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This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

Research

The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.

Research

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

Research

Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.

Research

The Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.

Research

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

Research

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

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Senior Research Fellow

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A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

News & Events

New guidelines a model for better management of rare conditions