Tuberous sclerosis: a rare disease with an orphan complex
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.iePublished 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 2022PubMed ID
36300768Department/Unit
- Beaumont Hospital
- FutureNeuro Centre
- School of Pharmacy and Biomolecular Sciences
Publisher
Irish Medical AssociationVersion
- Published Version (Version of Record)