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Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.

Bone mass and density are low in females with Rett syndrome.

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

This study aimed to describe overall survival and adult health in those with Rett syndrome.