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The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.
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...
Our findings provide additional insight into the early clinical profile of Rett syndrome.
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.
Siblings of children with intellectual disability have unique family experiences, varying by type of disability.
Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
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.