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Research
Oral health experiences of individuals with Rett syndrome: A retrospective studySocial advantage may provide some protection for dental health in individuals with Rett syndrome
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Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practicesAttention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome
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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trialWe investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.
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Validating the rett syndrome gross motor scaleThe Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials
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An exploration of the use of eye gaze and gestures in females with rett syndromeEye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities
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Spinal fusion in girls with Rett syndrome: Post-operative recovery and family experiencesRett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if...
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Family satisfaction following spinal fusion in Rett syndromeFamilies participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
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Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric studyValidated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.