Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress : a cross-sectional study
Epifani, Florencia (Hospital Sant Joan de Déu (Manresa))
Pujol Serra, Susana María (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Llorens, Marta (Hospital Sant Joan de Déu (Manresa))
Balcells, Sol (Institut de Recerca Sant Joan de Déu)
Nolasco, Gregorio (Hospital Sant Joan de Déu (Manresa))
Bolasell, Mercè (Hospital Sant Joan de Déu (Manresa))
Aguilera-Albesa, Sergio (Hospital Universitario de Navarra)
Cancho Candela, Ramon (Hospital Universitario Rio Hortega)
Cuevas Cervera, José Luis (Hospital Universitario de Jaén)
García Sánchez, Verónica (Hospital Universitario Puerto Real (Cadis))
Garcia, Oscar (Hospital Universitario Virgen de la Salud (Toledo))
Miranda-Herrero, María Concepción (Hospital General Universitario Gregorio Marañón)
Moreno-Lozano, Pedro J. (Hospital Clínic i Provincial de Barcelona)
Robles, Bernabé (Hospital de Sant Boi)
Roldán Aparicio, Susana (Hospital Virgen de las Nieves (Granada, Andalusia))
Velázquez Fragua, Ramón (Hospital Universitario La Paz (Madrid))
Serrano, Mercedes (Instituto de Salud Carlos III)
Universitat Autònoma de Barcelona

Date:	2023
Abstract:	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.
Grants:	Ministerio de Economía y Competitividad PI14/00021 Instituto de Salud Carlos III PI21/00068
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Neurodevelopmental disorders
Published in:	Scientific reports, Vol. 13 (december 2023) , ISSN 2045-2322

DOI: 10.1038/s41598-023-49518-y
PMID: 38129426

12 p, 2.2 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Parc Taulí Research and Innovation Institute (I3PT
Articles > Research articles
Articles > Published articles