Early Detection of Autism Spectrum Disorder Through Automated Machine Learning
Abstract
1. Introduction
- Level 1 (Requiring Support): Affected individuals may have significant difficulty initiating social interactions and may have problems with organization and planning, but they are often able to function independently with some support.
- Level 2 (Requiring Substantial Support): There are obvious deficits in verbal and non-verbal communication. Social disablement are more severe, and inflexible behavior occurs frequently, even with support.
- Level 3 (Requiring Very Substantial Support): Affected individuals exhibit significant difficulties with verbal and nonverbal communication and extreme resistance to change. Their restricted and repetitive conduct significantly impairs their ability to function in all domains.
- Social impairment—such as sharing emotions, holding a conversation.
- Communication difficulties—can be verbal (expressed through language) or non-verbal (such as facial expressions, eye contact, and gestures).
- Repetitive and stereotyped behavior—repeating words or actions.
- To gather empirical data for our study, we conducted a survey utilizing the autism spectrum quotient in toddlers-10 (Q-CHAT-10) questionnaire across various rehabilitation centers in Pakistan. The questionnaire comprises ten items that capture behavioral characteristics associated with ASD and seven other variables, including demographic information (e.g., age, gender). After administering the survey, the resulting dataset was obtained.
- After collecting the dataset, we implemented an automated machine learning (AUTOML) pipeline using the TPOT (Tree-based Pipeline Optimization Tool) library for ASD detection. The TPOT automated the process of model selection and hyperparameter optimization.
- In order to ensure the validity of the TPOT on our dataset, we conducted a thorough verification process. This involved manually recreating the machine learning model using the exact parameters generated by the TPOT. By replicating the model creation manually, we aimed to verify the consistency and reliability of TPOT’s automated pipeline. To examine and compute the effectiveness of both the AUTOML generated and manually recreated model, we employed a rigorous comparative evaluation.
- Unlike manual model tuning, the TPOT automates the selection and optimization of ML pipelines through genetic programming, enabling the discovery of high-performing models with minimal human intervention. This makes it especially useful in healthcare scenarios where domain experts may not have ML expertise.
2. Literature Review
3. Proposed Framework
3.1. Data Collection
3.2. Data Preprocessing
3.3. Data Partitioning
3.4. Model Development (AUTOML)
3.5. Tree-Based Pipeline Optimization Tool (TPOT)
3.5.1. Data Preparation
3.5.2. Feature Engineering
3.5.3. Pipeline Generation
3.5.4. Model Selection and Hyperparameter Tuning
3.5.5. Model Evaluation
3.5.6. Final Model Selection
3.6. Performance Evaluation Metrics
- Confusion Matrix
- Precision
- Recall
- F1-Score
- AUC-ROC Analysis
- Precision–Recall Curve
4. Results and Evaluations
4.1. Data Analysis
4.2. Experimental Results
4.3. Verification of the Experiment
5. Comparative Analysis
6. Discussion
7. Conclusions and Future Detection
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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| Ref. Year | Key Findings | Limitations | 
|---|---|---|
| [1] 2021 | An automated model that supports medical professionals identify ASD was presented in this study. | The limitations are the unavailability of open-source datasets coupled to ASD. | 
| [7] 2019 | Three datasets for youngsters, teenagers, and grown-ups with ASD were employed to classify ASD using the SVM, KNN, and RF algorithms. | Unavailability of a complete dataset related to ASD. | 
| [35] 2019 | In this research, the ASDTests app was proposed for data collection and assisting health professionals in ASD detection. | It was not possible to conduct feature analysis using the app. | 
| [36] 2019 | An ML approach was used on a dataset collected by authors Q-CHAT with 25 items was evaluated. | The sample size was relatively small and not open-source. | 
| [37] 2021 | The study assessed multiple machine learning methods on four datasets to classify autism spectrum disorder. SVM and KNN emerged as the most effective techniques for accurate classification | The study did not investigate the influence of demographic factors (age, gender, race/ethnicity) on machine learning accuracy | 
| [42] 2020 | In this paper, the automated detection system using a convolutional neural network (CNN) achieved high accuracy in detecting ASD in children based on their functional magnetic resonance imaging (fMRI) data. | This study was conducted on a relatively small sample size of 40 participants (20 with ASD and 20 typically developing controls). Further, the study only used dormant-state fMRI data. | 
| [43] 2022 | In this study, various works on algorithmic approaches to classify ASD were presented, e.g., one study showed that the multichannel deep attention neural network (DANN) performed better than support vector machines (SVMs). | This study did not explore the detailed ethical implications of using algorithmic approaches in the diagnosis and treatment of ASD. | 
