Quels sont les facteurs environnementaux à prendre en compte pour améliorer le vécu de l'hospitalisation d'une personne en situation de handicap communicationnel ?: travail de Bachelor

Thème : Notre recherche aborde les facteurs environnementaux qui influencent l’hospitalisation d’une personne en situation de handicap présentant un trouble de la communication. Contenus : Après un point de situation sur le handicap et sur la communication, nous analyserons notre thématique sous l’angle du modèle théorique de Callista Roy. Puis, nous traiterons par thème notre recension des écrits. Pour finir, nous tenterons d’émettre des recommandations pour la pratique infirmière. Discussion : L’évolution des concepts du handicap (médical à social) et des classifications internationales du handicap montrent une envie de réintroduire la population en situation de handicap dans la société en déplaçant le problème sur l’environnement inadéquat. Il est nécessaire que la discipline infirmière suive cette évolution en passant d’un modèle comportementaliste à une approche systémique

Genetic spectrum of hereditary neuropathies with onset in the first year of life

Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are known to be a typical cause of very early onset hereditary neuropathies. In addition, mutations in several other dominant and recessive genes for Charcot-Marie-Tooth disease may lead to similar phenotypes. To estimate mutation frequencies and to gain detailed insights into the genetic and phenotypic heterogeneity of early onset hereditary neuropathies, we selected a heterogeneous cohort of 77 unrelated patients who presented with symptoms of peripheral neuropathy within the first year of life. The majority of these patients were isolated in their family. We performed systematic mutation screening by means of direct sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot-Marie-Tooth type 1A duplication on chromosome 17p11.2-12 was performed. In 35 patients (45%), mutations were identified. Mutations in MPZ, PMP22 and EGR2 were found most frequently in patients presenting with early hypotonia and breathing difficulties. The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period. Several patients displaying congenital foot deformities but an otherwise normal early development carried the Charcot-Marie-Tooth type 1A duplication. This study clearly illustrates the genetic heterogeneity underlying hereditary neuropathies with infantile onset