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Head, Child Disability Health and Wellbeing

BApplSci (physio) MSc PhD

Areas of research expertise: Child disability; Rett syndrome; MECP2-related disorders; Duchenne muscular dystrophy; CDKL5; Prader-Willi syndrome; rare disorders; functional abilities; comorbidities; early development; comprehensive outcomes frameworks; quality of life

Dr Jenny Downs has worked at the Telethon Kids Institute since 2005 and has a clinical background in paediatric physiotherapy. She works towards improving our understanding about childhood disability and outcomes for affected children and their families.

Her current research program is in child disability with a focus on rare disorders. These include Rett syndrome, the CDKL5 disorder, MECP2 Duplication syndrome and Prader-Willi syndrome, as well as Duchenne muscular dystrophy and Early Onset Scoliosis. There is typically little knowledge about the trajectory of rare disorders and how clinical issues should best be managed. Jenny has used cohort, observational and qualitative study designs to progress these research fields and her expertise in these rare disorders is being recognised internationally.

Jenny is particularly interested in comprehensive outcomes research for children and their families. She uses database methodologies for data collection, works with consumers to develop meaningful research programs and aims for the translation of research findings into clinical practice. Her current NHMRC funded studies illustrate these interests. One study is developing a quality of life measure for children with intellectual disability and the other is investigating comprehensive outcomes following gastrostomy for children with moderate to severe intellectual disability. She has played a lead role in developing outcome measures for gross motor and hand function in Rett syndrome. More generally, she is interested in gross motor development and physical activity over childhood.

Jenny represents the Telethon Kids Institute on the PCH Ethics Committee and is a Board member of Kalparrin, an organisation providing support to families with a child with a disability.

Jenny co-leads the Think Big Neurodevelopmental Disorders at the Telethon Kids Institute, together with Dr Amy Finlay-Jones. This program focuses on understanding neurodevelopmental risk and resilience in the first years of life and optimising developmental and mental health outcomes across the lifespan.” To develop this innovative and ambitious research program, Jenny and Amy are working with researchers from Telethon Kids’ Disability, FASD and Autism teams and collaborators to establish “ASCEND”: AuStralian Collaboration to Enhance Neuro-Development.