📍 FAMILIES
INFORMATIONS
After the FALC sheet
"I UNDERSTAND MY DIFFERENCE"
( written in Easy to Read and Understand)
CARDS VERSION enters the TEST phase
until the end of June 2024
!! Elements are in French BUT we are working on an english version.For more explanations and to take part of the test, please contact us !
Would you like to get together with other Vaillants families for a picnic or a local outing?
The association can help (FRANCE).
Fill in the form and send it back before the end of April.
(click on the underlined word FORM)
MIEUX CONNAITRE
MIEUX COMPRENDRE
MIEUX ACCOMPAGNER
ORPHA CODE
TND linked to the MYT1L gene
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Orphanet code to be filled in or consulted if you are a physician, health care or social welfare professional...
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Orphanet code to be indicated if you are a caregiver or patient
!! To note :
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Integration with the BNDMR (BaMaRa tool) with the update in fall 2023
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At the end of May 2023, the Orphanet file is under construction
📍 NEWS
Magazine
Extra-Vaillants MYT1L actuality
Click on the image to play the video
To be found on the YouTube channel in video format
MYT1L adapted FALC sheet:
"I understand my transition from paediatric care to adult care: it's the transition in hospital"
In FALC
Practical information
while waiting for the EMERGENCY CARD and SHEET
Click on the image to read it.
Activate the resource links using the underlined words in the document
Explain for a better understanding
Rare Diseases Walk - Telethon 2023
To support the meeting with schoolchildren, we have produced a video explaining the syndrome, its effects, rare diseases and the association.
US VERSION thanks to the help of an american mother.
Even if the picture is in french,
CLICK on the picture, the ressource is in english !
Over twenty of us gathered for the Marche des Maladies Rares 2023 organized by the Alliance des Maladies Rares as part of the Telethon 2023.
Around twenty of us, led by three Vaillantes, representing all the Vaillants from France and beyond. We thought of you!
📍 NOTES
📍👉🏻 In PUBLICATIONS : NEW RELEASES in 2023
MAY
"2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review", Malek Bouassida et al - European Journal of Human Genetics, published on line : may 15, 2023
"Overexpression of OLIG2 and MYT1L Transcription Factors Enhance the Differentiation Potential of Human Mesenchymal Stem Cells into Oligodendrocytes", Ifrah Fahim and al - MDPI, published 7 May 2023
APRIL
"MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brain", Jiayang Chen et al - Genome Research, published on line : April 26, 2023
FEBRUARY
"MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention", Moritz Mall et al - Molecular Psychiatry, Nature, published on line : february 14.
📍👉🏻 In Champions corner
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Find out about events common to all Vaillants
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Read stories from Vaillants and their families
📍👉🏻 In events/actions
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Cross solidaire des écoles du Sacré coeur et de l'Ange gardien de Domfront
The students raised over 9,000 euros for the association Les Extra-vaillants MYT1L, BRAVO !!!! and a thousand thanks!
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Complementary project to describe eating disorders linked to the MYT1L gene
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Collaboration with the teams of Dr Mall Moritz (Germany)
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PRH76: Departmental Thematic Day on EARLY CHILDHOOD AND DISABILITY
(10 sessions focusing on identification, diagnosis and aftercare, tools, practitioners and the role of families)
📍👉🏻 In support points
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Partie 4 TRANSITION WEBSITE RARE DISEASES INFORMATION and SUMMARY SHEET
Information and support in the transition from the PEDIATRIC SECTOR to the ADULT SECTOR. An upheaval for patient and family.
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Partie 4 HANDIGYNÉCO & INTIM AGIRIntimate life of people with disabilities: how to get support?
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Part 3 in RECOMMENDATIONS from the French National Authority for Health
Guides to the healthcare pathway for adults and children with epilepsy, published online on 14 June 2023
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Part 4 Tous pareil, ou presque ALL IN THE SAME OR CLOSE TO IT
The PODCAST (audio) of autism and neurodiversity.
📍 REMINDER
1st International Day Families, Clinicians, Researchers around
the MYT1L gene
We were 99 present at the Rouen University Hospital: children, students, families, professionals, speakers, organizers!
We were nearly 60 connected via ZOOM at the height of the day
We will be even more connected to the Replays soon available
All our sincere, enormous thanks to all the speakers of this incredible day, to the reference center for developmental anomalies of the ROUEN University Hospital, to the AndDI-Rares health sector, to the artists, to the students, to our donors (in kind, skills, financial support).
To you strangers, families, friends, association, agency, company, hotelier, entrepreneurs....
A special thought for Dr Juliette Coursimault, Anne-Marie Guérrot, François Lecoquierre and for Gwendoline Giot.
Here are some images ... many more on our YouTube channel
Thankyou!!!! with all our hearts of parents and valiants!
Find the testimonies of the families on this day in "champion's corner"
Article by the team of the Clinical Genetics Unit of the CHU from Rouen whose Dr Juliette Coursimault, Dr Ann e-Marie Guerrot and Dr François Lecoquierre.
Journal Human Genetics - November 8, 2021
In-depth clinical and biological characterization of the haploinsu isance of the MYT1L gene. Literature review and description of a new cohort of 40 patients
Arcticle from Bettina Weigel, Jana F. Tegethoff, Moritz Mall, and their team, for their important work presenting the “first evidence” that MYT1L mutations alter neuronal cell fate and function, and for demonstrating that a drug commonly used for epilepsy can reverse ASD -associated phenotypes in mice and #electrophysiological abnormalities in vitro. Nature, February 2023
MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
📣 NEW
This study highlights the interesting effect of a molecule called Lamotrigine on the behavior of mice with an anomaly in the MYT1L gene. Please note that therapeutic trials have only been carried out in mice. There are still many steps to know if it could work in humans.
The existence of the drug on the market, its already effective use in neurology and psychiatry are important factors that will save time in the study projects of the passage from mouse to human in order to define the real effectiveness. , necessary dosage and side effects for MYT1L patients.
It is likely that a new study will soon see the light of day, led by Dr. Mall's team. We should know more by summer (feasibility, cschedule, cost, coordination with the geneticists of Rouen and the association...). This opportunity should accelerate the clinical study on the behavioral disorders we have been talking about since the beginning of our collaboration with Dr. Coursimault and Dr. Guerrot.
Global representation of people affected by the syndrome
UP DATE
Information from the families who agreed to transmit the elements to the FB groups "Chromosome 2p25/ MYT1L Family Page" and "Les Extra-Vaillants - MYT1L ".
These data were processed anonymously.
They offer an interesting vision, but much lower than the reality of the diagnoses.
UPDATE FRANCE to NOVEMBER 2023 vs April 2022 :
- X 2 between 2022 and 2023
- X 3.7 between 2021 and 2023
UPDATE INTERNATIONAL APRIL 2022 vs October 2021
- + 40% of patients identified World
- + 51% of patients identified Europe
- + 85% of patients identified France
Find the April 2022 update, and the complete file to October 2021.
