Fragile X Monday May 29 th , 2017 S Introduction S Round table - - - PowerPoint PPT Presentation

S Scientific Advisory Board Fragile X

Monday May 29th, 2017

Introduction

S Round table - intro S Simply using your native language S Feel free to intervene at all time – this is your meeting

Agenda

S Survey on quality of specialized education in FWB - follow up and next

steps

S IQ S Intellectual disability vs. mental disorder S Awareness campaign – postcard/posters for medical emergency services S Awareness campaign – refresh vade-mecum on Fragile X S Ongoing research & clinical trials – round table S Advisory report 9240 on carrier screening S Vitamin C & E S Metformine S AOB - Update from our association, structure & new LinkedIn page S AOB - Knowledge management with Mendeley (or equivalent)

Quality of specialized education in FWB

S Initiated by XFB and then in collaboration with more parent

associations (not just for FX)

S Internet-based, sent to a target group (intellectual disability),

anonymous, mostly multiple-choice (easier analysis)

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

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

S Child abuse evaluation S Follow up and next steps

IQ

S Round table and guidance for parents and professionals on its use

and relevance

Intellectual disability vs. mental disorder

S Which references to use when they are confused S Fragile X and Psychiatry

Awareness campaigns

S postcard/posters for medical emergency services S refresh vade-mecum on Fragile X

Ongoing Research & Clinical Trial

S Berry-Kravis (Rush University)

S

antagoniste des récepteurs mGluR5 (appelé AFQ056)

S

Children age 3 – 6

S

May 2017 S Steve Majerus/Sophie Huckert (Liège University)

S

Improve learning capabilities and attention

S

Children age 5 – 25

S

April 2017 S Other research

Advisory report 9240 on carrier screening

S Superior Health Council – March 2017 S http://www.health.belgium.be/fr/avis-9240-depistage-genetique

Vitamin C & E

S http://www.trialsjournal.com/imedia/1726005310131504_manuscript.

pdf

S Interview with Yolanda De Diego Otero (March 2017) S A combination of Ascorbic acid and Alpha-tocopherol to test the

effectiveness and safety in the Fragile X syndrome: study protocol for a phase II randomized placebo-controlled trial

S 10 mg/kg/day of both Vitamins

Metmorfine

S http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.4335.html?

WT.feed_name=subjects_genetics

S http://neurosciencenews.com/diabetes-drug-fragile-x-6675/ S Diabetes drug

Update from our association, structure & new LinkedIn page

S https://www.linkedin.com/company-beta/17926516/

Knowledge management with Mendeley (or equivalent)

S Reference manager software

Knowledge management with Mendeley (or equivalent)

S Do you think it would be a useful action to manage scientific

documents for the SAB this way?

S Do you already use a reference manager? Which one? S Next steps:

S

Compare de different softwares (Mendeley, Quiqqa, Endnote, Zotero, …): cost for online account and storage size

S

https://en.wikipedia.org/wiki/Comparison_of_reference_management_software S

Alternative: dropbox/google drive + xls list

X’Presse – Special ‘intellectual disability’

S

Latest News to share?

Round table

S

Thank you!

Your personal commitment makes the difference and gives hope to families

Association X fragile Belgique asbl

S Website: www.x-fragile.be S Facebook: https://www.facebook.com/AssociationXFragileBelgique S Linkedin: https://www.linkedin.com/company-beta/17926516/ S Contacts for SAB:

François Rycx – francois.rycx@bt.com – 0496 57 35 19 Bart Bleys – bbleys@hotmail.com – 0489 87 67 19

Werkgroep Fragiel X

S Website:

www.fragiel.be