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        Chance to showcase WA expertise on the international stage thanks to Aspire Awards

        Two of Telethon Kids Institute’s best and brightest will share in $10,000 of funding to use for investment in their professional growth through attendance at an international conference, when safe to do so. ...

        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

        The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

        The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

        Research

        Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

        To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability. ...

        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

        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

        Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-being

        For mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing ...

        Research

        Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndrome

        The aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome. ...

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