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Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5\u2010point Likert tool that assesses the quality of life of families with children with disabilities across five domains. The Barthel index score was 41.8\u2009\u00b1\u200931.6, indicating severe dependence. The overall FQoL was 4.04\u2009\u00b1\u20090.47. Families reported higher scores in the family interaction (4.32\u2009\u00b1\u20090.50), parenting (4.23\u2009\u00b1\u20090.47), and disability\u2010related support (4.16\u2009\u00b1\u20090.65) domains and lower scores in the emotional well\u2010being (3.47\u2009\u00b1\u20090.80) and physical\/material well\u2010being (3.83\u2009\u00b1\u20090.74) domains. Parents living together, the father having completed higher education, and congenital heart disease explained 31.3% of the variance in the overall FQoL scores (<jats:italic>R<\/jats:italic>\n<jats:sup>2<\/jats:sup>\u2009=\u20090.313, <jats:italic>F<\/jats:italic>(3,63)\u2009=\u20099.556, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). The physical and material conditions of the families, and consequently their quality of life, could be improved through investments in social policies, better transportation, educational and healthcare services, and human and material resources. Lastly, we recommend providing psychological support to all family members to enhance emotional well\u2010being and strengthen family resilience.<\/jats:p>","DOI":"10.1002\/ajmg.a.64120","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T04:29:32Z","timestamp":1747801772000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5008-4837","authenticated-orcid":false,"given":"Aline","family":"Apis","sequence":"first","affiliation":[{"name":"Department of Medicine Universidade Federal de S\u00e3o Carlos (UFSCar)  S\u00e3o Carlos S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1230-1113","authenticated-orcid":false,"given":"Beatriz Carvalho","family":"Nunes","sequence":"additional","affiliation":[{"name":"Genetics Division, Departament of Morphology and Genetics, Escola Paulista de Medicina Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2104-4059","authenticated-orcid":false,"given":"Thain\u00e1","family":"Vilella","sequence":"additional","affiliation":[{"name":"Genetics Division, Departament of Morphology and Genetics, Escola Paulista de Medicina Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2241-4821","authenticated-orcid":false,"given":"Rafaela Catelan Martins","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Medicine Universidade Federal de S\u00e3o Carlos (UFSCar)  S\u00e3o Carlos S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6835-8138","authenticated-orcid":false,"given":"Rui Fernando","family":"Pilotto","sequence":"additional","affiliation":[{"name":"Department of Genetics Universidade Federal do Paran\u00e1 (UFPR)  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7282-420X","authenticated-orcid":false,"given":"Lucimar Retto da Silva","family":"de Av\u00f3","sequence":"additional","affiliation":[{"name":"Department of Medicine Universidade Federal de S\u00e3o Carlos (UFSCar)  S\u00e3o Carlos S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4344-9698","authenticated-orcid":false,"given":"Maria Isabel","family":"Melaragno","sequence":"additional","affiliation":[{"name":"Genetics Division, Departament of Morphology and Genetics, Escola Paulista de Medicina Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5030-7164","authenticated-orcid":false,"given":"Carla Maria Ramos","family":"Germano","sequence":"additional","affiliation":[{"name":"Department of Medicine Universidade Federal de S\u00e3o Carlos (UFSCar)  S\u00e3o Carlos S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7005-3544","authenticated-orcid":false,"given":"D\u00e9bora Gusm\u00e3o","family":"Melo","sequence":"additional","affiliation":[{"name":"Genetics Division, Departament of Morphology and Genetics, Escola Paulista de Medicina Universidade Federal de S\u00e3o Paulo (UNIFESP)  S\u00e3o Paulo Brazil"},{"name":"Instituto\u202fNacional\u202fde\u202fGen\u00e9tica\u202fM\u00e9dica\u202fPopulacional\u202f(INAGEMP)  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32224"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/19371918.2018.1562399"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010019\u20100643\u2010z"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/scd.12400"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1037\/a0034094"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(19)31243\u20107"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/13668250.2010.529803"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1037\/fam0000954"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12016"},{"volume-title":"GeneReviews","year":"2005","author":"Deardorff M. 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