Down Syndrome for Emergency Physicians

Author: Liz Herrieven / Editor: Nikki Abela / Reviewer: Liz Herrieven / Codes: / Published: 21/03/2018 / Reviewed: 21/03/2025

Downs syndrome wasnt ever a topic I thought Id need to learn a huge amount about. I knew the basics: learning disability, congenital heart disease, happy, loving people who like musicright?? Then Amy came along. My beautiful, stubborn, funny daughter tipped my life upside down. She is now nearly 19 (I know!) and has had a rocky road. Shes taught me a great deal about life, love, priorities and values. Shes also helped me learn some valuable lessons as a clinician, particularly with regards to assessing and managing children and adults with Downs Syndrome.

First things first Terminology

In the UK we have, until recent years, used the term Downs Syndrome. The US and Australian terminology is now creeping in; Down syndrome (Down neither owned nor had the condition). Does it matter? Probably not. What does matter is that people with Trisomy 21 are people first.

Amy is a girl who has Down syndrome. She is not a Downs girl, or even a Downs.

 

Down syndrome is almost ubiquitously talked about in negative terms by the medical profession. Prospective parents are advised to have screening to assess the risk of their baby having Down syndrome. Now that I have Amy, I can say that there is nothing negative or risky about her. She can be bloody-minded sometimes and throw one hell of a tantrum, but thats as far as it goes! Why dont we talk about the possibility or chance of having Down syndrome, then give parents the information to make their own minds up? (Theres some great resources about pregnancy and antenatal testing here).

This might seem insignificant, but its a touchy subject for parents of children with Down syndrome. Keep those parents on the right side and use the right phrases. Parents of children with additional needs are used to fighting for everything with everyone. Get off to a good start by showing them you see their child as a child, not a chromosomal abnormality. For more on terminology, read this.

Co-morbidities

People with Down syndrome have an increased risk of several comorbidities. Up to 60% of babies are born with some form of congenital heart disease AVSD being the most common. Pulmonary hypertension is also common. These will of course impact how children respond to even simple infections.

Gastro-intestinal problems are frequent, accounting for 20% of hospital attendances for children with Down syndrome. Tracheo-oesophageal fistula (as opposed to the other type of TOF beware abbreviations!), duodenal atresia and ano-rectal anomalies are usually corrected in the neonatal phase, but milder versions may slip through baby checks. Hirschsprungs is common, as are other forms of constipation, feeding difficulties, gastroesophageal reflux, and coeliac disease. For adults with Down syndrome, constipation is a common problem and can be difficult to manage. Its important to considerate it in presentations to the ED, as it can also kill see here for one of many very sad examples.

Respiratory infections are very common in people with Down syndrome and are often more severe than in the general population. Smaller airways and tubes together with thicker and more copious secretions are not a great combination.

Other contributing factors include congenital heart disease, airway anomalies, hypotonia, gastroesophageal reflux and immune dysfunction. In adults, aspiration pneumonia is more common, and linked with poor oral health, reflux and postural issues.

People with Down syndrome are far more susceptible to infection than other people. The reasons for this are multifactorial and include a general immune dysfunction. I remember well when Amy first developed the chicken pox rash. I shrugged my shoulders and thought Well, theres a childhood infection to cross off the list. Two days later she was in a helicopter on her way across the country to the nearest available PICU bed. Ive never been so scared and so aware of the truly important things in life (massive, massive thanks to all who cared for her so well both in Hull and at Alder Hey).

The COVID-19 pandemic showed that people with Down syndrome were at increased risk of both COVID-19 and being poorly managed when acutely unwell, including missing out on life-saving treatments and being inappropriately considered for DNACPR orders purely for having Down syndrome.

Infections often present in fairly non-specific ways diarrhoea and vomiting might not be due to gastroenteritis but may, instead, be due to pneumonia, for example. Signs and symptoms may also be quite subtle. Listen and pay attention if parents or carers are concerned. They may be picking up on soft signs of illness, such as looking pale, being quiet or refusing a favourite food all of which may be due to a serious acute illness. A full, thorough examination is needed to exclude other sources of infection.

Musculoskeletal conditions and injuries present a challenge. People with Down syndrome often have hypotonia and poor gross and fine motor function. This, along with sensory processing differences (causing over or under-appreciation of pain), and communication problems make assessment very difficult. Ligamentous laxity and joint instability can cause issues, plus some non-trauma-related conditions are more common SUFE, Perthes, osteoarthritis, inflammatory arthritis plus conditions such as talipes and flat foot. Amy had bilateral talipes and a very unstable hip. She never even flinched, although I could feel it clunking in and out of joint as she moved when she was little. After several operations her gait is still very unstable and she wears supportive boots with special insoles.

People with Down syndrome are also at risk for neurological conditions secondary to cervical spine instability. Amy has some atlantoaxial instability which occurs in up to 20% of children with Down syndrome. Only about 1% are symptomatic and identifying those at risk is difficult. Plain films have poor predictive value. Symptoms of instability can develop insidiously or acutely beware the person with Down syndrome who has new onset weakness, a deteriorating gait or altered bowel or bladder function. The potential for instability also needs to be remembered when performing airway manoeuvres.

