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Review
. 2025 Nov 21.
doi: 10.1111/jpc.70243. Online ahead of print.

Diagnosis and Management of Children With Tuberous Sclerosis Complex

Celia Dewell  1 , Denise L Chan  1   2 , Vanessa Sarkozy  1   2 , Eleanor Farley  1 , Jacqueline Russell  1 , David Mowat  1   2 , Sean E Kennedy  1   2 , Clara W T Chung  1   2
Affiliations
Review

Diagnosis and Management of Children With Tuberous Sclerosis Complex

Celia Dewell et al. J Paediatr Child Health. .

Abstract

Tuberous sclerosis complex (TSC) is a multi-system autosomal dominant condition associated with disease-causing variants in either of the TSC1 or TSC2 genes. It can be associated with variable benign tumours (hamartomas) in different organs, most notably the brain, kidneys, skin and heart with different ages of onset. Affected children may have early-onset epilepsy, refractory epilepsy, varying degrees of developmental disability, ranging from normal cognition and learning difficulties to moderate-severe intellectual disability, neurodevelopmental disorders and mental health disorders. Multidisciplinary TSC-specific clinical care is recommended. A precision medicine (mechanistic target of rapamycin (mTOR) inhibitors) aimed at the early treatment of epilepsy and TSC-specific therapy for tumours can reduce the burden of the disease and improve clinical outcomes. We describe a multidisciplinary model of care for TSC, with an emphasis on the early detection and diagnosis of TSC and active surveillance/management of electrical seizures and clinical seizures. This review article will cover the following: clinical presentation and diagnosis of TSC, its genetic basis, the role of genetic counselling, pre-seizure surveillance of infants and TSC-specific (neurological, neurodevelopmental, renal, dermatological and pulmonary) management guidelines throughout life.

Keywords: early management; epilepsy; surveillance; tuberous sclerosis complex.

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References

    1. J. R. W. Yates, C. Maclean, J. N. P. Higgins, et al., “The Tuberous Sclerosis 2000 Study: Presentation, Initial Assessments and Implications for Diagnosis and Management,” Archives of Disease in Childhood 96, no. 11 (2011): 1020–1025.
    1. D. Ebrahimi‐Fakhari, L. L. Mann, M. Poryo, et al., “Incidence of Tuberous Sclerosis and Age at First Diagnosis: New Data and Emerging Trends From a National, Prospective Surveillance Study,” Orphanet Journal of Rare Diseases 13, no. 1 (2018): 117.
    1. R. Nabbout, E. Belousova, M. P. Benedik, et al., “Epilepsy in Tuberous Sclerosis Complex: Findings From the TOSCA Study,” Epilepsia Open 4, no. 1 (2018): 73–84.
    1. C. W. T. Chung, J. A. Lawson, V. Sarkozy, et al., “Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome,” Pediatric Neurology 76 (2017): 20–26.
    1. H. Northrup, M. E. Aronow, E. M. Bebin, et al., “Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations,” Pediatric Neurology 123 (2021): 50–66.

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