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Research

Genotype and sleep independently predict mental health in Rett syndrome: An observational study

Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.

Research

Early determinants of fractures in Rett syndrome

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

Assessment and management of nutrition and growth in Rett syndrome

We developed recommendations to assess and manage issues relating to poor growth and weight gain in Rett syndrome, including consideration of gastrostomy.

Experience of gastrostomy using a quality care framework: The example of Rett syndrome

We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.

Parental experiences of scoliosis management

We investigated what parents thought about the ways to manage scoliosis and what they thought they needed to help them better manage their daughter's scoliosis.

Publications

The list of The Siblings Project publications

The Sibling Snapshot Project

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Research

Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study

To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.