Rate My Professor Jennepher Downs

Downs specializes in research on rare neurodevelopmental disorders including Rett syndrome, CDKL5 deficiency disorder, MECP2 duplication syndrome, and Prader-Willi syndrome, alongside common conditions such as Down syndrome, autism, and cerebral palsy. She has developed key outcome measures, including the Quality of Life Inventory-Disability (QI-Disability) for children with intellectual disability and functional ability assessments for those with severe disabilities. Her contributions extend to clinical trials evaluating early interventions and physical activity strategies in Rett syndrome, as well as investigations into comorbidities, quality of life determinants, sleep patterns, fracture risks, and scoliosis progression. Notable publications include "Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies" (2026, Quality of Life Research), "Functional skills in MECP2 duplication syndrome: developmental dynamics and regression" (2026, Orphanet Journal of Rare Diseases), "Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome" (2026), "Development and initial validation of the Communication Inventory Disability – Observer Reported (CID-OR)" (2026, Journal of Patient-Reported Outcomes), and "Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome" (2017). She participates in the Perth Children's Hospital Ethics Committee and serves on the board of Kalparrin, an organization aiding families of children with disabilities. Awards received include the New Independent Researcher Infrastructure Award from the Western Australian Department of Health and the Heath Ledger Career Development Award from The Kids Research Institute Australia.