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Tuberous Sclerosis: A Rare Disease with an Orphan Complex.

C Behan^1,2,3, R Davis³, M Vasseghi^2,3

¹Neurology Department, St. James's Hospital, Dublin.

Irish Medical Journal

|October 27, 2022

Summary

Care for individuals with tuberous sclerosis complex (TSC) in Ireland is fragmented, with significant gaps in genetic testing, neuropsychiatric support, and SUDEP discussions. The lack of specialist TSC clinics hinders adherence to UK guidelines.

Keywords:

Tuberous Sclerosis

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Area of Science:

Neurology
Genetics
Clinical Audit

Background:

Tuberous Sclerosis Complex (TSC) is a genetic disorder requiring specialized, multidisciplinary care.
The Republic of Ireland currently lacks dedicated TSC specialist clinics.
Existing care pathways may not align with established international guidelines.

Purpose of the Study:

To audit the current care standards for adult TSC patients in Ireland.
To compare delivered care against UK TSC guideline benchmarks.
To identify service gaps and areas for improvement in TSC management.

Main Methods:

A clinical audit was conducted across two adult epilepsy specialist centers.
Patient care was assessed against established UK guidelines for TSC.
Data collection focused on investigations, genetic testing, neuropsychiatric care, SUDEP discussions, and radiological reporting.

Main Results:

Only one-third of patients had available genetic testing results.
Neuropsychiatric assessments and SUDEP discussions were found to be inadequate.
Radiological reporting was inconsistent, and access to specialist epilepsy services for TSC patients appeared low.

Conclusions:

TSC care in Ireland is fragmented and difficult to navigate, leading to resource inefficiencies.
Significant service gaps exist, highlighting the need for a formal TSC clinical setting.
National extension of this audit is recommended to inform resource allocation and guideline adherence.