Review Article A Systematic Review of Studies of Quality of Life in Children and Adults with Selected Congenital Anomalies Svetlana V. Glinianaia, 1 * Nicholas D. Embleton, 1,2 and Judith Rankin 1 1 Institute of Health and Society, Newcastle University, Newcastle upon Tyne, United Kingdom 2 Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom Received 8 March 2012; Revised 12 April 2012; Accepted 17 April 2012 BACKGROUND: Few studies have assessed quality of life (QOL) for children born with major structural con- genital anomalies. We aimed to review studies reporting QOL in children and adults born with selected con- genital anomalies involving the digestive system. METHODS: Systematic review methods were applied to lit- erature searches, development of the data extraction protocol, and the review process. We included studies published in English (1990–2010), which used validated instruments to assess QOL in individuals born with congenital diaphragmatic hernia, esophageal atresia, duodenal atresia or abdominal wall defects. RESULTS: Of 200 papers identified through literature searches, 111 were excluded after applying restrictions and removing duplicates. After scanning 89 abstracts, 32 full-text papers were reviewed (none on duodenal atre- sia), of which 18 (nine in children or adolescents and nine in adults) were included. Studies measured health-related QOL, but did not assess subjective wellbeing. Instruments used to assess health-related QOL in children varied considerably. In adults most studies used the Short Form 36. Many studies had methodo- logical limitations, such as being from a single institution, retrospective cohorts, and low sample size. The summarized evidence suggests that health-related QOL of these children is affected by associated anomalies and ongoing morbidity resulting in lower physical functioning and general health perception. In adults, health-related QOL is comparable with the general population. CONCLUSIONS: The reviewed studies con- sidered health status and functioning as a major determinant of QOL. More studies assessing QOL in patients with major congenital anomalies are needed, and those involving children should use age-adjusted, validated instruments to measure both health-related QOL and self-reported subjective wellbeing. Birth Defects Research (Part A) 00:000–000, 2012. Ó 2012 Wiley Periodicals, Inc. Key words: quality of life; children and adult patients; congenital diaphragmatic hernia; esophageal atresia; duodenal atresia; abdominal wall defect INTRODUCTION Children born with congenital anomalies involving the digestive system, such as diaphragmatic hernia, esopha- geal atresia, duodenal atresia and severe abdominal wall defects, require surgical intervention within the first days of life and have a high risk of mortality depending on the precise lesion and the presence of associated anoma- lies (Clausner et al., 1996; Skari et al., 2000; Goyal et al., 2006). Clinical follow-up has tended to focus on func- tional status and long-term physical morbidity of the sur- vivors associated with respiratory complications, gastro- esophageal reflux disease, nutritional problems, growth Presented at the EUROCAT scientific symposium, 17 June 2011, Antwerp, Bel- gium; Perinatal Medicine 2011, June 15–17, 2011, Harrogate, United Kingdom; and the 52nd Annual Meeting of the European Society for Pediatric Research, October 14–17, 2011, Newcastle upon Tyne, United Kingdom. Supported by the U.K. National Institute for Health Research Newcastle upon Tyne Hospitals NHS Foundation Trust, Flexibility and Sustainability Funding. J.R. conceived the project. All authors (S.V.G., N.D.E., J.R.) had substantial contributions to: (1) design, acquisition of data (papers review and data extraction), and analysis and interpretation of data; (2) drafting the article (S.V.G.) or revising it critically for important intellectual content (N.D.E., J.R.); and (3) final approval of the version to be published. *Correspondence to: Svetlana V. Glinianaia, Institute of Health and Society, Newcastle University, Baddiley-Clark Building, Richardson Road, Newcastle upon Tyne, NE2 4AX, United Kingdom. E-mail: svetlana.glinianaia@ncl.ac.uk Published online in Wiley Online Library (wileyonlinelibrary. com). DOI: 10.1002/bdra.23030 Birth Defects Research (Part A): Clinical and Molecular Teratology 00:000000 (2012) Ó 2012 Wiley Periodicals, Inc. Birth Defects Research (Part A) 00:000000 (2012)