My 8.5 month old has been diagnosed with global development delay with autistic features.
Our son was tongue tied and had silent reflux (vomiting with every feed). We figured out that our DS has problems when he was around 5 months as he wasn't meeting his milestones, both gross and fine motor skills. He also used to avoid eye contact and wouldn't recognise me.
He doesn't sit on his own and hasn't rolled over yet.
Once we started to get the assessments, we got his eyesight checked and he has power of -4 and Doctor doubts condition of cortical visual impairment. He also has partial hearing loss in one ear.
All His blood results came normal except vitamin b12 which is extremely high at 1360 and ammonia at borderline of 60.
Doctors have been telling that high vitamin b12 is not a cause of concern. We got TSM done and organic Uric acid tests which came out normal. Only test pending is homocysteine and one of the doctors recently mentioned that the test need not be done as it's not much of use.
We have been advised to get his brain MRI and EEG ( to check if he has silent fits) done asap which has been scheduled for next week.
I am concerned about the MRI as he's too young for the test. At the same time I m worried what if we miss out on something which is treatable considering the fact that neurological development is maximum in first 2 years.
I ve been reading a lot on the internet and found that high vitamin b12 is an indication that it's not getting absorbed by the body which leads to high levels. But since his metabolic test tsm came normal, could it be a case of vitamin b12 anyhow? I would like to know if there's any other tests which needs to be done to figure out if vit b12 is in anyway a causing his developmental delay and other neuro problems. Is there a way vitmain b12 be brought under control?
We have been worried and are under a lot of stress. Any suggestions/ advice/ experience with similar situations would be really appreciated.
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Jaizee
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Hi Jaizee. I'm so sorry that you're having such a worrying time with your son.
I'm just wondering why you think your son is too young to have an MRI scan?
An MRI scan is one of the best diagnostic tools and has proven to be safe, even for small babies (sedation Is usually given to ensure that a child is kept still during the scan, so that the images are not distorted because of movement).
Any potential risk is usually related to the effect the strong magnets may have on any implants or devices that may be present in the body - and stringent screening for these take place before any scan is performed.
Here's a couple of links that explain more about the procedure and may reassure you about the planned scan:
About the raised B12 levels - can be caused by quite a wide range of blood disorders, liver disease etc. and your doctors will probably have screened for these as part of the initial routine health checks (as others have said).
It is possible (but quite rare) to have elevated vitamin B12 levels and still have vitamin B12 deficiency (its called 'functional B12 deficiency' and is to do with whether the cells in the body are using and processing B12 properly - if they're not, the B12 can build up in the blood and show as elevated levels in the serum B12 test. A good way to show if this is happening to to test levels of something called MMA (methylmelonic acid), which builds up if B12 is not being processed properly. It can be done via a blood test or a 24 hour urine collection. Homocysteine is also another recommended test - so not sure why your doctor claims that it’s not much good (levels in both tests can be raised by other medical,conditions too - but your doctors would also screen for these (or will have already done so).
Here's some information about functional B12 deficiency (some of it might sound a bit worrying so please don't worry - the worst cases are very very rare):
Thank you so much for the detailed reply and for sharing those links. I will have a read.
I have heard that MRI isn't recommended for kids below 2 years of age.
Moreover, I read that kids with underlying medical conditions are at greater risk for complications (such as developmental regressions) from procedures requiring anesthesia/ sedation. That's my worry.
I will discuss this info with my paediatrician and have those tests (MMA and Homocysteine) conducted.
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