Autism Spectrum Disorder

Autism spectrum disorder is commonly known for its social impairment, and the symptoms include abnormal social interaction and communication, and stereotyped behaviors with restricted interest. The neural mechanisms responsible for these behavioral symptoms have been intensively investigated by the scientific community in the last 30 years.
Researchers genetically modify rodents in order to better understand how Autism affects the brain. The genetic mutations produce a range of symptoms similar with the symptoms found in humans, but how the genetic mutations lead to behavioral symptoms of Autism is not fully understood.
Between the potential mechanisms underlying Autism are: neuroanatomical abnormalities, and excitatory and inhibitory imbalance. How these mechanisms are related, and how they give rise to autism is still being investigated.
Neuroanatomical abnormalities result from abnormalities in brain development, that can be caused by gene mutations, inappropriate levels of neurotrophines (a family of proteins that induce the survival, development, and function of neurons. They belong to a class of growth factors, secreted proteins that are capable of signaling particular cells to survive, differentiate, or grow), and environmental factors which, together or independently, are affecting brain development and leading to pathological states.
The brain can have excitatory and inhibitory synapses, that together, work in a balance that maintain our normal functioning, filtering main information and inhibiting “noisy” information. To maintain such balance, many proteins and neurotransmitters work together. In autism, the brain displays local over-connectivity and long range or inter-regional under-connectivity, both caused by excitatory and inhibitory imbalance. The imbalance is mainly caused by a flaw in one or more of the proteins responsible for maintaining the proper functioning of synapses. The defects in the proteins can be a result of gene mutations and environmental factors.
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The causes that lead to the onset of autism are still not fully understood, but with the scientific advancement, researchers are getting close to understand how the autistic brain is being affected by gene mutations and how we could target specific proteins in order to treat the disorder.