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        37-48 of 390 results for 'rett syndrome'

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        Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

        Siblings of children with intellectual disability have unique family experiences, varying by type of disability. ...

        Research

        Towards evidence based care for Rett syndrome: a research model to inform management of rare disorders

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional study

        There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care. ...

        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 ...

        Research

        Parental perspectives on the communication abilities of their daughters with Rett syndrome

        This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to... ...

        Research

        Initial assessment of the StepWatch Activity Monitor™ to measure walking activity in Rett syndrome

        In girls and women with Rett syndrome, we assessed the accuracy of the StepWatch Activity Monitor™ and investigated relationships between daily step counts,... ...

        Research

        Bone mineral content and density in Rett syndrome and their contributing factors

        This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort... ...

        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

        Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        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. ...

        Research

        Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

        There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome. ...

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