Down Syndrome
Down syndrome is the most common congenital abnormality in Canada [PHAC, 2015]. Individuals with Down syndrome are mostly seen by general practitioners and paediatricians as their primary caregiver in Canada, but an overview of access to health care is lacking. We conducted a survey to investigate comorbidities and access to health care in a Canadian population of individuals with DS to determine the main unmet needs in this population.
The aim of this project was to develop and pilot the methodology for an observation-based, naturalistic study on disruptive behaviours in individuals with intellectual disability in collaboration with their caregivers, utilizing information typically available in the school setting.
We hypothesize that individuals with Down syndrome may experience familial restless legs syndrome associated symptoms, such as insomnia, in addition to sleep disordered breathing (SDB), which is a well-known contributor to daytime sleepiness and hyperactive-like behaviours.
Sleep is an essential component of cerebral function and cognitive development. Sleep problems start at an early age in individuals with Down syndrome, who experience severe developmental delays. Interrelations of primary and secondary causes of developmental delays have not yet been elucitated. We hypothesize that sleep problems may impact development, in particular, language development.
Down syndrome is an exemplary and prototypical condition to teach inter- and transdisciplinary aspects of medicine. The TELF Project Team has reviewed Down syndrome as the most frequent genetic cause of intellectual disability presenting with multi-organ involvement, premature aging and neurodegeneration. In this project, students developed teaching materials based on literature reviews, case vignettes, surveys and interviews.
Project Leads: Sylvia Stockler, Linlea Armstrong & Osman Ipsiroglu (all BCCH, UBC)
Co-Leads: Linlea Armstrong & John Jacob (BC Children’s Hospital, Vancouver, BC), Susan Fawcett, Dawn McKenna & Pat Hanbury (Down Syndrome Research Foundation, Burnaby, BC), Dr. George T. Capone, Director, Down Syndrome Clinic, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, USA
Project Partners: Dr. George Capone, Down Syndrome Program (Kennedy Krieger Institute, Johns Hopkins University, Baltimore, USA; BC Paediatric Society
Research Assistants: Maria Bleier, Mai Berger, Mackenzie Campbell, Alexandra Wagner, Nadia Beyzaei, Emmanuel Tse, Melvin Chan, Arshdeep Marwaha