Direttore Centre for Child Health Research, University of Western Australia
AUSTRALIA
Specializzazione in Epidemiologia.
Professiore Associato presso Telethon Kids Institute Research di Perth, in Australia conduce progetto di ricerca sulla Sindrome di Rett. L’obiettivo è quello di sviluppare linee guida di gestione clinica per sostenere la cura clinica.
PUBBLICAZIONI SELEZIONATE:
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.
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.