A collaborative study between The University of Western Australia, Perth Children's Hospital, The Kids Research Institute Australia and advocacy and support group Down Syndrome WA, has identified the top priorities, according to patients and carers, for clinical care and research for children with the genetic condition.
Published in Archives of Childhood Disease and released just in time for World Down Syndrome Day on Friday 21 March, the research highlights the importance of patient and family voices in determining healthcare priorities.
The study gathered input from 215 patients and carers, as well as 191 clinicians, through online surveys and an in-person consensus meeting to identify the top 10 priorities for clinical care and research from an initial 565 ideas.
Lead author Professor Britta Regli-von Ungern-Sternberg, Chair of Paediatric Anaesthesia and Director of the Institute for Paediatric Perioperative Excellence at UWA and PCH, said the highest-ranked priority was to develop a gold standard model of care including screening health checks across all levels of care.
"The second was around improving sleep quality, addressing issues such as obstructive sleep apnoea, snoring, breathing problems and circadian rhythm," Professor Regli-von Ungern-Sternberg said. She also co-leads the Perioperative Care Program and Perioperative Medicine Team at The Kids Research Institute Australia.
Image: Patricia Macchiaverni, whose four-year-old daughter Lara has Down Syndrome, participated in the study.
"Others included investigating acute care problems such as sepsis infections in children with Down Syndrome, along with improving respiratory health and management of chronic lung disease, rhinitis and sinusitis and increasing the safety of anaesthesia in patients with this condition."
The research revealed significant differences between priorities identified by families versus clinicians, with families frequently mentioning the need for more training for medical staff, while clinicians focused more on specific clinical issues such as airway management.
Medical Co-Director of the Medicine Division at PCH, Dr Ellen Taylor, said the study had given patients and carers the opportunity to determine a priority list for clinical care and research for children with Down Syndrome.
"With an estimated 13,500 Australians living with the genetic condition, 36 per cent who are under the age of 20, the study supports a more coordinated approach to Down Syndrome care and research that places children at the centre rather than focusing solely on their diagnosis," Dr Taylor said.
"Partnering with patients and carers strengthens clinical care and advocacy for children with Down Syndrome."
Associate Professor Helen Wilcox, a general practitioner and Dean and Head of the Medical School at UWA said the findings emphasised the need for integrated care models that maintain continuity from childhood to adulthood, involving primary care practitioners alongside specialists to provide comprehensive support for individuals throughout their lives.
"The top 10 patient and carer priorities for research for children with Down Syndrome can also be used in setting strategy for research moving forwards," Associate Professor Wilcox said.
Image: Researchers (left to right) Dr Ellen Taylor, Dr Patricia Macchiaverni, Dr Aine Somerfield and Professor Britta Regi-Von Ungern Sternberg were all involved in the study.
