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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.
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.
To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.