A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

Abstract

Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. Due to the many manifestations of TSC and their potential complications, management requires the expertise of multiple medical disciplines. A multidisciplinary care approach is recommended by consensus guidelines. Use of multidisciplinary teams (MDTs) has been shown to be beneficial in treating other complex diseases, such as cancer. In a lifelong disease such as TSC, an MDT may facilitate the transition from pediatric to adult care. However, little guidance exists in the literature regarding how to organize an MDT in TSC. Methods To discuss the best approach to assembling an MDT, this project was initiated in October 2017 with a meeting of 12 physicians from various specialties and various countries. Following this first meeting, the experts generated statements on the most important aspects to implement in establishing an MDT for TSC by 3 rounds of selection using a Delphi process via electronic correspondence. Finally, TSC patient advocates reviewed the findings and provided additional insights from a patient perspective. Results A 3-step roadmap was recommended, starting with identifying a single individual to begin organizing care (Step 1), then establishing a small core team (Step 2), and finally, establishing a larger multi-disciplinary team (Step 3). Because of the multisystemic nature of TSC, the MDT should include specialists such as a neurologist, a neurosurgeon, a nephrologist, a urologist, a pulmonologist, an ophthalmologist, a cardiologist, a dermatologist, a geneticist, and a psychiatrist/psychologist. The MDT should recommend a care plan for each patient based on the individual’s needs and in consultation with him/her or his/her family. Some of the most important aspects of an MDT that were agreed upon included identifying a case manager to help coordinate care, providing access to health care professionals of varying specialties, and including a lead physician who takes medical responsibility for patients’ overall care. Conclusions The results of our consensus provide guidance to support the initiation of an MDT in TSC.

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

“…Despite this imbalance between care need and care provision, individuals in this study reported satisfaction with how their disease was treated and monitored. Furthermore, the transition from paediatric to adult TSC care was an important area of concern ( 23 ). Although this phase is generally considered challenging or difficult ( 24 ), our results showed a smooth process in almost half of the cases.…”

A Review of Investigations for Patients With Tuberous Sclerosis Complex Who Were Referred to the Tuberous Sclerosis Clinic at The Hospital for Sick Children: Identifying Gaps in Surveillance

“…As such, the care of TSC is associated with increased health care resource utilization as well as costs and the condition itself has profound impacts on quality of life. [12][13][14][15] Given the recent development of a comprehensive TSC clinic at our center, we aimed to better understand the care delivered to children with TSC before being seen in our TSC clinic to determine which gaps in surveillance of TSC care existed by examining whether the 2012 Tuberous Sclerosis Complex Consensus Recommendations were being followed. Of note, a revision to TSC guidelines is anticipated in the near future.…”

“…Although a multidisciplinary approach to TSC care has been recommended, access to specialty clinics may be limited for some patients due to a variety of factors (i.e., social, geographic, economic, etc.). 13 It is essential to identify which gaps in care exist so that surveillance and treatment for individuals with TSC can be optimized, regardless of the care delivery model in place.…”

Insights into the care coordination needs of people living with rare diseases in Western Australia

“…The important role of multidisciplinary teams in looking after a range of chronic conditions is well established [22] and is recognised as crucial to the diagnosis and management of rare disease in key planning documents including all three French national plans for rare diseases [23,24,25] and the WA Framework. A couple of recent studies have explored more deeply the importance of multidisciplinary teams in the care provision of rare diseases requiring care from up to 10 different medical specialists being type I gaucher disease and tuberous sclerosis complex [26,27].…”

“…These requirements reflect the desire from focus group participants to have a care plan for their condition developed with their input, and to receive strong medical oversight for their condition. The Auvin et al study [27] reported that a care coordinator or case manager, such as a nurse of other professional, was considered the number one factor in enabling a multi-disciplinary team to function reflecting the difficulties perceived by clinicians in managing patient care.…”