Leonard Helen Margaret

AUSTRALIA

Epidemiology, Public Health University of Western Australia Perth, Western Australia.

Centre for Child Health Research, University of Western Australia, Faculty of the Telethon Institute for Child Health Research.
The combination of more than 30 years experience as a medical practitioner (20 of which were dedicated to the health care needs of people with intellectual disability) and more than 16 years as a public health researcher (specialising in intellectual disability) underlies a strong commitment to ensuring that research findings translate into better outcomes across multiple lifestyle domains for people with intellectual disability and their families.

Main focus of research:
– Epidemiology of intellectual disability and associated syndromes (particularly Down syndrome and Rett syndrome) to better understand incidence, patterns, risk and protective factors
– Management and treatment of health conditions associated with intellectual disability (particularly conditions associated with Down syndrome and Rett syndrome) to inform individual and family decision-making and improved clinical practice
– Measurement of quality of life issues for people with intellectual disability and their families to better inform policy and practice responses
– Improved understanding of influences and issues across the life-course, including during the pre and peri-natal period and during important developmental milestones and transitions

PUBLICATIONS:
A validation study of a modified Bouchard activity record that extends the concept of ‘uptime’ to Rett syndrome.

Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome.

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

Downs J, Leonard H, Hill K. Initial assessment of the StepWatch Activity Monitor to measure walking activity in Rett syndrome. Disability and Rehabilitation 2011.

Knott M, Leonard H, Downs J. The diagnostic odyssey to Rett syndrome: The experience of an Australian family. American Journal of Medical Genetics A 2011.

Lim F, Downs J, Li J, Bao XH, Leonard H. Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families. American Journal of Medical Genetics A 2011.

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M and others. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? Clinical Genetics 2011.