Monday, February 16, 2026

Autism spectrum disorder

 Autism spectrum disorder (ASD) is caused by a 

complex combination of genetic factors and

 environmental influences that affect early brain development.

It does not have one single cause; rather, 

it results from multiple genetic mutations, 

sometimes in combination with environmental stressors during pregnancy or birth. 

Genetic Factors: Genetics play a major role, as ASD can run in families, and spontaneous genetic mutations can occur.

 Only about 15-20% of cases are linked to a known genetic disorder, with the rest involving complex, multiple genetic variations.

Environmental Influences: Exposure during pregnancy, such as certain medications (e.g., valproic acid), air pollution, or, in rare cases, specific maternal infections, may increase risk.

Parental Age: Advanced maternal age (over 40) or paternal age (over 50) at conception are linked to higher risks.

Pregnancy and Birth Complications: Extreme prematurity (before 26 weeks), very low birth weight, or birth complications involving oxygen deprivation to the brain can increase risk. 

  • Vaccines: Multiple studies have disproven any link between vaccines and autism. 
  • Are you looking for information on early signs to watch for in infants, or are you interested in the genetic testing options available for families?
  • Early detection and understanding the genetic landscape are key steps for families. 
  • While autism is a behavioral diagnosis, specific physical and social "red flags" can appear in infancy, and genetic testing can often provide an underlying explanation for the condition. 
  • Chromosomal Microarray (CMA): The "first-tier" test
Fragile X Testing