App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review

BackgroundDiagnostic delays in autism are common, with the time to diagnosis being up to 3 years from the onset of symptoms. Such delays have a proven detrimental effect on individuals and families going through the process. Digital health products, such as mobile apps, can h...

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Main Authors: Sonia Ponzo, Merle May, Miren Tamayo-Elizalde, Kerri Bailey, Alanna J Shand, Ryan Bamford, Jan Multmeier, Ivan Griessel, Benedek Szulyovszky, William Blakey, Sophie Valentine, David Plans
Format: Article
Language:English
Published: JMIR Publications 2023-11-01
Series:JMIR mHealth and uHealth
Online Access:https://mhealth.jmir.org/2023/1/e52377
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author Sonia Ponzo
Merle May
Miren Tamayo-Elizalde
Kerri Bailey
Alanna J Shand
Ryan Bamford
Jan Multmeier
Ivan Griessel
Benedek Szulyovszky
William Blakey
Sophie Valentine
David Plans
author_facet Sonia Ponzo
Merle May
Miren Tamayo-Elizalde
Kerri Bailey
Alanna J Shand
Ryan Bamford
Jan Multmeier
Ivan Griessel
Benedek Szulyovszky
William Blakey
Sophie Valentine
David Plans
author_sort Sonia Ponzo
collection DOAJ
description BackgroundDiagnostic delays in autism are common, with the time to diagnosis being up to 3 years from the onset of symptoms. Such delays have a proven detrimental effect on individuals and families going through the process. Digital health products, such as mobile apps, can help close this gap due to their scalability and ease of access. Further, mobile apps offer the opportunity to make the diagnostic process faster and more accurate by providing additional and timely information to clinicians undergoing autism assessments. ObjectiveThe aim of this scoping review was to synthesize the available evidence about digital biomarker tools to aid clinicians, researchers in the autism field, and end users in making decisions as to their adoption within clinical and research settings. MethodsWe conducted a structured literature search on databases and search engines to identify peer-reviewed studies and regulatory submissions that describe app characteristics, validation study details, and accuracy and validity metrics of commercial and research digital biomarker apps aimed at aiding the diagnosis of autism. ResultsWe identified 4 studies evaluating 4 products: 1 commercial and 3 research apps. The accuracy of the identified apps varied between 28% and 80.6%. Sensitivity and specificity also varied, ranging from 51.6% to 81.6% and 18.5% to 80.5%, respectively. Positive predictive value ranged from 20.3% to 76.6%, and negative predictive value fluctuated between 48.7% and 97.4%. Further, we found a lack of details around participants’ demographics and, where these were reported, important imbalances in sex and ethnicity in the studies evaluating such products. Finally, evaluation methods as well as accuracy and validity metrics of available tools were not clearly reported in some cases and varied greatly across studies. Different comparators were also used, with some studies validating their tools against the Diagnostic and Statistical Manual of Mental Disorders criteria and others through self-reported measures. Further, while in most cases, 2 classes were used for algorithm validation purposes, 1 of the studies reported a third category (indeterminate). These discrepancies substantially impact the comparability and generalizability of the results, thus highlighting the need for standardized validation processes and the reporting of findings. ConclusionsDespite their popularity, systematic evaluations and syntheses of the current state of the art of digital health products are lacking. Standardized and transparent evaluations of digital health tools in diverse populations are needed to assess their real-world usability and validity, as well as help researchers, clinicians, and end users safely adopt novel tools within clinical and research practices.
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spelling doaj.art-242d4cf0359949619636f8fac8bb5a492023-11-17T15:00:42ZengJMIR PublicationsJMIR mHealth and uHealth2291-52222023-11-0111e5237710.2196/52377App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping ReviewSonia Ponzohttps://orcid.org/0000-0002-6754-5078Merle Mayhttps://orcid.org/0000-0002-6169-3934Miren Tamayo-Elizaldehttps://orcid.org/0000-0002-2769-0019Kerri Baileyhttps://orcid.org/0000-0002-8186-9730Alanna J Shandhttps://orcid.org/0009-0000-2540-6320Ryan Bamfordhttps://orcid.org/0000-0002-1229-3782Jan Multmeierhttps://orcid.org/0000-0002-2825-6716Ivan Griesselhttps://orcid.org/0009-0009-7885-3031Benedek Szulyovszkyhttps://orcid.org/0009-0004-0159-0206William Blakeyhttps://orcid.org/0009-0002-7550-3182Sophie Valentinehttps://orcid.org/0000-0002-4016-5075David Planshttps://orcid.org/0000-0002-0476-3342 BackgroundDiagnostic delays in autism are common, with the time to diagnosis being up to 3 years from the onset of symptoms. Such delays have a proven detrimental effect on individuals and families going through the process. Digital health products, such as mobile apps, can help close this gap due to their scalability and ease of access. Further, mobile apps offer the opportunity to make the diagnostic process faster and more accurate by providing additional and timely information to clinicians undergoing autism assessments. ObjectiveThe aim of this scoping review was to synthesize the available evidence about digital biomarker tools to aid clinicians, researchers in the autism field, and end users in making decisions as to their adoption within clinical and research settings. MethodsWe conducted a structured literature search on databases and search engines to identify peer-reviewed studies and regulatory submissions that describe app characteristics, validation study details, and accuracy and validity metrics of commercial and research digital biomarker apps aimed at aiding the diagnosis of autism. ResultsWe identified 4 studies evaluating 4 products: 1 commercial and 3 research apps. The accuracy of the identified apps varied between 28% and 80.6%. Sensitivity and specificity also varied, ranging from 51.6% to 81.6% and 18.5% to 80.5%, respectively. Positive predictive value ranged from 20.3% to 76.6%, and negative predictive value fluctuated between 48.7% and 97.4%. Further, we found a lack of details around participants’ demographics and, where these were reported, important imbalances in sex and ethnicity in the studies evaluating such products. Finally, evaluation methods as well as accuracy and validity metrics of available tools were not clearly reported in some cases and varied greatly across studies. Different comparators were also used, with some studies validating their tools against the Diagnostic and Statistical Manual of Mental Disorders criteria and others through self-reported measures. Further, while in most cases, 2 classes were used for algorithm validation purposes, 1 of the studies reported a third category (indeterminate). These discrepancies substantially impact the comparability and generalizability of the results, thus highlighting the need for standardized validation processes and the reporting of findings. ConclusionsDespite their popularity, systematic evaluations and syntheses of the current state of the art of digital health products are lacking. Standardized and transparent evaluations of digital health tools in diverse populations are needed to assess their real-world usability and validity, as well as help researchers, clinicians, and end users safely adopt novel tools within clinical and research practices.https://mhealth.jmir.org/2023/1/e52377
spellingShingle Sonia Ponzo
Merle May
Miren Tamayo-Elizalde
Kerri Bailey
Alanna J Shand
Ryan Bamford
Jan Multmeier
Ivan Griessel
Benedek Szulyovszky
William Blakey
Sophie Valentine
David Plans
App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review
JMIR mHealth and uHealth
title App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review
title_full App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review
title_fullStr App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review
title_full_unstemmed App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review
title_short App Characteristics and Accuracy Metrics of Available Digital Biomarkers for Autism: Scoping Review
title_sort app characteristics and accuracy metrics of available digital biomarkers for autism scoping review
url https://mhealth.jmir.org/2023/1/e52377
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