Browse study websites

Discover. Prevent. Cure.

Menu Fundraise Donate

    Recommended pages

      Do you mean

        Rett Syndrome

        A severe neurodevelopmental disorder mostly affecting girls.

        What is Rett syndrome?

        Rett syndrome is a rare neurological disorder affecting mainly girls, which leads to severe physical and intellectual disability. 

        Those with Rett syndrome often develop normally until 6 to 18 months of age when they enter a period of regression, lose speech and motor skills and develop repetitive hand movements. It can lead to seizures, irregular breathing, spinal curvature and gastrointestinal issues.

        Less than 1% of recorded cases are inherited or passed from one generation to the next.

        How common is Rett syndrome?

        Rett syndrome affects around 1 in every 10,000 female births. In Western Australia, on average one girl born each year will develop Rett syndrome.

        Why do more girls have Rett syndrome than boys?

        Rett syndrome is caused by a mutation in the X-linked MECP2 gene and MECP2 mutations arise much more frequently in females than in males.

        However unlike boys, girls have a second X chromosome which partially protects them from the damaging effects of the gene mutation that causes Rett syndrome. When it does occur in boys, it generally affects them much more severely, may not be diagnosed and is usually associated with death in the first year of life.

        Is there a cure?

        Unfortunately, there is no cure although there is much research underway internationally seeking such a cure. Researchers at Telethon Kids continue to focus on understanding Rett syndrome, improving clinical care and advocating for parents, and contributing to the quest to discover a cure. 

        The on-going quest to find a cure and prevent severe disability has led to our researchers establishing the Australian population-based longitudinal study (AussieRett) and a large international database (InterRett). Involving more than 2,400 families, these databases have highlighted crucial similarities and differences in the condition.

        Collected with the aim of improving quality of life, the data has already allowed our researchers to uncover unmet needs, reasons for misdiagnosis and links between genetic findings and clinical characteristics.

        Insights were revealed through extensive parent questionnaires, DNA sampling, video footage and health and wellbeing updates collected for over 20 years.

        What are the early signs to look out for?

        Girls affected by Rett syndrome generally tend to develop as normal for the first 6-12 months of life, after which they lose hand and communication skills. Sometimes this can happen quite suddenly, although more often this occurs somewhat gradually. At the same time, they develop repeated and compulsive hand movements which are completely outside their control.

        *If you suspect that your child is displaying characteristics of Rett Syndrome, don't wait - talk to your doctor. Doctors clinically diagnose by observing signs and symptoms and a genetic test (for MECP2 mutation) is available to complement the clinical diagnosis.

        Our research impact

        The work of our researchers has had an enormous impact on the clinical understanding of Rett syndrome here in Australia and world-wide. This is because we have the only ongoing population-based study as well as an international database for this disorder.  

        • And so we have been the first to report on comprehensive descriptions of many of the comorbidities or other medical problems that affect girls and women with Rett syndrome over time, such as feeding and growth, epilepsy, bone fractures and sleep disorders.
        • We have also developed guidelines to assist clinicians and families in management of some of these conditions-in particular for scoliosis (curvature of the spine), growth and feeding problems and bone health.
        • We have also identified factors which affect the likelihood of the diagnosis being made or missed which is very important for clinical practice.
        • We have investigated life expectancy-an important question often asked by families
        • We were the first to describe the marked variation in Rett syndrome associated with the type of genetic mutation-again important information for clinical practice.
        • In 2016 we were invited to write a review on Rett syndrome in the prestigious journal Nature Reviews Neurology and in 2017 the book on Rett syndrome to which we have made a major contribution, is being published.
        Learn more: Rett syndrome subsite

        Rett syndrome: A family's perspective

        video

        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.

        Imagine your baby girl is developing normally, then suddenly she starts losing skills.

        She can no longer throw. She can’t grab. She stops talking.

        That's what happened to Rebecca & John's little girl Marlee, who has Rett syndrome.

        Watch Marlee's story and find out what Telethon Kids Institute researchers are doing to help. 

        Rett syndrome: A researcher's perspective

        Associate Professor Helen Leonard: Co-Head, Child Disability

        Associate Professor Helen Leonard

        I first heard about Rett syndrome when I was working as a medical doctor specializing in the care and management of children with intellectual disability.

        The senior doctor in my department had just returned from a conference in Vienna which was one of the very first to focus on this condition.

        It seemed to me such a strange disorder because it affected these usually beautiful-looking girls who were developing normally and then suddenly for no reason started to regress and lose their skills.

        At that time, although a practicing medical doctor I was developing an interest in public health and epidemiology and whilst caring for patients with rare syndromes, many without names.

        I saw the need to find a way to increase knowledge, awareness and better management for such rare conditions by collecting data both nationally and internationally on individuals with such disorders.

        And this was really how the Australian Rett Syndrome Database, AussieRett and later, the International Rett Syndrome Database, InterRett came to be born!  

        View Professor Helen Leonard's profile

        Rett Syndrome teams

        Research subsite

        Rett syndrome and related disorders

        Visit the site
        Mailing list

        Be Inspired

        Join thousands of active subscribers and hear about the brave kids, dedicated researchers, and world-leading science at Telethon Kids Institute.





        Lead Source:

        We guarantee 100% privacy. Your information will not be shared.