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Showing results for "Neuromuscular disorders "
Honorary Research Associate
This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
People with intellectual disability fall at a younger age compared with the broader community
Synthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age
This study describes how an informed consent process was developed for people with intellectual disability and how it is working in a current study
There is no published information on preterm children's activities and participation during middle childhood, a time when growth and development are characterised by increasing motor, reasoning, self-regulation, social and executive functioning skills. This study explored the health, activities and participation of children born very preterm during middle childhood (6-9 years) from the perspectives of their parents.
Septo-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
Children with complex needs and severe disability may undergo gastrostomy insertion to support feeding difficulties. Parent education programs are critical components of clinical care pathways but there is little information on parent-reported educational needs. This study describes the collaborative process that yielded a resource to assist parents considering gastrostomy tube placement for their children, and the evaluation of the resource.
In children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities. This was a prospective longitudinal study conducted at the Danish National Center for Rett Syndrome 2008 to 2022. The Rett Syndrome Gross Motor Scale (RSGMS) was administered, and clinical data collected at each visit.
This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.