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This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...
This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
This study aimed to describe overall survival and adult health in those with Rett syndrome.
Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,...
The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.
We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...
The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
We argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
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.