Managing tuberous sclerosis in the Asia-Pacific region: refining practice and the role of targeted therapy

Lawson, John A., Chan, Chi-Fung, Chi, Ching-Shiang, Fan, Pi-Chuan, Kim, Heung Dong, Kim, Ki Joong, Likasitwatanakul, Surachai, Ortiz, Marilyn, Riney, Kate, Tay, Stacey Kiat-Hong and Tham, Chee-Kian (2014) Managing tuberous sclerosis in the Asia-Pacific region: refining practice and the role of targeted therapy. Journal of Clinical Neuroscience, 21 7: 1180-1187. doi:10.1016/j.jocn.2013.06.029

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Author Lawson, John A.
Chan, Chi-Fung
Chi, Ching-Shiang
Fan, Pi-Chuan
Kim, Heung Dong
Kim, Ki Joong
Likasitwatanakul, Surachai
Ortiz, Marilyn
Riney, Kate
Tay, Stacey Kiat-Hong
Tham, Chee-Kian
Title Managing tuberous sclerosis in the Asia-Pacific region: refining practice and the role of targeted therapy
Journal name Journal of Clinical Neuroscience   Check publisher's open access policy
ISSN 0967-5868
Publication date 2014-07-01
Year available 2013
Sub-type Article (original research)
DOI 10.1016/j.jocn.2013.06.029
Open Access Status Not yet assessed
Volume 21
Issue 7
Start page 1180
End page 1187
Total pages 8
Place of publication London, United Kingdom
Publisher Churchill Livingstone
Language eng
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.
Keyword Asia-Pacific
mTOR inhibitor
Tuberous sclerosis
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2015 Collection
School of Medicine Publications
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Created: Fri, 25 Apr 2014, 00:59:36 EST by Dominique Rossouw on behalf of School of Medicine