Rett Syndrome Community

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martacampabadal
moderator

In mice, experimental drug treatment for Rett syndrome suggests the disorder is reversible

A team at Cold Spring Harbor Laboratory (CSHL) has developed a new approach for treating Rett syndrome. In a paper appearing online today in the Journal of Clinical Investigation, Professor Nicholas Tonks, demonstrates that treatment with small-molecule drug candidates significantly extends lifespan in male mice that model Rett syndrome and ameliorates several behavioral symptoms of the disorder in model female mice.

+INFO: http://medicalxpress.com/news/2015-07-mice...

apenas, convulsion

my daughter , with suspect of Sind.Rett started with apnea and convulsions and now with gastrostomy. do you know which complications there will be after?

comenzó con apneas, convulsiones y ahora con gastrostomía, si se sabe con que complicación puede continuar??

Notice: This text content has been translated automatically by a third-party service.

danijelaszili
moderator

With the Rett girls breathing issues can diversify, hiperventilation can also develop, breath holding and airswallowing too.
Dystonia and orthopedic issues like scoliosis, kifosis, feet abnormalities are very often.
How old is your girl? When will you have the results of the genetic testing?

danijelaszili
moderator

4th European Rett Syndrome Congress!

This year AIRETT celebrates its 25th Anniversary and for this occasion and in cooperation with RSE our friends from Italy will organize 4th European Rett Conference. It will be held in Rome, Hotel Barceló Aran Mantegna, on October 30, 31 and 1. of November!
Looking forward to seeing you there!

danijelaszili
moderator

AIRETT and RSE are proud to announce that the registration for the 4th European Congress on Rett syndrome, that will take place in Rome, is now OPEN!

http://www.ptsroma.it/airett2015/

robpleticha
moderator

Also added a link here:
https://www.rareconnect.org/en/community/r...

and shared on social media.

danijelaszili
moderator

Dear All, I am happy to announce that the full programme is now available on:
http://www.airett.it/program/

martacampabadal
moderator

Collaborative study of visual attention to print during storybook reading

There is a research study being conducted in the home using a researcher-provided eye gaze device that may be of interest to you and your family. The study is called, Visual Attention to Print in Children with Rett Syndrome and is being conducted by Appalachian State University and the Center for Literacy and Disability Studies at the University of North Carolina.

To learn more visit:
https://www.rettsyndrome.org/research/non-...

stellapeckary
moderator

Österreichisches Rett-Familienwochenende in Hipping am Attersee 12.-14. Juni 2015

Rett-Familientreffen 2015 | Hipping | 12. – 14. Juni

Unser jährliches Familientreffen findet wie im vergangenen Jahr in Hipping am Attersee statt. Wir werden wieder im Hotel Lohninger sein. Das Treffen beginnt am Freitag, sodass wir genug Zeit für gemeinsame Aktivitäten und Erfahrungsaustausch haben. Die Betreuung unserer Kinder erfolgt wie gewohnt durch erfahrene und bewährte Betreuerinnen und Betreuer. Interessante Themen von "Neues aus der Rett-Welt" von Stella Peckary, bis zu Einfluss von Fußfehlstellung und Sitzverhalten auf die Wirbelsäule
bis zu Steuern und Behinderung - Fragen zu den steuerrechtlichen Möglichkeiten für Behinderte. Auch ein gemeinsamer Ausflug nach St. Georgen ist geplant. Abgerundet wird das Programm durch ein Gitarrenkonzert am Samstag Abend. Programm:
http://www.rett-syndrom.at/files/Rett-Fami...

thomasbertrandrett
moderator

Are eye-tracking and other AAC solutions popular in your country?

Hi all,

I am preparing a quick survey on how AAC (Augmentative and Alternative Communication) systems are used in European countries.

The questions are the following:
1/ have you ever tried Eye-tracking systems? Did it work with your child. Is is often used in your country? Is it reimbursed by your health system? Are schools or special needs schools equipped?

2/ Appart from eye-tracking systems, are you using other AAC tools?

I guess there will be people in each country who have tried things but I also would like to have the general idea, if the majority of families have access or tried it not only a few numbers of parents with Rett children.

Many thanks!

- Thomas (Rett Syndrome Europe)

Hi Thomas!

The situation in the Czech Rep. is as follows:

1/ have you ever tried Eye-tracking systems? Did it work with your child.

Yes, we have been using the TOBII for 9 months. It works very well.
We have the TOBII “PCEye GO” + SW “Look To Learn” and “GRID2”.

Is it often used in your country?
Not yet, but the number of the users has been growing steadily since 2014 when we purchased one of the early units here in CZ.

Is it reimbursed by your health system?
The social system reimburses 90% of the cost (TOBII + software + monitor bracket) excl. the PC (laptop, tablet).
Are schools or special needs schools equipped?
Not yet.

2/ Apart from eye-tracking systems, are you using other AAC tools?

Some of the girls are able to use their hands for playing with touchscreens (= variety of the “tablet” apps).

Cheers,

Vratislav

www.rettsyndrome.cz
http://rett.cz/vzdelavani-a-komunikace/

thomasjohnston
moderator

National Health Service England Consultation response

When new treatments and services are found to be effective for any particular condition, NHS England has a process for working out whether they will pay for them and make them available on the NHS. They have been running a consultation with the public. Read more here:

http://www.reverserett.org.uk/news/nhs-eng...