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Research

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Research

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

Research

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being

Research

Management of oral and dental problems in Rett syndrome: a narrative review of the literature

Review of the available dental literature on assessment and management of the oral manifestations of Rett syndrome

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation

Gastrointestinal dysmotility in Rett syndrome

We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

We interviewed 21 families with a daughter with Rett Syndrome about aspects of their daughters' lives that were satisfying or challenging to them.