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        121-132 of 493 results for 'CDKL5''

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        Requirements for improving health and well-being of children with Prader-Willi syndrome and their families

        Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement ...

        Research

        Diagnosis of Autism Spectrum Disorder According to Maternal-Race Ethnicity and Country of Birth: A Register-Based Study

        An increased prevalence of autism spectrum disorder (ASD) among children of immigrant backgrounds has been observed ...

        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

        Implementing Telehealth support to increase physical activity in girls and women with Rett syndrome

        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

        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

        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

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

        This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

        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

        Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome

        This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. ...

        Research

        Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

        There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. ...

        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

        Variation over time in medical conditions and health service utilization of children with Down syndrome

        Variation over time in medical conditions and health service utilization of children with Down syndrome. ...

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