Down Syndrome Ireland is currently involved in important research to increase awareness of the condition and work towards improving the care of children with Down syndrome who have been diagnosed with arthritis.
HOW DID OUR MEMBERS GET INVOLVED IN THE RESEARCH?
In 2013, Down Syndome Ireland worked with clinicians in Our Lady’s Children’s Hospital, Crumlin to investigate the increased incidence of arthritis occurring amongst children with Down syndrome in Ireland. As part of this, Down Syndrome Ireland organised clinics in a number of our branches around the country so our young members could be screened for the condition. As a result of the initial findings, DSI teamed up with Arthritis Ireland and Our Lady’s Children’s Hospital, Crumlin to establish a Newman Fellowship in Down’s Arthritis (DA).*
Dr Charlene Foley (pictured) – along with her mentors Dr.Orla Killeen, Consultant Paediatric Rheumatologist in OLCHC, Professor Gerry Wilson, UCD Professor of Rheumatology and Professor Ursula Fearon, TCD Professor of Rheumatology – is conducting the largest study to date regarding Down’s Arthritis.
WHY IS THIS RESEARCH IMPORTANT?
Down’s Arthritis is an under-recognised condition that results in chronic disability and functional impairment. Studies of arthritis in Down syndrome are very limited. There are no published population surveys establishing the prevalence and incidence rates of Down’s Arthritis. This research has allowed us to gather important data through a national screening programme, the first of its kind in Ireland. With the findings of this research, we can push for earlier diagnosis and better treatment outcomes for our members. Our research has also increased both knowledge and awareness in the public and professional fields about Down’s Arthritis.
WHAT WERE THE FINDINGS OF THE RESEARCH?
Key Findings of the research were:
- A range of musculoskeletal disorders have been detected and documented through the screening process.
- After pes planus (“flat feet”), the most common musculoskeletal finding in our cohort of children with Down syndrome was inflammatory arthritis.
- Twenty-two new cases of DA were detected.
- The suspected prevalence of DA is 18-21/1000, greater than previously reported in the literature.
- Comparable to the limited literature available pre-dating the study, there was a significant delay in a DA diagnosis compared to a diagnosis for Juvenile Idiopathic Arthritis (JIA) in the general paediatric population.
- Downs Arthritis is complicated by drug-associated side effects in a higher proportion of cases when compared to treatment for JIA cases.
Looking for greater detail on the research? You can read the Detailed Preliminary Findings here.
You can also view the Press Release we issued here.
HAS THERE BEEN ANY CHANGE AS A RESULT OF THE RESEARCH SO FAR?
Our research has already made a difference as children with Down syndrome are now presenting earlier due to the increased awareness about the condition in the public and professional fields. As a result, timely diagnosis and treatment leads to improved clinical outcomes, which translates to a better quality of life for children with Down’s Arthritis.
We are grateful to our members who took part in this process, but we still have further work which we hope will help us better understand Down’s Arthritis in terms of its genetic, immunological and histopathological origins. We are still actively recruiting to the study and we invite families to get in touch to find out more if they would like their child to be involved. Dr. Charlene Foley, Clinical Research Fellow, would be delighted to meet with families to discuss the research and screen children for arthritis. Even if your child does not have arthritis, they can still be a very valuable addition to the study. If you think you would like to get involved, please contact [insert details]
WHAT TO LOOK FOR AS PARENTS
Consider seeking the opinion of your doctor if you notice any of the following;
- A change in your child’s behaviour e.g. seeking comfort, irritability, dislikes holding your hand (may suggest arthritis of the fingers or wrist)
- Subtle adaptations to overcome difficulty e.g. bum shuffles down stairs
- A change or dis-improvement in handwriting
- Regression in motor milestones
- Your child becomes less active
- Your child walks with a limp
- Your child is slow to get going in the mornings, may suggest early morning stiffness, a sign of arthritis
- Joint swelling, maybe a sign of inflammatory arthritis
- Your child bites their fingers or rubs a particular joint, may suggest arthritis here
WHAT TO CONSIDER AS HEALTHCARE PROFESSIONALS
- Down’s Arthritis is 18-21 times more common than JIA in the general Paediatric population.
- Have a high index of suspicion of Arthritis when assessing a child with Down syndrome presenting with change and/or deterioration in function and mobility.
- Small joints, wrists and knees are the most commonly affected sites.
- Down’s Arthritis may often be insidious and asymptomatic.
- A child with Down’s Arthritis may present with minimal clinical signs, i.e. joint pain, joint swelling or early morning stiffness.
- Look for subtle signs from clinical examination that may suggest a possible diagnosis of Down’s Arthritis, e.g. loss of range or loss of hyperextension, especially if there is asymmetry between both sides. This may suggest restrictions from undiagnosed/untreated Down’s Arthritis.
- MRI with gadolinium contrast should be the gold standard for definitive diagnosis of Down’s Arthritis. Consider if any concerns, as clinically there can be little to aid with diagnosis.
- Children with Down syndrome should have a Musculoskeletal Assessment as part of their Annual Surveillance Programme.
*We are very conscious of correct terminology, Down’s Arthritis is a clinical term and is not an abbreviation for Down syndrome *
We formally launched the updated Medical Management Guidelines for children and adolescents with Down syndrome in Ireland in February. The guidelines provide both you as parents and professionals that work with your child advice on monitoring your child’s health. You can find the updated guidelines on our website HERE.