• Definition and Clinical Features:
    • Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in three key domains:
      • Social interaction
      • Communication
      • Repetitive and restricted behaviors
  • Epidemiology:
    • United States prevalence:
      • 17 cases per 1000 children aged 4 years
      • 18.5 cases per 1000 children aged 8 years
    • Europe prevalence:
      • Ranges from 3.8 to 15.5 cases per 1000 individuals
    • Actual prevalence may be underestimated due to:
      • Diagnostic challenges
      • Lack of reliable, sensitive, and specific biomarkers
  • Pathogenesis:
    • The exact etiology of ASD is multifactorial, involving:
      • Genetic predisposition
      • Environmental influences
      • Persistent inflammatory states
      • Immune dysregulation
    • Genetic factors include:
      • Mutations and polymorphisms in genes regulating synaptic function, neurotransmitter pathways, and immune responses
    • Neurobiological characteristics of ASD:
      • Abnormal synaptic connectivity
      • Imbalance in excitatory–inhibitory signaling
      • Dysregulation in neurotransmitter systems, including:
        • Serotonin
        • Dopamine
        • Glutamate
        • Gamma-aminobutyric acid (GABA)
    • Other critical factors implicated include:
      • Immune dysfunction and chronic inflammation
      • Oxidative stress
      • Metabolic abnormalities, notably mitochondrial dysfunction
    • Role of tetrahydrobiopterin (BH4):
      • Many implicated molecular and signaling pathways depend on the availability of 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4)
      • Alterations in BH4 metabolism may significantly contribute to the pathogenesis of ASD
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