Down syndrome (DS), also known as Trisomy 21, is the most frequent genetic cause of intellectual disability globally. Prevalence of DS is estimated at 6 million people worldwide with approximately 800,000 estimated in the US and Europe. Each child with Down syndrome is different and has a combination of abilities and needs. Down syndrome is a result of a natural cell division error.
Individuals with DS exhibit distinct disease risk profiles compared to the general population, including a heightened susceptibility to multimorbidity and specific conditions such as immunological dysfunctions, congenital heart defects, vision and hearing impairments, hypothyroidism, and mental health disorders like depression and anxiety. A notable co-occurring condition is Alzheimer’s disease (AD), which is the leading cause of mortality in adults with DS in the Global North.
While these disparities in health and healthcare access are evident globally, they are compounded when they intersect with demographics such as race, socioeconomic status and country of origin. With the vast majority of research conducted in the Global North, little is known about the views, needs and health trajectories of people with DS in the Global South.
Down Syndrome Incidence by Country
Early Reports and Recent Research
Early reports indicated a low prevalence of Down's syndrome (DS) in black African children. More recent research demonstrates an incidence similar to, or higher than that reported to occur in First World populations. However, the craniofacial features of the African DS newborns approximated more closely those of the normal African neonates, than was the case in the caucasian DS and normal neonates.
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One of the possible reasons for underreporting of DS in Africa, appears to be the lack of recognition of the problem at birth.
Challenges and Disparities in Africa
Globally, individuals with Down syndrome (DS) face profound inequities in social and health care access. In Africa, people with the condition often face additional barriers, a shorter life expectancy because of limited healthcare, delayed diagnosis, and scarce support systems. Opportunities for education and employment can also be hard to come by which exacerbates the stigma they experience.
The challenges of stigma, fragmented healthcare access, and inadequate data that hinder dementia care in the general population in Africa are strikingly similar to the systemic barriers faced by people with DS throughout their lives. Both groups encounter societal obstacles that delay diagnosis, fragmented health services that fail to meet their needs, and a lack of robust data to inform effective policies and interventions.
Social inequities and stigma worsen disparities for individuals with DS, beyond variability in intellectual disability and compounding the impact of (often untreated) co-occurring conditions. Globally, access to education and employment opportunities remain significantly lower for people with DS compared to the general population.
Historically, people with DS in many African communities have faced significant exclusion, with families often concealing a diagnosis due to societal shame or fear of ostracization. This stigma manifests across families, communities, and healthcare systems, limiting service access and creating social isolation for individuals with DS and their families. and perpetuate a cycle of exclusion, limiting opportunities for individuals with DS to participate in society and access adequate care.
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In Kinshasa, Democratic Republic of Congo, people living with Down’s syndrome are excluded from Congolese society, taunted by their peers. Traditionally believed to be evil spirits.
According to Dr Gerrye Mubungu, a geneticist in Kinshasa: “We are in Africa. We have beliefs - mystical and religious - that go against what science tells us. We say that if someone is born with a disability, it is either witchcraft or a spiritual issue that’s the root of the problem.”
Community Support is Crucial for Families with Down Syndrome
Healthcare Inequities
Early diagnosis of DS is crucial for managing associated health conditions and improving life expectancy. In South Africa, diagnosis is often delayed with just over half of clinical diagnoses confirmed by cytogenetic testing, with an average age of diagnosis of over one year. The capacity of the South African health system faces significant challenges that exacerbate these delays.
The public health sector contends with staff shortages, fragmentation of services, and financial constraints, all of which contribute to reduced efficiency in healthcare delivery. Health services are heavily strained due to a high disease burden, a situation worsened by limited financial resources and ineffective human resource management.
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Maphumulo et al. [28] reported that despite the high prevalence of thyroid dysfunction among children with DS only 7% of affected children with DS received appropriate care, indicative of broader issues within the healthcare system, including inadequate screening and follow-up. Similarly, access to necessary medical interventions, such as cardiac surgery, was limited for children with DS in South Africa with misconceptions about surgical outcomes and cost-saving measures as major barriers to accessing cardiac surgery.
With over 200,000 traditional healing practitioners (THPs) in South Africa, far exceeding the approximately 46,000 Medical Doctors (MD), THPs are integral to the healthcare system, catering to 70-80% of the population, particularly in rural and marginalized communities where access to healthcare may be limited. As MDs and THPs often share patients, there is a need for improved communication and mutual understanding among all in the healthcare ecosystem to meet the needs of the DS population.
The Role of Education and Support
Educating the public about Down’s syndrome is a priority for activists such as Aimee Luzayadio, the founder of Jean V Espoir et Compassion (Jesco), the first association in DRC dedicated to supporting people with Down’s syndrome and their families. “For Jesco, it’s very important to explain that it’s not the parents’ fault, it’s not the child’s fault - it’s just an extra chromosome,” she says.
Mami Mayamona attended a mainstream primary school where she learned basic literacy skills. After their father’s death, Thierry became her guardian. Mami discontinued her formal education due to the family’s difficult financial situation. Thierry became the general secretary at Jesco. He hopes his sister will achieve her long-term goals.
Inclusive education promotes tolerance and respect among all students, which is beneficial to both the students with and without Down syndrome. Schools that are inclusive make room for children with Down syndrome in regular classrooms.
Overcoming Medical Problems
While life expectancy in the Democratic Republic of Congo (DRC) is 60 years, local physicians agree that many Down’s syndrome patients die before their second birthday owing to heart problems. Diagnosing Down’s syndrome costs about $500 in Kinshasa and DNA tests are processed in Belgium because of a lack of equipment in Kinshasa. Such examinations are expensive for most Congolese families, who earned a yearly average income of $410 in 2015.
