Browse study websites

Discover. Prevent. Cure.

Menu Fundraise Donate

    Recommended pages

      Do you mean

        85-96 of 493 results for 'CDKL5''

        Refine research

        Research

        What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

        The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

        Research

        The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life

        The transition from school to adulthood for young adults with an intellectual disability involves movement from a generally secure and supported school... ...

        Research

        Health conditions and their impact among adolescents and young adults with down syndrome

        The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the... ...

        Research

        Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from Birth

        This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia. ...

        Research

        qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

        This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome. ...

        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

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

        How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication ...

        Research

        Expanding the clinical picture of the MECP2 Duplication syndrome

        Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

        Research

        Community participation for girls and women living with Rett syndrome

        Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports. ...

        Research

        Mothers with intellectual disability and their children in Western Australia

        Helen Leonard HM MBChB MPH Principal Research Fellow +61 419 956 946 helen.leonard@telethonkids.org.au Principal Research Fellow Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett ...

        Research

        Evaluation Tools Developed for Rett Syndrome

        Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. ...

        Research

        Australian children living with rare diseases: health service use and barriers to accessing care

        Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare. ...

        Page 8 of 42