

110 Scopus citations


Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.

Original languageEnglish (US)
Pages (from-to)392-398
Number of pages7
JournalJournal of Developmental and Behavioral Pediatrics
Issue number6
StatePublished - Dec 2004


  • Autism
  • Fragile X syndrome
  • Premutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Behavioral Neuroscience
  • Psychology(all)
  • Developmental and Educational Psychology


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