Agustini Utari, Ferdy Kurniawan Cayami, Tithasiri Audi Rahardjo, Selvia Eva Sabatini, Vynda Ulvyana, Tri Indah Winarni
{"title":"在印度尼西亚中爪哇省发现唐氏综合症及其问题的关键问题:需要医疗保健和更好的管理。","authors":"Agustini Utari, Ferdy Kurniawan Cayami, Tithasiri Audi Rahardjo, Selvia Eva Sabatini, Vynda Ulvyana, Tri Indah Winarni","doi":"10.5582/irdr.2023.01103","DOIUrl":null,"url":null,"abstract":"<p><p>We conducted a cross-sectional study to describe the health care problems of children with Down syndrome in Central Java, Indonesia. A total of 162 children (81 boys, 81 girls) with Down syndrome were included. Congenital heart defects and hypothyroidism were found in about 50%, followed by vision and hearing problems in 27.7% and 17.3%, respectively. Almost half of cases were diagnosed after the first month of age. Advanced maternal age was identified in more than 50%, and less than 10% was based on karyotype analysis. This study describes the essential issues such as critical co-morbidities, delayed diagnosis, advanced maternal age, and lack of (accessibility to) genetic testing facilities; thus, better health care and management is needed.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"13 2","pages":"121-125"},"PeriodicalIF":1.1000,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11145408/pdf/","citationCount":"0","resultStr":"{\"title\":\"Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management.\",\"authors\":\"Agustini Utari, Ferdy Kurniawan Cayami, Tithasiri Audi Rahardjo, Selvia Eva Sabatini, Vynda Ulvyana, Tri Indah Winarni\",\"doi\":\"10.5582/irdr.2023.01103\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We conducted a cross-sectional study to describe the health care problems of children with Down syndrome in Central Java, Indonesia. A total of 162 children (81 boys, 81 girls) with Down syndrome were included. Congenital heart defects and hypothyroidism were found in about 50%, followed by vision and hearing problems in 27.7% and 17.3%, respectively. Almost half of cases were diagnosed after the first month of age. Advanced maternal age was identified in more than 50%, and less than 10% was based on karyotype analysis. This study describes the essential issues such as critical co-morbidities, delayed diagnosis, advanced maternal age, and lack of (accessibility to) genetic testing facilities; thus, better health care and management is needed.</p>\",\"PeriodicalId\":14420,\"journal\":{\"name\":\"Intractable & rare diseases research\",\"volume\":\"13 2\",\"pages\":\"121-125\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2024-05-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11145408/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Intractable & rare diseases research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5582/irdr.2023.01103\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Intractable & rare diseases research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5582/irdr.2023.01103","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Critical issue in the identification of Down syndrome and its problems in Central Java, Indonesia: The fact of needing health care and better management.
We conducted a cross-sectional study to describe the health care problems of children with Down syndrome in Central Java, Indonesia. A total of 162 children (81 boys, 81 girls) with Down syndrome were included. Congenital heart defects and hypothyroidism were found in about 50%, followed by vision and hearing problems in 27.7% and 17.3%, respectively. Almost half of cases were diagnosed after the first month of age. Advanced maternal age was identified in more than 50%, and less than 10% was based on karyotype analysis. This study describes the essential issues such as critical co-morbidities, delayed diagnosis, advanced maternal age, and lack of (accessibility to) genetic testing facilities; thus, better health care and management is needed.