La 31ième conférence de la European Academy of Childhood Disability (EACD) se tiendra à Paris-La Cité des Sciences du 23 au 25 mai 2019. Il s’agit du plus grand événement européen et d’un des plus grands événements internationaux autour de l’enfant en situation de handicap !
Pour la première fois, BRAIN-TEAM ainsi que trois autres Filières de Santé Maladies Rares que sont Défiscience, Filnemus et G2M vont y animer un mini symposium qui s’intitulera « The contribution of four French Rare Diseases Networks to improve diagnosis, research and care in Rare Diseases with neurodevelopmental, neurological, inherited metabolic and/or muscular manifestations.”
Nous vous donnons donc rendez-vous le Jeudi 23 mai à 11h30 pour notre symposium qui sera animé par :
– DES PORTES (Vincent Hôpital Femme-Mère-Enfant – Lyon) de la filière DéfiScience
– WEIGHT Emilie (Association Fragile X France) de la filière DéfiScience
– DESGUERRE Isabelle (Hôpital Necker – Enfants Malades – Paris) de la Filière Filnemus
– DEMILY Caroline (Hôpital le Vinatier – Lyon) de la filière DéfiScience
– McGOVERN Eavan (Hôpital Pitié-Salpêtrière – Paris) de la filière BRAIN-TEAM
– SCHIFF Manuel (Hôpital Robert-Debré – Paris) de la filière G2M
RESUME DU SYMPOSIUM
The 2nd French Plan for Rare Diseases (RD) launched in 2011 led to the creation of 23 Networks of Excellence for RD, four of which, namely BRAINTEAM, G2M, DéfiScience and Filnemus, being devoted to neurodevelopmental, neurological, inherited metabolic and neuromuscular conditions. A significant number of these disorders is responsible for severe disabilities in children. The combat to curb diagnostic odysseys remains crucial: although less critical than in adults, the search for an accurate diagnosis in children is often a long, painful, sometimes endless, process. This quest matters much in terms of genetic counselling, customized care and therapies. The advent of next-generation sequencing (NGS) and CGH-array has revolutionized the field and eased the clinicians’ work substantially. The “JUMP” initiative is a good example of a multidisciplinary, transitional approach in young adults with a variety of chronic neurological conditions. Patients are seen by various JUMP team members in either the day hospital or outpatient setting. Additional activities include therapeutic education, art therapy, yoga and cookery workshops. A majority of patients (89%) and parents (91%) were very satisfied. On another note, cognitive remediation and social training strategies have been developed since recently in order to enhance cognitive and social deficits associated with behavioural disorders and rare diseases (Reference Center GénoPsy). Access to innovative therapies is a reality not only for inborn errors of metabolism but also for some neuromuscular disorders. Nonetheless, a lot remains to be achieved to improve efficacy. Gene and mRNA therapies and new generation enzyme replacement therapies look encouraging.
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