Down syndrome: Cognitive phenotype
Abstract
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. © 2007 Wiley‐Liss, Inc. MRDD Research Reviews 2007;13:228–236.
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These structural differences correlate with functional deficits in expressive language and working memory regulated by these regions.
“These structural differences correlate with functional deficits in expressive language and working memory regulated by these regions36,37.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [37]
The early developmental onset of network-level disruptions in DS coincides with the emergence of intellectual disability.
“The early developmental onset of these network-level disruptions — which are probably the product of altered synapse formation and function — coincides with the emergence of intellectual disability, suggesting that the cognitive deficits may be the product of impaired network-level function37,140–142.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [37]
Cognitive deficits in DS may be the product of impaired network-level function.
“The early developmental onset of these network-level disruptions — which are probably the product of altered synapse formation and function — coincides with the emergence of intellectual disability, suggesting that the cognitive deficits may be the product of impaired network-level function37,140–142.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [37]
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References 91 · Cited by 324
- Authors
- Silverman, W.
- Affiliations
- Kennedy Krieger Institute (US)
- Corresponding author
- Silverman, Wayne
- ORCID
- Silverman, Wayne
- Venue
- Mental Retardation and Developmental Disabilities Research Reviews
- Publisher
- Wiley
- Published
- 2007-01
- Volume
- 13
- Issue
- 3
- Pages
- 228-236
- ISSN
- 1080-4013 (ISSN-L)
- 1098-2779
- OpenAlex
- W2060264026
- Cited by
- 324
- References
- 91
- Citations by year
- 2026: 8 · 2025: 15 · 2024: 15 · 2023: 13 · 2022: 17 · 2021: 25 · 2020: 20 · 2019: 29 · 2018: 21 · 2017: 23 · 2016: 13 · 2015: 20 · 2014: 23 · 2013: 18 · 2012: 14
- FWCI
- 1.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Mental Retardation and Developmental Disabilities Research Reviews (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD024061)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Social Sciences › Psychology › Developmental and Educational Psychology › Language Development and Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Down syndrome, intellectual disability, cognitive profile, expressive language, syntactic processing, morphosyntactic processing, verbal working memory, speech perception, speech production, automatic processing, intervention
- MeSH terms
- Chromosomes, Human, Pair 21, Cognition, Down Syndrome, Humans, Language, Memory, Phenotype, Verbal Learning
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