RESEARCH ARTICLE Functional Independence of Taiwanese Children With VACTERL Association Hsin-Yi Lin, 1,2 Shuan-Pei Lin, 1,3,4,5 * Hsiang-Yu Lin, 1,3,4,5,6,7 Chyong-Hsin Hsu, 1 Jui-Hsing Chang, 1 Hsin-An Kao, 1 Han-Yang Hung, 1 Chun-Chih Peng, 1 Hung-Chang Lee, 1,8 Ming-Ren Chen, 1,4 and Jeng-Daw Tsai 1,8 1 Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan 2 Department of Pediatrics, DOH Taipei Hospital, New Taipei City, Taiwan 3 Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan 4 Mackay Medicine, Nursing and Management College, Taipei, Taiwan 5 Department of Medicine, Mackay Medical College, New Taipei City, Taiwan 6 Department of Infant and Child Care, National Taipei College of Nursing, Taipei, Taiwan 7 Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan 8 Department of Pediatrics, Taipei Medical University, Taipei, Taiwan Received 4 February 2010; Accepted 7 July 2010 VACTERL association is a non-random association of birth defects, which may include anomalies of the vertebral column, limbs, kidneys, and heart; anal atresia; tracheoesophageal fistula; and esophageal atresia. The presence of two or more of the defects establishes the diagnosis. The aim of our study is to describe the functional independence of children with VACTERL association and compare the results to unaffected children. These results will enable clinicians to provide more realistic prognostic informa- tion to parents and families. We used the WeeFIM questionnaire to assess the functional skills of 23 patients who had been diagnosed with VACTERL association at Mackay Memorial Hospital, Taipei, Taiwan, from June 1994 to June 2009. The total WeeFIM scores and sub-scores for three domains (self-care, mobility, and cognition) correlated significantly with age (P < 0.01). The scores were generally within the same range as those of unaffected Chinese children, although our subjects had slightly inferior scores on six items, including bowel, chair transfer, stairs, expression, social interaction, and problem solving. In conclusion, the daily functional skills of Taiwanese children with VACTERL association were similar to those of unaffected children. Ó 2012 Wiley Periodicals, Inc. Key words: anus; imperforate; congenital heart defect; tracheo- esophageal fistula; independent living; pediatrics INTRODUCTION The VATER association is a non-random association of congenital anomalies, originally described by Quan and Smith [1973]. The name is an acronym for vertebral anomalies, anal atresia, trache- oesophageal fistula (TEF) (and/or esophageal atresia), and renal or/and radial anomalies. Kaufman [1973] and Nora and Nora [1975] added C for cardiovascular anomalies and L for limb anomalies, leaving R for renal anomalies in the expanded name VACTERL association. VACTERL is diagnosed when a child is found to have two or more of the component defects [Khoury et al., 1983; Holmes, 1986], usually with at least one being TEF or anal atresia. An obvious concern for the parent of a child with a congenital anomaly is how well that child will function in life. In some cases, parents might decide to abandon such a child due to this condition. The families with Chinese traditional ideas think that they must have done something wrong in their previous life or even that it is a curse if there is a child with congenital anomaly in a ‘‘normal family.’’ Besides, the long-term care system in Taiwan is still not well *Correspondence to: Shuan-Pei Lin, M.D., Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Chung-Shan North Road, Taipei 10449, Taiwan. E-mail: zsplin@ms2.mmh.org.tw Article first published online in Wiley Online Library (wileyonlinelibrary.com): 19 November 2012 DOI 10.1002/ajmg.a.33643 How to Cite this Article: Lin H-Y, Lin S-P, Lin H-Y, Hsu C-H, Chang J-H, Kao H-A, Hung H-Y, Peng C-C, Lee H-C, Chen M-R, Tsai J-D. 2012. Functional independence of Taiwanese children with VACTERL association. Am J Med Genet Part A 158A:3101–3105. Ó 2012 Wiley Periodicals, Inc. 3101