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

Magalhães, Micila Sumaria Medeiros Pereira; Rodrigues, Rodrigo Bernardo Domingos; Cardoso, Mário António Afonso; Girão, Fábio José Dias; Fernandes, Gonçalo

http://hdl.handle.net/10400.22/32280

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Autores

Magalhães, Micila Sumaria Medeiros Pereira

Rodrigues, Rodrigo Bernardo Domingos

Cardoso, Mário António Afonso

Girão, Fábio José Dias

Fernandes, Gonçalo

Resumo(s)

Neurodevelopmental 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.

Palavras-chave

Neurodevelopmental Disorders (NDD) Differential Diagnosis (DDx) Rule-Based Systems Business Process Management (BPM) Clinical Decision Support Systems (CDSS) Explainability (XAI) Machine Learning (ML) Adults

URI

http://hdl.handle.net/10400.22/32280

Citação

Magalhães, 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

Editora

Instituto Superior de Engenharia do Porto (ISEP) – P.Porto

Coleções

ISEP – DEI – Comunicações em eventos científicos

Licença CC

cclicense-by-nc-nd

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