World Down Syndrome Day is 21st March and is an annual global event. The 21st is deliberately chosen to represent the triplication of the 21st chromosome, which causes Down syndrome. The average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Raising awareness of the continuing inequity of care is vital as many people with Down syndrome are denied access to good healthcare and education, and often denied making decisions about their lives (Down Syndrome Association (DSA), 2019).
Approximately 1 in 800 babies annually will be born with Down syndrome. The condition is named after John Langdon Down (1828–1896), a British physician who first described the syndrome in 1866 by observing some key physical features, including low muscle tone, flat bridge to the nose, shorter neck and marked epicanthic fold. People with Down syndrome can present with several health issues, specifically congenital cardiac disease, poor muscle tone, vision issues, including cataracts, hearing loss, and epilepsy among others.
People with Down syndrome have a learning disability, or a reduced intellectual ability, and potential difficulties with everyday activities. It does appear at odds that an individual with an additional chromosome could have an intellectual ‘deficit’.
There is a wide range of learning disability with many individuals living a full and productive life, from actor, dancer and model, Sarah Gordy MBE, model Ellie Goldstein, who featured on Vogue and for Gucci Beauty, and Ruben Reuter, Channel 4 news correspondent. In the Netherlands, a restaurant chain called ‘Brownies and Downies’, is a non-profit coffee shop, founded by a chef and special needs teacher to provide employment opportunities for people with learning disabilities.
Not all people with Down syndrome are able to work and live independent lives, and many have supported living arrangements, or live with older family caregivers such as parents and siblings, which can cause emotional and financial strain.
One of the key barriers to good healthcare is the lack of understanding among healthcare professionals about Down syndrome despite the Equality Act 2010 defining several protected characteristics, key of which was disability. Pain management in individuals with Down syndrome can be challenging due to their disability, hampering self-reporting of pain, which might be expressed with problematic behaviour. De Knegt (2016) reported that adults with Down syndrome comprehended a facial scale (75%) better than a numeric scale (43%) in pain estimation and may answer ‘yes’ to a closed question about their pain.
Diagnostic overshadowing, when healthcare professionals make assumptions about people with learning disabilities without exploring other factors, is still sadly seen today. Recently, one patient with Down syndrome reported that ‘an eye doctor was unsure of sight loss and said to a nurse in front of me – it doesn't matter - she has Down's syndrome.’ (DSA, 2019). Clearly, effective communication is key – individuals with Down syndrome are people. ‘Would she like a drink?’ summarises the, hopefully historic, patronising type of approach to be avoided. Never accept that a patient with Down syndrome cannot consent or does not have capacity. Some individuals may not of course – but until you ask, you will not know! Remember – never assume.