Health and medical professionals
Information, help and advice for health and medical professionals
In this section, you will find the Medical Management Guidelines for Children and Adolescents with Down syndrome which include the most up to date research and information on Down syndrome, you will also find information on the latest research into Down’s Arthritis and what symptoms to look out for and more.
Medical management guidelines for children and adolescents
Down Syndrome Ireland has worked for many years alongside the Department of Paediatrics and Child Health, Trinity College, Dublin and the National Children’s Hospital, Tallaght to carry out ongoing research within the area of Down syndrome so that medical professionals have access to the most up to date research and information on Down syndrome.
The Medical Management Guidelines for Children and Adolescents with Down syndrome in Ireland provide medical professionals with advice on monitoring the health of babies and children with Down syndrome. They cover growth, cardiac disease, thyroid disease, ophthalmic disorders, hearing impairment and cervical spine instability.
The guidelines were first developed in 2001 with support from Down Syndrome Ireland and the Down Syndrome Medical Interest Group UK and Ireland. They are reviewed regularly to ensure the latest medical research is included.
This explanatory video was produced as part of a student project at the UCD Centre for Arthritis Research.
Down’s arthritis is an aggressive, erosive, inflammatory arthritis that affects one in 50 children with Down syndrome.
Down’s arthritis is potentially more aggressive than juvenile idiopathic arthritis (JIA), which affects one in 1,000 children. A four year research project found that children with Down syndrome are 18-21 times more likely to suffer from the debilitating disease than children without Down syndrome.
Furthermore, due to a lack of awareness of the increased risk of arthritis in children with Down syndrome, this group is potentially at a greater risk of long-term complications.
The research was undertaken at UCD School of Medicine in partnership with clinicians in Our Lady’s Children’s Hospital, Crumlin and was supported by Down Syndrome Ireland, Arthritis Ireland and the National Children’s Research Centre.
We are working to increase awareness about the condition and towards improving the care of children with Down syndrome who have been diagnosed with arthritis.
Health-care professionals need to 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 advise parents to seek the opinion of their doctor if they notice any of the following:
- A change in their 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 downstairs
- A change or dis-improvement in handwriting
- Regression in motor milestones
- Their child becomes less active
- Their child walks with a limp
- Their child is slow to get going in the mornings, may suggest early morning stiffness, a sign of arthritis
- Joint swelling may be a sign of inflammatory arthritis
- Their child bites their fingers or rubs a particular joint
Download the Down’s Arthritis research – preliminary research findings here.
…more than medical
While there is an abundance of medical information about Down syndrome, there is not a lot which provides real insight into the realities of having a child with Down syndrome.
Our “… more than medical” booklet challenges outdated ideas about Down syndrome and instead provides an insight into the realities of family life with a baby, child, teenager or adult with Down syndrome in Ireland today.
“… more than medical” is a resource for parents with a pre or postnatal diagnosis of Down syndrome for their baby.
It is also an essential tool for professionals and healthcare workers to ensure complete and balanced information is provided to all parents.
We joined forces with Rebekah Docherty and Michelle Clark from Lose the Label CIC – who are both parents of children with Down syndrome, to develop ‘…more than medical’.
The booklet includes a combination of experiences from the charity’s family and adult members from around the country.
The booklet is distributed free-of-charge to maternity and children’s hospitals across the country and HSE Early Intervention Teams.
If you would like to order copies, please contact us at email@example.com or call us on 01 4266500.
Information for Healthcare Professionals - Improving the hospital experience for…
- Hospitals are noisy and unpredictable. This causes problems for all of us, but may be particularly challenging for some adults who have Down syndrome.
- Hearing loss is common, and background noise adds to the difficulties.
- Some degree of language disorder is universal in people with Down syndrome (over and above what would be expected for cognitive level), making it difficult to process spoken instructions and information.
- Feeling unwell, uncertain and insecure makes it even more difficult to process information.
- People who’ve previously had a bad experience in a hospital may experience flashbacks. (Strong visual memory for places and events is common in people who have Down syndrome.)
- Adults with Down syndrome should have all of the same age-appropriate preventive care as the general population, in addition to screening for health conditions over-represented in this population.
Helping patients prepare for hospital appointment/stay
-Ask patients to bring copies of medical records, their medication list and a list of questions they want answered to the appointment.
