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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>A Comparative Study of Machine Learning Approaches for Autism Detection in Children from Imaging Data</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Valerio Ponzi</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Samuele Russo</string-name>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Agata Wajda</string-name>
          <xref ref-type="aff" rid="aff3">3</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Christian Napoli</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff2">2</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Department of Computer, Control and Management Engineering, Sapienza University of Rome</institution>
          ,
          <addr-line>Via Ariosto 25, Roma, 00185</addr-line>
          ,
          <country country="IT">Italy</country>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Department of Psychology, Sapienza University of Rome</institution>
          ,
          <addr-line>Via dei Marsi 78, Roma, 00185</addr-line>
          ,
          <country country="IT">Italy</country>
        </aff>
        <aff id="aff2">
          <label>2</label>
          <institution>Institute for Systems Analysis and Computer Science, Italian National Research Council</institution>
          ,
          <addr-line>Via dei Taurini 19, Roma, 00185</addr-line>
          ,
          <country country="IT">Italy</country>
        </aff>
        <aff id="aff3">
          <label>3</label>
          <institution>Institute of Energy and Fuel Processing Technology</institution>
          ,
          <addr-line>Zabrze, 41-803</addr-line>
          ,
          <country country="PL">Poland</country>
        </aff>
      </contrib-group>
      <fpage>9</fpage>
      <lpage>15</lpage>
      <abstract>
        <p>Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that afects language, communication, cognitive, and social skills. Early detection of ASD in children is crucial for efective intervention, and machine learning techniques have emerged as promising tools to improve the accuracy and eficiency of detection. This paper presents a range of Machine Learning approaches that have been applied to identify individuals with ASD, with a particular focus on children, using images as input data. The results of these studies demonstrate the potential for Machine Learning to aid in the early detection and diagnosis of ASD in children, which can lead to better outcomes for individuals with this condition.</p>
      </abstract>
      <kwd-group>
        <kwd>eol&gt;Autism Spectrum Disorder (ASD)</kwd>
        <kwd>Machine Learning</kwd>
        <kwd>Convolutional Neural Network</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>1. Introduction</title>
      <p>
        that may have similar symptoms to ASD. The incidence mon methods for autism detection include cognitive tests,
of ASD traits attributed to genetic factors is estimated questionnaires based on autism symptoms, video
recordaround 81% of the population, moreover environmental ing analysis, social interaction analysis, and brain
scanfactors have been associated in literature with about 14% ning. Cognitive tests can be used to evaluate memory,
to 22% of the risk of ASD[
        <xref ref-type="bibr" rid="ref1">1</xref>
        ], while genetic risk factors for visual perception, reasoning, and problem-solving skills
ASD overlap with other diverse developmental and psy- in children, which may be afected if they are autistic.
chiatric disorders [
        <xref ref-type="bibr" rid="ref2 ref3">2, 3</xref>
        ] However a relatively small num- Questionnaires based on autism symptoms are often used
ber of rare genetic variants (approximately 100 genes) to assess the presence of typical autism behaviors, such
have been identified that were associated with a signif- as repetitive behaviors and dificulty with social
comicant risk [? 3] along with the advancement of the risk munication, in young children. Video recording analysis
factor correlated with paternal age [
        <xref ref-type="bibr" rid="ref4 ref5 ref6 ref7 ref8">4, 5, 6, 7, 8</xref>
        ]. can provide insights into social communication skills and
      </p>
      <p>
        It’s important to note that the diagnostic process for behavior patterns, and can be used to identify potential
ASD can be complex and may require multiple evalua- indicators of autism in young children. Social
interactions over time. Additionally, not all individuals with tion analysis involves observing the interactions between
ASD may be diagnosed in early childhood, and some may young children and their caregivers or peers and can
proreceive a diagnosis later in life. Autism, also known as vide information on the child’s social communication
Autism Spectrum Disorder (ASD), is a neurodevelopmen- abilities and potential indicators of autism. Finally, brain
tal disorder that afects how people interact with others, scanning techniques such as functional magnetic
resocommunicate, learn, and behave. nance imaging (fMRI) and electroencephalography (EEG)
Autism is a complex and lifelong condition that is typ- can provide insights into the neural mechanisms
underlyically diagnosed in early childhood. Individuals with ing autism and may be used to identify early indicators of
