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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.
While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.
Our vision is to increase awareness and improve outcomes for children with movement disorders and other neurodevelopmental conditions impacting on motor function.
We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.
The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause.
Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.