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Research

Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked data

The aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five...

Research

To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of Wellbeing

The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.

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Functioning and post-school transition outcomes for young people with Down syndrome

Our analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...

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Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset Scoliosis

The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis.

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Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.

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The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

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Early development and regression in Rett syndrome

Our findings provide additional insight into the early clinical profile of Rett syndrome.

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Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

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Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

The diagnosis of autism in a female: could it be Rett syndrome?

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...