Rett syndrome

Introduction

At the Zahrádka Primary School, we have experience working with eight girls with Rett syndrome (RTT, including its atypical form) and with Angelman syndrome. Considering the rare occurrence of this diagnosis in the general population, this is a large number.

This has given us the opportunity to learn how to teach girls with RTT, how to communicate with them and how to find effective forms of support.

How to play meaningfully, how to play with the senses… and how to think.

What is Rett syndrome?

Rett syndrome (RTT) is a neurodevelopmental disorder most frequently caused by a genetic mutation of the MECP2 gene on the X chromosome. It almost exclusively afflicts girls, and occurs in about 1:10 000 of the population – roughly the same as the ratio of four-leaf clovers to three-leaf clovers found in nature.

RTT was first described by Austrian physician Andreas Rett in the 1960s, and its cause (the genetic mutation responsible) was discovered several decades later in Great Britain. Much genetic and other research has been conducted since then around the world, and the disease’s diagnostic criteria have been revised. In the Czech Republic, RTT is little known among both experts and the general public, which has had a negative impact on girls with the illness and their parents – many patients are still misdiagnosed with other illnesses, such as cerebral palsy or autism.

RTT (classic RTT and atypical RTT, as well as Angelman syndrome, which has similar symptoms) is extremely underdiagnosed in the Czech Republic. Based on the statistics, we assume that around 240 to 540 women and girls have RTT, but there are only 60 registered cases. It is estimated that 6 to 10 girls are born with RTT in our country every year.

 

How can I recognize Rett syndrome? What should I do if I suspect my child has Rett syndrome?

After initially developing normally, a child with RTT begins to show symptoms between the sixth and twelfth months of its life. Symptoms include a gradual worsening of fine and gross motor skills and communications skills. The growth of the head begins to slow and the child becomes less interested in its surroundings. A common symptom is the rubbing of hands (“hand-washing” movements), as are seizures, irregular breathing, and changes in muscular tension.

A neurologist or pediatrician should be familiar with the latest, precisely revised diagnostic criteria. If you suspect RTT, it is best to turn to a physician. A diagnosis can be confirmed via a genetic test, which is available in the Czech Republic (2nd Medical Faculty, Ke Karlovu, Prague 2).

Why is it important to properly diagnose Rett syndrome at an early age?

Although every girl with RTT is unique, from our experience we know that girls with RTT share many similar factors, which also reflects their specific needs:1. Most girls with RTT develop the same ...
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Where can I learn more?

www.rett-cz.com – Rett Community brings together parents of girls with Rett syndrome in the Czech Republic. On the group’s website, members share their experiences (health, nutrition, etc.) and inform each other about news from abroad (international conferences on Rett syndrome in Paris and Maastricht). The group also organizes assisted summer holidays for families. The website features links to other resources.

http://www.vzacna-onemocneni.cz/ – Czech Association for Rare Diseases

www.svp-vzacnaonemocneni.cz – Contains information on Rett syndrome – methodology, education, care.

www.zszahradka.cz – Once or twice a year, the Zahrádka Primary School organizes gatherings of parents and friends of girls RTT.  

Many websites and other sources of information on Rett syndrome, including scientific studies, can be found in English. You will find Rett syndrome institutes in most European countries, the oldest being in Great Britain. Research into RTT is being conducted in Australia, the United States, Scotland, and other countries. In recent years, many new approaches to teaching girls with RTT have appeared (especially in the USA – Rett University). Once every few years, an international conference is held on RTT (Paris 2010, Maastricht 2013).

Long-term studies have shown how we can expect girls with RTT to develop with age, and have explored questions related to health, the possibilities of augmentative and alternative communication, ways of teaching girls with RTT, and the possibilities of diagnosing RTT by observing subtle changes in the behavior of infants and toddlers.


Publication on Rett syndrome

Publication on Rett syndrome Dear Friends,

we would like to offer you our publication on Rett syndrome, which we put together on the basis of our experiences from ...
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A mother’s view

A mother’s view I’ll skip the period when we first learned the diagnosis and the long journey that we have completed since then. I want to share a little victory with you.
From my ...
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Spring gathering – 22 April 2016

Spring gathering – 22 April 2016

On 22 April 2016, our school hosted the regular spring meeting of parents and friends of girls with Rett Syndrome. The subject this time was ergotherapy. Our colleague Růžena Kroupová from the Zahrada Integration Center provided an overview of the areas she focuses on in ergotherapy, and also presented brief practical demonstrations.

PICTURES


Rett Community meeting of parents and friends

Rett Community meeting of parents and friends

Physical therapy for girls with Rett Syndrome continues to be a much discussed topic. During our meeting on Friday, 20 November 2015, we and our guests heard a lecture by physical therapist Marcela Wadowská from the Zahrada Integration Center, who had been invited by the parents from the Rett Community to discuss this subject. The afternoon program also included short hands-on demonstrations with our young pupils Evička and Kačenka. At the end, there was room for questions. Thanks you, Marcela, for sharing your extensive professional experience. We wish all families much joy during the upcoming Christmas season…

20. 11. 2015

PICTURES

For more information on the meeting, visit the Rett Community website HERE.

 


Experience from Finland

On Wednesday 25 March 2015, we welcomed a special visitor to our school – Mrs. Marjo Lamminen from Finland. This smiling mother of a girl with Rett syndrome had previously visited us with her daughter in June 2013 in order to compare her experiences and methods with ours. During this year’s visit, which was organized in cooperation with the Rett Community, we saw a video of working with the Tobii eye-controller for computers. Mrs. Lamminen showed us how her daughter can not only play computer games but also successfully communicate using her eyes to control a computer. She also shared some interesting information on the Tobii’s availability in Finland, and recommended programs that she and her daughter had found useful. For parents who already have experience with this aid, it was an opportunity to compare the situation here with that abroad; for others, it was an amazing inspiration. Mrs. Lamminen captivated many of the mothers and teachers and confirmed our conviction that Tobii has a place in special educational practice. Thank you for the pleasant and stimulating get-together!


Gathering of parents and friends of girls with Rett syndrome at the Zahrádka Primary School in September 2014

After a longer break, in late September we again held a meeting for parents of girls with RTT. Several regular attendees couldn’t make it this time (Evička Boušová with her parents, and the ...
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Gathering of parents and friends of girls with Rett syndrome

Gathering of parents and friends of girls with Rett syndrome

As is practically tradition, the meeting was held after a longer break, and so the participants’ enthusiasm was all the greater. We first listened to a presentation about the Tobii computer, after which we talked about ourselves, our expectations. and the experiences we would like share with each other. Tonička and Evička were in the care of our volunteers Marie, Aneta, Gabriela and Lucie.

Thank you.

On 1 April 2014, several teachers met for a talk with Lenka Kohoutková, a long-time assistant for a girl with Rett syndrome and a board member of the Rett Community civic association. She gave us a vibrant description of her experiences from a Dutch workshop at the international Rett syndrome conference. We discussed the use of the Big Mac switch at schools in Israel and the Netherlands, forms of communication, and ideas for school activities for girls with RTT. The meeting was pleasant and inspirational, and we are looking forward to working together in the future.

M. Tupá



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