부산대학교 도서관

Objectives: Patients with lysosomal storage diseases (LSDs) are rarely diagnosed until the presence of their serious condition. Promising therapeutic options are available for LSDs, but treatments should begin before symptoms appear. A newborn screening (NBS) is expected to be developed for early diagnosis. To understand parents’ attitude toward an NBS for LSDs, we conducted a cross-sectional study using a questionnaire.Method: We targeted parents of children who visited St. Marianna University School of Medicine Hospital and Kawasaki Municipal Tama Hospital from January 2019 to November 2019 for their infant’s 1-month checkup. We investigated their awareness of NBS, the acceptable cost for a novel NBS, necessary information, preferred time and method of providing that information. We also received responses from medical professionals and students in the St. Marianna University School of Medicine using the same questionnaire.Result and Discussion: We received the responses from 443 parents and 127 medical staffs. The responses we received showed that only one half of the individuals were aware of the NBS program. Among the responders, only 6.3% of the parents and 21.9% of the healthcare professionals knew the details of NBSs for LSDs, but 74.3% of the parents and 93.6% of the medical staff indicated that they would like their children to have NBSs and that they would pay the additional costs for the new NBS for LSDs. Both groups also indicated that the most preferable way to receive information on NBS would be through individual explanation from medical staff including medical doctors during pregnancy.Conclusion: Our study showed that newborn screening for LSDs is not well known as previous studies also showed. However, once parents knew about the test, most of them were willing to have their children undergo an NBS. In addition, medical professionals including medical students who have more knowledge about LSDs preferred to have the NBS. It is important to be aware of rare but treatable diseases and inform the expectant parents about NBS at the appropriate time.