Cognitive functioning in adults with phenylketonuria in a cohort of Spanish patients

dc.contributor.authorLuna Ovalle, Paula
dc.contributor.authorLópez Paz, Juan Francisco
dc.contributor.authorGarcía Martín, Maitane
dc.contributor.authorAmayra Caro, Imanol
dc.contributor.authorMartínez, Óscar
dc.contributor.authorPérez Álvarez, Manuel
dc.contributor.authorRodríguez Bermejo, Alicia Aurora
dc.contributor.authorPérez Núñez, Paula
dc.contributor.authorCeberio, I.
dc.contributor.authorMansilla, Noelia
dc.contributor.authorSoria, Cristina
dc.date.accessioned2024-11-19T14:37:36Z
dc.date.available2024-11-19T14:37:36Z
dc.date.issued2023
dc.date.updated2024-11-19T14:37:36Z
dc.description.abstractThe early introduction of a low phenylalanine (Phe) diet has been demonstrated to be the most successful treatment in subjects with phenylketonuria (PKU), especially for preventing severe cognitive and neurological damages. However, it still concerns that even if treated in the first months of life with supplements and following a diet, they can show slight scores below people without PKU in neuropsychological assignments. We investigated 20 adults with classical PKU aged 19-48 years (mean age 29 years) and 20 heathy controls matched by age, gender, and years of education. Patients and controls were assessed with an extended neuropsychological battery, as well as psychological aspects and quality of life, also the last Phe level result was obtained. Results showed that the most affected cognitive domains are processing speed, executive functioning, memory, and also theory of mind, but very well-preserved verbal fluency, language, and visuospatial functioning. In quality of life, some significant results were seen specially in anxiety of Phe levels, anxiety of Phe levels during pregnancy, guilt if poor adherence to supplements, and if dietary protein restriction not followed. No significant results were obtained for the psychological variables. In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.en
dc.description.sponsorshipThis study was funded by the grant “Formación de Personal Investigador—FPI” from Deusto International Research School (DIRS) Universidad de Deusto (awarded to Paula Maria Luna Ovalle)en
dc.identifier.citationLuna, López-Paz, García, Amayra, Martínez, Pérez, Rodríguez, Pérez-Núñez, Ceberio, Mansilla, & Soria. (2023). Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients. Behavioural Neurology, 2023. https://doi.org/10.1155/2023/9681740
dc.identifier.doi10.1155/2023/9681740
dc.identifier.eissn1875-8584
dc.identifier.urihttp://hdl.handle.net/20.500.14454/1980
dc.language.isoeng
dc.publisherHindawi Limited
dc.rights© 2023 P. M. Luna et al.
dc.titleCognitive functioning in adults with phenylketonuria in a cohort of Spanish patientsen
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.titleBehavioural Neurology
oaire.citation.volume2023
oaire.licenseConditionhttps://creativecommons.org/licenses/by/4.0/
oaire.versionVoR
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