Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects

Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of s...

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Detalles Bibliográficos
Autores: Gil-González, Marta, Arias, Carolina, Saudubray, Jean-Marie, Colomé-Roura, Roser, García-Cazorla, Ángeles
Tipo de recurso: artículo
Fecha de publicación:2025
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:320271
Acceso en línea:https://ddd.uab.cat/record/320271
https://dx.doi.org/urn:doi:10.1002/jimd.70084
Access Level:acceso abierto
Palabra clave:Behavior
Cognition
Inherited metabolic disorders
Neurodevelopment
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spelling Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy DefectsA Systematic ReviewGil-González, MartaArias, CarolinaSaudubray, Jean-MarieColomé-Roura, RoserGarcía-Cazorla, ÁngelesBehaviorCognitionInherited metabolic disordersNeurodevelopmentInherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy-related IMD. A search was conducted in the PubMed database until August 2024, using the term "cognition" and up to 421 energy-related IMD and 196 intoxication IMD. Reviews, animal models, studies with non-standardized measures, and studies that focused on complex molecule disorders, small molecule deficiencies, and phenylketonuria were excluded. In total, 163 studies were included in the final analysis. The cognitive domains assessed were executive functions, attention, processing speed, language, speech, visual performance, fine motor dexterity, memory, behavioral and emotional regulation, and social cognition. Most available evidence focused on intoxication IMD (83%), which exhibited better global cognitive functioning than energy defects. The cognitive domains most frequently reported as impaired were fine motor dexterity (80.9%), behavioral and emotional regulation (80%), executive functions (73.3%), attention (72.4%), and social cognition (65.6%). After applying the chi-square test with a 95% confidence level, no statistically significant differences were found between intoxication and energy-related IMD. However, language impairments were slightly more pronounced in intoxication disorders, while visuospatial deficits were more common in energy disorders. Individuals with IMD are at a higher risk of neurodevelopmental disorders, which can persist despite early detection and treatment. Although the number of cognitive studies has increased in recent years, further research with standardized measures is necessary to understand the underlying pathophysiology of neurocognitive impairments. 22025-01-0120252025-01-01Article de revisióhttp://purl.org/coar/resource_type/c_dcae04bcVoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/320271https://dx.doi.org/urn:doi:10.1002/jimd.70084reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 FI21/00073Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI24/00469open accesshttp://purl.org/coar/access_right/c_abf2Aquest 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, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3202712026-06-06T12:50:31Z
dc.title.none.fl_str_mv Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
A Systematic Review
title Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
spellingShingle Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
Gil-González, Marta
Behavior
Cognition
Inherited metabolic disorders
Neurodevelopment
title_short Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
title_full Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
title_fullStr Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
title_full_unstemmed Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
title_sort Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects
dc.creator.none.fl_str_mv Gil-González, Marta
Arias, Carolina
Saudubray, Jean-Marie
Colomé-Roura, Roser
García-Cazorla, Ángeles
author Gil-González, Marta
author_facet Gil-González, Marta
Arias, Carolina
Saudubray, Jean-Marie
Colomé-Roura, Roser
García-Cazorla, Ángeles
author_role author
author2 Arias, Carolina
Saudubray, Jean-Marie
Colomé-Roura, Roser
García-Cazorla, Ángeles
author2_role author
author
author
author
dc.subject.none.fl_str_mv Behavior
Cognition
Inherited metabolic disorders
Neurodevelopment
topic Behavior
Cognition
Inherited metabolic disorders
Neurodevelopment
description Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy-related IMD. A search was conducted in the PubMed database until August 2024, using the term "cognition" and up to 421 energy-related IMD and 196 intoxication IMD. Reviews, animal models, studies with non-standardized measures, and studies that focused on complex molecule disorders, small molecule deficiencies, and phenylketonuria were excluded. In total, 163 studies were included in the final analysis. The cognitive domains assessed were executive functions, attention, processing speed, language, speech, visual performance, fine motor dexterity, memory, behavioral and emotional regulation, and social cognition. Most available evidence focused on intoxication IMD (83%), which exhibited better global cognitive functioning than energy defects. The cognitive domains most frequently reported as impaired were fine motor dexterity (80.9%), behavioral and emotional regulation (80%), executive functions (73.3%), attention (72.4%), and social cognition (65.6%). After applying the chi-square test with a 95% confidence level, no statistically significant differences were found between intoxication and energy-related IMD. However, language impairments were slightly more pronounced in intoxication disorders, while visuospatial deficits were more common in energy disorders. Individuals with IMD are at a higher risk of neurodevelopmental disorders, which can persist despite early detection and treatment. Although the number of cognitive studies has increased in recent years, further research with standardized measures is necessary to understand the underlying pathophysiology of neurocognitive impairments.
publishDate 2025
dc.date.none.fl_str_mv 2
2025-01-01
2025
2025-01-01
dc.type.none.fl_str_mv Article de revisió
http://purl.org/coar/resource_type/c_dcae04bc
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/320271
https://dx.doi.org/urn:doi:10.1002/jimd.70084
url https://ddd.uab.cat/record/320271
https://dx.doi.org/urn:doi:10.1002/jimd.70084
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 FI21/00073
Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI24/00469
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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