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ALS mutations do not alter perineuronal net formation in human stem cell-derived motor neurons.

Authors: Kerins C, Lieberam I, Gentleman E
Journal: Communications biology
schizophrenia mental health open access

Abstract

Autism Spectrum Disorder (ASD), derived from the Greek root (meaning "self"), is a neurodevelopmental disorder first described by psychiatrist Leo Kanner in children with impaired social communication (). ASD is characterized by lifelong challenges in social interaction, communication, and repetitive behaviors, typically manifesting before age 3. Global prevalence approaches 1%, with males diagnosed 2–3 times more frequently than females (). Core symptoms include pervasive deficits in social communication and interaction, such as avoidance of eye contact, delayed language development, and difficulty interpreting nonverbal cues (e.g., facial expressions, gestures). Restricted/repetitive behaviors, including insistence on rigid routines, sensory hypersensitivity, and stereotyped movements (e.g., hand flapping), are also hallmark features (, ). While ASD’s exact cause remains unclear, genetic and environmental factors are implicated (). Genetic/epigenetic mechanisms, such as DNA methylation, histone modifications, and microRNA dysregulation, contribute to neurodevelopmental disruptions (). Environmental triggers, including advanced parental age, zinc deficiency, and prenatal viral infections, may exacerbate risk (). Neuroinflammation, characterized by elevated TNFα, IL-6, and disrupted endocannabinoid signaling, correlates with hypersensitivity and repetitive behaviors (). Animal studies using valproic acid-induced autism models show increased TNFα, IL-6, and IL1-β, alongside reduced non-inflammatory cytokines (, , ).