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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.

Parental experiences of scoliosis management in Rett syndrome

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

The effectiveness of a Consumer Centred Tobacco Management (CCTM) approach in enabling mental health consumers to reduce or quit smoking

The aim of this pilot study is to test if the CCTM approach is more effective than business as usual methods at supporting mental health consumers to reduce their tobacco dependence or quit smoking altogether.

Wal-yan respiratory researchers head to Milan to participate in international congress

The Wal-yan Respiratory Research Centre is proud to have a team of researchers taking part in, and contributing to, the outstanding scientific programme of the European Respiratory Society International Congress, taking place in Milan.

The continuity and duration of depression and its relationship to non-suicidal self-harm and suicidal ideation and behavior in adolescents 12–17

Overlap between non-suicidal self-harm and suicidal ideation and behavior in young people with both symptom continuity and symptom duration implicated in this association

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Developing sensitive endpoints for respiratory disease progression in children with neuromuscular disease

We hope that through earlier diagnosis and treatment of muscle weakness during sleep, we can prevent future lung failure in children with neuromuscular disorders.