Genetic Health Child Development Autism

Autism and genetics research has recently become a popular topic. Once believed to occur from environmental factors, researchers are now finding out that genetics may play more of a role in the disorder’s development. Abnormalities in certain chromosomes inherited from the parents of a child are one of the causes researchers are focusing on. However, studies have shown that some of these abnormalities occur spontaneously.

Understanding Autism

Statistically, one in 700 children receive a diagnosis of autism and boys are four times more likely than girls to have this disorder. Autism, also known as pervasive developmental disorder (PDD), manifests itself in three areas:

  • behavior (repetitive movements)
  • communication (speech difficulties)
  • socialization (how the person interacts with others).

The severity of symptoms, language development, and age of onset are three factors used to identify whether someone has one of the five types of autism:

  • Asperger disorder
  • autistic disorder
  • childhood disintegrative disorder
  • pervasive developmental disorder (not otherwise specified)
  • Rett disorder.

When is Autism Caused by Genetics

Autism and genetics research has found that many individuals with autistic disorder also have chromosomal abnormalities. Specifically, individuals who have the following types of disorders were often found to possess chromosomal abnormalities:

  • Angelman syndrome
  • Fragile X syndrome
  • Isodicentric
  • Neurofibromatosis type 1
  • Prader/Willi/Angelman syndrome
  • Rett disorder
  • Smith-Lemli-Optiz syndrome
  • Sotos syndrome
  • Subtelomere
  • Tuberous sclerosis complex.

These abnormalities occur (depending on the syndrome) on chromosomes 5, 9, 11, 15, and 16. Abnormalities on chromosome 15 seem to be the most frequent cause for genetic conditions in autistic disorder.

Blood tests, physical exams, and DNA testing are the most common ways to detect autistic disorder with a genetic condition. Even though there is evidence that these chromosome abnormalities exist in individuals with autism, many people still believe that environment plays a role in the development of the disorder.

Autism and Genetics: Spontaneous Mutations

Kenny Ye, one member of a team of researchers at Albert Einstein College of Medicine, found that most autism cases involved gene mutations in the sperm or egg of the parents. In their study, many of the parents were older, which leads them to believe this may be a factor in the mutation. In this particular study, results didn’t yield any specific genes as the cause of autism but the team believes it could be many genes contributing to the development of the disorder.

Autism and Genetics: Environmental Effects

There is debate on whether autism is primarily a genetic based disorder or if environment also contributes to its onset. Genetics and autism research finds that it is possible that chromosomal abnormalities may make someone susceptible to certain environmental effects. For instance, some chemicals may contribute to the development of the disorder because the person is predisposed to it.

Treatment for Autism

With more autism and genetics research, geneticists can start to find ways to help individuals with this disorder. Today, children with autism take medication to control symptoms and receive therapy for their behavior and communication problems. With additional research and information on the topic of autism and genetics, geneticists hope new findings will emerge to protect and treat children as soon as the disorder is detected.


Michael J. Dougherty (2000). The Genetics of Autism. Retrieved September 16, 2008, from Action Bioscience Web site:

Miranda Hitti (2007). New Theory on Autism and Genetics Most Autism Cases Linked to Spontaneous Gene Mutations. Retrieved September 16, 2008, from WebMD Web site:

Exploring Autism (n.d.) What is Autism? Genetic Conditions Associated with Autistic Disorder. Retrieved September 16, 2008, from Exploring Autism Web site: