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Alzheimer disease, dementia, Down syndrome, trisomy 21



  1. Kozma, Chahira MD


Down syndrome (DS) is one of the most common genetic conditions with an estimated incidence of 1 in 750 in the general population. It results from an extra chromosome 21 with the total chromosome count being 47 instead of the normal 46. The classic features of DS include hypotonia, atypical facial characteristics, an increased incidence of major and minor anomalies, vision and hearing deficits, other health problems, and intellectual disabilities. People with DS are living longer and experiencing premature aging, specifically Alzheimer disease (AD). The incidence of AD among adults with DS varies significantly according to studies averaging between 11% to 22% for people aged 40 to 49 years, 24.9% for people aged 50 to 59 years, and 25.6% to 77% for people older than 60 years. All studies indicate an early onset of AD as well as an exponential increase in prevalence with age. Furthermore, senile plaques and neurofibrillary tangles, the neuropathological characteristics of AD, are seen in the brain of all people with DS. Annual screening for AD should become part of routine medical practice of older adults with DS, because an early diagnosis is important for comprehensive care.