▸ Three-generation family history to determine TSC risk in additional family members

▸ Offer genetic testing/family counselling

▸ Genetic testing/family counselling in individuals of reproductive age or newly considering having children

▸ MRI to identify presence of tubers, subependymal nodules, migrational defects and SEGA

▸ Screen for TAND

▸ Educate parents on infantile spasms during infancy

▸ Perform baseline EEG; if abnormal, follow-up with 24-hour video EEG to assess for subclinical seizure activity

▸ MRI every 1–3 years if asymptomatic and aged <25 years; more frequent MRIs in asymptomatic patients with large or growing SEGAs

▸ Screen for TAND annually; comprehensive formal TAND evaluation at key developmental time points (particularly at 0–3, 3–6, 6–9, 12–16 and 18–25 years)

▸ Routine EEG in patients with known or suspected seizure activity

▸ MRI of the abdomen to identify angiomyolipoma and renal cysts

▸ Measure BP to screen for hypertension

▸ Measure GFR to assess renal function

▸ MRI of the abdomen every 1–3 years throughout lifetime of the patient

▸ Measure BP and GFR annually

▸ Baseline pulmonary function testing, 6-minute walk test and HRCT if at risk for LAM (typically women ≥18 years)

▸ Counsel on smoking risks and oestrogen use

▸ Clinical screening for LAM (ie, exertional dyspnoea) symptoms at each clinic visit

▸ Ongoing counselling on smoking risks and oestrogen use for patients at risk for LAM

▸ HRCT every 5–10 years in absence of lung cysts at baseline scan or every 2–3 years if lung cysts present

▸ Pulmonary function testing and 6-minute walk test annually if lung cysts present at baseline

▸ ECG in all ages to identify underlying conduction defects

▸ Echocardiography in patients ≤3 years

▸ If rhabdomyomas are identified via prenatal ultrasound, consider fetal echocardiography after delivery to assess risk for heart failure

▸ ECG every 3–5 years in all ages if asymptomatic

▸ Echocardiography every 1–3 years in asymptomatic paediatric patients until cardiac rhabdomyomas regress

▸ Might necessitate more frequent or advanced diagnostics for symptomatic patients

▸ Detailed dermatological examination

▸ Detailed dermatological examination annually

▸ Detailed dental examination

▸ Detailed dental examination every 6 months

▸ Panoramic radiography by 7 years of age

▸ Complete ophthalmological evaluation (including dilated funduscopy) to identify retinal lesions and visual field defects

▸ Ophthalmological evaluations annually if ophthalmological lesions or vision symptoms present at baseline evaluation