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What causes global development delay in infant?

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Posted on Mon, 25 May 2015
Question: My child 22 Months Old, was born after complicated pregnancy, mother had issues like proteinuria, Itching, Even the blood flow to fetal as per Sonography was less on the left side, high heart beats of the Fetal so he had to be brought out. He was termed as IUGR baby. Birth Weight was 2.1 Kgs. Mother also had onset of HELLP syndrome. The Child since then is struggling for Motor skills. We have shown him to doctors, neurologists, had many tests performed like including Fragile X PCR, but still we are unable to arrive on exact diagnosis.
The problems being faced by him are as below:
1. He is 22 Months old, but other than blabbing PAPAPA he utters no words.
2. He cannot stand without support.
3. Does not chew.
4. Sometimes becomes too happy, or too rigid.
5. Crawling he started only in 17-18 Months.
His present weight is 10 Kgs. He is undergoing Physiotherapy on consultation with his pediatrics doctor.
Also, he vomits twice or sometimes once during day which is routine for him, even when fed with 1-2 spoons. We are not force feeding him.
Some doctors suggested Global Developmental Delay but no body could arrive on proper diagnosis, or even action to be taken other than asking us to wait n watch.
His MRI spine & Brain suggested Incidental Syrix on Spine to which neurosurgeon said, he is a Syndrome Child and we need to wait and watch and may be in every 6 Months need to do MRI again to see if Syrinx is not increasing.
On further XXXXXXX consultation with pediatric Neurologists he conducted some more test including Fragile X PCR whose report also is not 100 % clear, now he may be going for CMA . He too said Syndrome Child along with Delay of over 9 Months but reason, action or treatment nothing as of now.
We are really confused, as we have shown him to so many specialists, conducted so many tests yet unable to pin point why this.
Mother too during her pregnancy underwent FISH test, Amino for Down's which came back negative, even the child in 18 months underwent Amino just to recheck whose report too came back normal.
Kindly help us.. We are really worried for his delay.. Also why doctors keep on saying he is a Syndrome Child... and as to which syndrome no one has answers presently.
On doctors suggestion he is undergoing physiotherapy for past 3-4 months but still cannot walk independently or say anything or chew. Physiotherapists say he had Flat Feet so delay like this, but no one knows why???
Please guide us..
doctor
Answered by Dr. Arun (14 hours later)
Brief Answer:
Go ahead and get CMA test done

Detailed Answer:
Hi
Thanks for writing to us.
I have read your history and have seen the attached pictures.
CMA is recommended as the first XXXXXXX diagnostic test in the evaluation of all children with global developmental delay.
Many times it is difficult to identify the exact cause of global development delay which is when we label it as cryptogenic.
But don't lose hope.
Go ahead and get CMA done. It may help in arrive at diagnosis.
Continue speech and physiotherapy.
It may take many years to see improvement but only if you constantly get him speech physio and occupational therapy.
Do consult a genetic expert if not done already
Wishing your child good health.
Regards
Dr Arun

Above answer was peer-reviewed by : Dr. Pradeep Vitta
doctor
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Follow up: Dr. Arun (47 minutes later)
Thanks for your answer, but we want to know what the present reports say? We are planning for CMA but need clarity on all the tests being done till date. Some doctor suggested Fragile X PCR report is not 100 % Clear.

Also many doctors have termed my baby as Syndrome Child, that really bothers me as no body clearly says which syndrome, or what may happen in future, or as to how will be his adulthood.

When we see half of my child children walking freely or blabing words it really makes me wonder when will my child be able to do it. All the testing, all the followups increases my worries more, specially when doctors say Syndrome Child, but when we ask what they say wait and watch.

We know it is not normal the manner in which his development is delayed. Please suggest your inputs on Fragile X PCR and other reports, and what will happen in CMA, are there some more tests which might be required to diagnose exact problem?

Also some doctors told us, for next baby we need to be careful, as all these things might repeat and even get worse, Is it genetic problem???

Please guide us..
doctor
Answered by Dr. Arun (33 minutes later)
Brief Answer:
fragile x negative

Detailed Answer:
Fragile x is negative.
I would say CMA will help in identifying the cause.
The problem with the term syndrome is that many children do not fit into typical ones. Some syndromes take upto 6 years to show all features.
I understand your situation.
This could be a genetic problem, get CMA done.
Then you can meet a genetic expert
Genetic expert will identify specific features and specific gene tests.
Regards

Above answer was peer-reviewed by : Dr. Prasad
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Dr. Arun

Pediatrician, Pulmonology

Practicing since :2003

Answered : 1898 Questions

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What causes global development delay in infant?

Brief Answer: Go ahead and get CMA test done Detailed Answer: Hi Thanks for writing to us. I have read your history and have seen the attached pictures. CMA is recommended as the first XXXXXXX diagnostic test in the evaluation of all children with global developmental delay. Many times it is difficult to identify the exact cause of global development delay which is when we label it as cryptogenic. But don't lose hope. Go ahead and get CMA done. It may help in arrive at diagnosis. Continue speech and physiotherapy. It may take many years to see improvement but only if you constantly get him speech physio and occupational therapy. Do consult a genetic expert if not done already Wishing your child good health. Regards Dr Arun