Impact d’un protocole en activités physiques adaptées chez des patients lombalgiques chroniques en restauration fonctionnelle du rachis

Objectif– Évaluer l’impact d’un protocole d’activités physiques adaptées (APA) sur les capacités musculaires et cardiovasculaires de patients bénéficiant d’un programme de restauration fonctionnelle du rachis. Matériel et méthode – L’étude a été menée sur 98 patients (33 femmes et 65 hommes). Nous évaluons l’impact de la prise en charge en APA sur la force musculaire et l’endurance cardiovasculaire. Résultats – Nous observons une amélioration significative de la force musculaire et des capacités cardiovasculaires chez les femmes et les hommes. Discussion – L’impact observé sur les fonctions musculaires et cardiovasculaires lors de la prise en charge en APA semble influencer positivement la qualité de vie. Cette étude demande à être approfondie en faisant appel à un groupe contrôle

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development

Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene. Next-generation sequencing (NGS) now enables unbiased diagnostics. Through the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, we gathered data from patients with heterozygous FOXG1 variants presenting a mild phenotype, defined as able to speak and walk independently. We also reviewed data from three previously reported patients meeting our criteria. We identified five new patients with pathogenic FOXG1 missense variants, primarily in the forkhead domain, showing varying nonspecific intellectual disability and developmental delay. These features are not typical of congenital Rett syndrome and were rarely associated with microcephaly and epilepsy. Our findings are consistent with a previous genotype-phenotype analysis by Mitter et al. suggesting the delineation of five different FOXG1 genotype groups. Milder phenotypes were associated with missense variants in the forkhead domain. This information may facilitate prognostic assessments in children carrying a FOXG1 variant and improve the interpretation of new variants identified with genomic sequencing