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Management of oral and dental problems in Rett syndrome: a narrative review of the literatureReview of the available dental literature on assessment and management of the oral manifestations of Rett syndrome
Research
The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
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Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
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
We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.
We interviewed 21 families with a daughter with Rett Syndrome about aspects of their daughters' lives that were satisfying or challenging to them.
This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured.
Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.
We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.
Research
Parental perspectives on the communication abilities of their daughters with Rett syndromeThis study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...