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Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
Siblings of children with intellectual disability have unique family experiences, varying by type of disability.
Eye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities
Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
Prevalence and determinants of sleep problems in Rett syndrome
This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework
Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
We evaluated family satisfaction following spinal fusion in girls with Rett syndrome