Psychological aspects of being a parent of an individual with Rett syndrome: A scoping review.

Background: Rett syndrome (RTT) causes multiple disabilities with a lifelong need for substantial care, placing a tremendous lifelong responsibility on the parents. Parenting an individual with RTT can therefore be challenging. Research on the psychological aspects of parenting individuals with RTT is limited and unclear.

Validation of an accelerometer system for measuring physical activity and sedentary behavior in healthy children and adolescents.

Unlabelled: The study aims to assess the concurrent validity of the SENS motion accelerometer system for device-based measurement of physical activity and sedentary behavior in healthy children and adolescents. Thirty-six healthy children and adolescents (mean ± standard deviation (SD) age, 10.2 ± 2.

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. This opinion paper aims to present up-to date evaluation tools which have specifically been adapted for individuals with RTT often used by the authors in their clinical and research practice and to provide the reader with essential considerations and suggestions regarding their use.

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.

Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial.

Aim: To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome (RTT).

Method: In this multicentre randomized waitlist-controlled trial, we recruited 43 ambulatory individuals with RTT in Australia and Denmark. Adequate baseline data were obtained from 38 participants (mean age 20 years, range 6-41, SD 10 years 6 months, one male).

Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome.

Purpose: People with a disability may spend more time sitting and lying ("downtime") and less time standing and walking ("uptime"). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in "uptime" activities.

Method: An anonymous online survey including open ended questions about the enablers and barriers to "uptime" was administered to parent/caregivers and therapists/health professionals in an international sample.

Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study.

Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life. We did a longitudinal study to address if a possible decline in motor skills in adults with RTT can be explained by the presence of common medical conditions as epilepsy, breathing disturbance, and scoliosis.

Participation and engagement in family activities among girls and young women with Rett syndrome living at home with their parents - a cross-sectional study.

Purpose: To describe the extent of participation and engagement in family activities and explore variables potentially impacting on these factors in family activities among girls and young women with Rett syndrome (RTT) under the age of 21.

Materials And Methods: The Child Participation in Family Activities (Child-PFA) questionnaire was sent to parents in the target group ( = 42). Additionally, age, number of siblings at home, ambulation level, clinical severity and level of hand function were recorded to explore possible impact.

Implementing telehealth support to increase physical activity in girls and women with Rett syndromeActivRett: protocol for a waitlist randomised controlled trial.

Introduction: Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT.

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome.

Background: Girls and women with Rett Syndrome (RTT) have low levels of daily physical activity and high levels of sedentary time. Reducing sedentary time and enhancing "uptime" activities, such as standing and walking, could be an important focus for interventions to address long-term health and quality of life in RTT.

Objective: The aim of the study was to evaluate the feasibility and health-related effects of an individualized 12-week uptime participation (U-PART) intervention in girls and women with RTT.

Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals.

Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. It is associated with intellectual and multiple disabilities leading to a high level of dependency in all aspects of daily living including participation in physical activities. This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with RTT as perceived by parents and professionals using focus groups.

Measurement of Sedentary Behaviors or "Downtime" in Rett Syndrome.

This study aimed to validate measures of sedentary time in individuals with Rett syndrome. Twenty-six individuals (median [IQR] age 16.0 (9.

Building the repertoire of measures of walking in Rett syndrome.

Background: The repertoire of measures of walking in Rett syndrome is limited. This study aimed to determine measurement properties of a modified two-minute walk test (2MWT) and a modified Rett syndrome-specific functional mobility scale (FMS-RS) in Rett syndrome.

Methods: Forty-two girls and women with Rett syndrome (median 18.

Functional abilities in aging women with Rett syndrome - the Danish cohort.

Unlabelled: Rett syndrome (RTT) is a neurodevelopmental disorder, which mainly affects females and results in multiple disabilities. Many clinical descriptions of the symptoms and functional abilities have been made medically, though mainly in children with RTT. Previous reports have established that even though the syndrome causes severe psychomotor disability, women with RTT can live long into adulthood.

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.

A common in frame duplication in ARX (c.431_454dup24) was found in a five year-old boy who presented with mild Partington syndrome. The duplication was detected by PCR amplification followed by fragment length analysis and was located in exon 2 spanning the two polyalanine tracts commonly seen to expand.

Discriminative validity of the Danish version of the Pediatric Evaluation of Disability Inventory (PEDI).

The Pediatric Evaluation of Disability Inventory (PEDI) assesses functional status in children with disabilities aged 0.5-7.5 years.

Applicability and intrarespondent reliability of the pediatric evaluation of disability inventory in a random Danish sample.

Purpose: To examine the applicability of US reference data from the Pediatric Evaluation of Disability Inventory (PEDI) in a random Danish sample and to assess intrarespondent reliability.

Methods: The PEDI was administered as a mailed questionnaire that was completed by the parents. Linear regression models and comparisons of item difficulty were performed in the data analysis.