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Research

Autism risk associated with parental age and with increasing difference in age between the parents

Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age

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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

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CDKL5 variants: Improving our understanding of a rare neurologic disorder

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

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Hospital admissions in children with developmental disabilities from ethnic minority backgrounds

Children with CP and intellectual disability, particularly from minority backgrounds, were at higher risk of being admitted to hospital after the first year of life

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A comparison of autism prevalence trends in Denmark and Western Australia

Prevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods...

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The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based study

It is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...

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The use of cross-jurisdictional population data to investigate health indicators of child maltreatment

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children

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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

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Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

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The impact of having a sibling with an intellectual disability:parental perspectives in two disorders

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.