Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome

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 explor...

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Autores: Trujillano, Laura, Ayerza-Casas, Ariadna, Puisac, Beatriz, Latorre-Pellicer, Ana, Arnedo, Maria, Lucia-Campos, Cristina, Gil-Salvador, Marta, Parenti, Ilaria, Kaiser, Frank J., Ramos, Feliciano J., Trujillano Cabello, Javier, Pie, Juan
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Universitat de Lleida (UdL)
Repositorio:Repositori Obert UdL
OAI Identifier:oai:repositori.udl.cat:10459.1/466304
Acceso en línea:https://doi.org/10.7759/cureus.57378
https://hdl.handle.net/10459.1/466304
Access Level:acceso abierto
Palabra clave:Clinical features
Cornelia de lange syndrome
Intellectual disability
Kidslife
Quality of life
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spelling Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange SyndromeTrujillano, LauraAyerza-Casas, AriadnaPuisac, BeatrizLatorre-Pellicer, AnaArnedo, MariaLucia-Campos, CristinaGil-Salvador, MartaParenti, IlariaKaiser, Frank J.Ramos, Feliciano J.Trujillano Cabello, JavierPie, JuanClinical featuresCornelia de lange syndromeIntellectual disabilityKidslifeQuality of lifeBackground: 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 interaction.Springer2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://doi.org/10.7759/cureus.57378https://hdl.handle.net/10459.1/466304reponame:Repositori Obert UdL instname:Universitat de Lleida (UdL)InglésReproducció del document publicat a: https://doi.org/10.7759/cureus.57378Cureus: Journal of Medical Science, 2024, vol. 16, núm. 4cc-by (c) authors, 2024Attribution 4.0 Internationalinfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/oai:repositori.udl.cat:10459.1/4663042026-06-24T12:42:17Z
dc.title.none.fl_str_mv Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
title Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
spellingShingle Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
Trujillano, Laura
Clinical features
Cornelia de lange syndrome
Intellectual disability
Kidslife
Quality of life
title_short Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
title_full Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
title_fullStr Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
title_full_unstemmed Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
title_sort Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome
dc.creator.none.fl_str_mv Trujillano, Laura
Ayerza-Casas, Ariadna
Puisac, Beatriz
Latorre-Pellicer, Ana
Arnedo, Maria
Lucia-Campos, Cristina
Gil-Salvador, Marta
Parenti, Ilaria
Kaiser, Frank J.
Ramos, Feliciano J.
Trujillano Cabello, Javier
Pie, Juan
author Trujillano, Laura
author_facet Trujillano, Laura
Ayerza-Casas, Ariadna
Puisac, Beatriz
Latorre-Pellicer, Ana
Arnedo, Maria
Lucia-Campos, Cristina
Gil-Salvador, Marta
Parenti, Ilaria
Kaiser, Frank J.
Ramos, Feliciano J.
Trujillano Cabello, Javier
Pie, Juan
author_role author
author2 Ayerza-Casas, Ariadna
Puisac, Beatriz
Latorre-Pellicer, Ana
Arnedo, Maria
Lucia-Campos, Cristina
Gil-Salvador, Marta
Parenti, Ilaria
Kaiser, Frank J.
Ramos, Feliciano J.
Trujillano Cabello, Javier
Pie, Juan
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Clinical features
Cornelia de lange syndrome
Intellectual disability
Kidslife
Quality of life
topic Clinical features
Cornelia de lange syndrome
Intellectual disability
Kidslife
Quality of life
description 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 interaction.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://doi.org/10.7759/cureus.57378
https://hdl.handle.net/10459.1/466304
url https://doi.org/10.7759/cureus.57378
https://hdl.handle.net/10459.1/466304
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.7759/cureus.57378
Cureus: Journal of Medical Science, 2024, vol. 16, núm. 4
dc.rights.none.fl_str_mv cc-by (c) authors, 2024
Attribution 4.0 International
info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
rights_invalid_str_mv cc-by (c) authors, 2024
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:Repositori Obert UdL
instname:Universitat de Lleida (UdL)
instname_str Universitat de Lleida (UdL)
reponame_str Repositori Obert UdL
collection Repositori Obert UdL
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.81155

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