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Showing results for "Neuromuscular disorders "

Recording a history of alcohol use in pregnancy: an audit of knowledge, attitudes and practice at a child development service

To assess the effectiveness of alcohol documentation and to measure the practice of health practitioners in relation to asking about alcohol and pregnancy.

Telethon Institute a key player in new national autism research

The Telethon Institute will play a key role in a ground breaking, multi-million dollar Autism research centre announced by Prime Minister Julia Gillard.

Researchers tackle big issues in child development

Perth's The Kids for Child Health Research has been awarded a major national grant to continue ground-breaking work on child health and development.

Senior Research Officer Child Disability Rare Diseases Program

Senior Research Officer to oversee our rare disease program in association with other team members.

The impact for DCD – USA study: The current state of Developmental Coordination Disorder (DCD) in the United States of America

Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. The aim of this study was to present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey.

Language and reading impairments are associated with increased prevalence of non-right-handedness

Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies.

The role of exome sequencing in childhood interstitial or diffuse lung disease

Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality.

Genomic characterization of clinically significant blood group variants in Aboriginal Australians

Hematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anemia.