In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed prevalence and specificity of TSC-associated clinical manifestations and updated the TSC criteria for diagnosis, surveillance and management published in 2013. The published paper is available here. The papers published in relation to the 2013 guidelines are available below.

For individuals who are not healthcare professionals, below is a brief summary of the consensus recommendations for monitoring individuals with TSC. The updated diagnostic criteria for TSC is available here.

You can also get a printable pdf of both the diagnositc criteria and the surveillance and management guidelines by clicking here.

Surveillance and Management Recommendations for TSC

PROCEDURE FOR NEWLY DIAGNOSED
OR SUSPECTED TSC
FOR INDIVIDUALS ALREADY
DIAGNOSED WITH TSC

BRAIN

Brain MRI with and without gadolinium Yes Every 1-3 years up to age 25; periodically as adults if SEGAs present in childhood
Electroencephalogram (EEG) Yes; if abnormal, follow-up with 24-hour video EEG Routine EEG determined by clinical need; video EEG when seizure occurrence is unclear or when unexplained behavioral or neurological changes occur
TAND checklist Yes At least annually at each clinical visit
Comprehensive evaluation for TAND If warranted by TAND checklist analysis At key development time points (years):   0-3, 3-6, 6-9, 12-16, 28-35, and as needed thereafter
Counsel parents of infants Educate parents to recognize infantile spasms* Not applicable
SKIN, EYES, TEETH
Complete eye exam with dilated fundoscopy Yes Annually if lesions or symptoms identified at baseline
Detailed skin exam Yes Annually
Detailed dental exam Yes Every 6 months
Panoramic radiographs of teeth If age 7 or older At age 7 if not done previously
HEART
Fetal echocardiography only if rhabdomyomas identified by prenatal ultrasound Not applicable
Echocardiogram Yes in children, especially if younger than 3 years Every 1-3 years if rhabdomyoma present in asymptomatic children; more frequently in symptomatic individuals
Electrocardiogram (ECG/EKG) Yes Every 3-5 years; more frequently if symptomatic
KIDNEYS
Blood pressure Yes Annually
Abdominal MRI** Yes Every 1-3 years
Glomerular filtration rate (GFR) test Yes Annually
LUNGS
Clinical screening for LAM symptoms*** Yes At each clinic visit
Pulmonary function test and 6-minute walk test In all females age 18 or older; in adult males only if symptomatic Annually if lung cysts detected by high resolution computed tomography (HCRT)
High resolution computed tomography (HCRT) of chest In females 18 years and older; in adult males only if symptomatic Every 2-3 years if lung cysts detected on HRCT; otherwise every 5-10 years
Counsel on risks of smoking and estrogen use In adolescent and adult females At each clinic visit for individuals at risk of LAM
GENETICS
Genetics consultation Obtain 3-generation family history Offer genetic testing  of TSC1/2 and counseling if not done previously in individuals of reproductive age
*Treat infantile spasms with vigabatrin as first-line therapy.  Adrenocorticotropic hormone (ACTH) can be used as a second-line therapy if vigabatrin treatment is unsuccessful.

**Currently in Australia an ultrasound/imaging of the kidneys is much more commonly used in place of an MRI of the abdomen.

***Evaluate for LAM when symptoms such as unexplained chronic cough, chest pain, or breathing difficulties are present including exertional dyspnea and shortness of breath.

 

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Peer-Reviewed, Published Consensus Papers

The following papers are available free of charge with open access to anyone in the world. We encourage you to share these links with your health professionals. Additional publications will be added to this page as they become available.

Northrup, H., Aronow, M. E., Bebin, E. M., Bissler, J., Darling, T. N., de Vries, P. J., … & Young, L. (2021). Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatric Neurology, 123, 50-66.

Stuart, C., Fladrowski, C., Flinn, J., Öberg, B., Peron, A., Rozenberg, M., & Smith, C. A. (2021). Beyond the Guidelines: How We Can Improve Healthcare for People with Tuberous Sclerosis Complex Around the World. Pediatric Neurology, 123, 77-84

Northrup, H., et al., Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference Pediatric Neurology (October 2013)

Krueger, D.A., et al., Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference Pediatric Neurology (October 2013)

Roth, J., et al., Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012 Pediatric Neurology (December 2013)

Leclezio L et al. Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist, Pediatric Neurology (January 2015)

deVries PJ et al. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist, Pediatric Neurology (January 2015)

Hinton RB et al. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group, Journal of the American Heart Association (November 2014).

Teng JMC et al. Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements, JAMA Dermatology (October 2014)