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We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health 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.

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Bone mass and density are low in females with Rett syndrome.

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

Research

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

Research

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

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors

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

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families