| [44] 2022 | This study showed automated methods. This study outperformed non-automated ones in accuracy, sensitivity, and specificity. Combining machine learning techniques enhanced ASD diagnosis accuracy. | This study only focused on facial images as a diagnostic tool and did not consider other potential sources of information | 
| [45] 2020 | The research revealed that employing automated machine learning techniques enables precise forecasting of brain age based on cortical anatomical measurements | The study was conducted on a proportionate small sample size | 
| [41] 2016 | The study found that the Tree-based Pipeline Optimization Tool (TPOT) autonomously outperforms basic machine learning without human input on benchmarks. | The study used supervised classification benchmarks; further research is needed to assess TPOT’s performance on different ML problems | 
| [46] 2024 | The study compares the AUTOML tools TPOT and KNIME for ASD detection. | The study did not compare other available AUTOML tools. | 
| Dataset Variables | Description of Q-CHAT-10 DATASET FEATURES | 
|---|---|
| α1 | Does your child show attention by turning toward you when you call their name? | 
| α2 | How easily can you make direct eye contact with your child? | 
| α3 | Does your child use gestures to ask for things he wants, such as a toy that is out of his reach? | 
| α4 | Does your child point to objects or events to draw others’ attention or express excitement? | 
| α5 | Does your child engage in imaginative activities, such as pretending to feed a doll or talk to a toy telephone? | 
| α6 | Does your child follow another person’s gaze or look in the same direction when someone else is looking at something? | 
| α7 | When a family member seems upset or distressed, does your child attempt to comfort them, for example by offering physical contact or affection? | 
| α8 | How would you characterize your child’s early verbal communication? | 
| α9 | Does your child use simple nonverbal gestures, such as waving to say goodbye? | 
| α10 | Does your child often stare at objects or into space for extended periods without a clear purpose? | 
| Dataset Variables | Data Type | Attribute Description | 
|---|---|---|
| Age_Months | Number | Child’s age in months | 
| Sex | String | Male/female | 
| Jaundice | Boolean (Yes/No) | Whether the child was born with jaundice | 
| Family_mem_with_ASD | Boolean (Yes/No) | Any family member diagnosed with ASD | 
| Who completed the test | String | Parent, caregiver, medical staff, clinician | 
| Qchat-10-Score | Integer | Final results based on the scoring function | 
| Class/ASD Traits | Boolean | The class label represents whether ASD-related traits are observed, with a value of ‘0’ indicating no traits present and ‘1’ indicating that such traits are present | 
| TPOT Best Pipeline Parameters | Values | 
|---|---|
| Alpha | 1.0 | 
| fit_prior | False | 
| Bootstrap | True | 
| Criterion | gini | 
| max_features | 0.05 | 
| min_samples_leaf | 1 | 
| min_samples_split | 4 | 
| n_estimators | 100 | 
| Experiment | Precision | Recall | F1-Score | Support | 
|---|---|---|---|---|
| Non-autistic | 0.68 | 0.53 | 0.60 | 43 | 
| Autistic | 0.83 | 0.90 | 0.86 | 106 | 
| Macro avg | 0.75 | 0.72 | 0.73 | 149 | 
| Weighted avg | 0.78 | 0.79 | 0.78 | 149 | 
| Accuracy | - | - | - | 0.83 | 
| Verification | Precision | Recall | F1-Score | Support | 
|---|---|---|---|---|
| Non-autistic | 0.68 | 0.53 | 0.60 | 43 | 
| Autistic | 0.83 | 0.90 | 0.86 | 106 | 
| Macro avg | 0.75 | 0.72 | 0.73 | 149 | 
| Weighted avg | 0.78 | 0.79 | 0.78 | 149 | 
| Accuracy | - | - | - | 0.83 | 
| Model | Accuracy | Precision | Recall | F1-Score | 
|---|---|---|---|---|
| Support Vector Machine | 0.71 | 0.718 | 1.000 | 0.836 | 
| K-Nearest Neighbour | 0.74 | 0.785 | 0.888 | 0.833 | 
| Naive Bayes | 0.80 | 0.847 | 0.887 | 0.866 | 
| Logistic Regression | 0.757 | 0.805 | 0.875 | 0.838 | 
| Decision Tree | 0.70 | 0.804 | 0.769 | 0.786 | 
| Random Forest | 0.780 | 0.821 | 0.888 | 0.854 | 
| AUTOML | 0.83 | 0.868 | 0.868 | 0.868 | 
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Ehsan, K.; Sultan, K.; Fatima, A.; Sheraz, M.; Chuah, T.C. Early Detection of Autism Spectrum Disorder Through Automated Machine Learning. Diagnostics 2025, 15, 1859. https://doi.org/10.3390/diagnostics15151859
Ehsan K, Sultan K, Fatima A, Sheraz M, Chuah TC. Early Detection of Autism Spectrum Disorder Through Automated Machine Learning. Diagnostics. 2025; 15(15):1859. https://doi.org/10.3390/diagnostics15151859
Chicago/Turabian StyleEhsan, Khafsa, Kashif Sultan, Abreen Fatima, Muhammad Sheraz, and Teong Chee Chuah. 2025. "Early Detection of Autism Spectrum Disorder Through Automated Machine Learning" Diagnostics 15, no. 15: 1859. https://doi.org/10.3390/diagnostics15151859
APA StyleEhsan, K., Sultan, K., Fatima, A., Sheraz, M., & Chuah, T. C. (2025). Early Detection of Autism Spectrum Disorder Through Automated Machine Learning. Diagnostics, 15(15), 1859. https://doi.org/10.3390/diagnostics15151859
 
        




 
       