Children with Down syndrome are at increased risk of leukaemia. They are also at increased risk of Moya Moya, which causes progressive cerebrovascular disease and a risk of stroke. Seizures are more common at all ages, including infantile spasms in babies and a late-onset form of epilepsy which is associated with the development of dementia. Dementia, usually Alzheimers, is more common in people with Down syndrome and presents at an earlier age, often the early 40s. Along with this, many other illnesses associated with aging also present at an earlier age in people with Down syndrome. All autoimmune conditions are more common too, including thyroid disease, coeliac disease and diabetes.

Terrified yet?? For more see this for more information on health in Down syndrome, from the Down Syndrome Medical Interest Group (DSMIG), this, from the Downs Syndrome Association on health issues to be aware of, and this, aimed at GPs doing Annual Health Checks, but also relevant for the non-specific presentation to the ED.

Getting the best from your assessment

People with Down syndrome have a particular learning profile. They do not have a global developmental delay. They have relative strengths in empathy and social understanding.

For many reasons, children with Down syndrome tend to have a specific delay in speech and language, over and above that expected for their level of learning disability. Their motor function often isnt great and they usually have large tongues in relation to their mouths, so forming words is difficult. There is often a fluctuating hearing loss and auditory short-term memory is poor. You cant learn words or language if you cant hear or remember what youve heard. Speak slowly and clearly, with good eye contact. Simple sentences are easier to remember and respond to than complex questions. There may be a sensory processing delay, particularly with regards to hearing, so when asking a question give the person time to process what they have heard and to formulate a reply. This often takes several seconds. Understanding is usually way ahead of speech and language abilities, so they will have understood more than they let on.

Visual learning is a strength. Amy has been a fluent reader since she was small, although she finds understanding what she has read more difficult. Make the most of this strength by using visual aids to help understanding. Simple gestures or even signing such as Makaton (which is used to support the spoken word) is great, as are pictures and photos.

You can find some free Makaton resources, links to further training and some downloadable communication tools in the RCEM Learning Disabilities toolkit.

Many people with Down syndrome have sensory processing differences and are very wary of new or unusual things. About 1 in 10 will also have autism, making this even more of an issue. Explain what you are going to do in simple terms. Things such as stethoscopes, sats probes, BP cuffs and oxygen masks can by terrifying. People with Down syndrome often spend far more time than is healthy at healthcare appointments. Their visit to the ED will come with a lot of baggage. Previous bad experiences of being examined or having blood tests for example will make your job trickier. Amy has the strength of 10 men when someone tries to take blood from her, plus her veins are terrible (and the poor clinician has the worry of a doctor mum nearby). Make it less difficult for the next clinician in line by keeping things as calm and friendly for your patient as possible.

Examination

As with all children you need to be a little opportunistic listen to the chest when they are quiet, observe motor function and range of movement during play, and get as much information as you can from watching. For adults, consider using visual communication tools to explain what you need to do and why. You may need to spend more time than usual, too.

You also need to be thorough. As infections can be significant and present atypically, you need to hunt for them. Explain things where necessary and leave scary stuff like the ENT examination to the end.

People with Down syndrome are not daft!! Amy has a fantastic knack for distracting people from things she doesnt want them to do. She will charm them, make them laugh and defer the unwanted intervention for ages.

Children with Down syndrome are not great at controlling their temperature. They will often not mount a pyrexia or may even be hypothermic with infection.

Similarly, their control of systemic vascular resistance tends to be poor. Parents will tell you their child often has corn-beefy legs and becomes very mottled in cool temperatures. The important thing is to put your findings in context with everything else.

A well-looking child, smiling and waving, with normal observations and no other abnormalities on examination except for those legs, is probably well. A child who is not interacting with you, is tachycardic or tachypnoeic for example, probably isnt.

From personal experience (and I can find nothing in the literature about this), children with Down syndrome seem to develop petechiae far more often than other children. When Amy was tiny I only had to look at her funny for her to come out in a large crop of little non-blanching red spots. After her third set of negative cultures and normal bloods I started to become a little more relaxed about it. Many other parents I have met have said the same. Again, context is all important.

Parents

As a doctor and a mum, I know that parents can be flipping hard work. But I also know that parents know their child best. You cannot begin to assess a child with complex health problems without knowing what is normal for them. Do not be embarrassed to ask parents wont take offence and will appreciate you recognizing their experience. In particular, hypotonia and reduced level of responsiveness can be red flags if not usual for that individual child.

Parents of children with additional needs spend a lot of time at healthcare appointments. If they have been worried enough to bring their child to the ED, we should certainly be worried too.

Diagnostic Overshadowing

Dont fall into the trap of thinking the symptoms and signs youre faced with are due to the Down syndrome itself. If you do this, you are certain to miss significant illnesses. Most people with Down syndrome are, on a day-to-day basis, fit and well, despite their potential to become seriously unwell.

In summary keep in mind that people with Down syndrome can get sicker than you expect, more quickly than you expect, but keep calm its only an extra chromosome!

Infographics by Elizabeth Herrieven & Lynda Dykes via Dr Linda Dykes MEDICAL EDUCATION RESOURCES

Further resources