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Research

Oral health experiences of individuals with Rett syndrome: A retrospective study

Social advantage may provide some protection for dental health in individuals with Rett syndrome

Research

Intraoperative neurophysiology monitoring in scoliosis surgery in children

Our study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children

Research

Birth seasonality and risk of autism spectrum disorder

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden

Research

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals

Research

Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

We investigated parental observations to identify QOL domains in children with Down Syndrome and determined whether domains differed between children and teens.

Research

Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

Research

Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades

Improved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist

Research

Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western Australia

To investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.

Research

Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome

The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.

Research

Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trial

We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.