Enhancing the utility of tuberous sclerosis complex-associated neuropsychiatric disorders checklist in China
Enhancing the utility of tuberous sclerosis complex-associated neuropsychiatric disorders checklist in China作者机构：Senior Department of Pediatrics the Seventh Medical Center of Chinese PLA General Hospital Beijing China Department of Pediatrics the First Medical Center of Chinese PLA General Hospital Beijing China Medical School of Chinese PLA Beijing China Department of Neurology Boston Children’s Hospital Harvard Medical School Boston Massachusetts USA Biostatistics and Research Design Center Institutional Centers for Clinical and Translational Research Boston Children’s Hospital Harvard Medical School Boston Massachusetts USA
出 版 物：《儿科学研究(英文)》 (Pediatric Investigation)
年 卷 期：2024年第8卷第3期
页 面：171页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 100205[医学-精神病与精神卫生学] 10[医学]
基 金：General project of National Key Research and Development Program of China(Grant/Award Number: 2023YFC2706405) Beijing Natural Science Foundation(Grant/Award Number: 7222187) The equipment comprehensive research project of General Armament Department(Grant/Award Number: 145BHQ090025000X) The special scientific research project of military family planning(Grant/Award Number: 22JSZ20) Capital’s Funds for Health Improvement and Research(Grant/Award Number: 2024-2-5082) The key project of innovation cultivation fund of the Seventh Medical Center of Chinese PLA General Hospital(Grant/Award Number: qzx-2023-1)
摘 要：[...]it aims to advocate for the adoption and recognition of the TAND Checklist within the Chinese TSC patient community. In a study of 2093 patients in the TuberOus SClerosis registry to increase disease Awareness (TOSCA) cohort, it was found that diagnoses of TAND were often delayed, with 30%–50% of patients not undergoing evaluation.13 A pilot study of the TAND Checklist, involving 20 professionals and 62 parents and caregivers from 28 countries, found that 93% of participants experienced four or more lifetime TAND behavioral difficulties.20 A study utilizing questionnaires with disease-specific questions on the burden of illness (BOI) and validated quality of life questionnaires, analyzed individual outcomes of 143 participants in the TOSCA study, emphasizing the burden of TSC on the personal lives of TSC patients and their families. The findings indicated high BOI and low quality of life within this population, underscoring the importance of early identification and intervention for TAND to enhance the quality of life for these individuals.21 Therefore, the TAND Checklist should serve as a valuable resource for identifying and evaluating TAND-related disorders, contributing to the enhancement of care and management for individuals with TSC.15,20 In 2023, Heunis et al.22 introduced a self-report quantified TAND Checklist (TAND-SQ), distinct from the clinician-completed lifetime version (TAND-L). DIAGNOSIS AND TREATMENT OF TSC IN CHINA Following the establishment of recommendations and standards by the 2012 International TSC Consensus Conference and the subsequent update of international TSC diagnostic criteria, along with surveillance and management recommendations in 2021, the scientific diagnosis and treatment of TSC have been effectively implemented and disseminated in China.2 This successful translation of scientific research findings into clinical practice has notably improved the quality of life for patients with this rare disease in China.
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