Co-Head, Child Disability
Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett syndrome; CDKL5 disorder; MECP2 Duplication syndrome; rare diseases; pre-term
Helen has qualifications in medicine and public health. She is a Principal Research Fellow at the Institute, Associate Professor at The University of Western Australia and has been awarded a second NHMRC Senior Research Fellowship.
For twenty years her clinical practice primarily involved the management of children and adults with intellectual disability. Working in this role she saw the major need for epidemiological, clinical and multidisciplinary research in this area. Consequently, she established a population-based intellectual disability database in Western Australia, which, with its linkage to other WA population-based databases, is providing extremely valuable ongoing research output. She is also a member of an exciting and innovative autism registry collaboration, which was established with funding from the NIH as a “virtual and global” Autism Centre of Excellence and which has the infrastructure to undertake pooled analyses of international data comprising over 2.5 million births and nearly 34,000 cases of autism.
In 1992 she set up the internationally unique population-based Australian Rett Syndrome Database and has maintained this register since that time. In 2002 she established the International Rett Syndrome Foundation Phenotype Database, InterRett and in 2012 the International CDKL5 Disorder Database.
Helen’s research has mainly centered around child disability but has been broad in scope covering both common and rare conditions and using rigorous epidemiological methods including cohort studies to describe prevalence, incidence, life expectancy and natural history as well as qualitative methods, where applicable, to explore impacts for those affected and their families. She also has an interest in perinatal epidemiology, initially developed because of the association between perinatal factors and the developmental outcomes of the offspring but now expanded to include topics such as preterm birth, stillbirth and interpregnancy intervals, all of which have been investigated using population-based linked data. Her program of research and output remain on an upward trajectory with 286 publications since 1998, including 188 since 2008 and 41 since early 2017. Her articles are well cited (e.g. total citations 6459 with 848 in 2016 (Scopus)) with an h-index of 42.