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    Por favor, use este identificador para citar o enlazar este ítem:https://uvadoc.uva.es/handle/10324/64480

    Título
    Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
    Autor
    Epifani, Florencia
    Pujol Serra, Susana María
    Llorens, Marta
    Balcells, Sol
    Nolasco, Gregorio
    Bolasell, Mercè
    Aguilera-Albesa, Sergio
    Cuevas Cervera, José Luis
    García Sánchez, Verónica
    Garcia, Oscar
    Miranda-Herrero, María Concepción
    Moreno-Lozano, Pedro J.
    Robles, Bernabé
    Roldán Aparicio, Susana
    Velázquez Fragua, Ramón
    Serrano, Mercedes
    Cancho Candela, RamónAutoridad UVA
    Año del Documento
    2023
    Documento Fuente
    Scientific Reports. 2023 Dec 20;13(1):22783
    Resumen
    Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics. Assessment tools included ICARS for the cerebellar syndrome and NPCRS for global disease severity. Behavioral and adaptive evaluation consisted of the Vineland Adaptive Behavior Scale and the Health of the Nation Outcome Scales. Psychopathological screening involved the Child Behavior Checklist and the Symptom Check-List-90-R. Parental stress was evaluated using Parental Stress Index. Results were correlated with clinical features. No significant age or sex differences were found. ‘Daily living skills’ were notably affected. Patients severely affected exhibited lower adaptive skill values, as did those with lipodystrophy and inverted nipples. Greater severity in motor cerebellar syndrome, behavioral disturbances and the presence of comorbidities such as hyperactivity, autistic features and moderate-to-severe intellectual disability correlated with greater parental stress. Our study found no decline in adaptive abilities. We provide tools to assess adaptive deficits in PMM2-CDG patients, emphasizing the importance of addressing communication, daily living skills, and autonomy, and their impact on parental stress in clinical monitoring and future therapies.
    Revisión por pares
    SI
    DOI
    10.1038/s41598-023-49518-y
    Idioma
    spa
    URI
    https://uvadoc.uva.es/handle/10324/64480
    Tipo de versión
    info:eu-repo/semantics/draft
    Derechos
    openAccess
    Aparece en las colecciones
    • DEP55 - Artículos de revista [213]
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    Nombre:
    2023 untangling PMM-CDG scientifc reports.pdf
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    2.196Mb
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