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Annual review of children with tuberous sclerosis
1The North West London Hospitals NHS Trust, Northwick Park Hospital, London, UK School of Clinical Medicine, University Of Cambridge, Cambridge, UK.
Insights
This review provides a framework for the annual review of tuberous sclerosis complex (TSC), a childhood disorder causing hamartomas. It guides clinicians on questions, examinations, investigations, and referrals for managing TSC complications.
Area of Science:
- Pediatric Neurology
- Genetics
- Clinical Medicine
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder characterized by hamartoma formation in multiple organs.
- Regular monitoring is crucial for managing TSC complications, necessitating standardized clinical approaches.
Purpose of the Study:
- To establish an evidence-based framework for the annual review of patients with tuberous sclerosis complex.
- To guide clinicians on key aspects of TSC management, including questioning, examination, investigations, and multidisciplinary referrals.
Main Methods:
- Systematic review of current literature and clinical guidelines.
- Synthesis of evidence to address uncertainties in TSC screening and management.
Main Results:
- The framework outlines specific questions for patient history and targeted physical examinations.
- It provides criteria for diagnostic investigations and recommendations for specialist referrals.
- Addresses ongoing debates regarding screening intervals, modalities, and interventions for astrocytomas and renal angiomyolipomas.
Conclusions:
- This framework aims to optimize the annual review process for tuberous sclerosis complex.
- It supports evidence-based decision-making in managing TSC and its associated complications.
Abstract:
Tuberous sclerosis complex is a complex childhood disorder characterised by the formation of hamartomas in multiple organs. Annual review of this disease is recommended to monitor the development of complications. We aim to provide a concise, evidence-based framework to assist clinicians during this annual review. We focus on the following areas: (A) what questions need to be asked during annual review, (B) which areas need emphasis on examination, (C) when is an investigation required and (D) referral to tertiary specialists and other members of the multidisciplinary team. It should also be noted that there are ongoing debates regarding screening intervals in certain areas. These include the frequency, modality of screening and degree of intervention for astrocytomas and renal angiomyolipomas. This review seeks to summarise the product of the ongoing debates, and provide evidence-based suggestions in light of the uncertainty.