autism may have dificulty with verbal and nonverbal the disorder. There are also methods based on machine
communication, such as making eye contact, using facial learning (ML) that can analyze large amounts of data
expressions, and understanding body language. They and identify patterns that may be dificult to detect using
may also struggle to initiate and maintain social relation- traditional methods [
        <xref ref-type="bibr" rid="ref10 ref11 ref9">9, 10, 11</xref>
        ]. They can also provide
ships, have dificulty with imaginative play, and show objective assessments of autism symptoms and improve
repetitive and restrictive behaviors. accuracy. Recent studies have explored the use of ML
Autism is a spectrum disorder, meaning that it afects for early autism detection, including the analysis of
eyeindividuals diferently, and each person with autism has tracking data and brain activity patterns [
        <xref ref-type="bibr" rid="ref12 ref13">12, 13</xref>
        ]. These
a unique set of strengths and challenges. Some individu- studies have shown promising results, suggesting that
als with autism may have exceptional abilities in areas ML methods may be efective tools for improving autism
such as mathematics, music, or art, while others may detection and facilitating early intervention in young
have dificulty with daily living skills such as dressing children. Overall, the use of ML in autism detection
repand grooming. The causes of autism are not fully un- resents an exciting area of research, with the potential to
derstood, but research suggests that a combination of significantly improve our understanding of autism and
genetic and environmental factors may contribute to the lead to more efective interventions for children with the
development of the disorder. There is currently no cure disorder.
for autism, but early intervention and appropriate
educational and therapeutic support can help individuals with
autism reach their full potential and lead fulfilling lives. 2. Related Works
A proper autism treatment may entail a number of
interventions such as behavior therapy, occupational therapy, Machine learning techniques have been used in recent
and talk therapy. Furthermore, it is critical that the child years to help diagnose, predict and improve treatment
obtains an education that is tailored to his needs, with for autism spectrum disorder (ASD). While there is still
teachers who are appropriately prepared to work with much to learn and discover about this complex
neurodeautistic children. Parents play an important role in assist- velopmental disorder, researchers are making progress
ing their autistic children in coping with daily obstacles. in applying machine learning algorithms to ASD.
This could include establishing routines and soothing Some of the current state-of-the-art machine learning
locations, encouraging communication and socializing, approaches for ASD include: Deep learning models,
neuand actively participating in their child’s therapy and ral network models that are capable of learning and
exschool curricula. It’s important to note that autism is not tracting complex patterns from large and heterogeneous
a mental illness or intellectual disability, and individuals datasets. Deep learning models have been used for early
with autism should not be defined solely by their diagno- detection of autism, predicting treatment outcomes, and
sis. Computer-based methods are becoming increasingly understanding the neurobiological basis of the disorder;
important for detecting autism in young children. Com- Support Vector Machines (SVM), a machine learning
algorithm that is commonly used in classification problems. achieved an error rate of less than 5.6%, but the dataset
SVMs have been used to classify autistic and non-autistic used was unbalanced concerning class labels, with 515
individuals based on their brain connectivity patterns, fa- cases belonging to NO-ASD and only 189 cases with ASD.
cial expressions, and speech patterns; Random Forests, an Furthermore, Z Sherkatghanad et al. [24] proposed a
ensemble learning algorithm that combines multiple de- model based on Convolutional Neural Network that can
cision trees to make predictions. This approach has been detect ASD correctly with an accuracy of 70.22% using the
used to identify genetic markers that are associated with ABIDE I dataset and the CC400 functional parcellation
autism and to predict the severity of autism symptoms.; atlas of the brain.
      </p>
      <p>
        Natural Language Processing (NLP), a field of study that
focuses on the interactions between computers and
human languages. NLP has been used to analyze language 3. Implementation
patterns in individuals with autism, including their use
of pronouns, repetition, and lexical diversity; Transfer In this research project, we have employed diferent
maLearning; a technique that involves training a machine chine learning models to classify subjects either as having
learning model on a large dataset and then transferring ASD (autism spectrum disorder) or not. The performance
the learned features to a smaller dataset. Transfer learn- of each classifier was then evaluated to identify the best
ing has been used to develop models for early detection of model.
autism using electroencephalography (EEG) data.
