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The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
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.
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
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.