Building the repertoire of measures of walking in Rett syndrome

Stahlhut, Michelle; Downs, Jenny; Leonard, Helen; Bisgaard, Anne Marie; Nordmark, Eva

doi:10.1080/09638288.2016.1212280

Cited by 22 publications

(12 citation statements)

References 44 publications

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“…A universal, valid, and reliable scale is the Functional Mobility Scale (FMS), designed to classify children with cerebral palsy (CP) according to the assistance they use during walking in the house (5 m), between classes at school (50 m), and in the community (500 m) 20,21 . Although the scale was developed for children with CP aged 4 to 18 years, the FMS is widely used in children and adults with other neuromotor disorders, including Dravet syndrome 11,15,22,23 . Whereas FMS can be used to define walking restrictions in children with neuromotor disorders, a more extensive scale is required to assess other activities of daily living.…”

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confidence: 99%

“…20,21 Although the scale was developed for children with CP aged 4 to 18 years, the FMS is widely used in children and adults with other neuromotor disorders, including Dravet syndrome. 11, 15,22,23 Whereas FMS can be used to define walking restrictions in children with neuromotor disorders, a more extensive scale is required to assess other activities of daily living. The Mobility Questionnaire 28 (MobQues28) is a valid and reliable questionnaire that provides an overview of the restrictions in activities of daily living.…”

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Functional mobility in children and young adults with Dravet syndrome

Verheyen

Wyers

Lambrecht

et al. 2023

Develop Med Child Neuro

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AimThis cohort study aimed to describe functional mobility in Dravet syndrome, a developmental and epileptic encephalopathy.MethodFunctional mobility was assessed in individuals (aged 3–25 years), diagnosed with Dravet syndrome, using the Functional Mobility Scale (FMS), Mobility Questionnaire 28 (MobQues28), and estimated walking distance. Secondary outcome variables were Gait Profile Score (GPS), walking velocity, age at independent walking, intellectual disability, seizure frequency, genetic variant type, and body mass index (BMI).ResultsForty participants aged 3 years to 24 years 2 months (mean = 12 years 2 months) had a median MobQues28 of 79%, median scores of 5, 5, and 4 for the FMS 5 m, 50 m, and 500 m and a median estimated walking distance of 1 km to 3 km. Most difficulties were seen in walking up and down the stairs, walking over obstacles, kicking a ball, and running. MobQues28 scores showed a significant decrease (−6.6%, p = 0.016) in the age category of young adults (≥18 years). After correcting for age, MobQues28 was correlated to age at independent walking (−0.485, p = 0.002), GPS (−0.460, p = 0.003), and walking velocity (0.334, p = 0.038). Analysis of variance showed a significant effect of intellectual disability and BMI on MobQues28 (p = 0.029, p = 0.049). No effect of seizure frequency or genetic variant was found (p = 0.579, p = 0.337).InterpretationFunctional mobility limitations were observed mainly in dual tasks and activities requiring stability, with limitations increasing from the age of 18 years. Age at independent walking, gait impairments, intellectual disability, and BMI can impact functional mobility in Dravet syndrome.

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Functional mobility in children and young adults with Dravet syndrome

Verheyen

Wyers

Lambrecht

et al. 2023

Develop Med Child Neuro

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“…This study pointed to some facilitators within the physical environment including versatile mobility aids and accessible interior designs consistent with previous studies (Bloemen et al, 2015; Dixon-Ibarra et al, 2018; Shields et al, 2012). For this study, the only barrier relating to the outdoor environment was the weather condition, although other studies have documented generally poorer participation and walking in community settings in RTT (Andrews et al, 2013; Stahlhut, Downs, Leonard, Bisgaard, & Nordmark, 2017). Participation in outdoor “uptime” activities needs to be further explored, as being outdoors is thought to be a positive aspect of quality of life in RTT (Epstein et al, 2015).…”

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confidence: 93%

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

et al. 2018

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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. Through thematic analysis, one central theme emerged: a constant balance to do the best thing for the girl or woman. Within the central theme, five subthemes of facilitators and barriers were identified relating to the individual and the physical, organizational, social, and attitudinal environments. Environmental barriers can be reduced through policy and management-level changes in health promotion and strong advocacy of physical activity by health professionals. Targeting both facilitators and barriers of "uptime" activities enables the planning and implementing of health-promoting interventions in individuals with RTT.

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“…Downs et al 123–125 tested the use of accelerometers in 2 studies and validated the Rett Syndrome Gross Motor Scale in 1 study. Stahlhut et al 126 compared the modified 2 min walk test and a modified Rett syndrome-specific functional mobility scale. Dy et al and Fyfe et al 58 both developed and tested coding protocols for video-taped evaluation of hand stereotypies 127.…”

Section: Resultsmentioning

confidence: 99%

Scoping review of symptoms in children with rare, progressive, life-threatening disorders

Pawliuk

Widger

Dewan

et al. 2019

BMJ Support Palliat Care

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BackgroundQ3 conditions are progressive, metabolic, neurological or chromosomal childhood conditions without a cure. Children with these conditions face an unknown lifespan as well as unstable and uncomfortable symptoms. Clinicians and other healthcare professionals are challenged by a lack of evidence for symptom management for these conditions.AimsIn this scoping review, we systematically identified and mapped the existing literature on symptom management for children with Q3 conditions. We focused on the most common and distressing symptoms, namely alertness, behavioural problems, bowel incontinence, breathing difficulties, constipation, feeding difficulties, sleep disturbance, temperature regulation, tone and motor problems and urinary incontinence. For children with complex health conditions, good symptom management is pertinent to ensure the highest possible quality of life.MethodsScoping review. Electronic database searches in Ovid MEDLINE, Embase and CINAHL and a comprehensive grey literature search.ResultsWe included 292 studies in our final synthesis. The most commonly reported conditions in the studies were Rett syndrome (n=69), followed by Cornelia de Lange syndrome (n=25) and tuberous sclerosis (n=16). Tone and motor problems were the most commonly investigated symptom (n=141), followed by behavioural problems (n=82) and sleep disturbance (n=62).ConclusionThe evidence for symptom management in Q3 conditions is concentrated around a few conditions, and these studies may not be applicable to other conditions. The evidence is dispersed in the literature and difficult to access, which further challenges healthcare providers. More research needs to be done in these conditions to provide high-quality evidence for the care of these children.

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Building the repertoire of measures of walking in Rett syndrome

Cited by 22 publications

References 44 publications

Functional mobility in children and young adults with Dravet syndrome

Functional mobility in children and young adults with Dravet syndrome

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

Scoping review of symptoms in children with rare, progressive, life-threatening disorders

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