000135183 001__ 135183
000135183 005__ 20240516095249.0
000135183 0247_ $$2doi$$a10.7759/cureus.57378
000135183 0248_ $$2sideral$$a138516
000135183 037__ $$aART-2024-138516
000135183 041__ $$aeng
000135183 100__ $$aTrujillano, Laura
000135183 245__ $$aAssessment of quality of life using the Kidslife scale in individuals with Cornelia de Lange syndrome
000135183 260__ $$c2024
000135183 5060_ $$aAccess copy available to the general public$$fUnrestricted
000135183 5203_ $$aBackground: Cornelia de Lange syndrome (CdLS) is a rare polymalformative genetic disorder with multisystemic involvement. Despite numerous clinical and molecular studies, the specific evaluation of the quality of life (QoL) and its relationship with syndrome-specific risk factors has not been explored.
Methods: The QoL of 33 individuals diagnosed with CdLS, aged between 4 and 21 years, was assessed using the Kidslife questionnaire. Specifically, the influence of 14 risk factors on overall QoL and 8 of its domains was analyzed.
Results: The study revealed below-median QoL (45.3 percentile), with the most affected domains being physical well-being, personal development, and self-determination. When classifying patients based on their QoL and affected domains, variants in the NIPBL gene, clinical scores ≥11, and severe behavioral and communication issues were found to be the main risk factors.
Conclusions: We emphasize the need for a comprehensive approach to CdLS that encompasses clinical, molecular, psychosocial, and emotional aspects. The "Kidslife questionnaire" proved to be a useful tool for evaluating QoL, risk factors, and the effectiveness of implemented strategies. In this study, we underscore the importance of implementing corrective measures to improve the clinical score. Furthermore, we highlight the necessity of applying specific therapies for behavioral problems after ruling out underlying causes such as pain or gastroesophageal reflux and implementing measures that facilitate communication and promote social
000135183 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000135183 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000135183 700__ $$0(orcid)0000-0002-0023-8137$$aAyerza-Casas, Ariadna$$uUniversidad de Zaragoza
000135183 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, Beatriz$$uUniversidad de Zaragoza
000135183 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, Ana$$uUniversidad de Zaragoza
000135183 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, María$$uUniversidad de Zaragoza
000135183 700__ $$aLucia-Campos, Cristina
000135183 700__ $$0(orcid)0000-0001-6858-1575$$aGil-Salvador, Marta$$uUniversidad de Zaragoza
000135183 700__ $$aParenti, Ilaria
000135183 700__ $$aKaiser, Frank J.
000135183 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza
000135183 700__ $$aTrujillano, Javier
000135183 700__ $$0(orcid)0000-0003-3203-6254$$aPié, Juan$$uUniversidad de Zaragoza
000135183 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000135183 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000135183 773__ $$g16, 4 (2024), e57378 [13 p.]$$pCureus$$tCureus$$x2168-8184
000135183 8564_ $$s490884$$uhttps://zaguan.unizar.es/record/135183/files/texto_completo.pdf$$yVersión publicada
000135183 8564_ $$s2348449$$uhttps://zaguan.unizar.es/record/135183/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000135183 909CO $$ooai:zaguan.unizar.es:135183$$particulos$$pdriver
000135183 951__ $$a2024-05-16-08:53:53
000135183 980__ $$aARTICLE