Respiratory morbidity in Rett syndrome: an observational study

Mackay, Jessica; Leonard, Helen; Wong, Kingsley; Wilson, Andrew; Downs, Jenny

doi:10.1111/dmcn.13726

Cited by 21 publications

(16 citation statements)

References 22 publications

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“…Walking seems to have protective effects on respiratory health, beyond the inﬂuence of specific MECP2 variants, suggesting that the maintenance of activity programmes should be supported, especially during adolescence and adulthood. 31 …”

Section: Discussionmentioning

confidence: 99%

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

et al. 2020

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BackgroundRett syndrome is a complex genetic disorder with age-specific manifestations and over half of the patients surviving into middle age. However, little information about the phenotype of adult individuals with Rett syndrome is available, and mainly relies on questionnaires completed by caregivers. Here, we assess the clinical manifestations and management of adult patients with Rett syndrome and present our experience in transitioning from the paediatric to the adult clinic.MethodsWe analysed the medical records and molecular data of women aged ≥18 years with a diagnosis of classic Rett syndrome and/or pathogenic variants in MECP2, CDKL5 and FOXG1, who were in charge of our clinic.ResultsOf the 50 women with classic Rett syndrome, 94% had epilepsy (26% drug-resistant), 20% showed extrapyramidal signs, 40% sleep problems and 36% behavioural disorders. Eighty-six % patients exhibited gastrointestinal problems; 70% had scoliosis and 90% low bone density. Breathing irregularities were diagnosed in 60%. None of the patients had cardiac issues. CDKL5 patients experienced fewer breathing abnormalities than women with classic Rett syndrome.ConclusionThe delineation of an adult phenotype in Rett syndrome demonstrates the importance of a transitional programme and the need of a dedicated multidisciplinary team to optimise the clinical management of these patients.

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Section: Discussionmentioning

confidence: 99%

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

et al. 2020

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“…21 We note that the majority of studies were case studies, case series and single-case design studies, and only one study used randomisation in a stepped wedge design. 22 Use of gross motor skills as physical activity during everyday living is also an important component of health 23 and quality of life. 24 We have previously investigated sedentary time and physical activity in RTT.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2020

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IntroductionIndividuals 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.Methods and analysisThis is a multicentre study, conducted in Australia, Denmark and Israel. It is a randomised waitlist-controlled trial comparing an intervention to support physical activity with usual care. Participants are children and adults with RTT, recruited from the Australian Rett Syndrome Database, the Danish Center for Rett Syndrome and the Rett Syndrome Association of Israel. The intervention duration is 12 weeks, including fortnightly telephone contact to plan, monitor and develop individual activity programmes. Outcomes are measured at baseline, at 13 weeks and then at 25 weeks. The primary outcomes are sedentary behaviour assessed with an activPAL accelerometer and the number of daily steps measured with a StepWatch Activity Monitor. Secondary outcomes include sleep, behaviour and quality of life. Caregiver experiences will be assessed immediately after the intervention using a satisfaction questionnaire. Group differences for each outcome will be evaluated with analysis of covariance, adjusting for baseline values on an intention-to-treat basis.Ethics and disseminationEthics approval has been obtained in Western Australia from the Child and Adolescent Health Services (RGS3371), in Denmark from the Capital Region Ethics Committee (H-19040514) and in Israel from the Ariel University Institutional Review Board (AU-HEA-ML-20190331). Manuscripts on the development of the intervention from pilot work and the results of the intervention will be submitted to peer-reviewed journals. Results will be presented at conferences and consumer forums. We will develop an online resource documenting the physical activity programme and available supporting evidence.Trial registration numberNCT04167059; Pre-results.

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“…Sleep disturbances, with night waking, night laughing and screaming being distinctive features, also affect a similar proportion, though in general the prevalence decreases with age [16]. Lower respiratory tract infection was identified as the most common cause of death in our Australian population-based longitudinal dataset [4] although in an international sample only one in five had been admitted to hospital on this account in the previous five years [17]. Growth retardation is a common feature with one in three having a gastrostomy placement usually because of feeding difficulties or inadequate weight gain [18].…”

Section: Introduction 4097 Wordsmentioning

confidence: 77%

Determinants of quality of life in Rett syndrome: new findings on associations with genotype

et al. 2020

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BackgroundRett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.MethodsThe International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life.ResultsCompared with individuals with the p.Arg270* mutation, those with the p.Arg294* mutation type had the poorest quality of life (coeff −12.81, 95% CI –23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life.ConclusionsThese findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies.

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Respiratory morbidity in Rett syndrome: an observational study

Cited by 21 publications

References 22 publications

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

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

Determinants of quality of life in Rett syndrome: new findings on associations with genotype

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