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Research

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.

Research

Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...

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Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birth

The objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...

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Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

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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...

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NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

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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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Effect of sitting posture on development of scoliosis in duchenne muscular dystrophy cases

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.

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Community participation: Conversations with parent-Carers of young women with Rett syndrome

In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...

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Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience...