Differences between Autism & Down Syndrome


What’s the difference between Autism and Down syndrome.

Can it be both?

There is certainly a difference and it’s important to know. Let me explain.


Autism occurs in one out of 59 children in the US. Core deficits in autism are identified in two domains.

The first is social communication interaction. What does that mean? It means abnormalities in understanding the intent of others. Diminished interactive eye contact and atypical use and understanding of gestures as well as pretend play. Symptoms of autism are further shaped by deficits in imitation and processing information across sensory modalities such as vision and also hearing.

The second is restrictive, repetitive patterns of behavior. Repetitive behaviors can be primary compulsions, but may also be related to problems in sensory processing. And it also could reflect a desire to instill predictability when an individual doesn’t understand the intent of others. Many times when this is done, it’s to calm down and gets labeled as self-stimulatory behavior.

Autism is diagnosed through observation. There’s no genetic test or any lab test that can be done to diagnose autism. There is debate as to how genetics is involved in autism. To date, there is not one specific autism gene.

Down Syndrome

Down syndrome is a genetic condition in which a person has an extra chromosome, specifically on Chromosome-21. Down syndrome is also called Trisomy 21 because of that extra, third chromosome. Down syndrome causes a distinct facial appearance, potential intellectual disability, developmental delays and may be associated with thyroid or heart disease or other health problems as well. Since Down syndrome is genetic, a test can be done on the fetus when the mom is in the second trimester.

The similarities of autism and Down syndrome are that they might have intellectual disabilities. There might be developmental delays, speech delays, and also other co-occurring health conditions. A large difference between autism and Down syndrome is the way a diagnosis is made. For Autism, there’s no lab test, whereas, for Down syndrome, a test can be done even while the mom is still pregnant.

Autism can co-occur in someone who has Down syndrome. In fact, many studies show that there is a high prevalence of autism in those with Down syndrome. And this is new research. This is a new area that’s starting to be studied more.

Research has shown significant associations between plasma metabolites and neurodevelopmental outcomes. Despite the varied origins of developmental disabilities, researchers found similar changes in the metabolism pathway among those with Down syndrome and those with autism.

Mitochondrial dysfunction is also present in many with autism, as well as those with Down syndrome. So there is similarity and that’s being researched more and more.

Researchers know there is some type of link, but they haven’t quite figured it out yet. And those are the similarities and differences between autism and Down syndrome.

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