Fragile X Monday November 27th, 2017 www-x-fragile.be Agenda - - PowerPoint PPT Presentation

Scientific Advisory Board Fragile X

Monday November 27th, 2017

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Agenda

• Debrief from annual European Fragile X Network (EFXN) meeting/conference
• Ongoing research & clinical trials – round table
• Supporting framework for the most vulnerable Fragile X patients
• Brainstorming on key topics for out planned 2018 Fragile X conference in

Belgium

• Survey on quality of specialized education in FWB - follow up and next steps
• Awareness campaign – postcard/posters for medical emergency services, refresh

vade-mecum on Fragile X

• Knowledge management – database – Mendeley
• Fragile X Clinical & Research Consortium International – FXCRC Membership

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Annual European Fragile X Network (EFXN) meeting/conference

• 3 – 4 November 2017
• Nyon, Switzerland

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Ongoing Research & Clinical Trial

• 18th International Fragile X and Related Neurodevelopmental Disorders

Workshop, October 12-18, 2017, Saint-Alexis-des-Monts, Quebec, Canada

• Université de Washington (St. Louis) - inhibiteur sélectif de PDE4D
• https://www.santelog.com/actualites/autisme-x-fragile-un-nouveau-traitement-prometteur-

sur-les-symptomes

• CRISPR-CAS9 in the news
• www-x-fragile.be

Supporting framework for the most vulnerable Fragile X patients

• Fragile X in prison – real life case and discussion on how professionals

can help

• For individuals in institutions, who ultimately decides on treatment (cases
• f Fragile X patent with ~10 different medicine), what alternative / appeal

exist ?

• For individuals in institutions, role of psychiatry vs. neurology?

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Quality of specialized education in FWB

• Initiated by XFB (but not just for FX)
• Internet-based, sent to a target group (intellectual disability), anonymous, mostly

multiple-choice (easier analysis)

• Background questions incl. age, school history
• Facts and satisfaction on School, PIA, Bulletin, CPMS, speech therapist & OT

support, afterschool-care, lunch, school trips, transport

• Child abuse evaluation
• follow up and next steps

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Knowledge management with Mendeley

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• Do you think it would be a useful action to

manage scientific documents for the SAB this way?

• Next steps:
• Invite interested persons to private group (after installing

Mendeley)

• Evaluate wether it us usefull or overkill
• Alternative: dropbox/google drive + xls list

Private Group Reference Manager Software

Fragile X Clinical & Research Consortium (FXCRC) International Membership

• Goals: It is a founding precept that the FXCRC be flexible in its definition
• f what constitutes a Fragile X clinic. The FXCRC’s goals are:
• To ensure that comprehensive evaluation and clinically appropriate

treatment, or treatment recommendations, are available within a reasonable geographic distance for all families, and

• To advance the pace of research, especially translational research, by

engaging families from all member clinics.

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X’Presse – Special ‘intellectual disability’

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Association X fragile Belgique asbl

• Website:

www.x-fragile.be

• Facebook:

https://www.facebook.com/AssociationXFragileBelgique

• Linkedin:
• https://www.linkedin.com/company-beta/17926516/
• Contacts for SAB:
• François Rycx – francois.rycx@bt.com – 0496 57 35 19
• Bart Bleys – bbleys@hotmail.com – 0489 87 67 19

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Thank you!

Your personal commitment makes the difference and gives hope to families