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Autism spectrum disorder (ASD)

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Overview


Plain-Language Overview

Autism spectrum disorder (ASD) is a developmental condition that affects the brain and how a person communicates and interacts with others. It primarily involves challenges with social communication, repetitive behaviors, and restricted interests. People with ASD may have difficulty understanding social cues, making eye contact, or engaging in typical conversations. The condition affects the nervous system, specifically brain development and connectivity. Symptoms usually appear in early childhood and can vary widely in severity. ASD is a lifelong condition that influences learning, behavior, and daily functioning.

Clinical Definition

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and social interaction across multiple contexts, alongside restricted, repetitive patterns of behavior, interests, or activities. The core pathology involves atypical brain connectivity and synaptic function, often linked to genetic and environmental factors, including mutations in genes such as SHANK3 and NRXN1. ASD manifests early in childhood and significantly impacts social reciprocity, nonverbal communicative behaviors, and the ability to develop and maintain relationships. The disorder is clinically significant due to its impact on cognitive, emotional, and adaptive functioning, often requiring multidisciplinary management. Comorbidities such as intellectual disability, epilepsy, and anxiety disorders are common. Diagnosis is based on behavioral criteria, as there are no definitive biomarkers.

Clinical Presentation


Diagnostic Workup


Pathophysiology


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Outcome & Complications


Differential Diagnoses