Blaise hasn’t let his late diagnosis interfere with his development. He enjoys drawing - earning him the nickname “the artist” at home. His family hopes he will continue to excel in art. The 45-year-old is also an avid football fan and plays the sport with his brother, who coaches a local team. However, his love for the game has to be kept within the confines of his neighbourhood.
Raymond Mafuala watches his brother Blaise Kanza draw. Before attending one of Jesco’s information sessions, Blaise’s family didn’t know that he had Down’s syndrome. “Since his birth, there have been clues,” explains Raymond.
Pushing for Change
Teaming up with parents such as Marie, Jesco is also lobbying the government to bring about policy change. “Our goal is to raise awareness about Down’s syndrome to attract our leaders’ attention so that they find a solution for these people,” says founder Aimee Luzayadio. “My priority is that they can find a place in Congolese society. These individuals aren’t ‘Mongols’ - they are Congolese.”
Alzheimer's Disease and Down Syndrome in Africa
Research suggests link between Alzheimer’s and Down syndrome
As life expectancy improves for people with Down syndrome (DS) in Africa, the risk of developing DS‐associated Alzheimer's disease (DSAD) will rise. Given the lack of epidemiological, cognitive, and biomarker data on adults with DS in Africa, accurate diagnosis, care planning, and inclusion in global research are hindered. However, innovative, scalable solutions-such as mobile biomarker sampling and culturally adapted cognitive assessments-offer an opportunity to integrate scientific advances with Africa's strengths in community-based care.
Mainstream educational challenges persist. Addressing these educational disparities is essential for enhancing cognitive reserve and improving life outcomes for individuals with DS in Africa. However, the effectiveness of such interventions often hinges on broader systemic factors that influence access to services and support.
The Atlantic Institute and the Imbizo
The Atlantic Institute is a global community of Atlantic Fellows focused on tackling persistent inequities across the globe through advocacy, awareness and research. This Imbizo (a traditional meeting or gathering in the Zulu and broader Nguni cultures for community consultation and decision-making) was held on 22nd November 2023 in Johannesburg to identify key areas of inequity for the DS community and to foster collaborative solutions from the shared expertise. The Imbizo began with facilitators from the Atlantic Institute outlining the event’s goals, emphasizing collaborative efforts to support individuals with DS and the importance of inclusivity and diverse perspectives.
Mortality Rates
In Northern, Eastern, Central, and Southern Africa, infant mortality attributed to DS has decreased between 2000 and 2021 by 42%, 19%, 26%, and 16%, respectively. However, even in 2021, mortality rates in African regions were at least seven times higher than in the United States (approximately 17.8 per 100,000 vs. 2.42 per 100,000), a disparity that mirrors that observed in the general infant population, where mortality is approximately eight times higher in Africa than in the United States (42 per 1000 vs. 5 per 1000 live births). The elevated risk in infancy accounts for most of the difference, with mortality rates for people with DS in Africa becoming more comparable to the US in later childhood and adolescence.
Using current DS death rates and population data, projections for DS dementia cases in Africa for 2080 have been made, assuming infant mortality matches US levels and 23% of the DS population is over 40‐years and at risk for AD. If DS infant mortality were reduced to US rates, the proportion of DS‐related AD cases would increase regionally by 12%-23% (Table 2). These projections emphasize how reducing infant mortality will lead to a transition in the epidemiological burden from childhood‐related conditions to AD in later life, highlighting the need for tools to refine our understanding and early detection of DSAD in Africa.
Cognitive Assessment and Biomarkers
Cognitive assessment is critical for detecting early signs of DSAD, guiding interventions, and understanding disease progression. Fluid biomarkers, in particular the rapid development of blood‐based biomarkers for AD pathophysiology, offer a critical opportunity to advance understanding and diagnosis of DSAD globally, but no studies to date have examined these biomarkers in individuals with DS in Africa.
By working collaboratively and building on Africa's existing strengths, such as its traditions of community‐based care, approaches can be developed that are not imposed but co‐created, ensuring sustainable and contextually relevant solutions for DSAD cognitive assessment.
Non-Communicable Diseases (NCDs)
Non‐communicable diseases (NCDs) are emerging as a significant health concern in Africa, particularly in sub‐Saharan regions. Access to cardiac surgery has been a defining factor in the increase in life expectancy for individuals with DS in HICs. While healthcare infrastructure forms the foundation of improved outcomes, the broader social and educational environments also play a critical role in shaping the lifelong trajectories of individuals with DS.
Addressing Stigma and Improving Care
Stigma surrounding DS and ID significantly affects care and quality of life across Africa. Improved communication and collaboration between THPs and medical professionals could bridge knowledge gaps, fostering trust and ensuring culturally relevant care for individuals with DS and dementia. Community engaged research approaches, like community based participatory research and patient centered outcomes research are pivotal for addressing stigma, improving service access and increasing health equity.
For families caring for individuals with DS in Africa, the caregiving role often intersects with deeply ingrained societal stigmas and structural inequities. Policies should focus on strengthening informal caregiving networks while expanding access to formal healthcare and support services.
Advocacy and awareness dominate the service landscape, with organizations in countries such as Ethiopia, Kenya, Uganda, Nigeria, Ghana, and South Africa leading efforts to promote rights and societal inclusion. While these services provide important groundwork, specialized services such as healthcare, education, and employment remain insufficient and unevenly distributed, often limited to countries like Morocco, Egypt, and South Africa, which provide isolated examples of integrated care.
Planning for DSAD requires embedding care into primary healthcare systems to ensure services are accessible across all regions.
Support and Awareness Campaigns are Essential
