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Research

Association of Genetic and Environmental Factors with Autism in a 5-Country Cohort

Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%

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

Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiences

Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...

Research

Family satisfaction following spinal fusion in Rett syndrome

Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...

Research

Health conditions and their impact among adolescents and young adults with down syndrome

The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...

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

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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

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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