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Rett syndrome and Related Disorders

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Rett syndrome and Related Disorders

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        Every individual contribution adds to our collective understanding of Rett syndrome

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        In Focus

        Participate in Research
        AussieRett
        InterRett
        MECP2 Duplication (MDBase)
        The CDKL5 Disorder
        Our Research
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        Participate in CDKL5 Research

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        Participate in InterRett / MECP2 Duplication Research

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        About Rett Syndrome

        Rett syndrome is a rare neurological disorder mainly affecting females.

        Rett syndrome affects approximately 1 in 9,000 female births in Australia. Even more rarely, boys may be affected.

        Rett syndrome is caused by mutations on the MECP2 gene.

        The clinical presentation of Rett syndrome is variable.

        Find out more
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        Marlee's story

        Marlee's story

        Imagine your baby girl is developing normally, then suddenly she starts losing skills. That's what happened to Rebecca & John's little girl Marlee, who has Rett syndrome. Watch Marlee's story & help us raise awareness & ultimately find a cure for this rare disease.

        video

        Our lives with Rett syndrome

        Our lives with Rett syndrome

        Created by Steve Wise. Helping raise awareness of Rett Syndrome; a rare neurodevelopmenal disorder that affects girls almost exclusively. Featuring interviews with parents and siblings of a group of these beautiful girls who live in Perth, Western Australia. Introduction by Dr Helen Leonard of the Telethon Kids Institute Rett Syndrome Study.

        Our research

        We manage two databases that collect information from families and clinicians to better understand the course of Rett syndrome and effectiveness of treatments.

        AussieRett was established in 1993 and aims to collect information about all children and adults in Australia with Rett syndrome born since 1976. 

        InterRett was established in 2002 and collects information about children and adults with Rett syndrome of any age from around the world.

        Help us find a cure for Rett syndrome by supporting our research

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        Latest research

        Breathing abnormalities in Rett syndrome

        Irregular breathing patterns and abdominal bloating are prominent but poorly understood features of Rett syndome.

        This study characterises the nature and severity of these autonomic abnormalities by age group and mutation type.

        This manuscript has been published in The Journal of Neurodevelopmental Disorders:

        Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H. Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study. J Neurodev Disord. 2017;9(15).

        Read article here

        Take part in the Sibling Project Survey

        We know that children with developmental disabilities sometimes require life-long support. But siblings of children with disabilities may also face some challenges, and quite often they are not heard.

        How to get involved

        Latest news

        Thinking big to tackle kids’ brain development

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        Research enriching the lives of girls with Rett syndrome

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        Global research for rare disorder

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        New research led by Telethon Kids Institute and Curtin University researchers has found that preventive therapy is the most effective intervention strategy for tackling tuberculosis (TB). ⠀⠀⠀⠀⠀⠀ TB is... See more

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        Join parenting author Maggie Dent in supporting Embrace, a new research centre at Telethon Kids that aims to find the answers to our most pressing mental health questions.

        Join parenting author Maggie Dent in supporting Embrace, a new research centre at Telethon Kids that aims to find the answers to our most pressing mental health questions.

        Telethon Kids Institute