A gerincvelői izomsorvadás újszülöttkori szűrésének eredményei Magyarországon 2023-ban

Le résumé fourni par la source

Introduction: Optimal health care for patients born with spinal muscular atrophy can only be achieved through neonatal screening. Neonatal screening for this incurable, progressive genetic disease that most often causes death in childhood has been introduced in many countries, and its usefulness has been proven with the outstanding results of early diagnosis and initiation of therapy. Objective: To evaluate the neonatal screening research program in Hungary, to examine the reliability, public demand, cost-effectiveness of the chosen screening method, and the health benefits of early treatment; in the case of success, proposing its automatic inclusion in the newborn screening panel. Method: Screening for spinal muscular atrophy from the blood sample taken for routine screenings with free and voluntary consent of the parents. In the case of a positive screening test, confirmatory molecular genetic test to check the screening test and to determine the copy number of the paralogous gene influencing the therapy of choice. The choice of the therapy and treatment center in the framework of genetic counseling, based on a joint decision made with the parents. After the examinations necessary to rule out contraindications of the chosen medicine and to assess the individual fairness of the financing, the drug treatment is carried out with the permission, and then the patients are followed up on a long-term basis. Results: During the 14 months of the program, the popularity of screening was outstanding, covering 75.45% of newborn infants. In 9 children, the disease was confirmed at newborn age and in the asymptomatic stage, and drug treatment took place at an average age of 36.2 days; 8 patients were asymptomatic, 1 was symptomatic. At an average age of 218.5 (93–346) days after the start of asymptomatic therapy, the children’s somato-mental development was appropriate for their age, technology dependence due to breathing or swallowing disorders did not occur, and they did not need aids. In 1 patient, partial respirator dependence occurred due to the symptoms that appeared before the start of therapy. The screening test proved to be reliable, there were no false-positive results during the research period, and we are not aware of any false-negative results. Discussion: The Hungarian screening program showed similar results to the international data, confirming the health benefits associated with spinal muscular atrophy. Conclusion: Based on the results, we consider it justified to automatically include newborn spinal muscular atrophy screening in the general newborn screening program in Hungary. Orv Hetil. 2024; 165(29): 1122–1129.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.