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The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome

Our vision is to increase awareness and improve outcomes for children with movement disorders and other neurodevelopmental conditions impacting on motor function.

Research

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.

We also wanted to find out whether any particular behaviours were associated with any specific mutation types.

We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.

We wanted to find out whether mothers with a child with Rett syndrome who were more physically and mentally healthy had particular characteristics.

This study evaluated sixty-one families' satisfaction following spinal fusion in girls with Rett syndrome.

Research

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.

Research

This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.