Search

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability. Translation and cross-cultural adaptation were performed in concordance with internationally accepted guidelines. A pretest was performed, and expert validation was assured. Video data of three girls with Rett syndrome was independently assessed by 27 physiotherapists via an online webinar to measure inter-rater reliability. Additionally, videos of 17 individuals with Rett syndrome were scored twice by two raters to assess intra-rater reliability. The reliability of the total score, the three subscale scores and the new items were analyzed using Intraclass Correlation Coefficients (ICC). Good comprehensibility and expert validation of the RSMGS-NL was achieved, and four items were added to the original scale. Inter-rater reliability for the total score was excellent (ICC 0.97, 95% CI 0.89–0.99), and good to perfect inter-rater reliability for the three subscales; Sitting, Standing & walking and Challenge was found (ICC values 1.0 (95% CI 0), 0.98 (95% CI 0.91–0.99) and 0.82 (95% CI 0.93–0.99) respectively). The intra-rater reliability was excellent for the total test score (ICC 0.98, 95% CI 0.97–0.99) and good to excellent for the subscale scores (ICC values 0.87 (95% CI 0.75–0.94), 0.99 (95% CI 0.98–1.0) and 0.97 (95% CI 0.95–0.99) respectively). The four new items (Standing to sitting, walking down a slope, ascending the stairs, descending the stairs) showed good to excellent intra-rater reliability. The RSGMS-NL is a reliable measure of gross motor skills in Dutch individuals with Rett syndrome. [ABSTRACT FROM AUTHOR]

Purpose: To describe and explore carer quality of life (QoL) and night-time attendance to their child in parents of non-ambulant youth with Neuromuscular Disorders. Methods: A cross-sectional population-based, comprehensive survey including the Adult Carer QoL (AC-QoL) questionnaire, measures of social context and youths' physical status. Associations between carer-QoL or frequency of parents' night-time attendance with independent variables were explored using linear and logistic regression models, respectively. Results: Parents' perceived lower carer-QoL (mean 76.5/120, SD 18.5) when they attended to their child twice a night or more (n = 17/35) and with shorter time since their child was prescribed noninvasive ventilation (NIV). Parental night-time attendance was not associated with youth's actual use of NIV, but was more likely when youth required assistance to turn in bed, reported frequent sleep discomfort and had more severe joint contractures. Conclusions: To optimize parent carer-QoL, interventions must address parents' frequency of night-time attendance and youths' sleep comfort. [ABSTRACT FROM AUTHOR]

Background: Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability. We assessed the feasibility of a telehealth program supporting gross motor skills in RTT. Methods: Five girls with RTT were assessed and a home-based exercise program developed in response to functional goals. Families then participated in monthly Skype sessions for 6 months, guided by a physiotherapist to monitor progress and adjust the program as necessary. Goal Attainment Scaling was used to evaluate progress and a parental satisfaction questionnaire was administered. Results: Four goals were established for each participant and progress was greater than would be expected in 16 of 20 goals. Parents evaluated the program as feasible and useful for their daughters. Discussion: A telehealth model of home-based intervention supported individuals with RTT to achieve gross motor skills and was found to be feasible. This model is important at present times during COVID-19 outbreak and lockdown. [ABSTRACT FROM AUTHOR]