Table 5.

TSC clinic—core services.

Core Services	Role
1. Genetic testing and counseling	• Diagnostic opinion and management advice, including perinatally. • Arrange genetic testing, when indicated, and aid with interpretation of results. • Cascade genetic testing to identify asymptomatic disease in parents and relatives & stratify risk of developing TSC manifestations. • Discuss options for prenatal & pre-implantation genetic diagnosis.
2. Neurology and neuroradiology	• Access to pediatric and adult neurology services with specific epilepsy expertise, including epilepsy, and learning disability nurses. • Access to Neurophysiological tests including routine electroencephalogram (EEG) for patients with suspected or known seizure activity, and video-telemetry. • Access to Neuroradiological investigations: Baseline brain MRI (including MRI under general anesthesia where required): children and young adults with TSC should have a surveillance MRI every 2–3 years.
3. Nephrology, Urology, General, and Interventional Radiology	• Access to pediatric and adult nephrology, urology and interventional radiology services. • Radiological monitoring should include baseline and 1–3 yearly surveillance MRI (including under general anesthesia where required), depending on the presence and size of lesions. • MRI is the optimal renal imaging modality; CT or ultrasound may be acceptable alternatives in some circumstances. Where possible, 3D Volumetric analysis for AML to monitor change in lesions.
4. Clinical Psychology, Psychiatry and Developmental Pediatrics	• Assess and diagnose intellectual, behavioral, and psychiatric conditions associated with TSC. • Monitoring should include baseline evaluation of cognition, regular screening for TAND (or more frequently if required), and comprehensive formal evaluation of TAND at key developmental milestones (21).