Purpose of review: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with physical and neuropsychiatric manifestations and significant research progress has been made in recent years. Here, we focus on the key advances over the last 18 months.
Recent findings: Three main themes were identified in the literature. Firstly, the diagnostic criteria and surveillance guidelines for TSC were revised, incorporating a genetic criterion alongside clinical criteria, and making a positive step towards evidence-based treatment of TSC. Secondly, a new term - TSC-associated neuropsychiatric disorders (TAND) - was introduced as an umbrella term for all possible neuropsychiatric difficulties seen in TSC, and a TAND Checklist was developed as a screening tool. Thirdly, the risks and benefits of molecularly targeted treatments of the neuropsychiatric manifestations of TSC are being debated.
Summary: The updated diagnostic criteria and management guidelines, the new concept of TAND and the TAND Checklist should lead to significant improvements in the quality of care for individuals with TSC. The promise of mammalian target of rapamycin inhibitors and other molecular treatments are still to be confirmed. We suggest that great care should be taken to identify 'optimal mammalian target of rapamycin signalling' in the therapeutic approach to the neuropsychiatric features of the disorder.