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Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.

Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

Rare childhood diseases: how should we respond?

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Community-led healthy skin materials on track to curb Strep A

Healthy skin is a vital factor in the fight against life-threatening conditions like sepsis, heart disease and kidney disease, all of which can be caused by the bacteria Strep A.

Fighting lung disease

Culturally secure intervention to facilitate medical follow up for Aboriginal children, after being hospitalised with chest infections, have proven to improve long-term lung health outcomes.

Improving Outcome Reporting in Paediatric Airway Management in Clinical Trials (IMPACT): A Study Protocol for Core Outcomes and Clinical Endpoints

Although clinical trials are fundamental to advancing evidence-based practice, significant heterogeneity in outcome reporting poses a considerable challenge to the validity of systematic reviews. This inconsistency impedes the ability to compare, synthesise and interpret research findings effectively. In the field of paediatric airway management, this issue is particularly relevant because of the low incidence of critical events and the related high morbidity and mortality. The issue of inadequate and variable outcome reporting in clinical trials has been widely acknowledged, necessitating initiatives to enhance the quality of future research.