The Natural History of Scoliosis in Females With Rett Syndrome

Downs, Jenny; Torode, Ian; Wong, Kingsley; Ellaway, Carolyn; Elliott, Elizabeth J; Christodoulou, John; Jacoby, Peter; Thomson, Margaret R.; Izatt, Maree T.; Askin, Geoffrey N.; McPhee, Bruce; Bridge, Corinne; Cundy, Peter; Leonard, Helen

doi:10.1097/brs.0000000000001399

Cited by 60 publications

(71 citation statements)

References 29 publications

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“…21 We have previously observed that, compared with those unable to walk, maintenance of walking skills is associated with less marked progression of scoliosis. 3 Extending our understanding for those with walking skills, scoliosis had little relationship with the amount of activity. However, more frequent seizures had a detrimental effect on activity, possibly in relation to reduced energy levels following seizures or side effects from antiepileptic medications such as lethargy, sleepiness, and poor balance.…”

Section: Discussionmentioning

confidence: 99%

“…1 Seven follow-up questionnaires have been administered between 1996 and 2012 to families and carers of registered cases. 3 In 2012, families whose daughters could walk independently or with assistance, as indicated in the database, were invited to participate in this exploratory study. Longitudinal questionnaire data were interrogated to identify whether scoliosis or epilepsy had been diagnosed or not, and seizure frequency was extracted from the 2012 follow-up questionnaire.…”

Section: Methodsmentioning

confidence: 99%

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Quantification of walking‐based physical activity and sedentary time in individuals with Rett syndrome

Downs

Leonard

Wong

et al. 2017

Develop Med Child Neuro

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AIM To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy. METHOD Sixty-four participants with a mean age of 17 years and 7 months (standard deviation [SD] 9y) were recruited from the Australian Rett Syndrome Database for this cross-sectional study. Each participant wore a StepWatch Activity Monitor for at least 4 days. Linear regression models were used to assess relationships between daily step count and the proportion of waking hours spent in sedentary time with the covariates of age group, walking ability, presence of scoliosis, and frequency of seizures. RESULTS On average, 62% (SD 19%) of waking hours were sedentary and 20% (SD 8%) was at cadences lower than or equal to 20 steps in a minute. The median daily steps count was 5093 (interquartile range 2026–8602). Compared with girls younger than 13 years of age and accounting for the effects of covariates, adults took fewer steps, and both teenagers and adults had more sedentary time. INTERPRETATION Teenagers and adults led the least active lives and would appear to be in particular need of interventions aiming to optimize slow walking-based physical activity and reduce sedentary time.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Quantification of walking‐based physical activity and sedentary time in individuals with Rett syndrome

Downs

Leonard

Wong

et al. 2017

Develop Med Child Neuro

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“…Growth and nutritional issues are frequently encountered in RTT and require close monitoring and aggressive support [16,20]. Orthopedic issues are also common, with scoliosis occurring in approximately 85% of affected girls and requiring surgical stabilization in 13% [22,23]. Highly prevalent related issues are bone health (i.e.…”

Section: Rtt Diagnosis Clinical Features and Managementmentioning

confidence: 99%

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

Kaufmann

Stallworth

Everman

et al. 2016

Expert Opinion on Orphan Drugs

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Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cognitive, behavioral, and physical disability. No known treatment exists beyond symptomatic management, and while insights into the genetic cause, pathophysiology, neurobiology, and natural history of RTT have been gained, many challenges remain. Areas covered: Based on a comprehensive survey of the primary literature on RTT, this article describes and comments upon the general and unique features of the disorder, genetic and neurobiological bases of drug development, and the history of clinical trials in RTT, with an emphasis on drug trial design, outcome measures, and implementation. Expert opinion: Neurobiologically based drug trials are the ultimate goal in RTT, and due to the complexity and global nature of the disorder, drugs targeting both general mechanisms (e.g., growth factors) and specific systems (e.g., glutamate modulators) could be effective. Trial design should optimize data on safety and efficacy, but selection of outcome measures with adequate measurement properties, as well as innovative strategies, such as those enhancing synaptic plasticity and use of biomarkers, are essential for progress in RTT and other neurodevelopmental disorders.

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“…Recovery of ambulation skills was more likely for those walking independently than with those who required assistance to walk being vulnerable to losing this skill, regardless of the mode of orthopaedic management. Assisted ambulation has been associated with a gentler trajectory of scoliosis compared with those unable to walk (Downs et al ) and is associated with benefits for quality of life (Epstein et al ). The development of clinical strategies that prevent avoidable loss of assisted ambulation is an important topic of future research.…”

Section: Discussionmentioning

confidence: 99%

A qualitative investigation of recovery after femoral fracture in Rett syndrome

Horne

Leonard

Stannage

et al. 2016

Child

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BACKGROUND Children with severe disability often develop osteoporosis and have an increased risk of fracture. In Rett syndrome, the prevalence of fracture is four times greater than in the general population and the femur is commonly affected. This study used qualitative methods to investigate the regaining of mobility within 12 months following femoral fracture in Rett syndrome and parent caregiver experiences. METHODS Caregivers (n=14) of cases registered with the Australian Rett Syndrome Database with a daughter with Rett syndrome were recruited if their daughter sustained a femoral fracture between 2009 and 2014. Median (IQR) age at fracture was 11 years 4 months (8 years 8 months to 22 years 3 months). Qualitative methods were used to investigate parent/caregiver experiences and their daughter’s recovery following fracture. Themes in the interview data were identified with thematic analysis. RESULTS Operative management was chosen for those walking independently and non-operative management for most of the remaining. All who walked independently and one of the four who required assistance recovered pre-operative walking skills within 6 months. Themes identified by caregivers related to the complexities of pain recognition, the caregiver emotional journey and later rebuilding of relationships with service providers. CONCLUSIONS Those who walked with assistance were vulnerable to loss of this skill. Difficulties in pain recognition increased time to diagnose fracture and the acute episode was associated with heightened caregiver stress. Service providers can use family-centred practice models to support the strengthening of family functioning following this acute event that is surprisingly common in those with severe disability.

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The Natural History of Scoliosis in Females With Rett Syndrome

Abstract: 4.

Cited by 60 publications

References 29 publications

Quantification of walking‐based physical activity and sedentary time in individuals with Rett syndrome

Quantification of walking‐based physical activity and sedentary time in individuals with Rett syndrome

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

A qualitative investigation of recovery after femoral fracture in Rett syndrome

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