M. Monaghan , A. Ahmad , G. Aldersley , A. Basu , E. Chakkarapani , Y. Collins-Sawaragi , I. Dey , R. Grayson , K. Forrest , A. Lording , D. Ram , M. Taylor , T. Thazin , E. Wassmer , S. Amin
{"title":"编码医疗数据的询问，以促进识别罕见的神经递质障碍患者芳香l -氨基酸脱羧酶缺乏症","authors":"M. Monaghan , A. Ahmad , G. Aldersley , A. Basu , E. Chakkarapani , Y. Collins-Sawaragi , I. Dey , R. Grayson , K. Forrest , A. Lording , D. Ram , M. Taylor , T. Thazin , E. Wassmer , S. Amin","doi":"10.1016/j.ibmed.2025.100225","DOIUrl":null,"url":null,"abstract":"<div><h3>Background and aims</h3><div>Aromatic L-Amino Acid Decarboxylase deficiency (AADCd) is a rare, phenotypically heterogenous neurotransmitter disorder, posing challenges for diagnosis. We aimed to assess the efficacy and acceptability of interrogating routine hospital data to identify possible AADCd patients.</div></div><div><h3>Methods</h3><div><strong>Design:</strong> Mixed methods feasibility study.</div><div><strong>Setting:</strong> UK Secondary and tertiary care hospitals.</div><div><strong>Procedure:</strong> A Structured Query Language (SQL) query was applied to hospital datasets to produce filtered lists of patients, ranked according to the presence of AADCd-consistent diagnostic and procedural codes. Findings were collected using a study proforma. No patient data was reported to the research team.</div></div><div><h3>Results</h3><div>Seven sites (five tertiary) participated. Data collection spanned June 01, 2022 to October 31, 2023. 340 medical records were reviewed, of which 76 patients had previously been investigated for a possible neurotransmitter disorder, 4 were currently being investigated, 31 were suitable for investigation, with 9 subsequently approached for further testing. No patients were identified as having AADCd. Thematic feedback included accuracy and technical, application challenges. Three sites reported this method could help identify AADCd patients.</div></div><div><h3>Conclusions</h3><div>Medical record interrogation to identify potential AADCd patients is feasible. Challenges including operational capacity, technical issues and uncertainty regarding efficacy remain.</div></div>","PeriodicalId":73399,"journal":{"name":"Intelligence-based medicine","volume":"11 ","pages":"Article 100225"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Interrogation of coded healthcare data to facilitate identification of patients with a rare neurotransmitter disorder; Aromatic L-Amino acid decarboxylase deficiency\",\"authors\":\"M. Monaghan , A. Ahmad , G. Aldersley , A. Basu , E. Chakkarapani , Y. Collins-Sawaragi , I. Dey , R. Grayson , K. Forrest , A. Lording , D. Ram , M. Taylor , T. Thazin , E. Wassmer , S. Amin\",\"doi\":\"10.1016/j.ibmed.2025.100225\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background and aims</h3><div>Aromatic L-Amino Acid Decarboxylase deficiency (AADCd) is a rare, phenotypically heterogenous neurotransmitter disorder, posing challenges for diagnosis. We aimed to assess the efficacy and acceptability of interrogating routine hospital data to identify possible AADCd patients.</div></div><div><h3>Methods</h3><div><strong>Design:</strong> Mixed methods feasibility study.</div><div><strong>Setting:</strong> UK Secondary and tertiary care hospitals.</div><div><strong>Procedure:</strong> A Structured Query Language (SQL) query was applied to hospital datasets to produce filtered lists of patients, ranked according to the presence of AADCd-consistent diagnostic and procedural codes. Findings were collected using a study proforma. No patient data was reported to the research team.</div></div><div><h3>Results</h3><div>Seven sites (five tertiary) participated. Data collection spanned June 01, 2022 to October 31, 2023. 340 medical records were reviewed, of which 76 patients had previously been investigated for a possible neurotransmitter disorder, 4 were currently being investigated, 31 were suitable for investigation, with 9 subsequently approached for further testing. No patients were identified as having AADCd. Thematic feedback included accuracy and technical, application challenges. Three sites reported this method could help identify AADCd patients.</div></div><div><h3>Conclusions</h3><div>Medical record interrogation to identify potential AADCd patients is feasible. Challenges including operational capacity, technical issues and uncertainty regarding efficacy remain.</div></div>\",\"PeriodicalId\":73399,\"journal\":{\"name\":\"Intelligence-based medicine\",\"volume\":\"11 \",\"pages\":\"Article 100225\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Intelligence-based medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2666521225000286\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Intelligence-based medicine","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2666521225000286","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Interrogation of coded healthcare data to facilitate identification of patients with a rare neurotransmitter disorder; Aromatic L-Amino acid decarboxylase deficiency
Background and aims
Aromatic L-Amino Acid Decarboxylase deficiency (AADCd) is a rare, phenotypically heterogenous neurotransmitter disorder, posing challenges for diagnosis. We aimed to assess the efficacy and acceptability of interrogating routine hospital data to identify possible AADCd patients.
Methods
Design: Mixed methods feasibility study.
Setting: UK Secondary and tertiary care hospitals.
Procedure: A Structured Query Language (SQL) query was applied to hospital datasets to produce filtered lists of patients, ranked according to the presence of AADCd-consistent diagnostic and procedural codes. Findings were collected using a study proforma. No patient data was reported to the research team.
Results
Seven sites (five tertiary) participated. Data collection spanned June 01, 2022 to October 31, 2023. 340 medical records were reviewed, of which 76 patients had previously been investigated for a possible neurotransmitter disorder, 4 were currently being investigated, 31 were suitable for investigation, with 9 subsequently approached for further testing. No patients were identified as having AADCd. Thematic feedback included accuracy and technical, application challenges. Three sites reported this method could help identify AADCd patients.
Conclusions
Medical record interrogation to identify potential AADCd patients is feasible. Challenges including operational capacity, technical issues and uncertainty regarding efficacy remain.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
