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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

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

The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distress

The measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability.

Research

Folate pathway gene polymorphisms and risk of childhood brain tumors: Results from an Australian case-control study

Recent research suggests that maternal folic acid supplementation is associated with a reduced risk of childhood brain tumors (CBT); polymorphisms in folate...

Research

Seasonal trivalent influenza vaccination during pregnancy and the incidence of stillbirth: Population-based retrospective cohort study

Although antenatal influenza vaccination is an important public health intervention for preventing serious infection in pregnant women and newborns, reported...

Research

Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.

Research

Effect of Maternal Influenza Vaccination on Hospitalization for Respiratory Infections in Newborns: A Retrospective Cohort Study

Maternal influenza vaccination was associated with a reduction in the incidence of hospital admission for acute respiratory illness among infants <6 months old

Research

Population-based prevalence of intellectual disability and autism spectrum disorders in Western Australia

The prevalence of intellectual disability has risen in WA over the last 10 years with most of this increase due to mild or moderate intellectual disability

Research

Low positive predictive value of International Classification of Diseases, 10th Revision codes in relation to rheumatic heart disease: a challenge for global surveillance

We outline a series of research initiatives to improve identification of RHD in administrative data thereby contributing to monitoring the RHD burden globally