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This observational multicenter study included 126 children, aged 4\u201318\u2009years, with Marfan syndrome (MFS, <jats:italic>n<\/jats:italic>\u00a0=\u00a074), Loeys\u2013Dietz syndrome (<jats:italic>n<\/jats:italic>\u00a0=\u00a08), molecular confirmed Ehlers\u2013Danlos syndromes (<jats:italic>n<\/jats:italic>\u00a0=\u00a015), and hypermobile Ehlers\u2013Danlos syndrome (hEDS, <jats:italic>n<\/jats:italic>\u00a0=\u00a029). HRQoL and mental health were assessed through the parent and child\u2010reported Child Health Questionnaires (CHQ\u2010PF50 and CHQ\u2010CF45, respectively) and the parent\u2010reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent\u2010reported HRQoL of the HCTD\u2010group showed significantly decreased Physical sum scores (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001, <jats:italic>d<\/jats:italic>\u00a0=\u00a00.9) and Psychosocial sum scores (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.024, <jats:italic>d<\/jats:italic>\u00a0=\u00a00.2), indicating decreased HRQoL. Similar findings were obtained for child\u2010reported HRQoL. The parent\u2010reported mental health of the HCTD\u2010group showed significantly increased Total difficulties sum scores (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.01, <jats:italic>d<\/jats:italic>\u00a0=\u00a00.3), indicating decreased mental health. While the male and female MFS\u2010 and hEDS\u2010subgroups both reported decreased HRQoL, only the hEDS\u2010subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions.<\/jats:p>","DOI":"10.1002\/ajmg.a.62750","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T08:58:12Z","timestamp":1649408292000},"page":"2096-2109","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Heritable connective tissue disorders in childhood: Decreased health\u2010related quality of life and mental health"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7597-3443","authenticated-orcid":false,"given":"Jessica","family":"Warnink\u2010Kavelaars","sequence":"first","affiliation":[{"name":"Amsterdam UMC location University of Amsterdam, Department of Rehabilitation Medicine  Amsterdam The Netherlands"},{"name":"Amsterdam Movement Sciences Rehabilitation and Development  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisanne E.","family":"de Koning","sequence":"additional","affiliation":[{"name":"Center of Expertise Urban Vitality Amsterdam University of Applied Sciences, Faculty of Health  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies","family":"Rombaut","sequence":"additional","affiliation":[{"name":"Ghent University Hospital, Ghent University, Center for Medical Genetics  Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonie A.","family":"Menke","sequence":"additional","affiliation":[{"name":"Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Department of Pediatrics  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattijs W.","family":"Alsem","sequence":"additional","affiliation":[{"name":"Amsterdam UMC location University of Amsterdam, Department of Rehabilitation Medicine  Amsterdam The Netherlands"},{"name":"Amsterdam Movement Sciences Rehabilitation and Development  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hedy A.","family":"van Oers","sequence":"additional","affiliation":[{"name":"Amsterdam UMC, location University of Amsterdam, Emma Children's Hospital, Child and Adolescent Psychiatry &amp; Psychosocial Care  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development, Amsterdam Public Health  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke I.","family":"Buizer","sequence":"additional","affiliation":[{"name":"Amsterdam Movement Sciences Rehabilitation and Development  Amsterdam The Netherlands"},{"name":"Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Rehabilitation Medicine  Amsterdam The Netherlands"},{"name":"Emma Children's Hospital, Amsterdam UMC, location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul H. H.","family":"Engelbert","sequence":"additional","affiliation":[{"name":"Amsterdam UMC location University of Amsterdam, Department of Rehabilitation Medicine  Amsterdam The Netherlands"},{"name":"Amsterdam Movement Sciences Rehabilitation and Development  Amsterdam The Netherlands"},{"name":"Center of Expertise Urban Vitality Amsterdam University of Applied Sciences, Faculty of Health  Amsterdam The Netherlands"},{"name":"Emma Children's Hospital, Amsterdam UMC, location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaap","family":"Oosterlaan","sequence":"additional","affiliation":[{"name":"Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Emma Children's Hospital Amsterdam UMC Follow\u2010Me program &amp; Emma Neuroscience Group  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development research institute  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Pediatric Heritable Connective Tissue Disorder study group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-011-1839-5"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12891-015-0549-7"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37774"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31544"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33231"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31539"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12888-016-0922-6"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2013.09.009"},{"key":"e_1_2_10_10_1","volume-title":"Discovering statistics using IBM SPSS statistics","author":"Field A. 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