Assessment of quality of life using the Kidslife scale in individuals with Cornelia de Lange syndrome
Trujillano, Laura ; Ayerza-Casas, Ariadna (Universidad de Zaragoza) ; Puisac, Beatriz (Universidad de Zaragoza) ; Latorre-Pellicer, Ana (Universidad de Zaragoza) ; Arnedo, María (Universidad de Zaragoza) ; Lucia-Campos, Cristina ; Gil-Salvador, Marta (Universidad de Zaragoza) ; Parenti, Ilaria ; Kaiser, Frank J. ; Ramos, Feliciano J. (Universidad de Zaragoza) ; Trujillano, Javier ; Pié, Juan (Universidad de Zaragoza)
Resumen: Background: 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
Idioma: Inglés
DOI: 10.7759/cureus.57378
Año: 2024
Publicado en: Cureus 16, 4 (2024), e57378 [13 p.]
ISSN: 2168-8184
Tipo y forma: Article (Published version)
Área (Departamento): Área Fisiología (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
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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
Idioma: Inglés
DOI: 10.7759/cureus.57378
Año: 2024
Publicado en: Cureus 16, 4 (2024), e57378 [13 p.]
ISSN: 2168-8184
Tipo y forma: Article (Published version)
Área (Departamento): Área Fisiología (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)
You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. Exportado de SIDERAL (2024-05-16-08:53:53)
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Record created 2024-05-16, last modified 2024-05-16