Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor abilities supplemented with parent report data was collected for 255 girls and women registered with the Australian Rett Syndrome Database, and the factor structure and relationships between motor scores, age and genotype were investigated. Clinical assessment scores for 38 girls and women with Rett syndrome who attended the Danish Center for Rett Syndrome were used to assess consistency of measurement. Principal components analysis enabled the calculation of three factor scores: Sitting, Standing and Walking, and Challenge. Motor scores were poorer with increasing age and those with the p.Arg133Cys, p.Arg294* or p.Arg306Cys mutation achieved higher scores than those with a large deletion. The repeatability of clinical assessment was excellent (intraclass correlation coefficient for total score 0.99, 95% CI 0.93–0.98). The standard error of measurement for the total score was 2 points and we would be 95% confident that a change 4 points in the 45-point scale would be greater than within-subject measurement error. The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials.

Women with RTT are very dependent on caregivers who maintain and rehabilitate their functional abilities. They can often walk short distances unassisted, but do have trouble transferring and thus getting up from a chair on their own. They have severe problems communicating and they often perform subtle signs that can be difficult to recognize. Implications for rehabilitation 3/4 of aging RTT women are household ambulators - daily training of motor functions and focus on assisting the initiation of movements are needed lifelong to maintain walking ability and participation in daily activities More than half of aging women with RTT can grab on to things - persons with hand function should be motivated to use this ability in the context of eating Communication is a difficult task especially for the aging RTT women - Communicative signs, their meaning and how to react to them should be written down for every woman in an easy accessible way to all caregivers The majority of aging RTT women can point out things of interest - they should be given the opportunity to participate in choice making.

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This study demonstrated high levels of sedentary time and low daily step counts in a Danish population of females with RTT. Advancing age and lower walking skills were associated with higher levels of sedentary time. Implications for Rehabilitation Sedentary lifestyles in individuals with disabilities have a negative impact on health and quality of life. High levels of sedentary time and low daily step counts were demonstrated in a Danish population of females with Rett syndrome. Advancing age and inability to walk independently were strongly associated with higher levels of sedentary time in females with Rett syndrome. Understanding patterns of sedentary behaviour and physical activity can aid health care professionals in developing health-promoting physical activity interventions.

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. Design The study used a single-group pretest-posttest design with 4 assessments (2 baseline, postintervention, and follow-up). Methods A participation-based intervention using a whole-day approach was used. During a 12-week intervention period, individualized programs focused on participation in enjoyable uptime activities in home, school/day center, and community settings. Feasibility was assessed with a study-specific questionnaire. Primary outcome measures were sedentary time and daily step count. Secondary outcomes were gross motor skills, walking capacity, quality of life, and goal attainment scaling. Results Fourteen girls and women who were 5 to 48 years old and had RTT participated. The U-PART intervention was perceived as feasible by caregivers. Similar scores were observed at baseline assessments in all outcomes. Positive effects with small to medium effect sizes (0.27–0.54) were seen in sedentary time (−4%), daily step count (+689 steps per day), walking capacity (+18.8 m), quality of life (+2.75 points), and goal attainment scaling after the intervention. Positive effects were maintained in sedentary time (−3.2%) and walking capacity (+12.1 m) at short-term follow-up. Limitations This study was limited by the lack of control group. However, participants acted as their own control, and the stable baseline period partially mitigated this issue. Conclusions The U-PART intervention was found to be feasible and effective in the short term in girls and women with RTT.

The PEDI reference values seem partly applicable in a Danish population. In a Danish rehabilitation setting, interpreting PEDI scores with regard to detecting functional delays must be done cautiously.

This study aimed to validate measures of sedentary time in individuals with Rett syndrome. Twenty-six individuals (median [IQR] age 16.0 (9.4-20.6) years) wore an activPAL accelerometer during video-taped activities and agreement was determined between sedentary time determined by the activPAL and observation. For 11 individuals (median [IQR] age 14.5 (11.5-25.6) years), linear regression was used to determine the relationship between sedentary time recorded on the modified Bouchard activity record diary card and measured using the activPAL. In comparison to observation, the activPAL accurately measured duration of sedentary time with a mean difference (limit of agreement) of -1.0 (6.3) minutes. The duration of Bouchard activity record downtime accounted for 73% of the variance of sedentary time measured by the activPAL (coefficient 0.762, 95% CI 0.413 to 1.111). These data provide clinicians and caregivers with capacity to investigate strategies that would aim to increase activity in the nonexercise component of the activity continuum.

The Pediatric Evaluation of Disability Inventory (PEDI) assesses functional status in children with disabilities aged 0.5-7.5 years. The purpose of this study was to examine if the Danish version of the PEDI was able to discriminate between nondisabled children and children with cerebral palsy (CP) or juvenile idiopathic arthritis (JIA). Convenience sampling was used to select the clinical samples that consisted of 22 children with CP and 14 children with JIA aged 1.5-7.5 years. An additional sample, consisting of 224 nondisabled children aged 1.0-5.9 years, was obtained on the basis of random sampling. The PEDI was administered as a questionnaire completed by the parents. Results from receiver operating characteristics (ROC) analysis showed that in the case of discrimination between children with CP and nondisabled children, the sensitivity and specificity were 77.3 and 97.8%, respectively. In the discrimination between children with JIA and nondisabled children, the sensitivity and specificity were 99.8 and 81.7%, respectively. Study results indicate that the Danish version of the PEDI shows good discriminative validity. Further studies of the discriminative validity are recommended.