RT info:eu-repo/semantics/article
T1 Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
A1 Epifani, Florencia
A1 Pujol Serra, Susana María
A1 Llorens, Marta
A1 Balcells, Sol
A1 Nolasco, Gregorio
A1 Bolasell, Mercè
A1 Aguilera-Albesa, Sergio
A1 Cuevas Cervera, José Luis
A1 García Sánchez, Verónica
A1 Garcia, Oscar
A1 Miranda-Herrero, María Concepción
A1 Moreno-Lozano, Pedro J.
A1 Robles, Bernabé
A1 Roldán Aparicio, Susana
A1 Velázquez Fragua, Ramón
A1 Serrano, Mercedes
A1 Cancho Candela, Ramon
AB Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria,and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remainsunknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its associationwith parental stress and medical characteristics. Assessment tools included ICARS for the cerebellarsyndrome and NPCRS for global disease severity. Behavioral and adaptive evaluation consisted of theVineland Adaptive Behavior Scale and the Health of the Nation Outcome Scales. Psychopathologicalscreening involved the Child Behavior Checklist and the Symptom Check-List-90-R. Parental stress wasevaluated using Parental Stress Index. Results were correlated with clinical features. No significantage or sex differences were found. ‘Daily living skills’ were notably affected. Patients severely affectedexhibited lower adaptive skill values, as did those with lipodystrophy and inverted nipples. Greaterseverity in motor cerebellar syndrome, behavioral disturbances and the presence of comorbiditiessuch as hyperactivity, autistic features and moderate-to-severe intellectual disability correlated withgreater parental stress. Our study found no decline in adaptive abilities. We provide tools to assessadaptive 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 futuretherapies.
YR 2023
FD 2023
LK https://uvadoc.uva.es/handle/10324/64480
UL https://uvadoc.uva.es/handle/10324/64480
LA spa
NO Scientific Reports. 2023 Dec 20;13(1):22783
DS UVaDOC
RD 14-oct-2024