title: Managing tuberous sclerosis in the Asia-Pacific region: refining practice and the role of targeted therapy.
abstract: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder, with heterogeneous manifestations that pose major diagnostic and management challenges and incur considerable chronic disease burden on patients, their caregivers and healthcare systems. This survey of clinical practice in the Asia-Pacific region highlights priorities for improving TSC management in the region. The prevalence of TSC in non-Caucasians is uncertain and more data are needed to assess its impact and health-economic burden. There are unmet needs for access to genetic testing and earlier diagnosis and intervention. TSC management is multidisciplinary and largely based on experience, backed by international guidelines; however, physicians in the Asia-Pacific region feel isolated and lack local or regional guidance and support structures to implement best-practice. Raising awareness of TSC and increasing trans-regional collaboration are particular priorities. Understanding of TSC pathophysiology has enabled the development of targeted therapies. Encouraging data indicate that mammalian target of rapamycin (mTOR) inhibitors can ameliorate TSC-related lesions and may potentially change the treatment paradigm. Ultimately, improving outcomes for TSC patients in the region requires greater collaboration and a holistic, patient-focused, continuum of care that is maintained through the transition from pediatric to adult care.
authors: Department of Neurology, Sydney Children's Hospital and University of NSW, High Street, Randwick, NSW 2031, Australia. Electronic address: Lawson@sesiahs.health.nsw.gov.au.
authors: John A
authors: JA
authors: Lawson
authors: Department of Pediatrics & Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
authors: Chi-Fung
authors: CF
authors: Chan
authors: Pediatric Neurology, Tungs' Taichung MetroHarbor Hospital, Taichung, Taiwan.
authors: Ching-Shiang
authors: CS
authors: Chi
authors: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
authors: Pi-Chuan
authors: PC
authors: Fan
authors: Division of Pediatric Neurology, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors: Heung Dong
authors: HD
authors: Kim
authors: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.
authors: Ki Joong
authors: KJ
authors: Kim
authors: Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors: Surachai
authors: S
authors: Likasitwatanakul
authors: Child Neuroscience Center, Philippine Children's Medical Center, Quezon City, Philippines; International Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.
authors: Marilyn
authors: M
authors: Ortiz
authors: Neurosciences Unit, Mater Children's Hospital, Brisbane, QLD, Australia.
authors: Kate
authors: K
authors: Riney
authors: Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore.
authors: Stacey Kiat-Hong
authors: SK
authors: Tay
authors: Department of Medical Oncology, National Cancer Centre, Singapore.
authors: Chee-Kian
authors: CK
authors: Tham
mesh_terms: D001208:Asia / Q000453:epidemiology; D017028:Caregivers; D019468:Disease Management; D005260:Female; D006801:Humans; D008297:Male; D058570:TOR Serine-Threonine Kinases / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy*
chemical_list: C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases
keywords: Asia-Pacific; Management; TSC; Tuberous sclerosis; mTOR inhibitor