Down syndrome and mental health

Meet the patient

A 48-year-old woman with Down syndrome is brought by her supported-living carer. Over three months she has stopped joining the group for meals, speaks less, has lost weight, and sits alone in her room for hours. Her mother died eight months ago. The carer's first sentence is: "I think it's the Alzheimer's."[3][8]

Two questions dominate the viva: is this depression or dementia — and what reversible causes have you excluded today? The temptation to leap straight to "Alzheimer's" is exactly the trap this topic exists to dismantle.[2][3][8]

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1. [1]Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome Nat Rev Dis Primers, 2020.PMID 32029743
2. [2]Zigman WB, Lott IT Alzheimer's disease in Down syndrome: neurobiology and risk Ment Retard Dev Disabil Res Rev, 2007.PMID 17910085
3. [3]Holland AJ, Hon J, Huppert FA, Stevens F, Watson P Population-based study of the prevalence and presentation of dementia in adults with Down's syndrome Br J Psychiatry, 1998.PMID 9828989
4. [4]Fortea J, Vilaplana E, Carmona-Iragui M, et al. Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study Lancet, 2020.PMID 32593336
5. [5]Ball SL, Holland AJ, Huppert FA, Treppner P, Watson P, Hon J The modified CAMDEX informant interview is a valid and reliable tool for use in the diagnosis of dementia in adults with Down's syndrome J Intellect Disabil Res, 2004.PMID 15312062
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9. [9]Myers BA, Pueschel SM Psychiatric disorders in persons with Down syndrome J Nerv Ment Dis, 1991.PMID 1833506
10. [10]Krinsky-McHale SJ, Zigman WB, Lee JH, et al. Promising outcome measures of early Alzheimer's dementia in adults with Down syndrome Alzheimers Dement (Amst), 2020.PMID 32647741
11. [11]Dykens EM Measuring behavioral phenotypes: provocations from the "new genetics" Am J Ment Retard, 1995.PMID 7779347
12. [12]Bayen E, Possin KL, Chen Y, Cleret de Langavant L, Yaffe K Prevalence of Aging, Dementia, and Multimorbidity in Older Adults With Down Syndrome JAMA Neurol, 2018.PMID 30032260