Dataset Information

Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is currently diagnosed using qualitative methods that measure between 20-100 behaviors, can span multiple appointments with trained clinicians, and take several hours to complete. In our previous work, we demonstrated the efficacy of machine learning classifiers to accelerate the process by collecting home videos of US-based children, identifying a reduced subset of behavioral features that are scored by untrained raters using a machine learning classifier to determine children's "risk scores" for autism. We achieved an accuracy of 92% (95% CI 88%-97%) on US videos using a classifier built on five features.

Objective

Using videos of Bangladeshi children collected from Dhaka Shishu Children's Hospital, we aim to scale our pipeline to another culture and other developmental delays, including speech and language conditions.

Methods

Although our previously published and validated pipeline and set of classifiers perform reasonably well on Bangladeshi videos (75% accuracy, 95% CI 71%-78%), this work improves on that accuracy through the development and application of a powerful new technique for adaptive aggregation of crowdsourced labels. We enhance both the utility and performance of our model by building two classification layers: The first layer distinguishes between typical and atypical behavior, and the second layer distinguishes between ASD and non-ASD. In each of the layers, we use a unique rater weighting scheme to aggregate classification scores from different raters based on their expertise. We also determine Shapley values for the most important features in the classifier to understand how the classifiers' process aligns with clinical intuition.

Results

Using these techniques, we achieved an accuracy (area under the curve [AUC]) of 76% (SD 3%) and sensitivity of 76% (SD 4%) for identifying atypical children from among developmentally delayed children, and an accuracy (AUC) of 85% (SD 5%) and sensitivity of 76% (SD 6%) for identifying children with ASD from those predicted to have other developmental delays.

Conclusions

These results show promise for using a mobile video-based and machine learning-directed approach for early and remote detection of autism in Bangladeshi children. This strategy could provide important resources for developmental health in developing countries with few clinical resources for diagnosis, helping children get access to care at an early age. Future research aimed at extending the application of this approach to identify a range of other conditions and determine the population-level burden of developmental disabilities and impairments will be of high value.

SUBMITTER: Tariq Q

PROVIDER: S-EPMC6505375 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study.

Tariq Qandeel Q Fleming Scott Lanyon SL Schwartz Jessey Nicole JN Dunlap Kaitlyn K Corbin Conor C Washington Peter P Kalantarian Haik H Khan Naila Z NZ Darmstadt Gary L GL Wall Dennis Paul DP

Journal of medical Internet research 20190424 4

<h4>Background</h4>Autism spectrum disorder (ASD) is currently diagnosed using qualitative methods that measure between 20-100 behaviors, can span multiple appointments with trained clinicians, and take several hours to complete. In our previous work, we demonstrated the efficacy of machine learning classifiers to accelerate the process by collecting home videos of US-based children, identifying a reduced subset of behavioral features that are scored by untrained raters using a machine learning ...[more]

PMID: 31017583

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Project description:Increasing evidence suggests that autism spectrum disorder (ASD) and many forms of developmental delay (DD) originate during fetal development. Preeclampsia may trigger aberrant neurodevelopment through placental, maternal, and fetal physiologic mechanisms.To determine whether preeclampsia is associated with ASD and/or DD.The Childhood Autism Risks from Genetics and the Environment (CHARGE) study is a population-based, case-control investigation of ASD and/or DD origins. Children from 20 California counties aged 24 to 60 months at the time of recruitment and living in catchment areas with a biological parent fluent in English or Spanish were enrolled from January 29, 2003, through April 7, 2011. Children with ASD (n?=?517) and DD (n?=?194) were recruited through the California Department of Developmental Services, the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, and referrals. Controls with typical development (TD) (n?=?350) were randomly selected from birth records and frequency matched on age, sex, and broad geographic region. Physicians diagnosing preeclampsia were masked to neurodevelopmental outcome, and those assessing neurodevelopmental function were masked to preeclampsia status.Preeclampsia and placental insufficiency were self-reported and abstracted from medical records.The Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised were used to confirm ASD, whereas children with DD and TD were confirmed by Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales and were free of autistic symptoms. Hypotheses were formulated before data collection.Children with ASD were twice as likely to have been exposed in utero to preeclampsia as controls with TD after adjustment for maternal educational level, parity, and prepregnancy obesity (adjusted odds ratio, 2.36; 95% CI, 1.18-4.68); risk increased with greater preeclampsia severity (test for trend, P?=?.02). Placental insufficiency appeared responsible for the increase in DD risk associated with severe preeclampsia (adjusted odds ratio, 5.49; 95% CI, 2.06-14.64).Preeclampsia, particularly severe disease, is associated with ASD and DD. Faulty placentation manifests in the mother as preeclampsia with vascular damage, enhanced systemic inflammation, and insulin resistance; in the placenta as oxygen and nutrient transfer restriction and oxidative stress; and in the fetus as growth restriction and progressive hypoxemia. All are potential mechanisms for neurodevelopmental compromise.

