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No significant differences have been found between the results of twin and sibling studies. However, the observed genetic differences, although they result in atypical neurology and behavior considered abnormal, have not been shown to be the pathological origin.

Two genes related to autism have been found that are also related to epilepsy, the CNS1A that causes Dravet syndrome and the PCDH19 that causes the EFMR syndrome also called Juberg Hellman. Loss deletions of PCDH 10 have also been found that have been directly related to autism spectrum disorders.47

Recently, another gene more involved in the development of autism and the association between epilepsy and autism has been discovered, two genes are already known, in 2001 the SNC1A was found, in 2009 the relationship with PCDH19 was discovered and in April 2011 SYN1 has been found in a Canadian family.48

Other research has found that the hormone oxytocin could play a relevant role in the onset of autism.49 In the brain, the hormone oxytocin appears to be involved in the recognition and establishment of social relationships and could be involved in the formation of trusting relationships50 And generosity.51

Current evidence indicates that the fronto-striatum and cerebellar motor systems are the main areas affected in people with autism spectrum disorders, both anatomically and functionally.52

Reduced number of Purkinje cells (neurons in the cerebellum that control motor function, balance, gait, and speech) and cerebellar hypoplasia are the neurological disorders that have been most clearly associated with ASDs. In fact, the cerebellum is essential in the development of communication, basic motor, cognitive and social abilities, and repetitive / restrictive behaviors, all of which are altered in people with these disorders.52

Although twin studies indicate that autism is highly heritable, they also seem to indicate that the level of functioning of people with autism may be affected by some environmental factor, at least in a portion of cases. One possibility is that many people diagnosed with autism actually have an unknown autism-like condition caused by environmental factors – a phenocopy. In fact, some researchers have postulated that there is no “autism” itself, but rather a host of unknown conditions that manifest in a similar way.

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