Scientific studies

Stay informed and participate

We are fortunate to have scientific research teams interested in Koolen De Vries syndrome. In addition, they all highlight the fact that, for the moment, the best specialists in the disease are us, the families.

For the interest of these teams for our children to continue, we must therefore give them material to study and participate in their studies by providing them with the data they need.

Admittedly, the results of this research may not benefit our children directly since these studies can last several years, but they will certainly allow the Kool kids of tomorrow to have appropriate answers and perhaps even treatments adapted to certain symptoms. or who knows, one day, to the syndrome.

A word of advice, don't put it off until tomorrow, the younger your Kool Kid, the less time you spend there.

As the searches are carried out internationally, the majority of the documents are in English, if you need help, contact: sabine.beaulieu@koolendevriesfrance.org

Thank you, if you have not already done so, to start with the completeness of the GenIDA questionnaire because researchers around the world first use this database to guide their research subjects. This is why a page of this site is dedicated to them: 

Scientific study on language

Professor Angela Morgan in Melbourne, Australia, is still looking for Kool kids to carry out her study on language in Koolen de Vries syndrome.  

Objective: to study speech and language over time in order to help researchers better understand their evolutions in order to be able to develop targeted language therapies.

To participate :

  • Being a carrier of Koolen-de Vries syndrome confirmed by a genetic test

  • Be at least 6 months old (adults welcome)

  • To be spoken or not

  • speak English, German, Dutch, Italian, French, Portuguese or Spanish


Interested?

Send an email to:  speechtracker@mcri.edu.au

 

Project approved by the Royal Childrens Hospital Human Research Ethics Committee.

Some of the documents and questionnaires are in French.

Etude Langage.png

Pictures to help with the diagnosis

During the first appointment with your geneticist, he may have taken photos of your Kool kid in order to share them with other professionals during conferences.

It is thanks to these photos that, before having had the results of the samples, you were able to have the evocation of the right syndrome during your appointment.

To help with the diagnosis, choose front or side portrait photos of your Kool kid at all ages from your personal archives then click on this link:

Australia's FaceMatch project uses face-matching computer technology to help find a diagnosis for children with intellectual disabilities (ID) for whom genetic testing has not provided an answer.

As we know, the lead up to diagnosis is one of the most challenging times in our children's journeys and we hope that including families like yours with a known diagnosis can help families who are still looking of a diagnosis.
 
People with the same genetic condition can often share similar facial features. By matching facial images and written descriptions of undiagnosed children and adults around the world, the project aims to provide genetic diagnosis to children at an earlier age, help more families find a diagnosis and discover new identification genes.
 
The FaceMatch project includes an early diagnosis study of Koolen-de Vries syndrome to determine if facial images can aid in the early diagnosis of Koolen-de Vries syndrome at 12 months of age. We invite you to consider helping us with this project by contributing photographs of your family members with Koolen-de Vries syndrome to the secure FaceMatch image database. Each image helps improve the FaceMatch program's ability to recognize certain facial features and syndromes.
 
If you would like more information, please contact Genetic Counselor Jackie Boyle or Project Manager Dr Tracy Dudding-Byth: 

info@FaceMatch.org.au

Scientific study on language

Professor Angela Morgan is looking for Kool kids to carry out her study on language in Koolen de Vries syndrome.  

Objective: to study speech and language over time in order to help researchers better understand their evolutions in order to be able to develop targeted language therapies.

To participate :

  • Being a carrier of Koolen-de Vries syndrome confirmed by a genetic test

  • Be at least 6 months old (adults welcome)

  • To be spoken or not

  • speak English, German, Dutch, Italian, French, Portuguese or Spanish


Interested?

Send an email to:  speechtracker@mcri.edu.au

 

Project approved by the Royal Childrens Hospital Human Research Ethics Committee.

logo koolen de vries france_edited.jpg

Scientific study on language

Professor Angela Morgan is looking for Kool kids to carry out her study on language in Koolen de Vries syndrome.  

Objective: to study speech and language over time in order to help researchers better understand their evolutions in order to be able to develop targeted language therapies.

To participate :

  • Being a carrier of Koolen-de Vries syndrome confirmed by a genetic test

  • Be at least 6 months old (adults welcome)

  • To be spoken or not

  • speak English, German, Dutch, Italian, French, Portuguese or Spanish


Interested?

Send an email to:  speechtracker@mcri.edu.au

 

Project approved by the Royal Childrens Hospital Human Research Ethics Committee.

Médicaments d'ordonnance

Scientific study on language

Access the questionnaire here:

https://docs.google.com/forms/d/e/1FAIpQLSfkxvoGBwypRSWBL1XonU6Kj632OmxndbKACZu7OLsqtE9eQw/viewform

Transmission of scanned documents to Daphna directly by email to:

LandauPrat.Daphna@sheba.health.gov.il  

or to GenIDA in French if you prefer, Pauline Burger will then forward to Daphna:

burgerp@igbmc.fr

Professor Angela Morgan is looking for Kool kids to carry out her study on language in Koolen de Vries syndrome.  

Objective: to study speech and language over time in order to help researchers better understand their evolutions in order to be able to develop targeted language therapies.

To participate :

  • Being a carrier of Koolen-de Vries syndrome confirmed by a genetic test

  • Be at least 6 months old (adults welcome)

  • To be spoken or not

  • speak English, German, Dutch, Italian, French, Portuguese or Spanish


Interested?

Send an email to:  speechtracker@mcri.edu.au

 

Project approved by the Royal Childrens Hospital Human Research Ethics Committee.

Affichage de lunettes

the vision study has been closed since January 2022.

The first results will be presented in the form of a poster at the next ophthalmology congress in Israel. 

Scientific study on language

Professor Angela Morgan is looking for Kool kids to carry out her study on language in Koolen de Vries syndrome.  

Objective: to study speech and language over time in order to help researchers better understand their evolutions in order to be able to develop targeted language therapies.

To participate :

  • Being a carrier of Koolen-de Vries syndrome confirmed by a genetic test

  • Be at least 6 months old (adults welcome)

  • To be spoken or not

  • speak English, German, Dutch, Italian, French, Portuguese or Spanish


Interested?

Send an email to:  speechtracker@mcri.edu.au

 

Project approved by the Royal Childrens Hospital Human Research Ethics Committee.

Image de Inge Poelman