For this journal club, we discussed ethical challenges in neuropsychological testing and care for patients with Down syndrome, nearly 100 percent of whom develop Alzheimer’s disease neuropathological findings by adulthood. Melanie Stephens, a neuropsychologist, directed a conversation informed by two articles: “Association of dementia with mortality among adults with Down Syndrome older than 35 years” by Rosalyn Hithersay et al. (JAMA Neurology, 2019) and “Enduring and emerging challenges of informed consent” by Christine Grady (New England Journal of Medicine, 2015).
Alzheimer’s disease is pervasive among Down syndrome patients, likely due to triplication of the amyloid precursor protein (APP) gene on chromosome 21 in the setting of increasing life expectancy. As individuals with DS live longer, they transition from pediatrics to primary care, where physicians are unfamiliar with managing adults with Down syndrome. Cognitive evaluation resources for older patients at risk of developing Alzheimer’s disease are limited in availability and fraught with practical and ethical concerns. We considered the feasibility of adjusting a traditionally 6-8 hour, single-day neuropsychological exam to accommodate patients with developmental disabilities and heightened distractibility. Would exam modifications intended to encourage patient cooperation, such as introducing snack breaks or playing a patient’s favorite music, objectionably influence patients’ decision-making or promote justice by protecting patients’ right to an evaluation? We compared such approaches to public health efforts to design environments that nudge people toward making healthy choices, like taking the stairs over the elevator. In light of the lack of testing norms for Alzheimer’s disease specifically in patients with Down syndrome, we also considered whether such an exam and existing metrics can produce meaningful data on patients’ cognitive abilities.
We responded to anecdotes shared by Melanie and others about conflicting wishes of patients and caregivers regarding neuropsychological examination and research participation. Concerning patients’ capacity to consent, we supported respecting the decisions of those who currently have capacity, promoting the values of those who previously had capacity, and acting in the best interests of those who never had capacity. It is unrealistic, however, for a neuropsychologist to thoroughly understand a patient’s unique values given the limited access to medical history and the brevity of the pre-evaluation interview. Despite the difficulties of the evaluation process, we acknowledged the importance of disclosing signs of cognitive decline to patients to inform advance care planning. In recognition of stigma against individuals with Down syndrome (e.g., denial of dental care or medication on the basis of their presumed inability to manage bills and prescriptions), we stressed the urgent need for Alzheimer’s disease research in Down syndrome populations.