Clinical, Environmental, Neurocognitive, Brain Imaging, and Genetic Validity of Autism and ADHD
Condition: Attention Deficit Hyperactivity Disorder; Autism Spectrum Disorder
MeSH terms: Hyperkinesis; Autistic Disorder; Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder
Study type: Observational

Summary: 
      The behavioral patterns, neurocognitive and social impairments, and high heritability are the
      common characteristics of autism spectrum disorders (ASD) and attention-deficit hyperactivity
      disorder (ADHD), the two most common early-onset neuropsychiatric disorders. Little is known
      about the discriminative validity between these two disorders. As brain imaging studies have
      been recognized as an important biological tool to validate disease involving the brain, no
      studies have employed this approach to distinguish the brain functioning between ASD and
      ADHD. Moreover, there is lack of comprehensive data of environmental, behavioral,
      neurocognitive, neuroimaging, and genetic data for healthy children. Hence, we propose this
      program project involving expertise researchers in the fields of child psychiatry and
      psychology, psychiatric genetics, and brain imaging studies to elucidate the
      neuropathophysiology and genes & environment interactions of ASD and ADHD as comparing to
      healthy controls by integrating data from environments, behavioral phenotypes,
      endophenotypes, and genotypes in one study.
    

Detailed description: 
      Specific Aims:

        1. To compare the individual phenotypes (emotion/behaviors, attention, impulsivity, etc.),
           endophenotypes (neurocognitive and social cognitive function, brain imaging), and
           genotypes, and growing environments (prenatal and developmental history, family, school,
           and social functions) among ASD, ADHD, and normal children to search for etiologies and
           developmental psychopathologies for ASD and ADHD and to test the discriminative validity
           of /between ASD and ADHD; and

        2. To examine whether the correlations and interactions among/within behavioral phenotypes,
           endophenotypes, genotypes, and environments vary across the three groups.

      This 3-year program project consists of three projects investigating a sample, aged 8-17
      years, of 100ASD, 100ADHD, and 100 normally developing children and adolescents.

        1. Using diagnostic interviews, observation, self-administered questionnaires, social
           cognitive tests (emotion recognition test, mentalizing test) and neurocognitive tests
           (CANTAB, CPT, WCST, WISC-III-R, Émbedded Figure Test, Global-local Perception Test), we
           will collect data from 300 subjects (100 for each group) regarding individual (phenotype
           & endophenotype) and growing environments.

        2. Using Diffusion Spectrum Imaging, resting-state functional MRI (fMRI), cognitive fMRI
           (fMRI- semantic association test, fMRI-stroop test), and template, we will collect brain
           imaging data from 90 subjects regarding individual endophenotype.

        3. We will collect the blood samples to establish the cell lines and to conduct SNP
           genotyping, haplotype, and copy number variation analysis.

      With accomplishment of this project, we will not only establish the genotypes for phenotype
      and endophenotype of general characteristics and assist identifying pathogenesis of ASD and
      ADHD, but also contribute the etiological studies on several adult psychiatric disorders in
      future prospective follow-up of this cohort.
    

Observational model: Case-Control
Time perspective: Other
Sampling method: Non-Probability Sample
Study population: 
        This 3-year program project consists of three projects investigating a sample, aged 8-17
        years, of 100 normally developing children and adolescents, 100 ADHD, and 100 ASD.
      
Biospecimen description: 
      The subjects will receive blood withdrawal. The blood sample will be used for establishing
      lymphoblastoid cell lines, which will be used for molecular genetic experiments
    
Keywords: attention-deficit hyperactivity disorder; autism spectrum disorders; normally developing children and adolescents; cognitive functions; emotion/behaviors; brain imaging; genotypes