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Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

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.

Evaluation Tools Developed for Rett Syndrome

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.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort study

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.

Parental perspectives on the communication abilities of their daughters with Rett syndrome

Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

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

Experience of gastrostomy using a quality care framework: The example of rett syndrome

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

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

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

CAGE-defined promoter regions of the genes implicated in Rett Syndrome

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

The trajectories of sleep disturbances 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...

Parental perspectives on the communication abilities of their daughters with Rett syndrome

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