Tuberous Sclerosis: A Rare Disease with an Orphan Complex.

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.