- Make the experience more predictable by using written or picture lists of the likely sequence of events. For example, if someone presents in ED with a suspected wrist fracture, the sequence might be:
- Reception › Waiting room › Nurse for triage › Cubicle or waiting room › Doctor › X-ray waiting room › X-ray › Cubicle or waiting room › Doctor › Plaster room › Reception for follow up appointment› Home
- Use of resources such as ‘Books Beyond Words’ to help prepare people for forthcoming appointment, procedure, etc.
- If you need to ask questions, try to do it in a quiet environment.
- It’s important to use age appropriate language and tone.
- Always begin your interview by explaining the purpose of the appointment and find out about communication preferences. The patient may require the use of assistive communication devices or interpreters.
- Explain why you are asking questions, using equipment, etc. Let the person know what you are going to do before you do it.
- Always speak to the patient first. Use their caregiver to help facilitate communication, not as a substitute for communication.
- Use short sentences, and count to 10 after talking to allow the person time to think and respond.
- Be aware that abstract language and questions about time will be particularly difficult. Concepts of time can be difficult for some people to understand. Some patients may have little understanding of such measures of time as weeks or months and may struggle to distinguish questions about a single event from questions about duration of a state or condition.
- Open questions will usually give you more information than closed questions, so asking: ‘what happened?’ is better than: ‘did you fall over?’.
- Leading questions can result in some patients giving the answer they think you want to hear or the ‘right’ answer.
- When given a choice, many people will echo the last option you suggest, so if you ask ‘would you like tea or water?’ you may get the answer ‘water’, but if you ask ‘water or tea?’ you’ll probably get ‘tea’. To find out what the person really wants, use written words or pictures and give them time to choose.
- If the person needs to be admitted to a ward, a written (or picture) schedule which outlines what might happen in the day will be helpful.
- Find out the individual’s baseline in terms of alertness, responsiveness, tone, etc. by asking them or a family member in order to make a correct assessment.
- Extra time and resources for choosing meals are useful (see point above about echoing)
During Hospital appointment/ inpatient stay
- Identify yourself and let the patient know what you do and why you are talking to them
- Offer assistance when you feel it is needed; wait until that offer is accepted before stepping in.
- Be aware of ‘diagnostic overshadowing’, symptoms are often attributed to the patient’s disability rather than physical ill health. This is especially true of behavioral and developmental problems.
- When explaining findings and/or a treatment plan, use clear easy to understand language and supplement with pictures, diagrams, etc. where appropriate. Check that the person has understood by getting them to explain in their own words, allowing the person enough time to answer.
- Provide patients with appropriate materials to take home with them. Try to use adapted literature that uses visual aids and is in “easy read” format.
- All adults have the right to consent or refuse treatment.
- Ensuring informed consent with someone who has a language disorder can be difficult. It can help to take a team approach, working together with a Speech and Language Therapist and someone who knows the person well. Easy read information can be extreme helpful (the NHS has some resources available)
- The person who has Down syndrome has the right to understand what is being proposed, and what the consequences of treatment (or no treatment) are. Taking time and space to ensure that information is clearly communicated using visual materials to support is essential.
- The general principles of the HSE’s National Consent Policy 2014 outline the duty on health and social care professionals to maximise capacity through supported decision-making.
Books without Words Series: https://booksbeyondwords.co.uk
The Guide to Good Health for Teens and Adults with Down syndrome by Brian Chicoine M.D. & Dennis McGuire, Ph.D.; Woodbine House (2010)
Down syndrome & dental care resource guide
Here is a link to a Down syndrome & dental care resource guide which a US-based dental practice has shared with us. It’s an excellent resource, full of information and tips for both patients, caregivers and dentists.
- Contact us
‘…more than medical’
“…more than medical” provides an insight into the realities of family life with a baby, child, teenager or adult with Down syndrome in Ireland today. It’s about reality and providing balanced, complete information for new families.
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Information for healthcare professionals
Improving the hospital experience for adults with Down syndrome
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Down syndrome Arthritis Research Findings
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Medical management guidelines
Suggested Schedule of Health Checks
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Medical management guidelines for children and adolescents with Down syndrome with updates – 2009 and 2015
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Insights on aging in people with Down syndrome
As the life expectancy for people with Down syndrome continues to increase, Trinity College’s Professor Mary McCarron presented the latest insights on aging in people with Down syndrome at our 2018 AGM.