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Research

Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management...

Research

Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.

Research

This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...

Research

Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.

Research

CDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.

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Social advantage may provide some protection for dental health in individuals with Rett syndrome

Research

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

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This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability.

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This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors

Research

Physical and mental health in mothers of children with Down syndrome.