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  <front>
    <journal-meta>
      <journal-title-group>
        <journal-title>W. Ceusters and B. Smith. Foundations for a realist ontology
of mental disease. J Biomed Semantics</journal-title>
      </journal-title-group>
    </journal-meta>
    <article-meta>
      <title-group>
        <article-title>Towards an Ontology-Driven Machine Learning Approach to the Diagnosis Classification Problem in Autism Spectrum Disorder</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Fumiaki Toyoshima</string-name>
          <email>fumiakit@buffalo.edu</email>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Fumiaki Toyoshima</institution>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Graduate School of Advanced Science and Technology, Japan Advanced Institute of Science and Technology</institution>
          ,
          <addr-line>Nomi</addr-line>
          ,
          <country country="JP">Japan</country>
        </aff>
      </contrib-group>
      <pub-date>
        <year>2018</year>
      </pub-date>
      <volume>1</volume>
      <issue>10</issue>
      <abstract>
        <p>Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is characterized by social, communicational, and behavioral impairment. This research aims to develop an ontology-driven machine learning approach to the ASD diagnosis classification problem with respect to feature selection. As a first step, we analyzed ASD in terms of the Mental Disease Ontology (MD) and discussed from the MD perspective on ASD a machine learning analysis of an ASDrelated dataset based on the support vector machine.</p>
      </abstract>
      <kwd-group>
        <kwd>autism spectrum disorder</kwd>
        <kwd>machine learning</kwd>
        <kwd>Open Biomedical Ontologies (OBO) Foundry</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>Introduction</title>
      <p>Autism Spectrum Disorder (ASD) is a neurodevelopmental
disorder that is characterized by impaired social and
communication skills as well as by restricted and repetitive
patterns of behavior. One central issue with existing clinical
ASD-diagnosis methods is that they require a considerable
amount of time. This problem stimulates an increasing interest
in the application of machine learning methods to the
amelioration of ASD screening and diagnostic instruments [1].
Despite its potentiality, the machine learning approach presently
used may have its limitations with respect to feature selection. In
this research we aim to develop an ontology-driven machine
learning approach [2] to the ASD disgnosis classification.</p>
    </sec>
    <sec id="sec-2">
      <title>Methods and Results</title>
      <p>We interpreted ASD in terms of the Mental Disease Ontology
(MD) [3] which is built in compliance with the Open
Biomedical Ontologies (OBO) Foundry, where a mental disease
is a disease to undergo pathological mental processes. From the
MD perspective on ASD, we considered a machine learning
analysis of part of Thabtah’s [1] ASD-related dataset
representing the predictivity of all the six possible pairs among
the following four features with respect to accuracy: (i) Born
with jaundice; (ii) Family member with Pervasive Development
Disorder (PDD); (iii) Country of residence; and (iv) Screening
Score (see Table 1). In this data analysis, we utilized the Support
Vector Machine (SVM): a (supervised) learning system based
on kernel methods that is used especially for (binary)
classification or regression analysis. In particular, we employed
the SVM with the (Gaussian) Radial Basis Function (RBF)
kernel: one of the most widely used nonlinear kernels.</p>
      <p>Table 1 – Accuracy of the ASD Diagnosis Classification
Feature 1
(i) Jaundice
(i) Jaundice
(i) Jaundice
(ii) Family with PDD
(ii) Family with PDD
(iii) Residence</p>
    </sec>
    <sec id="sec-3">
      <title>Conclusions</title>
      <p>Feature 2
(ii) Jaundice
(iii) Residence
(iv) Screening Score
(iii) Residence
(iv) Screening Score
(iv) Screening Score</p>
      <p>Accuracy
0.577
0.712
1.000
0.750
1.000
0.942
Our observations show that the MD interpretation of ASD can
be expected to boost the credibility of the SVM approach to the
ASD diagnostic performance. Future work includes search for
more suitable parameters than RBF kernels and accuracy for
machine learning algorithms for the ASD classification which
build upon our own data collection and the DSM-V [4] criteria.</p>
    </sec>
    <sec id="sec-4">
      <title>Acknowledgements</title>
      <p>I am grateful to Tomoaki Hashizaki for helping my data analysis
and giving me some constructive comments.</p>
    </sec>
    <sec id="sec-5">
      <title>Address for correspondence</title>
    </sec>
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