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Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe. 

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.

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

Our findings provide additional insight into the early clinical profile of Rett syndrome.

Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

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

There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.