Opportunities, barriers, and recommendations in Down syndrome research

Abstract

BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.

Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome

“… 78 Further studies should assess the impact of other medical conditions associated with Down syndrome (eg, hypothyroidism, autoimmune disorders, periodontal disease, sleep apnea, epilepsy, vision and hearing problems) as well as the contribution of sociodemographic factors, such as residential status (living with family vs institutionalization), intellectual disability, and economic status of the caregivers. 68 , 79 …”

Sleep Disorders in Adults with Down Syndrome

“…Besides cognitive and vascular consequences, other health problems are associated with OSA but have not yet been investigated in the DS population [ 83 ]. There is a relationship between sleep disorders and mood problems in adults with DS that can manifest as new onset mood disorders or declining adaptive skills, increasing the frequency of OSA diagnosis [ 9 ].…”

“…There are several important clinical and research gaps in knowledge of sleep disorders in adults with DS [ 83 ]. ( Table 2 and Table 3 ).…”

Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer’s Disease

“…Ethic challenges and concerns about the feasibility of completing all assessments compared with those done in the general population are the main reasons. Luckily, the exponential increasing research in AD in the DS population is rapidly reversing this scenario ( Hendrix et al, 2020 ; Fortea et al, 2021 ). Briefly, the Down syndrome population has (1) an ultra-high risk for developing symptomatic Alzheimer’s disease with a long preclinical phase in which biomarkers follow a predictable order of changes over more than 2 decades, (2) a high OSA prevalence, (3) a higher prevalence than autosomal dominant Alzheimer’s disease, and (4) a more homogeneous pathophysiology than those with sporadic AD.…”