National Intellectual Disability Memory Service, Institute of Memory and Cognition, Tallaght University Hospital, Dublin, Ireland; Department of Medical Gerontology, School of Medicine, Trinity College Dublin, Dublin, Ireland.
National Intellectual Disability Memory Service, Institute of Memory and Cognition, Tallaght University Hospital, Dublin, Ireland; Department of Neurology, Tallaght University Hospital, Dublin, Ireland; Department of Medical Gerontology, School of Medicine, Trinity College Dublin, Dublin, Ireland.
Lancet Healthy Longev. 2024 Oct;5(10):100639. doi: 10.1016/j.lanhl.2024.100639. Epub 2024 Oct 3.
People with intellectual disability are a vulnerable cohort who face challenges accessing health care. Compared with the general population, people with intellectual disability have an elevated risk of developing dementia, which often presents at a younger age and with atypical symptoms. The lifelong cognitive and functional difficulties faced by people with intellectual disability further complicate the diagnostic process. Specialised intellectual disability memory services and evaluation using reliable biomarkers of neurodegeneration are needed to improve diagnostic and prognostic certainty in this group. Inadequate specialist services and paucity of research on biomarkers in this population hinders progress and impedes the delivery of adequate health care. Although cerebrospinal fluid-based biomarkers and radiological biomarkers are used routinely in the evaluation of Alzheimer's disease in the general population, biological variation within the clinically heterogenous group of people with intellectual disability could affect the clinical utility of existing biomarkers. As disease-modifying therapies become available for the treatment of early Alzheimer's disease, and hopefully other neurodegenerative conditions in the future, biomarkers will serve as gatekeepers to establish the eligibility for such therapies. Inadequate representation of adults with intellectual disability in biomarker research will result in their exclusion from treatment with disease-modifying therapies, thus perpetuating the inequity in health care that is already faced by this group. The aim of this Series paper is to summarise current evidence on the application of biomarkers for Alzheimer's disease in a population with intellectual disability (that is not attributable to Down syndrome) and suspected cognitive decline.
智障人士是一个弱势群体，他们在获得医疗保健方面面临挑战。与一般人群相比，智障人士患痴呆症的风险更高，而且往往发病年龄更小，症状也不典型。智障人士面临的终身认知和功能障碍进一步使诊断过程复杂化。需要专门的智障记忆服务和使用可靠的神经退行性变生物标志物进行评估，以提高该人群的诊断和预后确定性。由于该人群的专科服务不足且缺乏生物标志物研究，因此阻碍了进展并妨碍了提供足够的医疗保健。虽然脑脊液生物标志物和放射学生物标志物在一般人群中常用于评估阿尔茨海默病，但智障人士这一临床异质性群体中的生物学变异可能会影响现有生物标志物的临床实用性。随着针对早期阿尔茨海默病治疗的疾病修饰疗法的出现，以及未来有望治疗其他神经退行性疾病，生物标志物将作为准入标准，以确定此类疗法的适用性。智障人士在生物标志物研究中的代表性不足，将导致他们无法接受疾病修饰疗法的治疗，从而使该群体已经面临的医疗保健不平等问题永久化。本综述的目的是总结目前关于在智障（非唐氏综合征）人群中应用生物标志物诊断阿尔茨海默病和疑似认知能力下降的证据。
