000170008 001__ 170008
000170008 005__ 20260316092629.0
000170008 0247_ $$2doi$$a10.3390/bs16020250
000170008 0248_ $$2sideral$$a148619
000170008 037__ $$aART-2026-148619
000170008 041__ $$aeng
000170008 100__ $$adel Rincón, Julia
000170008 245__ $$aAssessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers’ and Fathers’ Perspectives
000170008 260__ $$c2026
000170008 5060_ $$aAccess copy available to the general public$$fUnrestricted
000170008 5203_ $$aPACS1 Syndrome is an ultra-rare neurodevelopmental disorder characterized by intellectual disability, behavioral disturbances, and multisystem involvement. While clinical knowledge is growing, its impact on quality of life (QoL) has not been systematically evaluated, and it is critical to understand the lived experience and psychosocial well-being of these individuals beyond strictly medical outcomes. This study aimed to assess QoL in individuals aged 4–21 years with PACS1 Syndrome using the validated KidsLife scale, proxy-reported by primary caregivers, given the intellectual disabilities and communicative limitations of this population. Twenty-one participants from Spain and other countries were recruited through the Spanish PACS1 Association, and 39 questionnaires from mothers and fathers were analyzed. The KidsLife scale provides standardized scores across eight QoL domains and a global QoL index (QoLI). The mean QoLI was 48.1 ± 28.3, slightly below the median for individuals with intellectual disability, but higher than other neurodevelopmental disorders such as Cornelia de Lange Syndrome. The findings revealed a pattern: while domains related to social inclusion, rights, and physical and material well-being were relatively preserved, reflecting adequate care and access to resources, the most significant compromises were observed in autonomy-related domains, specifically self-determination, interpersonal relationships, and personal development. Most individuals showed a high degree of dependency, and those with greater dependency exhibited lower QoL scores. This situation led more than half of families to reduce their working hours, with caregiving responsibilities disproportionately falling on mothers. Although no statistically significant differences were found between parental ratings, mothers tended to report higher QoL. These findings reflect the substantial functional impact of PACS1 Syndrome and emphasize the need for multidisciplinary support to improve autonomy, social participation, and overall well-being.
000170008 536__ $$9info:eu-repo/grantAgreement/ES/DGA-FEDER/B32-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/PI23-01370$$9info:eu-repo/grantAgreement/ES/UZ/JIUZ2023-SAL-06
000170008 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttps://creativecommons.org/licenses/by/4.0/deed.es
000170008 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000170008 700__ $$aTrujillano, Laura
000170008 700__ $$aLucia-Campos, Cristina$$uUniversidad de Zaragoza
000170008 700__ $$aXiang, Isabel
000170008 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, Ana$$uUniversidad de Zaragoza
000170008 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, Beatriz$$uUniversidad de Zaragoza
000170008 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, María$$uUniversidad de Zaragoza
000170008 700__ $$0(orcid)0000-0001-6858-1575$$aGil-Salvador, Marta
000170008 700__ $$aAcero, Laura$$uUniversidad de Zaragoza
000170008 700__ $$aPamplona, Pilar$$uUniversidad de Zaragoza
000170008 700__ $$0(orcid)0000-0002-0023-8137$$aAyerza-Casas, Ariadna$$uUniversidad de Zaragoza
000170008 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza
000170008 700__ $$0(orcid)0000-0003-3203-6254$$aPié, Juan$$uUniversidad de Zaragoza
000170008 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000170008 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000170008 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000170008 773__ $$g16, 2 (2026), 250 [14 pp.]$$tBehavioral Sciences$$x2076-328X
000170008 8564_ $$s349480$$uhttps://zaguan.unizar.es/record/170008/files/texto_completo.pdf$$yVersión publicada
000170008 8564_ $$s2610729$$uhttps://zaguan.unizar.es/record/170008/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000170008 909CO $$ooai:zaguan.unizar.es:170008$$particulos$$pdriver
000170008 951__ $$a2026-03-16-08:16:44
000170008 980__ $$aARTICLE