Overall, machine learning approaches hold great promise for 3.1. Dataset
improving the understanding, diagnosis, and treatment The Dataset [25] used in this study included 3,014 facial
of autism spectrum disorder. However, further research is images of children with autism and typically developing
needed to ensure that these techniques are reliable, valid, children, sourced from the publicly accessible Kaggle
platand scalable in real-world settings. Several analyzes of form. Half of the images were of children with autism,
ML methods for disease detection are recently proposed. while the other half were of non-autistic children. The
In 2015 machine learning algorithms were used [
        <xref ref-type="bibr" rid="ref14">14</xref>
        ]to images were collected through various online sources,
inevaluate the Autism Diagnostic Observation Schedule cluding websites and Facebook pages dedicated to autism.
(ADOS) to determine if a subset of behaviors can efec- The creator of the dataset automatically cropped the face
tively diferentiate between children with and without from the original images and already divided the dataset
autism spectrum disorder (ASD). The study found that into train, validation, and test subparts, as shown below
only a few behaviors are suficient to detect ASD risk (Table 1).
with high accuracy. The results suggest that
computational and statistical methods can help streamline ASD
risk detection and screening, potentially enabling the Table 1
development of mobile and parent-directed methods for Splitting of the dataset for training, testing, and validation.
preliminary risk evaluation and clinical triage. Other ML Total images Training set Validation set Testing set
and cloud-based approaches are still under study for re- 3,014 2,654 80 280
mote assesment, follow up and therapeutic support, also
for ASD-afected children [
        <xref ref-type="bibr" rid="ref15 ref16 ref17 ref18 ref19 ref20 ref21">15, 16, 17, 18, 19, 20, 21</xref>
        ]
      </p>
      <p>Regarding the choice of characteristic features that
should be mentioned Vaishali et al. [22] discuss the use 3.2. Machine Learning methods
of machine learning-based behavioral analytics for de- We used a variety of classification algorithms from
Scikittecting the risk of autism. The study experiments with learn, a popular Python Machine Learning library. The
a dataset of 21 features obtained from the UCI machine algorithms used include Decision Tree, Random Forest,
learning repository using a swarm intelligence-based bi- Support Vector Machines (SVM), and k-Nearest
Neighnary firefly feature selection wrapper. The experiment bors (k-NN).
ifnds that 10 features are suficient to distinguish between
ASD and non-ASD patients and achieve an average
accuracy range of 92.12%-97.95% with the optimum feature 3.2.1. Decision Tree
subset, which is comparable to the accuracy produced by Decision Trees are a type of non-parametric supervised
the entire ASD diagnosis dataset. learning method that is used for classification and
regres</p>
      <p>Another study by Thabtah et al. [23] proposed a new sion. The goal is to build a model that predicts the value
machine learning technique called Rules-Machine Learn- of a target variable using simple decision rules derived
ing (RML) that ofers a knowledge base of rules to under- from data features. A tree is an example of a piecewise
stand the underlying reasons behind the classification of constant approximation. A decision tree is a type of
maautism spectrum disorder (ASD) traits. The RML model chine learning algorithm that is used for classification
and regression analysis. It is a graphical representation regression problem, the algorithm predicts a continuous
of all possible solutions to a decision based on certain output variable based on a set of input features. Random
conditions or input variables. In other words, a decision Forests are commonly used in a variety of applications,
tree is a tree-like structure that represents a set of deci- such as image classification, customer churn prediction,
sions and their possible consequences. In a decision tree, and financial forecasting. They are particularly useful
each node represents a decision point based on a certain when dealing with large and complex datasets, where
feature or attribute. The branches that emanate from the traditional statistical methods may not be suficient.
