M Vasseghi, C Behan, A Connolly, D Cunningham, E Dempsey, C Flynn, M Galvin, G Griffin, P Moloney, M Murphy, Y Owen, S O'Malley, G O'Rourke, O O'Sullivan, C P Doherty
{"title":"Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.","authors":"M Vasseghi, C Behan, A Connolly, D Cunningham, E Dempsey, C Flynn, M Galvin, G Griffin, P Moloney, M Murphy, Y Owen, S O'Malley, G O'Rourke, O O'Sullivan, C P Doherty","doi":"10.1007/s44162-024-00049-8","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis complex (TSC) is a rare approximate 1:6000 birth incidence, a genetic disease with a wide variability of physical and neuropsychiatric symptoms. Patients require lifelong care from multiple healthcare specialities, for which International and United Kingdom (UK) TSC consensus recommendations exist. Personalised care delivered by a centralised coordinated team of TSC experts is recommended. There is no such service for the estimated 600 TSC patients in the Republic of Ireland (ROI) and there is a paucity of information regarding the healthcare of this group.</p><p><strong>Purpose: </strong>Evaluate the baseline care of patients with TSC attending epilepsy services in the Republic of Ireland (ROI) against UK TSC consensus recommendations.</p><p><strong>Methods: </strong>Patients with a diagnosis of TSC attending 12 adult and paediatric epilepsy centres in the ROI were identified. Clinical audits measured the baseline care of a subset of these patients against UK, TSC clinical recommendations. Data was anonymised and analysed at Trinity College Dublin.</p><p><strong>Results: </strong>One hundred thirty-five TSC patients attending twelve epilepsy centres were identified. Adults (<i>n</i> = 67) paediatric (<i>n</i> = 68). The care of 83 patients was audited (<i>n</i> = 63 ≥ 18 years) and (<i>n</i> = 20 < 18 years). Many baseline tests were completed, however, they required intra or interhospital referral. Care appears fragmented and there was no evidence of formal disease surveillance plans.</p><p><strong>Conclusions: </strong>The number of TSC patients attending epilepsy services is lower than expected (<i>n</i> = 135). Specialist services and treatments for TSC are available through informal referral pathways. Although UK, TSC consensus baseline recommendations are roughly adhered to, care is fragmented. Increased coordination of care could benefit disease management.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s44162-024-00049-8.</p>","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330946/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of rare diseases (Berlin, Germany)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s44162-024-00049-8","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/19 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
Background: Tuberous sclerosis complex (TSC) is a rare approximate 1:6000 birth incidence, a genetic disease with a wide variability of physical and neuropsychiatric symptoms. Patients require lifelong care from multiple healthcare specialities, for which International and United Kingdom (UK) TSC consensus recommendations exist. Personalised care delivered by a centralised coordinated team of TSC experts is recommended. There is no such service for the estimated 600 TSC patients in the Republic of Ireland (ROI) and there is a paucity of information regarding the healthcare of this group.
Purpose: Evaluate the baseline care of patients with TSC attending epilepsy services in the Republic of Ireland (ROI) against UK TSC consensus recommendations.
Methods: Patients with a diagnosis of TSC attending 12 adult and paediatric epilepsy centres in the ROI were identified. Clinical audits measured the baseline care of a subset of these patients against UK, TSC clinical recommendations. Data was anonymised and analysed at Trinity College Dublin.
Results: One hundred thirty-five TSC patients attending twelve epilepsy centres were identified. Adults (n = 67) paediatric (n = 68). The care of 83 patients was audited (n = 63 ≥ 18 years) and (n = 20 < 18 years). Many baseline tests were completed, however, they required intra or interhospital referral. Care appears fragmented and there was no evidence of formal disease surveillance plans.
Conclusions: The number of TSC patients attending epilepsy services is lower than expected (n = 135). Specialist services and treatments for TSC are available through informal referral pathways. Although UK, TSC consensus baseline recommendations are roughly adhered to, care is fragmented. Increased coordination of care could benefit disease management.
Supplementary information: The online version contains supplementary material available at 10.1007/s44162-024-00049-8.
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