Diagnostic Overshadowing From A Professional View



I first experienced the phenomena of diagnostic overshadowing when I sat in Accident & Emergency with my younger brother David while he winced in pain. He had an abdominal hernia with intestinal obstruction. I knew if I was the one lying on that gurney I would already be on a morphine drip for the pain.

They don’t experience pain the same,” said the junior doctor as he fumbled through the examination, failing to explain to my brother what he was doing at each step, including intimate examinations.

A medical student myself, I felt scared for my brother and uneasy about the care he was receiving, but I couldn’t quite say why.

Years later, now a qualified doctor and in the field of psychiatry, I finally understood what happened that day. Diagnostic overshadowing is when medical professionals attribute a symptom or set of symptoms to someone’s previously held diagnosis or characteristic. For example, when someone with autism who is restless, avoiding food and showing some challenging behaviour and the doctor says, “Oh, that’s normal for autism” when in fact they have a toothache.

First described in the 1980s by Professor Steven Reiss in people with mental health issues, it has sadly become clear that diagnostic overshadowing is a widespread problem affecting those with disabilities, the elderly, those with chronic health issues and other underserved groups. By now you may be thinking of the last clinical encounter you had with your loved one with Down syndrome and you’d be right to. Here at the Downs Syndrome Research Foundation UK, and clinicians like Dr Erica Peirson (a specialist in Down syndrome) frequently hear reports of missed diagnoses, ignored pleas for help, and outright medical neglect within our community.

Conditions may be missed, ignored, or under treated, by professionals for many reasons, says Dr Elizabeth Corcoran, Chair of the Downs Syndrome Research Foundation UK.

The reasons you may have experienced it personally will be unique but could include: a lack of training; myths about Down syndrome passed down as “medical education”; communication difficulties and discomfort in the professional; or, sadly, outright discrimination. Lack of research into what constitutes a “healthy” person with Down syndrome still seems to be weighing us down as a community. Are separate growth charts still warranted today when we can fully treat all biochemical differences seen in Down syndrome? Or is there a risk we normalise poor growth when we print a new chart just for people with Down syndrome?

In a world where parents and carers must advocate for education rights, I am saddened to tell you that you must continue to be vigilant in doctors’ consulting rooms. Not all doctors (or health professionals) are likely to fall foul of diagnostic overshadowing but it can happen to everyone in healthcare – young or old, “nice” or “arrogant”, professionals.

What can you do?

Listen carefully and ask the professional to talk through their reasoning in the treatment of your loved one:

– Ask yourself: “Are they making assumptions before taking a full history, examining and performing investigations?”
– Have they included the phrase: “Normal for Down syndrome?” This can be an indicator that they have turned off their diagnostic curiosity and defaulted to an assumption that the situation in front of them is just a typical one for someone with Down syndrome. For example: sluggish; constipated; or sleepy, when in fact they could have hypothyroidism.
– Ask the professional what their treatment plan would be if your loved one did not have Down syndrome. This question alone can often rouse a lazy or reluctant doctor to think more deeply about the child or adult in front of them.
– Don’t be afraid to speak up. Ask for a manager, senior doctor or nurse if you are unhappy with the care they are, or are not, receiving. If you feel unable to do this, ask a friend or patient advocate to join you and help you to speak up for their rights.

We’ve come far but we’re not home yet.

Those who have gone before us fought long and hard for heart surgery to be offered as standard when congenital heart defects are present in babies with Down syndrome. However, having Down syndrome can mean a candidate isn’t eligible for the transplant list should the patient develop a need later in life.

In 2020, prejudice and medical neglect still affect the care that those with Down syndrome receive. Lack of recent studies is often used as a reason to ‘undertreat’ people with Down syndrome, keeping expectations and hopes of good growth and healthy progression hard to grasp.

Through our continued efforts funding medical research to improve the health and outcomes for those with Down syndrome, we at the Foundation are doing what we can to make low expectations a thing of the past. We need your help to do this, though.

Together, we can ensure that professionals are educated about Down syndrome, and that families feel empowered to advocate for their loved ones, said Dr Elizabeth Corcoran. 


Written by Dr Elizabeth Corcoran


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