Special Needs
preggersINschool25
member
Autism
preggersINschool25
member
I know the spectrum is wide, but I was surprised when the neurologist suggested Autism for my little one.
He is 20 months and just recently learned to roll. So, no crawling, getting to sitting, pull to stand, steps when supported, etc. He has this weird thing with his hands being touched so probably something sensory going on. He was fisted for the first year of life and still is to some extent. We have had pretty much every test done except for a muscle biopsy (MRI, microarray, exome sequencing, numerous blood tests, urine tests, spinal tap, etc). We know he has less white matter in his brain than NT kids his age, he has a duplication on 5p, refuses to eat so he is g tube fed.
We were told that the duplication is likely nothing. We were told by a few doctors that they suspected mitochondrial disease. We met with a new neurologist who specializes in Mito and he didn't seem to think that is what is what's going on. He kept throwing Autism out there. Our developmental pediatrician didn't seem to think it was autism...
So, my question.. my son is very social making good eye contact, smiling, laughs mostly when being touched but will laugh at visual things like a ball bouncing. He has red flags for autism like he loves to bounce and not too keen on cuddling. He has no words either. I think he is intellectually disabled to some extent because he seem very aware of much. Kids with down syndrome his age seem more aware and alert than him.
Does that sound like he falls on the spectrum? I am not aware of autism having such a physical impact on a kiddo.
He is 20 months and just recently learned to roll. So, no crawling, getting to sitting, pull to stand, steps when supported, etc. He has this weird thing with his hands being touched so probably something sensory going on. He was fisted for the first year of life and still is to some extent. We have had pretty much every test done except for a muscle biopsy (MRI, microarray, exome sequencing, numerous blood tests, urine tests, spinal tap, etc). We know he has less white matter in his brain than NT kids his age, he has a duplication on 5p, refuses to eat so he is g tube fed.
We were told that the duplication is likely nothing. We were told by a few doctors that they suspected mitochondrial disease. We met with a new neurologist who specializes in Mito and he didn't seem to think that is what is what's going on. He kept throwing Autism out there. Our developmental pediatrician didn't seem to think it was autism...
So, my question.. my son is very social making good eye contact, smiling, laughs mostly when being touched but will laugh at visual things like a ball bouncing. He has red flags for autism like he loves to bounce and not too keen on cuddling. He has no words either. I think he is intellectually disabled to some extent because he seem very aware of much. Kids with down syndrome his age seem more aware and alert than him.
Does that sound like he falls on the spectrum? I am not aware of autism having such a physical impact on a kiddo.
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Re: Autism
The physical symptoms you describe remind me of DS2 who has CP. You stated he had less white matter in his brain. Did the neuro tell you what area of the brain where it was less or is it an overall thing. What did the neuro say about the MRI?
I do not know enough about ASD to make any judgements on if it sounds like it or not, but it could be that you are dealing with a couple of different diagnosis that affect each other.
DD1, 1/5/2008 ~~~ DD2, 3/17/2010
Have you had both hearing and vision tested? Passing the hearing screening at birth does not count. A Functional Vision Assessment, which can be done by your local school for the blind, can tease out a CVI diagnosis. It is not like an acuity test where the child looks at a screen. It uses little tasks that need vision to complete. The tester will also observe your child playing or moving around. They will look for any visual compensations your child may be doing, such as tilting or leaning their head, which can be really subtle to people w/o a visual impairment.
Damn that was long! I hope you can find some answers.
He had his hearing checked but could not perform properly for the test, so he had to be hooked up to a bunch of wires and tested while asleep.
His vision was checked by an ophthalmologist at a good Childrens hospital. I'm not sure how they really could tell other than checking the parts of his eyes were intact. If there was a problem processing it due to his brain, I doubt they could have found it.
He is so limited in so many areas I don't know how anyone could tell anything by watching him 'play'. He mainly just plays with his hands and puts them in his mouth. Literally that is his only movement and he could do it for hours.
Hopefully this isn't taken the wrong way, but just wanted to clarify CP a touch more. While CP may be caused by brain damage, it (brain damage) will not always show up in a MRI. CP affects body movement, muscle control, muscle coordination, muscle tone, reflex, posture and balance. It can also impact fine motor skills, gross motor skills and oral motor functioning. A lot of people with CP also have vision and hearing issues.
I am guessing if your neuro thought it was this he would have told you so, although some neuros won't diagnose it until a later date. It is hard not having a definitive diagnosis (and hard to get one too!). It sounds like you are doing as much as you can for him. I hope you get some answers soon and keep up the good work you are doing!