The trajectories of sleep disturbances in Rett syndrome

Wong, Kingsley; Leonard, Helen; Jacoby, Peter; Ellaway, Carolyn; Downs, Jenny

doi:10.1111/jsr.12240

Cited by 83 publications

(93 citation statements)

References 35 publications

(59 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The Australian Rett Syndrome Database (ARSD), a longitudinal and population-based registry of confirmed cases of Rett syndrome born since 1976 [Leonard et al, 1997;Wong et al, 2014], was used as a source of recruitment. Families of 389 females with Rett syndrome, of whom 73 (18.8%) had died, had provided information to the ARSD at the time of recruitment.…”

Section: Methods Participantsmentioning

confidence: 99%

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Epstein

Leonard

Davis

et al. 2015

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

Rett syndrome is a neurodevelopmental disorder mainly affecting females and associated with a mutation on the MECP2 gene. There has been no systematic evaluation of the domains of quality of life (QOL) in Rett syndrome. The aims of this study were to explore QOL in school-aged children with Rett syndrome and compare domains with those identified in other available QOL scales. The sample comprised 21 families registered with the Australian Rett Syndrome Database whose daughter with Rett syndrome was aged 6-18 years. Semi-structured telephone interviews were conducted with each parent caregiver (19 mothers, 2 fathers) to investigate aspects of their daughter's life that were satisfying or challenging to her. Qualitative thematic analysis using a grounded theory framework was conducted, and emerging domains compared with those in two generic and three disability parent-report child QOL measures. Ten domains were identified: physical health, body pain, and discomfort, behavioral and emotional well-being, communication skills, movement and mobility, social connectedness, variety of activities, provision of targeted services, stability of daily routines, and the natural environment. The two latter domains were newly identified and each domain contained elements not represented in the comparison measures. Our data articulated important aspects of life beyond the genetic diagnosis. Existing QOL scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome. Our findings support the construction of a new parent-report measure to enable measurement of QOL in this group.

show abstract

Section: Methods Participantsmentioning

confidence: 99%

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Epstein

Leonard

Davis

et al. 2015

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

show abstract

“…Families and carers of females registered in the database were recruited from multiple sources including the Australian Paediatric Surveillance Unit (http://www.apsu.org.au/) and were invited to complete an initial questionnaire at registration. They were also asked to participate in up to six follow‐up surveys administered in 2000, 2002, 2004, 2006, 2009, and 2011 …”

Section: Methodsmentioning

confidence: 99%

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Downs

Torode

Wong

et al. 2015

Develop Med Child Neuro

Self Cite

View full text Add to dashboard Cite

LRTILower respiratory tract infections AIM Scoliosis is a common comorbidity in Rett syndrome and spinal fusion may be recommended if severe. We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.METHOD Data were ascertained from hospital medical records, the Australian Rett SyndromeDatabase, a longitudinal and population-based registry, and from the Australian Institute of Health and Welfare National Death Index database. Cox regression and generalized estimating equation models were used to estimate the effects of spinal surgery on survival and severe respiratory infection respectively in 140 females who developed severe scoliosis (Cobb angle ≥45°) before adulthood.RESULTS After adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (hazard ratio [HR] 0.30, 95% confidence interval [CI] 0.12-0.74; p=0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06-0.52; p=0.002). There was some evidence to suggest that spinal fusion was associated with a reduction in risk of severe respiratory infection among those with early onset scoliosis (risk ratio 0.41, 95% CI 0.16-1.03; p=0.06). Rett syndrome is a rare neurodevelopmental disorder that predominantly affects females 1 and is usually associated with mutations in the methyl-CpG-binding protein 2 (MECP2) gene. INTERPRETATION2 Following initial normal or near normal early development, Rett syndrome is characterized by loss of speech and hand function, stereotypical hand movements, and gait disturbance as well as the development of comorbidities.1 Scoliosis is the most common orthopaedic complication affecting 75% of females by age 13 years. 3 In the face of a poor evidence base to guide management of scoliosis in Rett syndrome we assembled an international expert panel and, using available literature mainly on neuromuscular scoliosis management, published the first published guidelines on this topic. 4 Spinal fusion may be considered if the Cobb angle of the scoliosis progresses to >40 to 50°. 4 Surgery is complex and in Rett syndrome is performed within the context of problems including epilepsy, 5 increased sensitivity to anaesthetics, 6 and poor growth, 1 highlighting the need for a Rett syndrome-specific management plan. Multidisciplinary care is essential.A high fraction of short-term complications of spinal fusion mainly related to the respiratory system have been reported 7 but correction of the scoliosis is usually satisfactory with spinal symmetry and sitting balance improved following surgery.8 Participation in activities of daily living is at least maintained at preoperative levels with some improvement in some females. 9 Families recently reported high levels of overall satisfaction particularly in relation to surgical and ICU care.10 What is not known is how surgical and conservative treatments compare for severe scoliosis in Rett syndrome in relation to ...

show abstract

“…166 Further population-based research found a high prevalence of sleep problems with a decrease with age, especially for night laughing and screaming. 167,168 The highest likelihood of sleep problems occurred in those with a large deletion (particularly night laughing) and in those with p.Arg294* (see Fig. 2).…”

Section: Sleep Disturbancesmentioning

confidence: 99%

“…2). 167,168 A recent study, using InterRett for ascertainment, surveyed parents/carers of 364 genetically confirmed cases aged 2-57 years. 169 Night waking was frequent, and, consistent with previous research, those with the p.Arg294*were most likely to have problems initiating and maintaining sleep (see Figs.…”

Section: Sleep Disturbancesmentioning

confidence: 99%

Clinical and biological progress over 50 years in Rett syndrome

2016

Self Cite

View full text Add to dashboard Cite

It is fifty years since Andreas Rett first described Rett syndrome, a disorder now known to be caused by a mutation in the MECP2 gene. A compelling blend of astute clinical observations, clinical and laboratory research has already built our understanding of Rett syndrome and its biological underpinnings. We document the contributions of the early pioneers and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, the lessons from both cell and animal models and how they may inform future clinical trials. With a focus on the core criteria, we examine the relationships that have been demonstrated between genotype and clinical severity. We review what is known about the many comorbidities that occur in this disorder and how genotype may also modify their presentation. We acknowledge the important drivers that are accelerating this research program including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we conclude by highlighting the major milestones since 1966 and what they mean for the day-to-day lives of those with Rett syndrome and their families. Key pointsThere has been an explosion of knowledge about Rett syndrome in relation to its genetic basis, clinical characteristics and their relationships during the fifty years since the disorder was first described by Andreas Rett.Whilst initially the diagnosis of Rett syndrome was based only on clinical criteria, identifying its genetic cause has had a major positive impact on how clinicians diagnose the disorder but also provides new challenges as we enter the era of next generation sequencing.

show abstract

The trajectories of sleep disturbances in Rett syndrome

Cited by 83 publications

References 35 publications

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Clinical and biological progress over 50 years in Rett syndrome

Contact Info

Product

Resources

About