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        81-90 of 528 results for 'CDKL5'

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        Research

        Enablers and barriers in dental attendance in Rett syndrome: an international observational study

        Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety. ...

        Research

        Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome

        People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

        Research

        Association between ABO, Rh blood groups, lip and dermatoglyphic patterns, and nonsyndromic oral clefts: A case-control study

        The objective of the study is to determine the association between nonsyndromic oral clefts (OC) in children and ABO, Rh blood groups, lip, and dermatoglyphic patterns of their unaffected parents. ...

        Research

        Down Syndrome Clinical Trial- BTD-001

        Helen Jenny Peter Leonard Downs Richmond HM JA PC MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Program Head, ...

        Research

        Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samples

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 ...

        Research

        Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

        Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis. ...

        Research

        Longitudinal hand function in Rett syndrome

        Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating... ...

        Research

        Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trial

        Individuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT. ...

        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

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

        Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome ...

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