How is autism diagnosed in children and in adults? What are the clinical assessment tools like CARS and ISAA for autism screening? Which blood tests and genetic tests are used for diagnosing autism spectrum disorder? Also learn about the use of BERA audiometry, EEG, MRI scan etc. Is it worth getting an autism diagnosis?

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Autism Diagnosis – How is Autism Diagnosed Clinical screening, CARS, Blood & Gentic tests

Hello friends.

I am Dr. Manish Bhatia your friend and your autism guide. Today we are going to discuss “How autism is diagnosed?”

What are the tests that we have for diagnosing Autism?

Do we have any blood test?

Do we have any genetic test that we can use to diagnose autism?

Autism is primarily a clinical diagnosis. We diagnose autism primarily on the basis of signs and symptoms that your child is presenting with. If we are able to see neural development deficits in the area of language development and the area of social and cognitive development and along with it some behavioural patterns that are characterised with autism, then we have a probable diagnosis that your child is suffering from autism spectrum disorder.

Most of the time your paediatrician, your neuro paediatrician, your development paediatrician or paediatric psychiatrist, these are the people who are able to do this kind of diagnosis and give evaluation with fair certainty.

So apart from this clinical diagnosis, we do have some numerical scales that we can use to ascertain whether a child is autistic or not. The most popular of these scales is called CARS. That is the Childhood Autism Rating Scale, which is the most commonly used scale for measuring the level of autism in a child. It can also be used to diagnose whether the child is autistic or not.

Along with CARS there is an Indian version of CARS which is called Indian Scale for Autism Assessment (ISAA), which we very commonly use at our center Asha Homeopathy.

So these two scales we use for evaluating whether a child is autistic and if the child is autistic how severely autistic the child is?

Apart from these scales, the next question that comes up is “are there any blood tests for diagnosing the autism?”

We are speaking here towards the end of 2019 and so far there are no commercially available blood tests which can give you a fair and certain diagnosis of autism.

There are a lot of tests in progress which are being developed using various biomarkers. But they are still al experimental.

They are at least three different tests that I am aware of that are being developed but they are all experimental because a lot of biomarkers get tested for every disease but not all become commercially available. For example, out of all the biomarkers that get tested for cancer only 0.1% becomes commercially available.

So right now we have just started developing these tests with different biomarkers and different metabolic derivatives which we are able to ascertain that these diagnostic tests at a very early stage can help diagnose autism with a success rate of close to 80% but they are still experimental and not commercially available. May be is a couple of years we will see these kits available.

Then the next question that often comes up is “are there any genetic tests available for diagnosing autism?”

Again I’ll say that as of now we do not have any genetic tests available for diagnosing autism with certainty. We do conduct some tests which can help us identify additional and similar disorders like fragile X Syndrome, Down Syndrome etc, but we do not have a certain diagnostic test which helps us diagnose autism spectrum disorder by evaluating the genetic markup. And one of the reasons for this is that we have not been able to identify one or two genes that we can test for.

As of now, there are nearly a hundred genes which have been implicated for development of autism and out of these hundred, nearly twenty-seven are high probability genes. And within these genes, there can be different kinds of alternations, mutations etc, and for a diagnostic test to develop, we need to test for all of these different possibilities, different genes, different variations.

So as of now, as of today, we do not have any specific test, a genetic test for diagnosing autism.

Apart from these tests, we prefer to have some more tests for diagnosing autistic children. One is Magnetic Resonance Imaging of a child’s brain.

How it helps?

In certain cases, a CT scan or an MRI can help us evaluate whether there is a developmental problem, gross developmental problems in a child. For example, in cases of Microcephaly or in cases of Hydrocephalus, we can easily see that there are certain changes in the development of the brain and we know what these changes are and how they are related to the symptoms of the child.

Then another test that we are recommending every child who comes to me is BERA Audiometry that is Brainstem Evoked Response Audiometry. It is a test of hearing that we run for children and the reason audiometry is an essential test for all these children is because if a child does not hear, he or she will have symptoms very similar to autism.

Without the ability to hear the child will never develop speech properly, the child will not respond to your verbal command or social cues and you can misdiagnose your child as autistic.

In my own clinical practice, I have come across children who come to me with a diagnosis of autism and them we get the BERA test done and we realize that the child is hearing impaired and you give the child hearing aid and the child develops beautifully.

So we need to understand that hearing abnormalities are fairly common in children.

How common? Nearly five out of every one thousand children have some kind of hearing anomaly.

So we need to ensure, we need to rule out that any child who is coming to you as autistic, does not have any impaired hearing.

A lot of time parents come to us and say that our child hears whenever there is a loud sound or whenever the television is on, the child will come running. That is fine. The child might be able to hear but the hearing might be partial. I have come across children who are deaf from one ear and they have very partial hearing from the second ear. So they can hear but what they can hear is very muffled or not very clear and that affects their language development and response to language and to commands.

So we need to ensure that any child who is coming to us with a probable diagnosis of autism is ruled out of any hearing impairment.

Along with it, we also, in certain cases, recommend an EEG or electroencephalogram, which records the brain activity, electrical activity in the brain.

It is especially recommended in children where there is an associated complain of convulsions, which is fairly common in many children these days.

So we need to rule out these associated problems also and these are the primary tests that we run for autistic children. The main method of evaluation remains clinical. CARS scale and ISAA scale that we use these are the bedrock of diagnosis all the other tests are used as either confirmatory or to rule out the other disorders.

So this is all that you need to know about diagnosing autism using different diagnostic tests and criteria.

I hope you find this information useful.

If you have any more questions regarding autism, its diagnosis, or homeopathy medicine for autism. Please visit doctorbhatia.com and you can post your questions there, I will be happy to help.

Thank you.