Diagnosing Alzheimer Dementia in People with Down Syndrome in Accordance with ICD, DSM V and A/T/N System

Due to a triplication of the amyloid precursor protein (APP) gene on chromosome 21, most people with Down's Syndrome (DS) are at high risk of developing an Alzheimer type of dementia associated with Down's Syndrome (DS-AD). The diagnostic process of DS-AD is challenging due to the high variability of symptoms ranging from memory deficits to social withdrawal or aggression, as well as a broad spectrum of differential diagnoses. Currently, ICD-10, DSM-V and the novel A(amyloid)/T(tau)/N (neurodegeneration) system are available for classifying dementia, although DS-AD is not represented as a specific entity in any of these systems. Here, we discuss challenges in arriving at a diagnosis of Alzheimer dementia in people with DS in accordance with these diagnostic systems.