Today, on World Down Syndrome Day, we celebrate the lives, achievements, and invaluable contributions of people with Down syndrome (DS).
Why March 21? The date symbolises the genetic uniqueness of the condition, as individuals with DS have three copies of the 21st chromosome. More than just a day of awareness, it is a powerful call to embrace inclusion, champion advocacy, and ensure equal opportunities for all.
At The Kids Research Institute Australia, we are committed to supporting children with DS and their families through innovative research and meaningful programs. In recognition of this important day, we are shining a light on some of the projects our researchers are undertaking to empower children with DS and provide valuable support to their parents and caregivers.
Pioneering new treatments for leukaemia in children with Down syndrome
Did you know that children with DS face a 20 times higher risk of developing leukaemia due to their extra copy of chromosome 21 (trisomy 21)?
Those diagnosed with B-cell leukaemia (named DS-ALL), the most common type of childhood blood cancer, often struggle with standard treatments, leading to high relapse rates and severe side effects. They need therapies that are both effective and gentle, to ultimately improve outcomes for children with DS who also suffers from many other health issues.
To address this, a global research centre uniting 13 experts across five countries is working to develop targeted treatments with fewer side effects. Their research spans four key projects: understanding why children with DS develop a pre-leukaemia condition, tackling chemotherapy resistance, testing new therapy combinations, and investigating the link between trisomy 21 and the CRLF2 gene, which is mutated in more than 50 per cent of DS-ALL cases.
Dr Sébastien Malinge from the WA Kids Cancer Centre leads the CRLF2 study, aiming to uncover new treatment targets. His team is using advanced technology, including gene editing and drug screening, and applying them in the unique DS-ALL models developed here at the institute, to explore how CRLF2 interacts with trisomy 21. Their findings could lead to groundbreaking therapies and future clinical trials, offering hope for safer, more effective treatments for children with DS-ALL.
Shaping research priorities for children with Down syndrome
Professor Britta Regli-von Ungern-Sternberg, Program lead Perioperative Care at The Kids, has partnered with other clinicians from Perth Children’s Hospital, including Dr Ellen Taylor, who leads the dedicated DS Clinic.
Working with consumers, they recently identified the top ten research priorities for children with DS, ensuring patient and carer voices shape future clinical care.
Using a structured process, the team gathered 339 research ideas from 117 carers and 89 clinicians through surveys and a consensus meeting. These were refined into 20 key themes before the final top 10 priorities were determined.
The top two priorities were:
- Establishing a gold standard model of care, including routine health screenings.
- Improving sleep quality, addressing issues like sleep apnoea and breathing difficulties.
This study – which was recently published in the Archives of Childhood Disease – will empower families by placing their concerns at the heart of medical research, paving the way for better care and outcomes.
Trio of Child Disability Team Initiatives driving positive change for children with Down Syndrome
Our Child Disability Team, led by Professor Jenny Downs, recently completed a Quality of Life Inventory project including children with DS and is currently working on two additional projects also involving children with DS and their families.
Quality of Life Inventory (QI-Disability)
The Quality of Life Inventory-Disability (QI-Disability) is a parent reported outcome assessment of quality of life for children and adolescents with intellectual disability. It is suitable to use for children and adolescents aged 3 to 18 years and with adults who live with disability conditions.
There are 32 items in six domains, including Physical Health, Positive Emotions, Negative Emotions, Social Interactions, Leisure and the Outdoors, and Independence.
All items are presented in plain language. Their development was based on “think aloud” interviews with parents. Parents rated each item on a five-point Likert scale to indicate the frequency they have observed the behaviour in the child.
QI-Disability has been translated into multiple European and Asian languages, including Spanish, French, Italian, Danish, Japanese and simplified Chinese.
“Children with DS were a critical part of our original validation and development group,” Professor Downs said.
“They have contributed to this measure, which is being used all over the world in every continent by clinicians, in private practice and hospitals, and in the medical records systems in two major children’s hospitals in the US. It’s also being used by researchers, including in industry-sponsored rare disease trials.”
Empowering kids to make health care decisions
Dr Jess Keeley is playing a pivotal role in an ongoing project designed to empower children to make healthcare decisions.
To date, 55 families – including children with DS – have been interviewed for the study. Using data gathered from the interviews, the Child Disability team is co-designing training modules and resources to help children build autonomy in managing their healthcare, while also equipping parents with the tools to support them.
“We are developing a ladder of steps for children to develop their autonomy, factoring in different places where a child may or may not have responsibility,” Dr Keeley said.
“Parents will be equipped with the knowledge and skills to take their children to the appropriate level. There will be different ladders for healthy eating, healthy exercise, everyday healthcare activities and more.”
Professor Downs said the team was excited to develop a three-dimensional program that helped children learn and develop lifelong health management skills.
HEALTHCARE-SAVVI Parents Project
The Child Disability Team is conducting a project, led by Dr Thom Nevill, to better understand how parents, including those of children with DS, navigate and make sense of healthcare information.
Through in-depth interviews with 23 parents and approximately 15 children, the team is exploring how families manage their health information, access resources, and make informed decisions about care.
“This research is identifying challenges and opportunities for improving support systems, ensuring that needed information is presented in a way that is clear, accessible, and empowering. Data will form the platform for a program to support parents being more ‘HEALTHCARE-SAVVI’,” Dr Nevill said.