Diagnosis and management of children with TSC
This review article was written by the dedicated team of clinicians working in the TSC Clinic at Sydney Children’s Hospital. Their work reflects extensive experience supporting children and families living with TSC and brings together current research and clinical practice to help guide diagnosis, monitoring and care.
About this review
This review aims to describe how TSC is diagnosed and managed, and focuses on early detection, careful monitoring, and coordinated multidisciplinary care. The authors also highlight newer treatment approaches, particularly therapies targeting the mTOR pathway, which can improve outcomes for some people living with TSC.
How the review was conducted
This article is a clinical review. The authors have brought together findings from published research, international guidelines, and their own experience in a specialised TSC clinic.
Findings of the review
The review highlights several key findings about the diagnosis and management of children living with TSC.
Early diagnosis is important
TSC may be suspected before or shortly after birth due to signs such as heart tumours (cardiac rhabdomyomas), skin findings, or brain abnormalities seen on imaging. Genetic testing can confirm the diagnosis in many cases. Early diagnosis is important because it creates an opportunity to begin monitoring as early as possible and initiate some treatments before complications, particularly seizures, develop.
Epilepsy is common and often begins early
Many infants and children living with TSC develop seizures early in life, and in some cases these can be difficult to control, affecting development and quality of life.
A major shift in care is the recognition that abnormal brain activity can often be detected on EEG weeks before seizures become visible. This allows infants to be monitored closely and, in some cases, to start anti-seizure treatment before clinical seizures begin. Early intervention may help reduce the severity of epilepsy and support better developmental outcomes.
TSC affects multiple organs
Children living with TSC require ongoing monitoring because the condition can affect multiple organ systems over time. Brain tumours, such as subependymal giant cell astrocytomas (SEGAs), occur in around 20–24% of individuals. Kidney angiomyolipomas (AMLs) are very common, affecting about 80% of people by adulthood, and need regular monitoring to prevent complications.
Skin features are also common, with facial angiofibromas affecting up to 75% of individuals; these can have both medical and psychosocial impacts. Cardiac rhabdomyomas are often seen early in life, particularly before or shortly after birth.
Neurodevelopmental and mental health conditions are a major part of TSC. Around 90% of individuals experience TSC-associated neuropsychiatric disorders (TAND) at some stage, although these challenges are often under-recognised.
Neurodevelopmental needs are particularly under-recognised. The review highlights that TAND includes a wide range of difficulties, such as autism, ADHD, anxiety, sleep problems, and learning challenges. These issues can have a significant impact on quality of life for both the person living with TSC and their family.
Because of this, regular developmental assessment and structured screening tools are recommended, with formal evaluations at key developmental stages.
Targeted treatments are increasingly available
One of the most significant recent advances in TSC care is the use of medications that target the mTOR pathway, such as everolimus and sirolimus. These treatments address the underlying biology of TSC rather than just treating symptoms.
Research is ongoing to determine whether these treatments could be used even earlier, before seizures begin, to improve long-term outcomes.
Multidisciplinary care is essential
Effective management of TSC typically involves a team of specialists, including neurologists, geneticists, nephrologists, dermatologists, cardiologists and developmental specialists.
Specialist TSC clinics can coordinate this care, but where these are not available, general paediatricians play a key role in organising monitoring, supporting families, and ensuring that recommended surveillance is followed.
Clinicial care implications of the review
This review reinforces the importance of diagnosing TSC as early as possible so that monitoring and treatment can begin promptly. Early and proactive epilepsy management, particularly through EEG surveillance in infancy, is a major shift in practice and may improve long-term outcomes.
Lifelong surveillance is essential because different complications can arise at different ages, often without symptoms in the early stages. Regular imaging and clinical reviews allow problems such as brain or kidney tumours to be detected and treated early.
The growing use of targeted therapies is changing the way TSC is managed, offering new options that can reduce disease burden. At the same time, the review highlights that coordinated, multidisciplinary care remains central to achieving the best outcomes.
Conclusions of the review
The authors conclude that early recognition, proactive monitoring and coordinated multidisciplinary care are critical for children living with TSC.
Advances in genetic testing, surveillance strategies and targeted treatments mean that clinicians can now intervene earlier and more effectively than in the past. Early treatment of epilepsy and appropriate management of TSC-related tumours may improve health outcomes and quality of life for children living with TSC.
The review emphasises that care for children living with TSC should follow structured surveillance guidelines so that complications can be detected early and treated promptly.
DISCLAIMER
This information is intended to provide some insights into recent TSC-related research. It is not intended to, and it should not, constitute medical or other advice. Readers are warned not to take any action without first seeking medical advice.
Dewell C, Chan DL, Sarkozy V, Farley E, Russell J, Mowat D, Kennedy SE, Chung CWT. Diagnosis and Management of Children With Tuberous Sclerosis Complex. J Paediatr Child Health. 2025 Nov 21. doi: 10.1111/jpc.70243. Epub ahead of print. PMID: 41273003.