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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Updating the profile of C-terminal MECP2 deletions in Rett syndromeThis study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
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The diagnosis of autism in a female: could it be Rett syndrome?The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
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Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
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.