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Research

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.

Research

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia

To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.

Research

Fetal alcohol spectrum disorder and Aboriginal and Torres Strait Islander men: A discussion to be had

Fetal alcohol spectrum disorder (FASD) is a lifelong disability of varying severity that occurs among individuals prenatally exposed to alcohol. Among Aboriginal and Torres Strait Islander (Indigenous) Australians, the effects of colonisation and ongoing racism could increase the risk of alcohol consumption during pregnancy.

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Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.

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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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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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Relationship between family quality of life and day occupations of young people with Down syndrome

This study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.

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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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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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome