Thinking big to tackle kids’ brain development
22 June 2018
Rett syndrome and Related Disorders
InterRett/MECP2
Participate in InterRett/MECP2 Duplication Research
Find out how to participate in InterRett/MECP2 Duplication Research
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 about Rett Syndrome.
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.
Breathing abnormalities in Rett Syndrome: latest research
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).
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.
Join the conversation
