Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.
Audit
Care
Coordination
Recommendations
Tuberous sclerosis complex (TSC)
Journal
Journal of rare diseases (Berlin, Germany)
ISSN: 2731-085X
Titre abrégé: J Rare Dis (Berlin)
Pays: Germany
ID NLM: 9918522486706676
Informations de publication
Date de publication:
2024
2024
Historique:
received:
18
03
2024
accepted:
20
05
2024
medline:
21
8
2024
pubmed:
21
8
2024
entrez:
21
8
2024
Statut:
ppublish
Résumé
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. Evaluate the baseline care of patients with TSC attending epilepsy services in the Republic of Ireland (ROI) against UK TSC consensus recommendations. 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. One hundred thirty-five TSC patients attending twelve epilepsy centres were identified. Adults ( The number of TSC patients attending epilepsy services is lower than expected ( The online version contains supplementary material available at 10.1007/s44162-024-00049-8.
Sections du résumé
Background
UNASSIGNED
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
UNASSIGNED
Evaluate the baseline care of patients with TSC attending epilepsy services in the Republic of Ireland (ROI) against UK TSC consensus recommendations.
Methods
UNASSIGNED
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
UNASSIGNED
One hundred thirty-five TSC patients attending twelve epilepsy centres were identified. Adults (
Conclusions
UNASSIGNED
The number of TSC patients attending epilepsy services is lower than expected (
Supplementary Information
UNASSIGNED
The online version contains supplementary material available at 10.1007/s44162-024-00049-8.
Identifiants
pubmed: 39165678
doi: 10.1007/s44162-024-00049-8
pii: 49
pmc: PMC11330946
doi:
Types de publication
Journal Article
Langues
eng
Pagination
24Informations de copyright
© The Author(s) 2024.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare that they have no conflict of interest.