Spotlight on Down Syndrome and Alzheimer's Disease: Addressing Inequities in Care and Research

August 28, 2024

Atlantic Fellows Eimear McGlinchey and Lucía Pertierra highlight recent initiatives to raise global awareness and address inequities related to Down syndrome and Alzheimer’s disease.

Despite significant increases in life expectancy for people with Down syndrome (DS) in recent decades, it is still over 20 years lower than the general population due to the impact of Alzheimer’s disease (AD), known as DS-related AD (DSAD). Without access to disease-modifying treatments for DSAD, further improvements in life expectancy are unlikely.

Down syndrome, which is caused by an extra copy of chromosome 21, occurs in approximately 1 in every 779 live births. People with DS are genetically predisposed to Alzheimer's disease with their lifetime risk of developing dementia exceeding 95% and an average age of diagnosis of just over 53 years. According to the 2024 NIA-AA revised criteria for diagnosis and staging of Alzheimer's disease, everyone with DS is classified as Stage 0, meaning they have the disease from birth, even prior to onset of brain pathologic changes or clinical symptoms.

Research Opportunities and Inequities

Down syndrome offers a unique opportunity to study Alzheimer's disease due to the predictable sequence of biomarker and clinical changes that lead to dementia. DSAD is one of the best models for studying AD pathology and conducting prevention studies, along with the less prevalent autosomal-dominant Alzheimer’s disease (ADAD). Recent large-scale studies have shown that the challenges of including people with Down syndrome in AD biomarker research due to intellectual disability can be overcome.

Despite the emergence of disease-modifying treatments for AD, significant inequities persist in access to assessment, diagnosis, and research opportunities for people with Down syndrome compared to the general population or those with ADAD. These disparities are further exacerbated by racial inequalities, particularly in life expectancy among people with DS in the United States. Furthermore, most research has focused on the US and Europe, highlighting the urgent need for increased awareness, advocacy, and research in the Global South.

^{Participants at the Imbizo gathering in South Africa.}

Down Syndrome in South Africa

In 2023, during Creative Brain Week, a discussion between Atlantic Fellows from the Health Equity and Equity in Brain Health programs, along with regional mentors, led to a proposal for an IDEATE grant from the Atlantic Institute to raise awareness of Down syndrome in South Africa. This initiative culminated in an Imbizo on November 22, 2023, aimed at addressing the inequities faced by individuals with DS. The Imbizo, a traditional South African gathering, fostered open dialogue on key community issues. Organized by GBHI community members, including regional mentor Juan Fortea, and Atlantic Fellows for Health Equity (Atholl Kleinhans, Bulela Vava, Yvette Andrews), it brought together healthcare professionals, educators, advocacy groups, parents, and individuals with Down syndrome.

Discussions focused on timely diagnosis, education, support services, and employment opportunities, with an emphasis on inclusivity and involving individuals with DS in decision-making. Participants committed to ongoing advocacy, data collection for policy changes, and improving government coordination to enhance the quality of life for those with DS in South Africa.

Down Syndrome Special Interest Group at GBHI

A Down Syndrome Special Interest Group was recently established within the GBHI community, which we lead. This group includes members from diverse regions—ranging from Europe to Latin America and Africa—and backgrounds, from arts to clinical neurology and public health. The group aims to raise global awareness about Down syndrome and DS-AD, with a focus on ethnic and cultural diversity across populations. It also serves as a platform to share resources, collaborate on projects related to dementia and brain health, and advocate for equitable health opportunities.

We encourage GBHI community members who are not currently working in the area to join us. If you need advice on supporting individuals with Down syndrome, we are here to help.