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Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

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...

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...

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.

The change-makers: how a group of Aboriginal Elders is fighting for housing equity

A child can’t thrive if they don’t have a roof over their head.

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

Professor Terrance Johns

Honorary Research Associate

Performance of published scoring tools for predicting the risk of perioperative respiratory adverse events in children - An evaluation in a large paediatric cohort

Perioperative respiratory adverse events (PRAE) are a main cause of morbidity and mortality in paediatric anaesthesia. Clinicians need to be able to predict their patients' risk of PRAE to plan their care. Clinical risk prediction tools have been developed to assist with pre-operative risk stratification; however, validation outside the contexts of their development is limited. In this study, we test the ability of common risk prediction tools to identify patients at high risk of PRAE in general anaesthesia.