Current Concepts for Multidisciplinary Care in Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) may manifest across a number of different organs, and there may be neurodevelopmental impact as well. As such, strategies to provide a superior level of care for patients with TSC include the use of a multidisciplinary team–based approach.
How would you characterize multidisciplinary care and its value in TSC?
Director, Pediatric Epilepsy Program
“Our multidisciplinary approach includes identifying manifestations of TSC in our patient population and then linking patients to the appropriate specialists, which also increases the institutional awareness of the disorder. I think that this approach really gives the family and the patient with TSC a medical home.”
Multidisciplinary care for disorders such as TSC is very important and can be tremendously impactful for the patient and their family. When I started out, the number of programs that provided comprehensive care for TSC was extremely limited. I became involved in TSC more than 20 years ago as an epilepsy doctor. By caring for these patients, I realized that it is not just about the seizures and other neurologic manifestations for those living with this disorder; rather, a consideration of all the organ involvement is required.
The formation of a multidisciplinary team starts with a single physician who has a passion for treating patients with TSC; is eager to liaise with families, organizations, and other physicians; and can help drive the process. A core team including specialists and care coordinators is also needed. The multidisciplinary team grows further as additional specialists are identified through an established reference network, with the assistance of the care coordinator. Care coordination is one of the most important aspects of the multidisciplinary team to implement. Other important factors in the formation of a multidisciplinary team include identifying a lead physician, the core group of physicians, and the team associated with the clinic. The TSC team should also agree to follow established guidelines and agreed-upon protocols, and it should work toward establishing transition of care as patients age. And then, collaboration with treating physicians, family doctors, and other first-line health care workers is essential for good patient follow-up, especially if the patient lives relatively far from the team.
At Massachusetts General Hospital, we now care for more than 600 patients with TSC, and we have 46 specialists who are affiliated with our center to identify the needs of any adult or child living with TSC. Our multidisciplinary approach includes identifying manifestations of TSC in our patient population and then linking patients to the appropriate specialists, which also increases the institutional awareness of the disorder. I think that this approach really gives the family and the patient with TSC a medical home.
Professor In-Residence, Departments of Neurosurgery and Psychiatry and Biobehavioral Sciences
“The 2021 guidelines from the International Tuberous Sclerosis Complex Consensus Group recommended multidisciplinary care owing to the complex multisystem nature of the disease. The use of multidisciplinary teams has been shown to be beneficial in improving management and outcomes in patients with other complex clinical entities.”
Because many manifestations of TSC can lead to complications and can evolve over a patient’s lifetime, the expertise of multiple disciplines is needed to effectively treat patients with TSC. For example, cardiac rhabdomyomas may develop early in life and may represent the classic neonatal manifestation of cardiac disease in TSC. Although these are usually asymptomatic and may regress with age, such lesions occasionally cause arrhythmias later in life and can lead to ventricular dysfunction, illustrating the importance of ongoing cardiology care.
The 2021 guidelines from the International Tuberous Sclerosis Complex Consensus Group recommended multidisciplinary care owing to the complex multisystem nature of the disease. The use of multidisciplinary teams has been shown to be beneficial in improving management and outcomes in patients with other complex clinical entities. For example, a 2021 study from France of 90 adult patients with TSC reported a high level of patient satisfaction and optimal management using a multidisciplinary approach to care.
Lastly, an important part of a comprehensive approach to TSC involves education and support for the TSC community, which has been served wonderfully by the TSC Alliance. As a parent-based organization, the TSC Alliance advocates for the community. Its involvement in TSC has become a model of how to address a rare disease. The TSC Alliance is also very active in raising money, getting bills in front of Congress, and establishing criteria for TSC centers of excellence.
Professor of Pediatrics and Neurology
“The multidisciplinary approach is great for the families of patients with TSC. Visits are tailored to patients based on their individual needs; this requires a lot of organization, but I think that it really provides the patients with a superior level of care.”
TSC can affect every organ in the body, including the heart and lungs, and different symptoms present at different ages. Significant behavioral and developmental difficulties may be present in addition to these other manifestations. That is really too much for any one physician to manage, so most TSC clinics are multidisciplinary. They are typically run by neurologists, but input is needed from different specialties.
In Cincinnati, the pediatric hospital is across the street from the adult hospital, and this facilitates access to internists, adult nephrologists, pediatric specialists, social workers, dermatologists, and more. We work with a team of physicians. Some specialists, such as nephrologists, come to the clinic regularly because they address common problems associated with TSC, while others, such as neurosurgeons, only come in on an as-needed basis. Our core disciplines are genetics, psychiatry, nephrology, and pulmonary medicine, since we see many adults with TSC who have lung involvement.
The multidisciplinary approach is great for the families of patients with TSC. Visits are tailored to patients based on their individual needs; this requires a lot of organization, but I think that it really provides the patients with a superior level of care. Not only do these individual doctors see the patient during the visit but we also have a conference to discuss the patients before and after the visit. The social workers and nursing staff are key to the team’s success because they work hard to coordinate with the patients and families, ensuring that the intended steps are being taken and that the plan is realized.
Auvin S, Bissler JJ, Cottin V, et al. A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 2019;14(1):91. doi:10.1186/s13023-019-1072-y
Brown LW, Camfield P, Capers M, et al. The neurologist's role in supporting transition to adult health care: a consensus statement. Neurology. 2016;87(8):835-840. doi:10.1212/WNL.0000000000002965
Northrup H, Aronow ME, Bebin EM, et al; International Tuberous Sclerosis Complex Consensus Group. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021;123:50-66. doi:10.1016/j.pediatrneurol.2021.07.011
Pfirmann P, Aupy J, Jambon E, et al. Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex. J Med Genet. 2021;58(1):25-31. doi:10.1136/jmedgenet-2019-106607
TSC Alliance. Accessed July 11, 2022. https://www.tscalliance.org
Williams ME, Pearson DA, Capal JK, et al; TACERN Study Group. Impacting development in infants with tuberous sclerosis complex: multidisciplinary research collaboration. Am Psychol. 2019;74(3):356-367. doi:10.1037/amp0000436