Behavioral phenotype of individuals with Down syndrome

Topic: Risk, prevention and care in population studies

Evidence is reviewed for a developmentally-emerging behavioral phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language production, and auditory short-term memory in infancy and childhood, but fewer adaptive behavior problems than individuals with other cognitive disabilities. Evidence of dementia emerges for up to half the individuals studied after age 50. Research issues affecting control group selection in establishing phenotypic characteristics are discussed, as well as the possible genetic mechanisms underlying variation in general cognitive delay, specific language impairment, and adult dementia. MRDD Research Reviews 2000;6:84-95. Wiley-Liss, Inc.

@article{chapman2000-10899801,
  author  = {Chapman, R. S. and Hesketh, L. J.},
  title   = {{Behavioral phenotype of individuals with Down syndrome}},
  journal = {Mental retardation and developmental disabilities research reviews},
  year    = {2000},
  doi     = {10.1002/1098-2779(2000)6:2<84::aid-mrdd2>3.0.co;2-p},
  pmid    = {10899801},
  url     = {https://doi.org/10.1002/1098-2779(2000)6:2<84::aid-mrdd2>3.0.co;2-p}
}

Key findings

• Evidence is reviewed for a developmentally-emerging behavioral phenotype in individuals with Down syndrome that includes significant delay in nonverbal cognitive development accompanied by additional, specific deficits in speech, language production, and auditory short-term memory in infancy and childhood, but fewer adaptive behavior problems than individuals with other cognitive disabilities.

Why it matters

This 2000 review describes a developmental profile seen in Down syndrome: significant delay in nonverbal thinking skills, plus specific weaknesses in speech, language production and auditory short-term memory in childhood, though with fewer everyday adaptive-behaviour problems than in other cognitive disabilities. It reports that evidence of dementia appears in up to half of the individuals studied after age 50, which is why this group matters to Alzheimer's research. It discusses possible genetic explanations and the difficulty of choosing comparison groups, but it reports no new trial and tests no treatment or prevention.

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Study details

• Evidence strengthLow

Read the original

• DOI: 10.1002/1098-2779(2000)6:2<84::aid-mrdd2>3.0.co;2-p
• PubMed: 10899801
• Original source →

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Studies this one cites

Referenced by this study and also in the alzhub library, so you can read them here.

• APOE genotype and gender effects on Alzheimer disease in 100 adults with Down syndrome Neurology · 1999-07-01 · usefulness score 55/100 · Genetics
• Molecular mapping of Alzheimer-type dementia in Down's syndrome Annals of neurology · 1998-03-01 · usefulness score 54/100 · Risk genes beyond APOE
• Down syndrome phenotypes: the consequences of chromosomal imbalance Proceedings of the National Academy of Sciences of the United States of America · 1994-05-01 · usefulness score 52/100 · Down syndrome and Alzheimer's
• A prospective study of Alzheimer disease in Down syndrome Archives of neurology · 1989-08-01 · usefulness score 49/100 · How common it is
• The value of the Rivermead Behavioural Memory Test (Children's Version) in an epidemiological study of older adults with Down syndrome The British journal of clinical psychology · 1998-02-01 · usefulness score 46/100 · Down syndrome and Alzheimer's
• Allelic variability in D21S11, but not in APP or APOE, is associated with cognitive decline in Down syndrome Neuroreport · 1997-05-01 · usefulness score 45/100 · Down syndrome and Alzheimer's
• Intracellular APP processing and A beta production in Alzheimer disease Journal of neuropathology and experimental neurology · 1999-08-01 · usefulness score 43/100 · Risk genes beyond APOE
• Brain cognition and metabolism in Down syndrome adults in association with development of dementia Neuroreport · 1996-11-01 · usefulness score 40/100 · Down syndrome and Alzheimer's

Later studies that cite this one

6 studies in the alzhub library list this one in their references.

• New approaches to studying early brain development in Down syndrome Developmental medicine and child neurology · 2019-05-17 · usefulness score 46/100 · Digital health tools
• Discoveries in Down syndrome: moving basic science to clinical care Progress in brain research · 2012-01-01 · usefulness score 40/100 · Down syndrome and Alzheimer's
• The physiological phosphorylation of tau is critically changed in fetal brains of individuals with Down syndrome Neuropathology and applied neurobiology · 2017-05-25 · usefulness score 38/100 · Down syndrome and Alzheimer's
• A stereological study of the mediodorsal thalamic nucleus in Down syndrome Neuroscience · 2014-09-08 · usefulness score 35/100 · Down syndrome and Alzheimer's
• Down syndrome: A curative prospect? AIMS neuroscience · 2020-06-22 · usefulness score 33/100 · Down syndrome and Alzheimer's
• Understanding perspectives and research trends in Down syndrome neuropathogenesis: A bibliometric analysis Journal of intellectual disabilities : JOID · 2024-11-13 · usefulness score 30/100 · Down syndrome and Alzheimer's

Related studies in Digital health tools

• Motor speech signature of behavioral variant frontotemporal dementia: Refining the phenotype Neurology · 2017-07-21 · usefulness score 43/100
• The natural history of dementia in Down's syndrome Archives of neurology · 1990-03-01 · usefulness score 57/100
• Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records The Lancet. Public health · 2023-04-26 · usefulness score 55/100
• Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline Neurobiology of aging · 2017-04-18 · usefulness score 48/100
• Dissociation of Down syndrome and Alzheimer's disease effects with imaging Alzheimer's & dementia (New York, N. Y.) · 2016-06-01 · usefulness score 45/100
• Symptoms of dementia among adults with Down's syndrome: a qualitative study Journal of intellectual disability research : JIDR · 2007-09-01 · usefulness score 44/100

Also tagged “down”

527 studies in the library carry the topic tag “down”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 527 tagged studies.

• Influence of the amyloid precursor protein locus on dementia in Down syndrome Neurology · 2004-06-01 · usefulness score 43/100 · Down syndrome and Alzheimer's
• Morphological and biochemical assessment of DNA damage and apoptosis in Down syndrome and Alzheimer disease, and effect of postmortem tissue archival on TUNEL Neurobiology of aging · 2000-07-01 · usefulness score 44/100 · Down syndrome and Alzheimer's
• Common pathogenic mechanisms in the hippocampus across neurodegenerative dementias: Alzheimer’s disease, Down syndrome, and Parkinson’s disease npj Dementia · 2026-04-29 · usefulness score 32/100 · Down syndrome and Alzheimer's

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More on Digital health tools

• A review that covers this ground Neurological phenotypes for Down syndrome across the life span Progress in brain research · 2012-01-01 · usefulness score 36/100
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