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        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. ...

        People

        Kai Schweizer

        Kai Schweizer KS BA, MSexol PhD Student Kai.schweizer@telethonkids.org.au they/he @KaiSchweizer Kai Schweizer is a researcher, sexologist, and youth ...

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        Research

        Pubertal trajectory in females with Rett syndrome: A population-based study

        The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. ...

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        Service availability

        We are currently taking in clients for speech therapy, clinical psychology and occupational therapy services for children aged up to nine years of age at our Subiaco clinic, located on Roberts Road. ...

        People

        Claire Perrozzi

        Speech Pathologist ...

        Research

        Epidemiology of craniofacial anomalies and association with intellectual disabilities in Western Australia: A population based study

        Helen Mohammed Leonard Junaid HM MJ MBChB MPH BDS, MDS, MFDS RCPS (Glasg.), DDPH RCS (Eng) Principal Research Fellow Research Officer +61 419 956 ...

        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 ...

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        Dr Kandice Varcin

        Kandice Varcin KJ M.Psych (Clinical), PhD Honorary Research Associate ​kandice.varcin@telethonkids.org.au Dr Kandice Varcin is a Research Fellow who ...

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        Research

        Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database

        Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal ...

        Research

        Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

        Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic... ...

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