Tuberous Sclerosis: A Rare Disease with an Orphan Complex.

Autor:	Behan C; Neurology Department, St. James's Hospital, Dublin.; SFI FutureNeuro Research Centre, Ireland.; Trinity College Dublin, College Green, Dublin 2., Davis R; Trinity College Dublin, College Green, Dublin 2., Vasseghi M; SFI FutureNeuro Research Centre, Ireland.; Trinity College Dublin, College Green, Dublin 2., Moloney P; Neurology Department, Beaumont Hospital, Dublin.; SFI FutureNeuro Research Centre, Ireland., Amin S; University Hospitals Bristol, Bristol, United Kingdom., Delanty N; Neurology Department, Beaumont Hospital, Dublin.; SFI FutureNeuro Research Centre, Ireland., Doherty CP; Neurology Department, St. James's Hospital, Dublin.; SFI FutureNeuro Research Centre, Ireland.; Trinity College Dublin, College Green, Dublin 2.
Jazyk:	angličtina
Zdroj:	Irish medical journal [Ir Med J] 2022 Aug 18; Vol. 115 (7), pp. 635. Date of Electronic Publication: 2022 Aug 18.
Abstrakt:	Introduction In the Republic of Ireland, there are no tuberous sclerosis complex (TSC) specialist clinics. Methods A clinical audit was carried out to assess the care received by patients attending two specialist adult epilepsy specialist centres, measuring their care against the UK guidelines. Results Although many baseline investigations are carried out, only one-third of patients had diagnostic genetic testing results available. Neuropsychiatry is largely neglected, and the completion of neuropsychiatric assessments checklists is inadequate. Discussions concerning SUDEP are not happening and access to treatment is limited. Reporting of radiological findings in TSC is inconsistent and the number of adults with TSC accessing specialist epilepsy services appear to be low. Discussion TSC care in the Republic of Ireland is fragmented, difficult to navigate and wasteful of resources due to the complex nature of the disease and no formal clinical setting to manage it. The service gaps echo the demand for an improved care system including consistent radiological reporting of TSC pathology. The absence of a specialist TSC clinic compounds the complexity of navigating care for individuals with TSC, families and healthcare professionals. Extending this audit nationally will give a more complete picture and highlight the resources required to bring care of these patients in line with recommended guidelines. Competing Interests: The authors have no conflicts of interest to declare.
Databáze:	MEDLINE
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