{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T17:31:11Z","timestamp":1777483871656,"version":"3.51.4"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T00:00:00Z","timestamp":1646611200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Familial occurrence of Hirschsprung's disease may have a positive effect on patients' ability to cope with the disease. The aim was to compare long-term bowel function and generic quality of life between patients with familial and non-familial Hirschsprung's disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a nationwide, cross-sectional study in which we included all 830 Hirschsprung patients of 8 years and older who had undergone surgery between 1957 and 2015. We excluded patients with a permanent stoma, intellectual disability, or an unknown or foreign address. We requested patients to complete the validated pediatric or adult Defecation and Fecal Continence questionnaire and the Child Health Questionnaire Child Form-87, or the World Health Organization Quality of Life-100 Assessment Instrument.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We analyzed 336 Hirschsprung patients, 15.8% of whom were familial cases and 84.2% were non-familial cases. After adjusting for aganglionic length, sex, and age, patients with familial Hirschsprung's disease were twice more likely to suffer from constipation (OR = 2.47, 95% CI, 1.21\u20135.05, <jats:italic>p<\/jats:italic> = 0.013). The quality of life of the pediatric patients was comparable, but in adult patients the energy\/fatigue, thinking\/learning\/concentration, and work capacity facets showed better scores in the familial patients with Hirschsprung's disease of the rectosigmoid (<jats:italic>p<\/jats:italic> = 0.029, <jats:italic>p<\/jats:italic> = 0.024, <jats:italic>p<\/jats:italic> = 0.036, respectively).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Different facets of generic quality of life are better in adult patients with familial Hirschsprung's disease of the rectosigmoid. It seems that familial experience with the disease influences patients' coping abilities positively.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.820976","type":"journal-article","created":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T05:38:40Z","timestamp":1646631520000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Familial Experience With Hirschsprung's Disease Improves the Patient's Ability to Cope"],"prefix":"10.3389","volume":"10","author":[{"given":"Sanne J.","family":"Verkuijl","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rob J.","family":"Meinds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alida F. W.","family":"van der Steeg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelius E. J.","family":"Sloots","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ernst","family":"van Heurn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo","family":"de Blaauw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim G.","family":"van Gemert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieke J.","family":"Witvliet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin M.","family":"Vermeulen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Trzpis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul M. A.","family":"Broens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,3,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1038\/nrgastro.2017.149","article-title":"Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes","volume":"15","author":"Heuckeroth","year":"2018","journal-title":"Nat Rev Gastroenterol Hepatol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.2007.053959","article-title":"Hirschsprung disease, associated syndromes and genetics: a review","volume":"45","author":"Amiel","year":"2008","journal-title":"J Med Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1007\/s00383-015-3730-z","article-title":"Familial Hirschsprung's disease: a systematic review","volume":"31","author":"Mc Laughlin","year":"2015","journal-title":"Pediatr Surg Int."},{"key":"B4","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/j.jpedsurg.2007.10.021","article-title":"A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling","volume":"43","author":"Moore","year":"2008","journal-title":"J Pediatr Surg."},{"key":"B5","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1542\/peds.2006-0212","article-title":"Explaining change in quality of life of children and adolescents with anorectal malformations or Hirschsprung disease","volume":"119","author":"Hartman","year":"2007","journal-title":"Pediatrics."},{"key":"B6","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1016\/j.jpedsurg.2015.07.020","article-title":"Cloacal malformation patients report similar quality of life as female patients with less complex anorectal malformations","volume":"51","author":"Versteegh","year":"2016","journal-title":"J Pediatr Surg."},{"key":"B7","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1097\/SLA.0000000000001695","article-title":"Bowel function and quality of life after transanal endorectal pull-through for Hirschsprung disease: controlled outcomes up to adulthood","volume":"265","author":"Neuvonen","year":"","journal-title":"Ann Surg."},{"key":"B8","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1002\/bjs.11059","article-title":"Long-term functional outcomes and quality of life in patients with Hirschsprung's disease","volume":"106","author":"Meinds","year":"2019","journal-title":"Br J Surg."},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000003355","article-title":"Functional outcomes after surgery for total colonic, long-segment, versus rectosigmoid segment Hirschsprung's disease","author":"Verkuijl","year":"2021","journal-title":"J Pediatr Gastroenterol Nutr."