Project description:BackgroundThe standard approaches to diagnosing autism spectrum disorder (ASD) evaluate between 20 and 100 behaviors and take several hours to complete. This has in part contributed to long wait times for a diagnosis and subsequent delays in access to therapy. We hypothesize that the use of machine learning analysis on home video can speed the diagnosis without compromising accuracy. We have analyzed item-level records from 2 standard diagnostic instruments to construct machine learning classifiers optimized for sparsity, interpretability, and accuracy. In the present study, we prospectively test whether the features from these optimized models can be extracted by blinded nonexpert raters from 3-minute home videos of children with and without ASD to arrive at a rapid and accurate machine learning autism classification.Methods and findingsWe created a mobile web portal for video raters to assess 30 behavioral features (e.g., eye contact, social smile) that are used by 8 independent machine learning models for identifying ASD, each with >94% accuracy in cross-validation testing and subsequent independent validation from previous work. We then collected 116 short home videos of children with autism (mean age = 4 years 10 months, SD = 2 years 3 months) and 46 videos of typically developing children (mean age = 2 years 11 months, SD = 1 year 2 months). Three raters blind to the diagnosis independently measured each of the 30 features from the 8 models, with a median time to completion of 4 minutes. Although several models (consisting of alternating decision trees, support vector machine [SVM], logistic regression (LR), radial kernel, and linear SVM) performed well, a sparse 5-feature LR classifier (LR5) yielded the highest accuracy (area under the curve [AUC]: 92% [95% CI 88%-97%]) across all ages tested. We used a prospectively collected independent validation set of 66 videos (33 ASD and 33 non-ASD) and 3 independent rater measurements to validate the outcome, achieving lower but comparable accuracy (AUC: 89% [95% CI 81%-95%]). Finally, we applied LR to the 162-video-feature matrix to construct an 8-feature model, which achieved 0.93 AUC (95% CI 0.90-0.97) on the held-out test set and 0.86 on the validation set of 66 videos. Validation on children with an existing diagnosis limited the ability to generalize the performance to undiagnosed populations.ConclusionsThese results support the hypothesis that feature tagging of home videos for machine learning classification of autism can yield accurate outcomes in short time frames, using mobile devices. Further work will be needed to confirm that this approach can accelerate autism diagnosis at scale.

Project description:The neurobiological mechanisms underlying Autism Spectrum Disorders (ASD) remains controversial. One factor contributing to this debate is the phenotypic heterogeneity observed in ASD, which suggests that multiple system disruptions may contribute to diverse patterns of impairment which have been reported between and within study samples. Here, we used SFARI data to address genetic imbalances affecting the dopaminergic system. Using complex network analysis, we investigated the relations between phenotypic profiles, gene dosage and gene ontology (GO) terms related to dopaminergic neurotransmission from a polygenic point-of-view. We observed that the degree of distribution of the networks matched a power-law distribution characterized by the presence of hubs, gene or GO nodes with a large number of interactions. Furthermore, we identified interesting patterns related to subnetworks of genes and GO terms, which suggested applicability to separation of clinical clusters (Developmental Delay (DD) versus ASD). This has the potential to improve our understanding of genetic variability issues and has implications for diagnostic categorization. In ASD, we identified the separability of four key dopaminergic mechanisms disrupted with regard to receptor binding, synaptic physiology and neural differentiation, each belonging to particular subgroups of ASD participants, whereas in DD a more unitary biological pattern was found. Finally, network analysis was fed into a machine learning binary classification framework to differentiate between the diagnosis of ASD and DD. Subsets of 1846 participants were used to train a Random Forest algorithm. Our best classifier achieved, on average, a diagnosis-predicting accuracy of 85.18% (sd 1.11%) on the test samples of 790 participants using 117 genes. The achieved accuracy surpassed results using genetic data and closely matched imaging approaches addressing binary diagnostic classification. Importantly, we observed a similar prediction accuracy when the classifier uses only 62 GO features. This result further corroborates the complex network analysis approach, suggesting that different genetic causes might converge to the dysregulation of the same set of biological mechanisms, leading to a similar disease phenotype. This new biology-driven ontological framework yields a less variable and more compact domain-related set of features with potential mechanistic generalization. The proposed network analysis, allowing for the determination of a clearcut biological distinction between ASD and DD (the latter presenting much lower modularity and heterogeneity), is amenable to machine learning approaches and provides an interesting avenue of research for the future.