node represent the possible outcomes or choices that can
be made based on the decision point. At each subsequent 3.2.3. Support Vector Machine (SVM)
node, the algorithm evaluates the available options and
makes a decision based on the best available information. SVM is an algorithm for classification tasks that works
For example, suppose we are trying to predict whether by finding the optimal hyperplane that separates the data
a person will purchase a product based on their age and points of diferent classes. In image classification, SVM
income. The decision tree algorithm would first split the can be used to separate the diferent classes of images
data based on age into two groups: those under a certain based on their feature values. A Support Vector Machine
age and those over it. The algorithm would then evaluate (SVM) is a type of machine learning algorithm used for
the income of each group and determine which group is classification and regression analysis. SVMs are based on
more likely to purchase the product based on that crite- the concept of finding a hyperplane that best separates
rion. The algorithm would then split that group further data into diferent classes. In other words, an SVM tries
based on other available features or attributes and con- to find the best possible boundary that separates
difertinue to evaluate and split the data until a final decision ent classes of data, such that the distance between the
is reached. Decision trees can be useful for a variety of boundary and the closest data points (known as support
machine learning tasks, such as prediction, classification, vectors) is maximized. The SVM algorithm works by first
and feature selection. They are often used in decision mapping the input data to a high-dimensional feature
support systems, customer segmentation, and marketing space, where it becomes easier to separate the diferent
analytics. classes. The algorithm then finds the hyperplane that
maximizes the margin between the support vectors of
3.2.2. Random Forest Classifier the diferent classes. The margin is the distance between
the hyperplane and the closest data points, and the
support vectors are the data points that are closest to the
hyperplane. SVMs can be used for both linear and
nonlinear classification and regression problems. In linear
SVMs, the data can be separated using a straight line or a
hyperplane, while in nonlinear SVMs, the data can be
separated using more complex curves or surfaces. SVMs are
popular in machine learning because they have a strong
theoretical foundation and have been shown to perform
well on a variety of datasets. They are particularly useful
when dealing with datasets that have a large number of
features, as SVMs can handle high-dimensional data with
relative ease. SVMs have been used in a wide range of
applications, including text classification, image
classification, and bioinformatics.</p>
      <p>This is a learning method that can be used for
classification as well as regression. It works in the context of
image classification by constructing multiple decision
trees, each of which employs a subset of the features
and samples. The final prediction is then made by
aggregating all of the trees’ predictions. A Random Forest is
a machine learning algorithm that is based on decision
trees. It is an ensemble learning method that combines
multiple decision trees to make a more accurate
prediction. The algorithm works by creating a large number
of decision trees, each of which is trained on a diferent
subset of the data and a random subset of the available
features. The algorithm then combines the predictions of
each tree to arrive at a final prediction. Random Forests
are known for their high accuracy and robustness against
overfitting, a common problem in decision trees. By
using multiple decision trees and aggregating their
predictions, a Random Forest is able to reduce the impact of
individual trees that may be overfitting the data.
Additionally, the random selection of features at each node
helps to increase the diversity of the trees and reduce
correlation between them, further reducing the risk of
overfitting. The Random Forest algorithm can be used
for both classification and regression problems. In a
classification problem, the algorithm predicts the class or
category of a sample based on a set of input features. In a
3.2.4. k-Nearest Neighbors
K-Nearest Neighbor (kNN) is a supervised classification
algorithm used for predicting the class of a new data
point. The basic idea behind kNN is to find the k closest
data points in the training set to the new data point and
assign the most common class among these neighbors to
the new one. k-Nearest Neighbors (k-NN) is a machine
learning algorithm used for classification and regression
analysis. The algorithm works by finding the k data
points in the training set that are closest to a given data
3.2.5. Results
Classifier
Decision Trees
Random Forests
k-Nearest Neighbors
Support Vector Machines</p>
      <sec id="sec-1-1">
        <title>Below are the results obtained from the diferent machine</title>
        <p>learning methods (Table 2).
point in the test set, and then using the labels of these be extremely efective at image recognition tasks and to
nearest neighbors to make a prediction for the test point. be able of learning complex features from images. We
In k-NN classification, the algorithm predicts the class trained and evaluated the CNN on the same dataset that
of a test sample by identifying the k nearest neighbors we used to train and evaluate the other Machine
Learnin the training set and assigning the class that is most ing algorithms, and we compared its performance to the
common among them to the test sample. The value of k is other methods. With the addition of a CNN, we can
inusually chosen by the user and can be a hyperparameter vestigate the advantages and disadvantages of using deep
tuned through cross-validation. In k-NN regression, the learning methods for autism detection.
