Search
Research
Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database studyOur 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.
Research
Building the repertoire of measures of walking in Rett syndromeThis study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.
Research
Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic ReviewTo investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users.
Research
The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
Research
Caring for a child with severe intellectual disability in China: The example of Rett syndromeIntellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support...
Research
Application of Population-Based Linked Data to the Study of Intellectual Disability and AutismData linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.
Research
Relationship between family quality of life and day occupations of young people with Down syndromeThis study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
Research
Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked dataThe 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
Early development and regression in Rett syndromeOur findings provide additional insight into the early clinical profile of Rett syndrome.
Research
Functioning and post-school transition outcomes for young people with Down syndromeOur analysis shows that functioning in activities of daily living was related to post-school day occupation. Current health status and behaviour were found...