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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

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

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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Investigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder

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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.

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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.

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EEG power at 3 months in infants at high familial risk for autism

Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.

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Perspectives on hand function in girls and women with Rett syndrome

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.

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Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.

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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...

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Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.