How does Diagnostic Overshadowing affect those with Down syndrome?

Last week we celebrated World Down Syndrome Day (always celebrated on 21.03 to represent the 3x 21st chromosomes), which is a great opportunity to celebrate Oriana and all her other friends with Down Syndrome! It also is a day that many DS charities use to advocate and raise awareness of different topics and themes.

Although it is now 2025 and many things have moved on and improved greatly for those with DS in the last 50 years or so (e.g. longer life expectancy due to improved medical care and living conditions, better integration into communities, opportunities for education, research into how those with DS learn and what strategies work best etc. ) there are still many areas that need more work. When I was thinking about what areas I would like to see improvement in for Oriana's care and support, and what things we have been recently affected by, one of the things that came to mind was Diagnostic Overshadowing. Unfortunately we are not alone in experiencing this, and many other families of individuals with DS have shared the same frustration.

Diagnostic Overshadowing is described as "a bias where a healthcare professional attributes a patient's symptoms or behaviors to an existing disability or mental health condition, neglecting to explore other potential causes".

We have had a few recent experiences of this which have been really surprising to me in an age where there is so much information on DS, how people can have multiple diagnosis, and where we are encouraged to see each person as an individual.

One occasion was when Oriana lost clumps of hair. This left her with little bald patches on her scalp and began to really concern me. Oriana has a history of thyroid issues (not uncommon with children with DS) and so my immediate thought was that her bloods would need to be taken to check her thyroid function was still within the normal range and that she didn't need medication again. However, when she had her paediatrician appointment and we raised this concern we were told that "it was normal for a child with DS to lose their hair" and so the doctor wasn't concerned and wouldn't refer us for blood tests.

The doctor wasn't completely wrong - it may be more common for a child with DS to lose patches of hair over a typically developing peer. But this is often due to another medical issue which a person with DS is more likely to have (such as thyroid issues / issues with absorbing certain nutrients).

An easy way to identify diagnostic overshadowing, is by asking "if a typical child presented these symptoms, would there be further action/investigation?". I am sure that if a typical child was taken to the doctors having lost patches of hair with no obvious reason, it would be looked into. Instead, in our situation it was dismissed as being 'normal' just because Oriana has Down Syndrome.

It is without a doubt that great strides have been made in the care and approach given towards individuals with DS, but during a month where families, individuals, and charities are advocating and raising awareness of life with DS, it is also clear that there is still much work to be done in healthcare, social care, education and employment for those with DS.