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To investigate how caregivers of children with developmental and epileptic encephalopathy and severe developmental impairments describe meaningful change for functional domains and why it is important.
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.
No validated oral health-related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non-verbally. This qualitative study aimed to explore the domains that were important to the oral health-related quality of life in individuals with Rett syndrome.
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.
Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...
Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...