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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

72
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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Modeling in Therapy01:26

Modeling in Therapy

55
Modeling, a key technique in therapy, uses observational learning to help clients acquire and practice new skills by watching therapists demonstrate desired behaviors. This approach, rooted in Albert Bandura's concept of vicarious learning, plays a significant role in therapeutic interventions for various psychological conditions, including social anxiety, ADHD, and depression.
Participant Modeling
Participant modeling involves therapists demonstrating calm and effective behaviors in...
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Related Experiment Video

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Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
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Beyond the Spectrum: Subtype-Specific Molecular Insights into Autism Spectrum Disorder Via Multimodal Data

Javad Zahiri1, Mehdi Mirzaie2, Kuaikuai Duan1

  • 1Autism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.

Medrxiv : the Preprint Server for Health Sciences
|October 14, 2024
PubMed
Summary
This summary is machine-generated.

Researchers identified distinct biological pathways contributing to autism spectrum disorder (ASD) severity. Profound autism is linked to embryonic gene pathway dysregulation, while common pathways influence ASD symptom severity across subtypes.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism spectrum disorder (ASD) presents with a wide range of symptom severity, from mild to profound.
  • Profound autism, characterized by severe social, language, and cognitive deficits, is associated with a higher risk of poor developmental outcomes.
  • The underlying biology of profound autism, particularly its embryonic origins, remains largely unknown.

Purpose of the Study:

  • To investigate the molecular biology underlying distinct clinical subtypes of autism spectrum disorder (ASD).
  • To identify subtype-specific and subtype-common gene pathways associated with varying ASD severity.
  • To form a new hypothesis on the genetic drivers of ASD heterogeneity.

Main Methods:

  • Integrated clinical and molecular data from 363 toddlers (ASD and controls) using data-driven subtyping.
  • Clinical data included diagnostic, language, cognitive, and adaptive ability scores.
  • Molecular data comprised 50 MSigDB Hallmark gene pathway activity scores from RNAseq gene expression.

Main Results:

  • Four clusters were identified: profound autism, control, moderate ability ASD, and mild ASD/control mix.
  • Profound autism exhibited the most severe clinical symptoms and the greatest age-related decline.
  • Seven subtype-specific gene pathways related to embryonic development were found in profound autism, alongside 17 subtype-common pathways showing a severity gradient.

Conclusions:

  • ASD heterogeneity is influenced by subtype-common pathways, with severity correlating with pathway dysregulation.
  • Profound autism's distinct characteristics are driven by the addition of specific embryonic gene pathways.
  • This study provides foundational knowledge for understanding the molecular basis of ASD subtypes.