},{"key":"B10","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1080\/00365521.2018.1465993","article-title":"Reproducibility, feasibility and validity of the Groningen Defecation and Fecal Continence questionnaires","volume":"53","author":"Meinds","year":"2018","journal-title":"Scand J Gastroenterol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s00431-018-3243-6","article-title":"The problem of defecation disorders in children is underestimated and easily goes unrecognized: a cross-sectional study","volume":"178","author":"Timmerman","year":"2019","journal-title":"Eur J Pediatr."},{"key":"B12","volume-title":"The CHQ User Manual","author":"Landgraf","year":"1996"},{"key":"B13","volume-title":"De Nederlandse versie van de WHOQOL-100 (The Dutch version of the WHOQOL-100)","author":"De Vries","year":"1995"},{"key":"B14","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1586\/14737167.7.4.393","article-title":"Self-report form of the Child Health Questionnaire in a Dutch adolescent population","volume":"7","author":"Hosli","year":"2007","journal-title":"Expert Rev Pharmacoecon Outcomes Res."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1569","DOI":"10.1016\/S0277-9536(98)00009-4","volume":"46","year":"1998","journal-title":"Soc Sci Med"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1053\/j.gastro.2016.02.031","article-title":"Bowel disorders","volume":"150","author":"Mearin","year":"2016","journal-title":"Gastroenterology"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1430","DOI":"10.1053\/j.gastro.2016.02.009","article-title":"Functional anorectal disorders","volume":"150","author":"Rao","year":"2016","journal-title":"Gastroenterology."},{"key":"B18","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1007\/BF02056950","article-title":"A constipation scoring system to simplify evaluation and management of constipated patients","volume":"39","author":"Agachan","year":"1996","journal-title":"Dis Colon Rectum."},{"key":"B19","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1007\/BF02050307","article-title":"Etiology and management of fecal incontinence","volume":"36","author":"Jorge","year":"1993","journal-title":"Dis Colon Rectum."},{"key":"B20","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1007\/BF00182219","article-title":"Bowel function and quality of life in adult patients with operated Hirschsprung's disease","volume":"10","author":"Heikkinen","year":"1995","journal-title":"Pediatr Surg Int."},{"key":"B21","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1053\/j.sempedsurg.2012.07.008","article-title":"Long-term outcomes of Hirschsprung's disease","volume":"21","author":"Rintala","year":"2012","journal-title":"Semin Pediatr Surg."},{"key":"B22","doi-asserted-by":"publisher","first-page":"2273","DOI":"10.1111\/j.1440-1746.2006.04750.x","article-title":"Long-term continence after surgery for Hirschsprung's disease","volume":"22","author":"Catto-Smith","year":"2007","journal-title":"J Gastroenterol Hepatol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1097\/SLA.0b013e3182018542","article-title":"Bowel function and gastrointestinal quality of life among adults operated for Hirschsprung disease during childhood: a population-based study","volume":"252","author":"Jarvi","year":"2010","journal-title":"Ann Surg."},{"key":"B24","doi-asserted-by":"publisher","first-page":"2430","DOI":"10.1016\/j.jpedsurg.2018.08.036","article-title":"The long-term quality of life outcomes in adolescents with Hirschsprung disease","volume":"53","author":"Sood","year":"2018","journal-title":"J Pediatr Surg."},{"key":"B25","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/j.jpedsurg.2007.12.038","article-title":"Long-term bowel function and quality of life in children with Hirschsprung's disease","volume":"43","author":"Mills","year":"2008","journal-title":"J Pediatr Surg."},{"key":"B26","doi-asserted-by":"publisher","first-page":"2006","DOI":"10.1016\/j.jpedsurg.2017.08.043","article-title":"Quality of life outcomes in children with Hirschsprung disease","volume":"52","author":"Collins","year":"2017","journal-title":"J Pediatr Surg."},{"key":"B27","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1136\/adc.2007.118133","article-title":"Quality of life and disease-specific functioning of patients with anorectal malformations or Hirschsprung's disease: a review","volume":"96","author":"Hartman","year":"2011","journal-title":"Arch Dis Child."},{"key":"B28","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.jpedsurg.2020.05.015","article-title":"Reaching adulthood with Hirschsprung's disease: patient experiences and recommendations for transitional care","volume":"56","author":"Hoel","year":"2021","journal-title":"J Pediatr Surg."},{"key":"B29","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1055\/s-0033-1353491","article-title":"Anxiety and quality of life of parents with children diagnosed with an anorectal malformation or Hirschsprung disease","volume":"24","author":"Witvliet","year":"2014","journal-title":"Eur J Pediatr Surg."},{"key":"B30","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s00383-020-04836-4","article-title":"Analysis of patients' and caregivers' psychosocial functioning in colorectal conditions: comparison of diagnosis, gender, and developmental functioning","volume":"37","author":"Judd-Glossy","year":"2021","journal-title":"Pediatr Surg Int."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.820976\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T05:38:44Z","timestamp":1646631524000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.820976\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,7]]},"references-count":30,"alternative-id":["10.3389\/fped.2022.820976"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.820976","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,7]]},"article-number":"820976"}}