Down syndrome

Topic: Risk, prevention and care in population studies

Down syndrome remains one of the most common causes of mental retardation. Although knowledge of pathogenesis remains incomplete, recent molecular biologic techniques have identified regions of the 21st chromosome critical for expression of the Down syndrome phenotype, and animal models have helped elucidate the origins of the neurochemical and neuropathologic abnormalities. There also has been an improved understanding of the spectrum of medical complications of this disorder and the need for anticipatory management, including the search for atlantoaxial subluxation and hypothyroidism. With its increased risk of Alzheimer disease, Down syndrome is proving to be a useful model for studying aging. Accompanying greater knowledge has been improved functional outcome. Better medical care has made individuals with Down syndrome healthier; remaining at home through childhood has increased their cognitive function; and availability of increased numbers of group homes and supported employment opportunities has permitted the young adult with Down syndrome to live a more independent and full life. In this climate, the role of the pediatrician in early intervention and anticipatory guidance cannot be overemphasized.

Key findings

• With its increased risk of Alzheimer disease, Down syndrome is proving to be a useful model for studying aging.

Why it matters

This review notes that Down syndrome carries an increased risk of Alzheimer's disease and is a useful model for studying aging. It describes improved medical care and functional outcomes for people with Down syndrome but reports no treatment, cure, or prevention for Alzheimer's disease.

Study details

• Evidence strengthLow

Read the original

• DOI: 10.1016/s0031-3955(16)38548-0
• PubMed: 8493063
• Original source →

May need a subscription OpenAlex found no free copy of the full text (checked 6 Feb 1020), so the publisher may charge for it. The PubMed abstract is free.

@article{hayes1993-8493063,
  author  = {Hayes, A. and Batshaw, M. L.},
  title   = {{Down syndrome}},
  journal = {Pediatric clinics of North America},
  year    = {1993},
  doi     = {10.1016/s0031-3955(16)38548-0},
  pmid    = {8493063},
  url     = {https://doi.org/10.1016/s0031-3955(16)38548-0}
}

Later studies that cite this one

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

• Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome Proceedings of the National Academy of Sciences of the United States of America · 1996-11-01 · usefulness score 49/100 · Down syndrome and Alzheimer's
• Oxidative stress and mitochondrial dysfunction in Down syndrome Advances in experimental medicine and biology · 2012-01-01 · usefulness score 41/100 · Down syndrome and Alzheimer's
• Cerebral cortical astroglia from the trisomy 16 mouse, a model for down syndrome, produce neuronal cholinergic deficits in cell culture Proceedings of the National Academy of Sciences of the United States of America · 1997-11-01 · usefulness score 38/100 · Down syndrome and Alzheimer's
• Gonadal function in young women with Down syndrome International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 1999-10-01 · usefulness score 30/100 · Down syndrome and Alzheimer's
• Increased levels of tau-like protein in patients with Down syndrome Neuroscience letters · 1999-11-01 · usefulness score 29/100 · Down syndrome and Alzheimer's
• 99mTc-HMPAO brain perfusion single-photon emission computed tomography in children with Down syndrome: relationship to epilepsy, thyroid functions, and congenital heart disease Journal of child neurology · 2006-07-01 · usefulness score 26/100 · Down syndrome and Alzheimer's

Related studies in Down syndrome and Alzheimer's

• The Alzheimer's Biomarker Consortium-Down Syndrome: Rationale and methodology Alzheimer's & dementia (Amsterdam, Netherlands) · 2020-08-03 · usefulness score 69/100
• The Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) and its contributions to understanding Alzheimer's disease in Down syndrome: A decade of discovery Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025-06-01 · usefulness score 67/100
• Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome JAMA network open · 2022-08-01 · usefulness score 66/100
• Alzheimer Dementia Among Individuals With Down Syndrome JAMA network open · 2024-09-03 · usefulness score 66/100
• The striatum is an early, accurate indicator of amyloid burden using [11C]PiB in Down syndrome: comparison of two radiotracers Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024-12-06 · usefulness score 63/100
• Prevalence of Aging, Dementia, and Multimorbidity in Older Adults With Down Syndrome JAMA neurology · 2018-11-01 · usefulness score 61/100

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More on Down syndrome and Alzheimer's

• A review that covers this ground Dementia in Down syndrome: unique insights for Alzheimer disease research Nature reviews. Neurology · 2019-03-01 · usefulness score 60/100
• Newest in this subject Differential endothelial cell remodeling in Down syndrome and APP duplication drives distinct blood brain barrier dysfunction bioRxiv · 2026-10-30 · Preprint — not yet peer-reviewed · usefulness score 16/100
• Newest in this subject Memory and Plasma pTau217 Refine Prognosis in Down Syndrome Annals of neurology · 2026-10-02 · Peer-reviewed · usefulness score 47/100

See all studies in Down syndrome and Alzheimer's →