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Differential diagnosis of adult neurodevelopmental disorders: systematic review and development of a rule-based expert system

datacite.subject.fosEngenharia e Tecnologia::Engenharia Eletrotécnica, Eletrónica e Informática
datacite.subject.sdg09:Indústria, Inovação e Infraestruturas
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorMagalhães, Micila Sumaria Medeiros Pereira
dc.contributor.authorRodrigues, Rodrigo Bernardo Domingos
dc.contributor.authorCardoso, Mário António Afonso
dc.contributor.authorGirão, Fábio José Dias
dc.contributor.authorFernandes, Gonçalo
dc.date.accessioned2026-04-23T15:17:20Z
dc.date.available2026-04-23T15:17:20Z
dc.date.issued2025-12-09
dc.description.abstractNeurodevelopmental Disorders (NDDs) in adults — most notably Autism Spectrum Disorder (ASD) and Attention-Deficit/ Hyperactivity Disorder (ADHD) — remain challenging to diagnose due to overlapping symptoms and comorbidities. This study examines artificial intelligence (AI) approaches applied to adult DDx, which converge on two main directions: rule-based systems for workflow management (CDSS) and machine-learning (ML) models aimed at efficient triage and classification. Based on this analysis, we propose a transparent, rule-based expert system for adults, complemented by optional ML components to support prioritization within a dual-professional workflow (Neurology + Psychology). The system seeks to improve diagnostic consistency and explainability while maintaining clinical oversight and ensuring full decision traceability. The contribution is an explainable and pragmatic model that combines expert rules with lightweight ML to provide reliable and auditable decision support for adult NDD DDx.eng
dc.identifier.citationMagalhães, M., Rodrigues, R., Cardoso, M., Girão, F. & Fernandes, G. (2025, dezembro 9). Differential diagnosis of adult neurodevelopmental disorders: systematic review and development of a rule-based expert system. In Sá, C., Oliveira, C., Silva, E., Cardoso, M., Morgado, N., Proença, P., Carvalho, P., Vieira, R., Meireles, R., & Moreira, S. (Eds.). Simpósio de Engenharia Informática 2025. Instituto Superior de Engenharia do Porto ISEP – P.Porto
dc.identifier.isbn978-989-36167-7-2
dc.identifier.urihttp://hdl.handle.net/10400.22/32280
dc.language.isoeng
dc.peerreviewedyes
dc.publisherInstituto Superior de Engenharia do Porto (ISEP) – P.Porto
dc.relation.hasversionhttps://sei.dei.isep.ipp.pt/
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectNeurodevelopmental Disorders (NDD)
dc.subjectDifferential Diagnosis (DDx)
dc.subjectRule-Based Systems
dc.subjectBusiness Process Management (BPM)
dc.subjectClinical Decision Support Systems (CDSS)
dc.subjectExplainability (XAI)
dc.subjectMachine Learning (ML)
dc.subjectAdults
dc.titleDifferential diagnosis of adult neurodevelopmental disorders: systematic review and development of a rule-based expert systemeng
dc.typeconference paper
dspace.entity.typePublication
oaire.citation.conferenceDate2025-12-09
oaire.citation.conferencePlacePorto, Portugal
oaire.citation.titleSEI'25 - Simpósio de Engenharia Informática 2025
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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