Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review

Detalhes bibliográficos
Autor(a) principal: Tavazzi, Erica
Data de Publicação: 2023
Outros Autores: Longato, Enrico, Vettoretti, Martina, Aidos, Helena, Trescato, Isotta, Roversi, Chiara, Martins, Andreia S., Castanho, Eduardo N., Branco, Ruben, Soares, Diogo F., Guazzo, Alessandro, Birolo, Giovanni, Pala, Daniele, Bosoni, Pietro, Chiò, Adriano, Manera, Umberto, Carvalho, Mamede, André e Silva Miranda, Bruno, Gromicho, Marta, Alves, Inês, Bellazzi, Riccardo, Dagliati, Arianna, Fariselli, Piero, Madeira, Sara C., Di Camillo, Barbara
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/58709
Resumo: © 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by- nc-nd/4.0/).
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spelling Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic reviewAmyotrophic lateral sclerosisArtificial intelligenceDisease progressionPredictionStratificationSystematic review© 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by- nc-nd/4.0/).Background: Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder characterised by the progressive loss of motor neurons in the brain and spinal cord. The fact that ALS's disease course is highly heterogeneous, and its determinants not fully known, combined with ALS's relatively low prevalence, renders the successful application of artificial intelligence (AI) techniques particularly arduous. Objective: This systematic review aims at identifying areas of agreement and unanswered questions regarding two notable applications of AI in ALS, namely the automatic, data-driven stratification of patients according to their phenotype, and the prediction of ALS progression. Differently from previous works, this review is focused on the methodological landscape of AI in ALS. Methods: We conducted a systematic search of the Scopus and PubMed databases, looking for studies on data-driven stratification methods based on unsupervised techniques resulting in (A) automatic group discovery or (B) a transformation of the feature space allowing patient subgroups to be identified; and for studies on internally or externally validated methods for the prediction of ALS progression. We described the selected studies according to the following characteristics, when applicable: variables used, methodology, splitting criteria and number of groups, prediction outcomes, validation schemes, and metrics. Results: Of the starting 1604 unique reports (2837 combined hits between Scopus and PubMed), 239 were selected for thorough screening, leading to the inclusion of 15 studies on patient stratification, 28 on prediction of ALS progression, and 6 on both stratification and prediction. In terms of variables used, most stratification and prediction studies included demographics and features derived from the ALSFRS or ALSFRS-R scores, which were also the main prediction targets. The most represented stratification methods were K-means, and hierarchical and expectation-maximisation clustering; while random forests, logistic regression, the Cox proportional hazard model, and various flavours of deep learning were the most widely used prediction methods. Predictive model validation was, albeit unexpectedly, quite rarely performed in absolute terms (leading to the exclusion of 78 eligible studies), with the overwhelming majority of included studies resorting to internal validation only. Conclusion: This systematic review highlighted a general agreement in terms of input variable selection for both stratification and prediction of ALS progression, and in terms of prediction targets. A striking lack of validated models emerged, as well as a general difficulty in reproducing many published studies, mainly due to the absence of the corresponding parameter lists. While deep learning seems promising for prediction applications, its superiority with respect to traditional methods has not been established; there is, instead, ample room for its application in the subfield of patient stratification. Finally, an open question remains on the role of new environmental and behavioural variables collected via novel, real-time sensors.ElsevierRepositório da Universidade de LisboaTavazzi, EricaLongato, EnricoVettoretti, MartinaAidos, HelenaTrescato, IsottaRoversi, ChiaraMartins, Andreia S.Castanho, Eduardo N.Branco, RubenSoares, Diogo F.Guazzo, AlessandroBirolo, GiovanniPala, DanieleBosoni, PietroChiò, AdrianoManera, UmbertoCarvalho, MamedeAndré e Silva Miranda, BrunoGromicho, MartaAlves, InêsBellazzi, RiccardoDagliati, AriannaFariselli, PieroMadeira, Sara C.Di Camillo, Barbara2023-07-21T11:39:18Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/58709engArtif Intell Med. 2023 Aug;142:1025880933-365710.1016/j.artmed.2023.1025881873-2860info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:07:32Zoai:repositorio.ul.pt:10451/58709Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:08:49.724415Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
title Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
spellingShingle Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
Tavazzi, Erica
Amyotrophic lateral sclerosis
Artificial intelligence
Disease progression
Prediction
Stratification
Systematic review
title_short Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
title_full Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
title_fullStr Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
title_full_unstemmed Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
title_sort Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: a systematic review
author Tavazzi, Erica
author_facet Tavazzi, Erica
Longato, Enrico
Vettoretti, Martina
Aidos, Helena
Trescato, Isotta
Roversi, Chiara
Martins, Andreia S.
Castanho, Eduardo N.
Branco, Ruben
Soares, Diogo F.
Guazzo, Alessandro
Birolo, Giovanni
Pala, Daniele
Bosoni, Pietro
Chiò, Adriano
Manera, Umberto
Carvalho, Mamede
André e Silva Miranda, Bruno
Gromicho, Marta
Alves, Inês
Bellazzi, Riccardo
Dagliati, Arianna
Fariselli, Piero
Madeira, Sara C.
Di Camillo, Barbara
author_role author
author2 Longato, Enrico
Vettoretti, Martina
Aidos, Helena
Trescato, Isotta
Roversi, Chiara
Martins, Andreia S.
Castanho, Eduardo N.
Branco, Ruben
Soares, Diogo F.
Guazzo, Alessandro
Birolo, Giovanni
Pala, Daniele
Bosoni, Pietro
Chiò, Adriano
Manera, Umberto
Carvalho, Mamede
André e Silva Miranda, Bruno
Gromicho, Marta
Alves, Inês
Bellazzi, Riccardo
Dagliati, Arianna
Fariselli, Piero
Madeira, Sara C.
Di Camillo, Barbara
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Tavazzi, Erica
Longato, Enrico
Vettoretti, Martina
Aidos, Helena
Trescato, Isotta
Roversi, Chiara
Martins, Andreia S.
Castanho, Eduardo N.
Branco, Ruben
Soares, Diogo F.
Guazzo, Alessandro
Birolo, Giovanni
Pala, Daniele
Bosoni, Pietro
Chiò, Adriano
Manera, Umberto
Carvalho, Mamede
André e Silva Miranda, Bruno
Gromicho, Marta
Alves, Inês
Bellazzi, Riccardo
Dagliati, Arianna
Fariselli, Piero
Madeira, Sara C.
Di Camillo, Barbara
dc.subject.por.fl_str_mv Amyotrophic lateral sclerosis
Artificial intelligence
Disease progression
Prediction
Stratification
Systematic review
topic Amyotrophic lateral sclerosis
Artificial intelligence
Disease progression
Prediction
Stratification
Systematic review
description © 2023 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by- nc-nd/4.0/).
publishDate 2023
dc.date.none.fl_str_mv 2023-07-21T11:39:18Z
2023
2023-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/58709
url http://hdl.handle.net/10451/58709
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Artif Intell Med. 2023 Aug;142:102588
0933-3657
10.1016/j.artmed.2023.102588
1873-2860
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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