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Showing results for "rett"

The trajectories of sleep disturbances in Rett syndrome

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...

Community participation for girls and women living with Rett syndrome

This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.

Assessment and management of nutrition and growth in 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...

Trends in the diagnosis of Rett syndrome in Australia

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

Linking MECP2 and pain sensitivity: the example of Rett syndrome

This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Rett syndrome in Australia: a review of the epidemiology

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Research enriching the lives of girls with Rett syndrome

A program developed by The Kids Research Institute Australia researcher Dr Jenny Downs has led to dramatic improvements in the functioning of Chinese children with Rett syndrome, and could change the world.

New study reveals Rett syndrome can strike males

A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.