Autism Spectrum Disorder Etiology

The exact causes of ASD is still unknown, it is the result of Genetic and Non-Genetic risk

factors and their interactions (Amaral D., 2017 ). Autism Spectrum Disorder is a spectrum

because the disorder differs from kid to kid, so do the causes. In most cases multiple factors are

responsible for developing the signs of ASD. It might be multiple non genetic factors or it might

be multiple genetic factors or mix. Today there are also known cases which were caused by a

single gene defect - Monogenetic cause.

Genetic causes Mix causes

Gene defects and chromosomal anomalies contribute to the genetic reason for ASD by

interfering with normal neural development. Genetic reason triggers the decease development in

10-20% of known cases with ASD. The genetic trigger might occur by two different directions.

First, the defected gene might come either from mother or father and together with other risk

factors contribute to the ASD. In such cases kids have genetic predisposition, and having a

sibling with autism increases the likelihood for other siblings to develop disorder. Fregile X

syndrome, Williams Syndrome, Angelman Syndrome are examples of genetically predisposed

deceases which can contribute to the ASD. ?

Second, the single gene mutation, named De Novo, which did not come from mother or father

but mutated within the prenatal period, might cause changes in neural development and affect

synaptogenesis which leads to abnormal neural synchronization .

Chromosomal abnormalities lead to disruption of neural connections and overall impact

the brain development. Not all chromosome abnormalities might trigger ASD, the most

important are 2q, 7q, 15q,and 16p chromosomes.

Metabolic deficiency also was found as a trigger in 5% cases. The most recent findings have

identified the correlation of cerebellar developmental gene ENGRAILED 2 with ASD. Today it

is the most prevalent cause of ASD, it was found in 40% of all cases.

Under non-genetic triggers there are multiple factors which can contribute to the

development of ASD. Prenatal, perinatal and postnatal period are very important because it is

time when ASD might be triggered. Prenatal exposure to teratogenes such as thalidomide, certain

viral infections can trigger ASD development.And maternal anticonvulsants such as valproic

acid, low birth weight, abnormally short gestation length, and birth asphyxia are the perinatal

factors . Post-natal factors which can trigger ASD associated autoimmune disease, viral

infection, hypoxia, mercury toxicity, and others.

The causes and etiology of disorder is far from well known. Many researches are being

conducted at present time and many more researches need to be done. Regardless of the primary

cause which triggers the ASD, it affects the normal brain development, decreases the

synaptogenesis, leads to functional abnormalities and overall causes the dysfunction of neurons

responsible for socioemotional processes (Hashimoto, Toshiaki & Tayama, 2016)

 Autism Spectrum Disorder
Causes

Non-Genetic Factors.
Genetic Factors

Gene Defects Chromosomal Prenatal Perinatal Postnatal

Anomalies triggers triggers triggers

- Defected gene from Vulnarable -Teratogenes: -Mother’s -Toxins

mom or dad. chromosomes: 2q, thalidomide, diest, -Immune
- De Novo -Gene 7q, 15q,and 16p -viral - system
mutation and the infections, Environmental function
abnormal neural -valproic acid factors -Metabolic
synthronization as a -microbes -Drugs errors
result -diet -law birth
- weight
-Metabolic disorders Pharmaceutical -Hypoxia
drugs -Birth Trauma
-Cerebellar
developmental pattern
deviation
Cerebellum is the part of our brain responsible for motor control
Metabolic disorders 5%

Genetic triggers 20%

cerebellar developmental patterning 40%

Examining the Causes of Autism

David G. Amaral 2017 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501015/

https://www.researchgate.net/publication/236959362_Is_autism_a_disease_of_the_cerebellum_

2016, An_integration_of_clinical_and_pre-clinical_research, experimental Neurology

Hashimoto, Toshiaki & Tayama, Masanobu & Murakawa, Kazuyosi & Yoshimoto, Tsutomu &

Miyazaki, Masahito & Harada, Ｍａｓａｓｈｉ & Kuroda, Yasuhiro. (1995). Development of

the brainstem and cerebellum in autistic patients. Journal of autism and developmental disorders.

25. 1-18. 10.1007/BF02178163.