TSC Alliance announced the publication of two new papers in the prestigious Pediatric Neurology: “Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations” and “Beyond the Guidelines: How We Can Improve Healthcare for People with Tuberous Sclerosis Complex Around the World.”
Tuberous sclerosis complex (TSC) causes tumors to grow in different organs and can impair their function, primarily the brain, heart, kidneys, skin and lungs. Changes in the brain caused by TSC have the biggest impact on quality of life, from seizures and developmental delays to intellectual disabilities, behavioral challenges and autism.
“The TSC Alliance is thrilled to announce updated ‘gold standards’ for TSC diagnosis, surveillance and management,” said President & CEO Kari Luther Rosbeck. “The updated guidelines recognize the value of early surveillance and intervention. We look forward to the day we can prevent the most impactful aspects of TSC rather than waiting to treat them after they occur.”
The new papers provide the first significant updates to the international guidelines since 2013 because of new medications and advances in treatments since then. To address the changes, a working group led by Darcy A. Krueger, MD, PhD, of Cincinnati Children’s Hospital Medical Center, and Hope Northrup, MD, McGovern Medical School, University of Texas Health Science Center at Houston, included 80 participants from 16 countries.
Additionally, TSC International, a consortium of organizations that support individuals with TSC around the world, penned the companion piece, “Beyond the Guidelines: How We Can Improve Healthcare for People with Tuberous Sclerosis Complex from Around the World.” This paper examines the state of TSC care around the world, identifies gaps in TSC care and makes recommendations for how TSC organizations and key stakeholders can work together to overcome barriers in TSC care.
With an emphasis on the need for greater access to specialized TSC and comprehensive coordinated care, most recommendations for diagnosis, surveillance and management of TSC remained consistent with previous guidelines, but some major changes were made, including:
- Increased emphasis on early screening for EEG abnormalities, which could indicate impending epilepsy and higher risk for poorer developmental outcomes.
- Increased understanding of TSC-Associated Neuropsychiatric Disorders (TAND) and the need to identify and address issues to enable appropriate support. The concept of TAND was born at the 2012 TSC Consensus Conference, and these updated guidelines reflect how much has been learned about the importance of accurately and urgently dealing with TAND and many other aspects of TSC in the last nine years.
- Regulatory approval in the United States and many other countries since 2013 of everolimus for adjunctive treatment of focal-onset seizures in TSC, cannabidiol for epilepsy in TSC and sirolimus for lymphangioleiomyomatosis, a lung disease that affects women more often than men, usually between the onset of puberty and menopause.
“The TSC Alliance is grateful for the leadership of Drs. Northrup and Krueger and for the collaboration and contributions of international experts and advocates to make this happen,” explained Steven L. Roberds, PhD, Chief Scientific Officer. “As we gather data on the implementation and outcomes of these recommendations, we plan to develop and continually update evidence-based guidelines.”
In addition to the new papers, a continuing medical education course from the Peerview Institute for Medical Education, “Applying Evidence to Practice–Updated Consensus Recommendations for the Diagnosis, Surveillance, and Management of Tuberous Sclerosis Complex,” is also available.
The TSC Alliance is an internationally recognized nonprofit that does everything it takes to improve the lives of people with TSC. It drives research, improves quality care, works to increase access and advocates for all affected by the disease.