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ActivRett Survey from Telethon Kids Institute

Please take a moment for the ActivRett Survey from Telethon Kids Institute. Share your experiences in your daughter’s standing and walking activities. Your participation helps us understand what activities work, don’t work, are fun, and which activities enhance their quality of life. Your response helps us plan programs that focus on increasing physical activity, and […]

Study about Males with Rett Syndrome

Dr Tim Benke, Medical Director of the Rett Center of Excellence at Colorado Children’s Hospital is the lead Principal Investigator in a study that is seeking to understand the lived experience of Males with Rett syndrome via their parent report. He would love to have responses from parents in Europe COMIRB: 23-0075PI: Dr. Tim BenkeV. […]

The Burden of Illness Study in Rett Syndrome

Following our Network Support and Research Event we would like to share a video of Walter Kaufmann presentation “Burden of Illness in Rett Syndrome: Initial Evaluation of a Disorder-Specific Caregiver Survey”. In this talk, Walter Kaufmann will present an overview of the Burden of Illness in Rett Syndrome survey. Previous studies have shown that individuals […]


The team at Telethon Kids in Australia led by Dr Jenny Downs have developed a new online resource to help families and carers support people with Rett syndrome to live more physically active lives. They are inviting family members and carers anywhere in the world to look at the ActiveRett web page and evaluate it […]

Research Papers

We are happy to share this section as a joint effort of our Scientific Advisory Board to bring the latest scientific knowledge closer to human language. Thus, for every article shared here you will find a short and simple lay summary, provided either by the authors of the articles, or some short reviews by our […]

Key Research Papers

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome Gillian S. Townend, Theresa E. Bartolotta, Anna Urbanowicz, Helena Wandin and Leopold M.G. Curfs Lay summary This paper describes how the Rett Syndrome Communication Guidelines were developed.Difficulties with communication have a profound impact on the lives of children and adults with Rett syndrome […]

Gillian Townend, MRCSLT, PhD

I have been a researcher at the Rett Expertise Centre Netherlands since 2013, and from 2018 have also been project lead for Rett UK’s Communication and Education Support.   I am a Speech and Language Therapist (SLT) with longstanding clinical and research experience, particularly in the field of Augmentative and Alternative Communication (AAC). In 2019 I was awarded a PhD by the University of Maastricht, for a thesis entitled: Rett […]

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