algorithm predicts the value of a continuous variable
for a test sample by identifying the k nearest neighbors 3.3.1. Architecture
in the training set and taking the average (or weighted
average) of their values. The k-NN algorithm is simple
and easy to understand, and can be applied to a variety
of problems with diferent types of data. However, it
can be computationally expensive, especially when the
training set is large. Additionally, k-NN can be sensitive
to the choice of distance metric used to measure the
similarity between data points. k-NN has been used in a
wide range of applications, including image recognition,
recommendation systems, and anomaly detection. It is
particularly useful when the underlying distribution of
the data is not well known or when the decision boundary
is complex and nonlinear.</p>
        <p>Our Convolutional Neural Network (CNN) consists of
an input layer with images of size 224x224 and 3 RGB
channels. It has 7 convolutional layers with 64 filters of
size 3x3 and ReLU activation function. Batch
normalization layers follow each convolutional layer to normalize
the output of feature maps. Max pooling layers of size
2x2 reduce the dimension of feature maps and preserve
salient features. The final Max Pooling Layer is followed
by a Flatten Layer that converts the feature map into a
one-dimensional vector. The network has two fully
connected layers with 128 units and ReLU activation function
in the first layer, and a single unit with a sigmoid
activation function in the output layer. A Dropout Layer
with a dropout rate of 50% is added between the fully
connected layers to prevent overfitting. The output layer
has a single unit with a sigmoid activation function. The
model is compiled with binary cross-entropy loss, Adam
optimizer, and accuracy as the metric.</p>
        <p>The model is trained for 1000 epochs with a batch size
of 5, and its performance is evaluated on the validation set
(x_test, y_test). Early stopping is implemented to prevent
overfitting, where the model training is stopped if the
validation loss does not improve for a certain number of
epochs.</p>
      </sec>
      <sec id="sec-1-2">
        <title>The outcomes demonstrate that the Random Forests 3.3.2. Results</title>
        <p>classifier outperforms the others in terms of performance. Below are the results obtained from CNN (Table 3).
Notably, Random Forests have attained the highest
F1score, accuracy, and precision. On the other hand, k- Method Training Accuracy Validation Accuracy
Nearest Neighbors had the highest precision but the low- CNN 0.810 0.871
est recall. The fact that k-Nearest Neighbors is more
sensitive to noise and outliers in the data may cause its Table 3
low recall. On the other hand, Support Vector Machines Results of Convolutional Neural Network
had the highest recall but relatively lower precision. This
suggests that SVMs are more efective at identifying pos- Here are reported also the loss and accuracy plots for
itive and negative samples. Regarding precision and re- our model during training (Figure 1 &amp; Figure 2). The loss
call, Random Forests and Support Vector Machines have plot shows how the model’s training loss decreased over
demonstrated balanced performance, indicating that they each epoch, while the accuracy plot shows how well the
can handle unbalanced datasets. model performed on the training and validation data.
3.3. Convolutional Neural Network</p>
      </sec>
      <sec id="sec-1-3">
        <title>We also implemented a Convolutional Neural Network (CNN) to classify images. CNNs have been shown to</title>
      </sec>
      <sec id="sec-1-4">
        <title>The results of the CNN model show a relatively high training accuracy of 0.81, which indicates that the model has learned well from the training data. The validation</title>
      </sec>
    </sec>
    <sec id="sec-2">
      <title>4. Conclusions</title>
      <p>In conclusion, the results produced by CNN outperform
the efectiveness of the machine learning techniques
previously investigated. This implies that deep learning
methods could be a useful tool for identifying autism
from EEG signals. This study paves the way for
additional research in this area and shows the utility of deep
learning techniques for this application. Deep learning
models may be further developed and optimized in order
to increase the precision and reliability of autism
detection, which could ultimately result in an earlier diagnosis
and course of treatment for autistic people.</p>
    </sec>
  </body>
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