Project description:BackgroundObserving behavior in the natural environment is valuable to obtain an accurate and comprehensive assessment of a child's behavior, but in practice it is limited to in-clinic observation. Research shows significant time lag between when parents first become concerned and when the child is finally diagnosed with autism. This lag can delay early interventions that have been shown to improve developmental outcomes.ObjectiveTo develop and evaluate the design of an asynchronous system that allows parents to easily collect clinically valid in-home videos of their child's behavior and supports diagnosticians in completing diagnostic assessment of autism.MethodsFirst, interviews were conducted with 11 clinicians and 6 families to solicit feedback from stakeholders about the system concept. Next, the system was iteratively designed, informed by experiences of families using it in a controlled home-like experimental setting and a participatory design process involving domain experts. Finally, in-field evaluation of the system design was conducted with 5 families of children (4 with previous autism diagnosis and 1 child typically developing) and 3 diagnosticians. For each family, 2 diagnosticians, blind to the child's previous diagnostic status, independently completed an autism diagnosis via our system. We compared the outcome of the assessment between the 2 diagnosticians, and between each diagnostician and the child's previous diagnostic status.ResultsThe system that resulted through the iterative design process includes (1) NODA smartCapture, a mobile phone-based application for parents to record prescribed video evidence at home; and (2) NODA Connect, a Web portal for diagnosticians to direct in-home video collection, access developmental history, and conduct an assessment by linking evidence of behaviors tagged in the videos to the Diagnostic and Statistical Manual of Mental Disorders criteria. Applying clinical judgment, the diagnostician concludes a diagnostic outcome. During field evaluation, without prior training, parents easily (average rating of 4 on a 5-point scale) used the system to record video evidence. Across all in-home video evidence recorded during field evaluation, 96% (26/27) were judged as clinically useful, for performing an autism diagnosis. For 4 children (3 with autism and 1 typically developing), both diagnosticians independently arrived at the correct diagnostic status (autism versus typical). Overall, in 91% of assessments (10/11) via NODA Connect, diagnosticians confidently (average rating 4.5 on a 5-point scale) concluded a diagnostic outcome that matched with the child's previous diagnostic status.ConclusionsThe in-field evaluation demonstrated that the system's design enabled parents to easily record clinically valid evidence of their child's behavior, and diagnosticians to complete a diagnostic assessment. These results shed light on the potential for appropriately designed telehealth technology to support clinical assessments using in-home video captured by families. This assessment model can be readily generalized to other conditions where direct observation of behavior plays a central role in the assessment process.

Project description:BackgroundCare for children with autism spectrum disorder (ASD) can be challenging for families and medical care systems. This is especially true in low- and- middle-income countries such as Bangladesh. To improve family-practitioner communication and developmental monitoring of children with ASD, mCARE (Mobile-Based Care for Children with Autism Spectrum Disorder Using Remote Experience Sampling Method) was developed. Within this study, mCARE was used to track child milestone achievement and family sociodemographic assets to inform mCARE feasibility/scalability and family asset-informed practitioner recommendations.ObjectiveThe objectives of this paper are threefold. First, it documents how mCARE can be used to monitor child milestone achievement. Second, it demonstrates how advanced machine learning models can inform our understanding of milestone achievement in children with ASD. Third, it describes family/child sociodemographic factors that are associated with earlier milestone achievement in children with ASD (across 5 machine learning models).MethodsUsing mCARE-collected data, this study assessed milestone achievement in 300 children with ASD from Bangladesh. In this study, we used 4 supervised machine learning algorithms (decision tree, logistic regression, K-nearest neighbor [KNN], and artificial neural network [ANN]) and 1 unsupervised machine learning algorithm (K-means clustering) to build models of milestone achievement based on family/child sociodemographic details. For analyses, the sample was randomly divided in half to train the machine learning models and then their accuracy was estimated based on the other half of the sample. Each model was specified for the following milestones: Brushes teeth, Asks to use the toilet, Urinates in the toilet or potty, and Buttons large buttons.ResultsThis study aimed to find a suitable machine learning algorithm for milestone prediction/achievement for children with ASD using family/child sociodemographic characteristics. For Brushes teeth, the 3 supervised machine learning models met or exceeded an accuracy of 95% with logistic regression, KNN, and ANN as the most robust sociodemographic predictors. For Asks to use toilet, 84.00% accuracy was achieved with the KNN and ANN models. For these models, the family sociodemographic predictors of "family expenditure" and "parents' age" accounted for most of the model variability. The last 2 parameters, Urinates in toilet or potty and Buttons large buttons, had an accuracy of 91.00% and 76.00%, respectively, in ANN. Overall, the ANN had a higher accuracy (above ~80% on average) among the other algorithms for all the parameters. Across the models and milestones, "family expenditure," "family size/type," "living places," and "parent's age and occupation" were the most influential family/child sociodemographic factors.ConclusionsmCARE was successfully deployed in a low- and middle-income country (ie, Bangladesh), providing parents and care practitioners a mechanism to share detailed information on child milestones achievement. Using advanced modeling techniques this study demonstrates how family/child sociodemographic elements can inform child milestone achievement. Specifically, families with fewer sociodemographic resources reported later milestone attainment. Developmental science theories highlight how family/systems can directly influence child development and this study provides a clear link between family resources and child developmental progress. Clinical implications for this work could include supporting the larger family system to improve child milestone achievement.

Dataset Information

Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study.

Background

Objective

Methods

Results

Conclusions

Publications

Detecting Developmental Delay and Autism Through Machine Learning Models Using Home Videos of Bangladeshi Children: Development and Validation Study.

Similar Datasets

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