«Abstract Vitamin A deficiency (VAD) can manifest as xerophthalmia, a spectrum of eye conditions ranging from night blindness to severe outcomes like keratomalacia and corneal scarring.We report two cases of a seven-year-old girl and a 13-year-old boy in Japan with xerophthalmia caused by VAD associated with autism spectrum disorder (ASD). The first case demonstrates severe complications of prolonged VAD, including optic disc edema and irreversible corneal damage, which then results in blindness. The second case identified and treated earlier in the stage of corneal xerosis shows favorable prognosis. These two cases illustrate the risk of VAD among children with ASD and the importance of timely intervention to prevent permanent vision loss.Because of the prevalence of ASD, awareness of VAD as a potential health problem needs to be raised. Early detection, proper treatment, and dietary guidance are crucial in managing VAD. Ophthalmologists must be vigilant for signs of VAD in children with ASD, including difficulty opening eyelids, to prevent irreversible visual loss.»...

«In a comprehensive Genomic Press Interview, researchers from the University of Texas Health Science Center at San Antonio and Hirosaki University have uncovered critical new insights into the developmental trajectory of social behaviors in fragile X syndrome, the leading genetic cause of autism spectrum disorder.The study, published in Genomic Psychiatry, demonstrates that treating pregnant mice with bumetanide - a drug that regulates chloride levels in neurons - can restore normal neonatal social communication patterns in newborn pups carrying the fragile X mutation. However, the same treatment unexpectedly reduced post-pubertal social interaction in both normal and fragile X mice.»...

«Adding genetic testing to the evaluation of pediatric patients with neurodevelopmental disorders (NDD) resulted in more individualized care, including changes in medication, referrals to clinical trials or specialists, and surveillance for potential medical issues, according to a new UCLA Health study.»...

«Dans l'étude publiée aujourd'hui, des chercheurs de l'Hospital for Sick Children (SickKids) au Canada et de l'Istituto Giannina Gaslini en Italie ont testé cliniquement 10 personnes atteintes de TSA provenant de 8 familles différentes et ont découvert que des variantes dans le DDX53 Le gène était hérité de la mère et présent chez ces individus. Notamment, la majorité étaient des hommes, soulignant le rôle potentiel du gène dans la prédominance masculine observée dans les TSA.« En repérant DDX53 en tant qu'acteur clé, en particulier chez les hommes, nous pouvons mieux comprendre les mécanismes biologiques en jeu et améliorer l'exactitude du diagnostic pour les individus et leurs familles », déclare le Dr Stephen Scherer, auteur principal, scientifique principal, génétique et biologie du génome et chef de la recherche à SickKids. et directeur du McLaughlin Centre de l'Université de Toronto.»...

«Abstract ObjectiveTo investigate the efficacy of physical activity as a crucial intervention for Autism spectrum disorder (ASD) in clinical settings, we conducted a network meta-analysis to evaluate the effect of various exercise interventions on sociability and communication in individuals with ASD. Our aim was to identify the exercise modalities most conducive to enhancing these essential skills.»
[...]
«Conclusion Physical exercise plays a significant role in alleviating symptoms and enhancing sociability and communication in individuals with ASD. Our findings highlight that sports games, combination therapy, team ball sports, and outdoor exercise are particularly effective in improving sociability. In terms of communication skills, combination therapy, sports games, team ball sports, outdoor exercise, and mind-body exercise demonstrated the most substantial benefits. These results provide a robust foundation for future interventions aimed at improving the quality of life for individuals with ASD »...

«Appels ouverts Représentants des associations de patients et des cliniciens: Réouverture de l'appel à manifestation d'intérêt pour le comité des thérapies innovantes de l'EMA (EMA CAT)  La Commission rouvre la procédure de sélection des représentants des associations de patients et des cliniciens au sein du comité des thérapies innovantes de l'Agence européenne des médicaments, initialement lancée le 12 aout 2024. Cette réouverture est nécessaire car le nombre de candidats éligibles à la suite de l'évaluation initiale était insuffisant pour pourvoir les postes disponibles. Veuillez noter que les conditions de l'appel initial restent inchangées. Les candidats qui ont déjà postulé seront considérés sans qu'il soit nécessaire de les soumettre à nouveau. Pour plus de détails, veuillez vous référer au point 7 de l'appel à manifestation d'intérêt.»...

«If you've heard of two of the brain's chemical neurotransmitters, it's probably dopamine and serotonin. Never mind that glutamate and GABA do most of the work -; it's the thrill of dopamine as the "pleasure chemical" and serotonin as tender mood-stabilizer that attract all the headlines. Of course, the headlines mostly get it wrong. Dopamine's role in shaping behavior goes way beyond simple concepts like "pleasure" or even "reward". And the fact that it takes weeks or months for serotonin-boosting SSRI antidepressants to work suggests that it's not actually the immediate jump in serotonin levels that drum out the doldrums of depression, but some still-mysterious shift in downstream brain circuits.A new study from Stanford's Wu Tsai Neurosciences Institute reveals yet another new facet of these mood-managing molecules. The research, published on-line November 25, 2024 in Nature, demonstrates for the first time exactly how dopamine and serotonin work together -; or more precisely, in opposition -to shape our behavior. »...

«If you've heard of two of the brain's chemical neurotransmitters, it's probably dopamine and serotonin. Never mind that glutamate and GABA do most of the work -; it's the thrill of dopamine as the "pleasure chemical" and serotonin as tender mood-stabilizer that attract all the headlines. Of course, the headlines mostly get it wrong. Dopamine's role in shaping behavior goes way beyond simple concepts like "pleasure" or even "reward". And the fact that it takes weeks or months for serotonin-boosting SSRI antidepressants to work suggests that it's not actually the immediate jump in serotonin levels that drum out the doldrums of depression, but some still-mysterious shift in downstream brain circuits.A new study from Stanford's Wu Tsai Neurosciences Institute reveals yet another new facet of these mood-managing molecules. The research, published on-line November 25, 2024 in Nature, demonstrates for the first time exactly how dopamine and serotonin work together -; or more precisely, in opposition -to shape our behavior. »...