This is the first human study on ASD microbiome with robust methodologies: prospective and sibling designs, metagenomics profiles, establishing an ASD multi-dimensional databank (clinic, behavior, neurocognition, brain imaging, metabolomics, and microbiome) collected using the same methodology and genetic biology simultaneously, and developing a deep learning platform for ASD diagnosis and prevention. With the accomplishment of this project, we anticipate establishing a web application for clinical and academic use. Our findings will further advance the knowledge in the pathogenetic mechanisms of ASD to enhance early detection, diagnosis, and treatment, subsequently contributing to precision medicine.
Due to the high prevalence (1% in Taiwan), long-lasting impairment, unclear etiologies, and a lack of effective detection, prevention, and biological treatment, autism spectrum disorder (ASD) has been prioritized for biomarker, mechanism, and treatment research. Recently the gut-brain-axis has been proved, mainly with animal models, to be altered in psychiatric disorders and notably in ASD. With PI Gau's long-term achievement in ASD multi-dimensional research and our preliminary finding of altered gut microbiota in ASD and their unaffected siblings, we propose this 4-year prospective large-scale study with sibling design and multi-dimensional measures (environmental, clinical, cognitive, imaging, gut microbiome, metabolome) to establish a deep learning algorithm platform for predicting ASD and searching potential biomarkers and probiotic treatment for ASD. Specific Aims: 1. To demonstrate the metagenomics profiles analysis based on the gut microbiome and metabolome of ASD patients, unaffected siblings, and typically developing controls (TDC). 2. To investigate environmental factors such as pregnancy and birth history from the mother's medical records and interviews or national health insurance data, for the microbiome, metagenomics, and brain anatomy and function. 3. To develop a deep learning algorithm platform using the environmental, behavioral/clinical phenotypes, neurocognitive/imaging endophenotypes, and metagenomics profiles to identify microbiota (metagenomics, too) makers and other predictors for ASD diagnosis, subtypes, and level of impairments. 4. To establish a web application based on our deep learning algorithm platform for clinical use to assist medical doctors in diagnosing ASD.
Study Type
OBSERVATIONAL
Enrollment
420
Autism Diagnostic Interview-revised (ADI-R) and Autism Diagnostic Observation Scale (ADOS)
Kiddie Schedule for Affective Disorders \& Schizophrenia (K-SADS) for DSM-5
National Taiwan Univeristy Hospital
Taipei, Taiwan
RECRUITINGAutism diagnostic interview (ADI-R)
Including reciprocal social interaction, communication, and repetitive behaviors and stereotyped patterns, for children with a mental age from about 18 months into adulthood
Time frame: 4 hours
Neuropsychological functions: Continuous Performance Test(CPT)
The 4 dimensions of CCPT: focused attention, hyperactivity/impulsivity, sustained attention, and vigilance
Time frame: 15 minutes
Neuropsychological functions: Cambridge Neuropsychological Test Automated Batteries(CANTAB)
The 4 main cognitive components of CANTAB: Visual Memory, Attention, Working and Planning Memory (Executive Functions), and Decision Making
Time frame: 1.5 hours
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