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

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

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...

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...

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.

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.

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...

Predictors of scoliosis in Rett syndrome

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

Effect of maternal prebiotic supplementation on human milk immunological composition: Insights from the SYMBA study

Immunomodulatory proteins in human milk (HM) can shape infant immune development. However, strategies to modulate their levels are currently unknown. This study investigated whether maternal prebiotic supplementation alters the levels of immunomodulatory proteins in HM. 

Rural Exposure and Future Intent of Australian Dermatology Trainees

Citation: Yap M, Weston S, McKinnon E, Sadler G. Rural Exposure and Future Intent of Australian Dermatology Trainees. Australas J Dermatol. 2025.

The CoolCot trial: active methods of therapeutic hypothermia for newborns with hypoxic ischaemic encephalopathy during neonatal transport: a study protocol for a randomised controlled trial

Impaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.