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Research
Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
Research
Gastrointestinal dysmotility in rett syndromeThrough evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.
We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.
Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.
Research
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.
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Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult lifeThe transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school...
Research
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...