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Research

The reliability of a food frequency questionnaire for use among adolescents

Accurate measurement of dietary intake is essential for understanding the long-term effects of adolescent diet on chronic disease risk.

Research

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).

Research

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

Research

Physical and mental health in mothers of children with Down syndrome.

Physical and mental health in mothers of children with Down syndrome.

Research

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...

Research

Infection is the major component of the disease burden in Aboriginal and non-Aboriginal Australian children: a population-based study

Infection accounts for the majority of pediatric mortality and morbidity in developing countries, but there are limited data on the infectious diseases...

Research

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.

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Interpretation of recent sudden infant death syndrome rates in Western Australia

Data for recent years show a shift away from a classification of 'SIDS' towards a classification of 'unascertainable', particularly for Aboriginal infants.

Research

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Research

Predictors of scoliosis in Rett syndrome

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.