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Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNAAneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.
Research
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research SocietyResearch focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.
Research
Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia modelAcute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.
Research
Australian children living with rare diseases: health service use and barriers to accessing careChildren with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.
Research
The neglect of a child with intellectual disability as reported in Australian news media: A Foucauldian discourse analysisPeople with intellectual disability experience a high risk of being neglected and family members are often identified as the perpetrators. Analysing the media provides insight into public narratives about social problems. A search of Australian newspapers published between 2016 and 2021 identified 27 articles that predominately reported on a single case of familial neglect of an individual with intellectual disability.
Research
A qualitative exploration of motivations and barriers for community leisure organisations’ engagement with the Jooay™ mobile appParticipation in leisure activities is key to the physical and mental health of children and adolescents with disabilities. The Jooay™ mobile app aims to link children and adolescents with disability to participation opportunities in their community.
News & Events
The Kids researchers honoured at Public Health Association AwardsTwo The Kids researchers working to improve the health & wellbeing of Aboriginal children & their families have both been honoured at the PHAA Awards.
News & Events
Participation key to quality of life for kids with disabilityThe Kids Research Institute Australia researchers have called for a greater focus on creating opportunities for children with disability to participate in the community, after finding a clear link between participation and better quality of life.
Research
Efficacy of DYRK1A inhibitors in novel models of Down syndrome acute lymphoblastic leukemiaDespite significant advances, outcomes for children with Down syndrome (DS, trisomy 21) who develop acute lymphoblastic leukemia remain poor. Reports of large DS-ALL cohorts have shown that children with DS have inferior event-free survival and overall survival compared to children without DS.
Research
Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disabilityInvolvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.