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Tuberous sclerosis: a rare disease with an orphan complex

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journal contribution
posted on 2022-12-06, 08:05 authored by Claire Behan, R Davis, M Vasseghi, P Moloney, S Amin, Norman DelantyNorman Delanty, C P Doherty

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.

History

Comments

The original article is available at www.imj.ie

Published Citation

Behan C, Davis R, Vasseghi M, Moloney P, Amin S, Delanty N, Doherty CP. Tuberous sclerosis: a rare disease with an orphan complex. Ir Med J. 2022;115(7):635.

Publication Date

18 August 2022

PubMed ID

36300768

Department/Unit

  • Beaumont Hospital
  • FutureNeuro Centre
  • School of Pharmacy and Biomolecular Sciences

Publisher

Irish Medical Association

Version

  • Published Version (Version of Record)