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Evidence Supports Health Guidelines for Down Syndrome

One of the first studies to examine the full lifespan of people living with Down syndrome (DS) has provided evidence in support of health guidelines specifically for people with the condition.

Life expectancy for people with DS had increased dramatically over the last 80 years or so, yet people with the condition still died at an earlier age than people in the general population or those with other intellectual disabilities, said the authors of a new study, published in The Lancet. This meant that there was an "opportunity to improve health outcomes for this minority", they said.

There continued to be disparities in surveillance, diagnosis, and treatment of common health conditions in people with intellectual disabilities, including those with DS, highlighted the authors, with ongoing premature mortality and excess morbidity identified in these groups.

In April 2022, the Down Syndrome Act was introduced in England, which stipulated that the Government must provide information to the NHS and local councils on how to provide the most appropriate care and support for people with DS.

"Whilst we know that people with Down syndrome are at a higher risk of developing certain health conditions, there is little research to show the patterns of occurrence and the relations between the conditions," the authors pointed out. 

They highlighted that health guidelines for people with DS had so far lacked robust evidence, and so they set out to comprehensively estimate the risk of multiple morbidity across the lifespan in people with DS compared with the general population, and with controls with other forms of intellectual disability.

Some Conditions More Likely, Others Less Likely

The study, by the European GO-DS21 consortium – which is made up of 12 partners from six European countries – utilised data of 10,204 people with DS, 39,814 controls, and 69,150 people with intellectual disabilities from the UK Clinical Practise Research Datalink (CPRD) GOLD database between 1 January 1990 and 29 June 2020.

It compared the health information of people with DS to that of the general population and those with intellectual (or learning) disabilities to identify patterns around 32 health conditions associated with DS. 

The researchers revealed that people with DS had much higher rates of dementia, epilepsy, thyroid issues, and sleep apnoea, but were less likely to develop high cholesterol, high blood pressure, solid cancers, or mental health disorders when compared with the general population, and when compared with those with learning disabilities who didn't have DS. 

Kidney disease was more than 3.5 times more common in people with DS compared with the general population – and was also more common compared with people with different intellectual disabilities.

In childhood, people with DS had higher rates of obstructive sleep apnoea, haematological malignancy (e.g., leukaemia), and inflammatory bowel disease (e.g., Crohn's disease), with these conditions becoming less common with increasing age.

They also found that some conditions – including seizures, sleep disorders (e.g., insomnia), and strokes – occurred around the same time as dementia onset, which they postulated could help with understanding dementia better in people with DS.

People with DS and people with different intellectual disabilities did not differ in their rates of obesity, but it was more common in both than in the general population, the authors pointed out.

The researchers reported other new findings, which included that among people with DS:

  • Those who had one health condition were more likely to have certain other conditions – for example, obese people were more likely to have obstructive sleep apnoea, but also dementia and thyroid problems
  • Those who had one cardiovascular disease, such as high blood pressure, were more likely to also have another, such as ischaemic heart disease or stroke
  • Congenital heart disease was around 10 times more prevalent than in people with intellectual disabilities (23.21% versus 2.40%), and almost 35 times more prevalent than in controls (0.67%)
  • Dementia was nearly 95 times as high as in controls
  • Constipation and cerebrovascular disease were more than 2.5 times as high as in controls
  • Thrombosis, psychosis, obesity, and peripheral autoimmune conditions were twice as high as in controls

Vital Recommendations

Across their lifespan, people with DS had a varied incidence of multiple morbidity, broadly related to age-associated trajectories, explained the authors. 

It was "vital", they urged, that:

  • People with DS were proactively offered health monitoring, diagnosis, and treatment throughout their life, with treatments adjusted to meet their individual needs
  • Specialist services with expertise in recognising and managing multi-morbidity were available
  • Health surveillance was tailored specifically for people with DS and not based on general population guidance
  • Health promotion strategies such as exercise, weight management, and healthy eating should be inclusive and appropriate for people with DS and be offered alongside other medical interventions
  • Further research was undertaken better to understand health patterns in people with DS and ensure optimal preventative and treatment strategies were implemented

The researchers pointed out that people with DS experienced a wide range of health conditions throughout their life, but the risks were not static and changed with age. Moreover, the risks were different to those observed in the general population – something they remarked that previously had "largely been overlooked".

"The risks may stack up, with several health conditions arising alongside each other," they cautioned.

Dr Elizabeth Corcoran, Down Syndrome Research Foundation UK chair, and a founding member of the National Down Syndrome Policy Group, said: "Children and adults with Down syndrome have been known to have unique health challenges for many years. 

"This research confirms the health complexities facing people with Down Syndrome , and their carers, as they navigate the health system to have their health needs met, frequently falling between the cracks."

She stressed that the consequences of offering a 'one size fits all' medicine for those with learning disabilities were easy to see from the data. "People with DS have unique health differences that need to be acknowledged, anticipated and treated in a timely manner,” Dr Corcoran said.

Peter Brackett, National Down Syndrome Policy Group chair, underlined that the research was timely, as the guidance for the Down Syndrome Act was currently in development. 

He hoped that "comprehensive guidance fully conversant with the relevant research and experiences" would result in people with DS receiving "better healthcare and living, longer healthier lives".

The GO-DS21 project received funding from the European Union's Horizon 2020 research and innovation programme. The authors declared no competing interests.