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Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort studyWe investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.
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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeThere were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.
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"What about us?"- the drawbacks of current bruxism assessment criteria in evaluating vulnerable groupsJenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Head, Child Disability Principal Research Fellow
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Assessment and management of nutrition and growth in rett syndromeWe developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...
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Resourceful and creative methods are necessary to research rare disordersOur investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.
We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.
Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.