Dr Jenny Downs

Dr Jenny Downs

BApplSci (physio), MSc, PhD
Senior Research Officer


Areas of research expertise: Rett syndrome; Functional abilities; Scoliosis; Early development; Comprehensive outcomes; Rare disorders


Jenny has worked at the Telethon Kids Institute since 2005 with a previous clinical background in paediatric physiotherapy. Her current research program is in intellectual disability with a focus on Rett syndrome and she has used cohort, observational and qualitative study designs. Other research interests include the CDKL5 disorder, Duchenne Muscular Dystrophy and Early Onset Scoliosis, and early development during infancy.


Jenny is particularly interested in comprehensive outcomes research for children and their families, the translation of research findings into clinical practice, and working with consumers to develop meaningful research programs.


Jenny represents the Population Sciences Division of the Telethon Kids Institute on the PMH Ethics Committee.


Research Publications


Bebbington A, Downs J, Percy A, Pineda M, Ben Zeev B, Bahai-Buisson N, Leonard H (in press). The phenotype associated with a large deletion on MECP2. European Journal of Human Genetics.

Downs J, Leonard H, Hill K (2011). Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome. Disability and Rehabilitation, Nov 22 [Epub ahead of print].

Knott M, Leonard H, Downs J (2011). The diagnostic odyssey to Rett syndrome: The experience of an Australian family, American Journal of Medical Genetics Part A. Dec 6. doi: 10.1002/ajmg.a.34372. [Epub ahead of print]

Lim FJ, Downs J, Li J, Bao X-H, Leonard H (2011). Barriers to diagnosis of a rare neurological disorder in China - lived experiences of families affected by Rett syndrome. American Journal of Medical Genetics Part A, Nov 21. doi: 10.1002/ajmg.a.34351. [Epub ahead of print].

Lotan M, Schenker R, Wine J, Downs J (2012).  The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study Developmental NeuroRehabilitation. 15(1): 19-25.

Foley K-R, Downs J, Bebbington A, Jacoby P, Girdler S, Kaufmann WE, Leonard H (2011). Longitudinal video analysis of gross motor function of girls and women with Rett syndrome, Journal of Child Neurology, 26(10):1237-45.

Fehr S, Bebbington A, Nassar N, Downs J, de Klerk N, Ronan G, Leonard H (2011). Changes in incidence and prevalence of Rett syndrome in Australia, Pediatric Research, 70(3):313-9.

Fehr S, Bebbington A, Ellaway C, Rowe P, Leonard H, Downs J (2011). Altered attainment of developmental milestones influences the age of diagnosis of Rett syndrome, Journal of Child Neurology, 26(8):980-7.

Urbanowicz A, Downs J, Bebbington A, Jacoby P, Girdler S, Leonard H (2011). Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome, Research in Autism Spectrum Disorders, 5(2): 722-732.

Downs J, Bebbington A, Kaufmann WE, Leonard H (2010). Longitudinal hand function in Rett syndrome, Journal of Child Neurology, 26(3):334-40.

Fehr S, Downs J, Bebbington A, Leonard H (2010). Atypical presentations and specific genotypes in Rett syndrome are associated with a delay in diagnosis, American Journal of Medical Genetics Part A, 152A(10):2535-2542.

Downs J, Bebbington A, Jacoby P, Williams A, Ghosh S, Kaufmann WE, Leonard H (2010). The level of purposeful hand function is a marker for clinical severity in Rett syndrome, Developmental Medicine and Child Neurology, 2010;52(9):817-823.

Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H (2010). Valproate and risk of fracture in Rett syndrome, Archives of Disease in Childhood, 95(6):444-448.

Downs J, Geranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H (2010). Linking MECP2 and pain sensitivity: the example of Rett syndrome, American Journal of Medical Genetics Part A, 152A(5):1197-1207.

Carter P, Downs J, Bebbington A, Jacoby P, Williams S, Kaufmann WE, Leonard H, (2009).  Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database, Movement Disorders, 25(3):282-288.

Downs J , Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson E, Smith BG, Baikie G, Fyfe S, Leonard H (2009). Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence, Spine, Aug 1;34(17):E607-17.

Ager S, Downs J, Fyfe S, Leonard H (2009). Parental experiences of scoliosis management in Rett syndrome, Disability and Rehabilitation, 31(23):1917-1924.

Downs J, Young D, de Klerk N, Bebbington A, Baikie G, Leonard H (2009). The impact of scoliosis surgery on activities of daily living in females with Rett syndrome, Journal of Pediatric Orthopaedics, 29(4), 369-374. 

Downs J, Bebbington A, Jacoby P, Msall M, McIlroy O, Fyfe S, Bahi-Buisson N, Kaufmann W, Leonard H (2008). Gross motor profile in Rett syndrome as determined by video analysis, Neuropediatrics, 39(4), 205-210. 

Vanlint S, Nugent M, Durvasula S Downs J, Leonard H (2008). A guide for the assessment and management of vitamin D status in people with intellectual disability (developed as an AADDM Working Party initiative). Journal of Intellectual and Developmental Disability, 33(2), 184-188. 

Vanlint S, Nugent M, Durvasula S, Downs J, Leonard H (2008). Vitamin D and people with intellectual disability, Australian Family Physician, 37(5), 348-350.

Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H (2008). Early determinants of fractures in Rett syndrome, Pediatrics, 121(3), 540-546. 

Fyfe S, Downs J, McIlroy O, Burford B, Lister J, Reilly S, Lauvrick C, Philippe C, Msall M, Kaufmann W, Ellaway C, Leonard H (2007).


Development of a video-based evaluation tool in Rett syndrome, Journal of Autism and Developmental Disorders, 37(9), 1636-1646.

Downs J, Roberts C, Blackmore A, Le Souëf P, Jenkins S (2006). Benefits of an education program on the self-management of aerosol and airway clearance treatments for children with cystic fibrosis, Chronic Respiratory Disease, 3(1), 19-27.

Downs J, Stocks J (1995). The effect of neck rotation on the timing and pattern of infant tidal breathing, Pediatric Pulmonology, 20, 380-386.

Downs J, Edwards A, McCormick D, Roth S, Stewart A (1991). Effect of intervention on development of hip posture in very preterm babies, Archives of Disease in Childhood, 66, 797-801. 

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