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The Sibling Snapshot Project

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Research

Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research

THINK BIG - Neurodevelopmental Disorders

Amy Andrew Helen Jenny Martyn Melissa Videos Finlay-Jones Whitehouse Watch and listen to Andrew Leonard Downs Symons Licari BPsych(Hons), MPsych(

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome

Research

Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorder

Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.

Research

“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndrome

The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...

Research

Assessment and management of nutrition and growth in rett syndrome

We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...

Research

Using a large international sample to investigate epilepsy in Rett syndrome

The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.

Research

Neonatal complications in public and private patients: A retrospective cohort study

Despite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.