{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T13:11:13Z","timestamp":1785849073379,"version":"3.56.0"},"reference-count":44,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T00:00:00Z","timestamp":1682467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The aim of the present study was to investigate the nature and prevalence of nonspecific somatic symptoms, pain and catastrophizing in children with Heritable Connective Tissue Disorders (HCTD), and to determine their association with disability. This observational, multicenter study included 127 children, aged 4\u201318\u2009years, with Marfan syndrome (MFS) (59%), Loeys\u2010Dietz syndrome (LDS) (8%), Ehlers\u2010Danlos syndromes (EDS) (12%) and hypermobile Ehlers\u2010Danlos syndrome (hEDS) (23%). The assessments included the Children's Somatization Inventory or parent proxy (CSI, PCSI), pain visual\u2010analogue scale (VAS), SUPERKIDZ body diagram, Pain Catastrophizing Scale Child or parent proxy (PCS\u2010C, PCS\u2010P) and Childhood Health Assessment Questionnaire (CHAQ\u201030). Data from children aged \u22658\u2009years were compared to normative data. In children \u2265 8 years (<jats:italic>n<\/jats:italic> = 90), pain was present in 59%, with a median of 4 (IQR\u2009=\u20093\u20139) pain areas. Compared to normative data, the HCTD group reported significantly higher on the CSI (<jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001, d\u2009=\u20090.85), VAS pain intensity (<jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001, d\u2009=\u20091.22) and CHAQ\u201030\u00a0(<jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001, d\u2009=\u20091.16) and lower on the PCS\u2010C (<jats:italic>p<\/jats:italic>\u2009=\u20090.017, d\u2009=\u2009\u22120.82) and PCS\u2010P (<jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001, d\u2009=\u2009\u22120.49). The intensity of nonspecific somatic symptoms and pain explained 45% of the variance in disability (<jats:italic>r<\/jats:italic><jats:sup>2<\/jats:sup>\u2009=\u20090.45\u2009F(2,48)\u2009=\u200919.70, <jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001). In children \u2264 7 years (<jats:italic>n<\/jats:italic> = 37), \u2009 pain was present in 35% with a median of 5(IQR\u2009=\u20091\u201313) pain areas. The mean(<jats:italic>SD<\/jats:italic>) VAS scores for pain intensity was 1.5(2.9). Functional disability was moderately correlated to the number of pain areas (<jats:italic>r<\/jats:italic>\u2009=\u20090.56, <jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001), intensity of nonspecific somatic symptoms (<jats:italic>r<\/jats:italic>\u2009=\u20090.63, <jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001) and pain (<jats:italic>r<\/jats:italic>\u2009=\u20090.83, <jats:italic>p<\/jats:italic>\u2009\u2264\u20090.001). In conclusion, this study supports the need for comprehensive assessment of nonspecific somatic symptoms, pain, and disability in children with HCTD to allow tailored treatment.<\/jats:p>","DOI":"10.1002\/ajmg.a.63204","type":"journal-article","created":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T11:07:31Z","timestamp":1682507251000},"page":"1792-1803","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5907-6892","authenticated-orcid":false,"given":"Lisanne E.","family":"de Koning","sequence":"first","affiliation":[{"name":"Centre of Expertise Urban Vitality, Faculty of Health Amsterdam University of Applied Sciences  Amsterdam The Netherlands"},{"name":"Department of Rehabilitation Medicine Amsterdam UMC, Location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7597-3443","authenticated-orcid":false,"given":"Jessica","family":"Warnink\u2010Kavelaars","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine Amsterdam UMC, Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Movement Sciences, Rehabilitation and Development  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion A.","family":"van Rossum","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emma Children's Hospital, Academic Medical Center  Amsterdam The Netherlands"},{"name":"Amsterdam Rheumatology and Immunology Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diederik","family":"Bosman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emma Children's Hospital, Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonie A.","family":"Menke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emma Children's Hospital, Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Ghent University Hospital\/Ghent University  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"de Boer","sequence":"additional","affiliation":[{"name":"Centre of Expertise Urban Vitality, Faculty of Health Amsterdam University of Applied Sciences  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaap","family":"Oosterlaan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow\u2010Me Program &amp; Emma Neuroscience Group, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development Research Institute  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul H. 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