Down syndrome: Cognitive phenotype

Wayne Silverman

Research output: Contribution to journalReview articlepeer-review


Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies focusing on the cognitive characteristics of Down syndrome were reviewed, and while performance in most areas could be predicted based upon overall intellectual disability, relative weaknesses were consistently found to be associated with expressive language, syntactic/morphosyntactic processing, and verbal working memory. This profile of uneven deficits could result from a failure to develop typically automatic processing for speech perception and production, and this possibility is discussed along with its implications for intervention.

Original languageEnglish (US)
Pages (from-to)228-236
Number of pages9
JournalMental Retardation and Developmental Disabilities Research Reviews
Issue number3
StatePublished - 2007
Externally publishedYes


  • Cognition
  • Cognitive phenotype
  • Down syndrome
  • Language
  • Working memory

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuropsychology and Physiological Psychology
  • Genetics(clinical)


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