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What Do These Lab Reports Indicate?

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Posted on Tue, 8 Aug 2017
Question: hi
I am XXXX. My elder son is 2 yr 9 months old and he is not concerntrading what we/his teacher said . I showed him to one of our famous doctor- Anayta Hegde in XXXXXXX The doctor said it may be a sign of Autism but they are not confident. We have done genetic test as recommend by Doctor but as per the reports there is no clinically relevant CNC is observed but still I observed that concerntradion of my child is lesser than other children.
In addition to that my child is not forget anything, he is speaking on 1or 2 words, he speak more than 150 words when I show the pictures to him.
I am quite confused and scared that is he suffering in Autism. Can you plz suggest?
doctor
Answered by Dr. Sumanth Amperayani (31 minutes later)
Brief Answer:
Your son needs a clinical geneticist opinion

Detailed Answer:
Hi... I understand your concern. Your son requires a clinical geneticist opinion, rather than a the genetic testing like this in a laboratory.

The Other clinical points which need to be ascertained by a clinical geneticist will be -

1. Dysmorphic facies - as in the report they had mentioned about hypertelorism, which means his eyes are widely spaced.

2. Any discrepancy in the hands and feet including finger spacing and the creases on his palms and soles.

3. Psychological assessment by certain clinically approved psychological tests by a trained paediatric clinical psychologist.

4. Lack of concentration does not represent only autism. it might be an attention deficit hyperactivity also. Please do not think that I am scaring you are confusing you more.

If I was your pediatrician I would have first got a paediatric clinical psychological assessment of your kid by approved tests which they use.

Based on the assessment result I would have further suggested any further genetic testing, if required.

Apart from that I would also have taken opinion from a clinical geneticist.

These two are the things which I suggest for your son XXXXXXX right now.

Regards - Dr. Sumanth
Note: For further queries related to your child health, Talk to a Pediatrician. Click here to Book a Consultation.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
Answered by
Dr.
Dr. Sumanth Amperayani

Pediatrician, Pulmonology

Practicing since :2003

Answered : 8339 Questions

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What Do These Lab Reports Indicate?

Brief Answer: Your son needs a clinical geneticist opinion Detailed Answer: Hi... I understand your concern. Your son requires a clinical geneticist opinion, rather than a the genetic testing like this in a laboratory. The Other clinical points which need to be ascertained by a clinical geneticist will be - 1. Dysmorphic facies - as in the report they had mentioned about hypertelorism, which means his eyes are widely spaced. 2. Any discrepancy in the hands and feet including finger spacing and the creases on his palms and soles. 3. Psychological assessment by certain clinically approved psychological tests by a trained paediatric clinical psychologist. 4. Lack of concentration does not represent only autism. it might be an attention deficit hyperactivity also. Please do not think that I am scaring you are confusing you more. If I was your pediatrician I would have first got a paediatric clinical psychological assessment of your kid by approved tests which they use. Based on the assessment result I would have further suggested any further genetic testing, if required. Apart from that I would also have taken opinion from a clinical geneticist. These two are the things which I suggest for your son XXXXXXX right now. Regards - Dr. Sumanth