I am a genetic counselor by training and as the title would suggest, I am interested in health conditions with a genetic or inherited basis, but also the psychosocial or “people” aspect of health and illness as well. Autism is a perfect example of the meshing together of psychosocial and genetic factors.
Autism, like many other conditions, has a big genetic component but also a big environment component. We describe this condition as heterogenous in nature. Some genetic conditions like Down syndrome, cystic fibrosis, and sickle cell anemia are one hundred percent genetic. Whereas other medical conditions such as infections, broken bones, and joint dislocations are almost always due to environmental factors with often little effect from our genetic makeup. Autism lies somewhere in the middle of this nature/nurture debate.
Autism is a highly variable developmental disorder with two distinguishing features:
- Difficulty with communication and social interactions
- Repetitive or restricted patterns of behavior and thoughts or cognitions
There has been a rise in the number of people diagnosed with autism in recent years. This is due to a number of factors such as:
- Increases in referrals
- Doctors and psychologists becoming better at diagnosing autism
- An increase in public awareness of the condition
In addition, there has also been a true increase in the cases of autism not explained by the previously mentioned factors and this is what research is currently investigating in the autism arena.
In most countries around the world, autism is diagnosed from criteria listed in a book called the Diagnostic and Statistical Manual of Mental Disorders, which is in its fifth edition (DSM V). In previous editions of the DSM, the diagnosis of autism was separated into different categories including Autistic Disorder, Asperger Syndrome, and Pervasive Developmental Disorder (not otherwise specified). In the latest incarnation of the DSM, autism is now described as Autism Spectrum Disorder (ASD) with different people falling on different parts of the spectrum.
When a child is diagnosed with autism the number one question asked by parents is why. They want to know how this happened. The next question is usually, what is the chance of this happening again. It’s important to note that ASD is a clinical diagnosis, which means that someone diagnosing ASD does so through observing the person’s behavior to see whether they meet the diagnostic criteria, not through a blood test.
Although there are blood tests and genetic examinations for autism, receiving a positive result does not necessarily mean that you have ASD. You may have ASD and have a genetic and/or biochemical test for autism and could receive a negative result – this does not mean that you do not have ASD. It could mean that you have ASD and it was not found on that particular test. And the opposite is true; you may not have ASD and could receive a positive result on a genetic test for autism. Not everyone who has a genetic factor for autism will go on to develop the condition.
If a parent suspects an issue in development with their child, they will take them to see a professional. Medical professionals can usually diagnose ASD from about the age of two. Early symptoms usually include:
- Social isolation (i.e. they choose to not play or interact with other children)
- Not wanting to share items or interests
- Peculiar attachment to an item
- Lack of smiling by the age of 6 months
- Avoid eye contact
- Lack of communication
Baylor Genetics offers several genetic tests that can detect different risk factors for autism, such as:
- Comprehensive Autism Panel – Female Specific
- Comprehensive Autism Panel – Male Specific
- Proband Whole Exome Sequencing Plus CMA
- Global Metabolomic Assisted Pathway Screen
Testing positive on one of these tests means that the person tested has a genetic or medical variation which is linked to autism. The benefit of knowing this may include changing the management of the patient, an increase in funding opportunities for early intervention and can provide reproductive options.
One fascinating area of research in ASD is the use of virtual reality with people that have ASD who are nonverbal. Using technology to facilitate communication with this group who previously had little means of communication is uplifting. I hope that people with ASD can benefit from this meshing of disability and technology to increase their wellbeing.