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InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

Do children with autism 'switch off' to speech sounds? An investigation using event-related potentials

Autism is a disorder characterized by a core impairment in social behaviour. A prominent component of this social deficit is poor orienting to speech.

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

The recruitment and retention of Speech and Language Therapists: What do university students find important?

The increasing need for speech and language therapy (SLT) services, coupled with poor employment retention rates, poses serious cost-benefit considerations.

Evidence against poor semantic encoding in individuals with autism

This article tests the hypothesis that individuals with autism poorly encode verbal information to the semantic level of processing, instead paying greater...

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Mothers with intellectual disability and their children in Western Australia

Helen Leonard MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@thekids.org.au Principal Research Fellow Areas of research expertise

Powerful Nunga mums, strong healthy Bibi and families: improving care, coordination, support and knowledge of women who experience cardiometabolic complications in pregnancy

The Model of Care supports the health of women and their babies with cardiometabolic complications of pregnancy and aids in the prevention and management of cardiometabolic disease in the short and long-term. It was co-designed by Aboriginal women with lived experiences of cardiometabolic complications in pregnancy.

PREDICT CF: Assessing the role of lung clearance index in predicting disease progression in children with cystic fibrosis

There is increasing evidence that the assessment of ventilation distribution using the multiple breath washout (MBW) technique is sensitive to changes in disease status of children with cystic fibrosis.