Search the site

A prevalence study on parents with intellectual disability and their children

Melissa Helen O'Donnell Leonard BPsych (Hons), MPsych, GradDip Ed, PhD MBChB MPH Honorary Research Associate Principal Research Fellow +61 419 956

It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndrome

The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality.

The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

Physical and mental health of mothers caring for a child with Rett syndrome

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Michael English

Senior Research Officer

Associate Professor Yasmin Harman-Smith

Head, Early Years Systems Evidence; Head, Tenders Support Unit

Dr Sarah Hall

Honorary Research Associate

Maternal life events during pregnancy and offspring language ability in middle childhood

There is accumulating evidence for a link between maternal stress during pregnancy and later behavioural and emotional problems in children.

Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.

Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status

The Rett Syndrome Behaviour Questionnaire (RSBQ) describes behavioural and emotional features. This study investigated total RSBQ score trajectories and their clustering, and for trajectory groups, relationships with genotype and mobility, weight-for-age z scores, and seizure frequency.