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My son with autism has developed new symptoms

My 7 year old son has been involved with early intervention services since before he was a year old.  He has always scored as severely or significantly delayed during testing and this has remained consistent.  He exhibits most of the common symptoms of autism (stimming-rocking, screeching, crying, lack of eye contact, not potty trained, good appetite, but chronic constipation).  He is a little on the small side but is a twin and that's to be expected.  His general health is good and he sleeps well.  Recently he failed an eye test at school.  This is the first time he has failed such a test and I took him in to be seen.   It was discovered that he has severe manifest latent nystagmus and that his vision in the left eye is very poor, however the nystagmus is so severe that he cannot see if one eye is covered.   He was actually sticking his fingers into his eye to try to steady it during the exam.  They doctor there explained that he wasn't comfortable treating this condition independently because he had little experience with it so he has scheduled a follow up in November with the senior ophthalmologist on staff.  

This is where it gets interesting.   My son has a paternal half brother who has a bicuspid aortic valve and mitochondrial disorder oxidative phosphorylation complex 1 and 4 that is both maternal and nuclear.  I have never had any testing done and unfortunately all of my childhood caregivers are dead but my full brother had to have several eye surgeries when he was young to correct severe vision issues, meaning it's possible that I also have hereditary issues.

My primary issue here is knowing what I want to make sure we rule out.  is there any diseases that mimic autism and also cause the nystagmus that I should request testing for.  Please help equip me with the information and knowledge to ask the right questions as we go down this path.
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973741 tn?1342342773
Hi.  Gosh, I feel for you.  Medical mysteries involving our kids is not fun.  I have a son with sensory integration disorder.  Lots of kids with autism also have this although my son wasn't diagnosed as autistic.  He meets the criteria for autism I take it but has these overlapping conditions? I think that I'd personally continue to have him evaluated and treated for the eye issue and the other one you are concerned about while still working diligently with intervention for autistic symptoms.  Here is a bit of a simplistic article on things that look like autism but aren't.  https://www.webmd.com/brain/autism/autism-similar-conditions#1  You can look into 22q11.2 deletion syndrome as suggested as that is something that mimic's autism and is genetic and the suggestion to look into lead poisoning is sound as well.  

What types of intervention do you do?  My son is now a teenager. He had a very difficult time early on.  We were told he'd never attend school without an aid.  He does.  He has straight A's in honor classes, participates in sports and band and has a few good friends.  Intervention was absolutely key.  Small steps.  And whatever he worked on in therapy, we reinforced all week at home.  I became his personal therapist and I also have a son a year younger than him that got to do all of the same things with him.  We made it into a lot of games and as fun as possible.  To this day, my son battles a lot of GI issues, processes slowly, and has social skills issues.  His fine motor is that of a 9 year old even though he is 15. But we emphasize the positives and overall, he is doing very well.  So, I highly recommend intervention, therapy, and focusing on the positives in life.  Let me know if you need to talk!
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We have been involved with Early Intervention services since he was 9 months old and after a two year battle with his school that involved two concurrent investigations by the office of Civil Rights that went in our favor.  It also resulted in the termination of some very unpleasant individuals and he is now flourishing under the new leadership.  He is still  significantly delayed and struggles with various behavioral issues, but his school work is improving and being able to spend time with his sister during the day has really boosted his confidence.  I would love to talk!  I have a hard time with alot of moms in the autism community or in any community.... with 7 kids and a business it's hard to be available to people like they need.
He does speech therapy, occupational therapy, and equine therapy.  At home we do a lot of lessons that we try to tie in with their curriculum at school, but I try to incorporate it into daily activities.  He rocks most of the time and makes very loud noises.  As long as he isn't hurting himself we don't stop him as it eases his anxiety.   He speaks very well, is good at reading and math, and is very observant.  He likes helping me do things and is generally a very good boy.
Well, you sound on top of it all to me!  Navigating intervention is very hard and 7 kids and a job?  Wowza!  I just have two kids and so it was easy to just have my other child do all the same activities or go along and entertain him while my other son did his work.  I really can not say enough good things about occupational therapy.  My son did OT for six straight years once or twice a week.  We took a break but went back this past summer for three months.  We never did equine therapy but have heard that it is amazing!  Does your son love that?  

I'm glad you prevailed when you had to fight the school for your son's rights.  I never  understand why it has to be that way.  Don't we all want what is best for a child?  yeesh.  I am gearing up for a potential difficult time this spring as the school is doing a three year review of my son which has the potential to take away accommodations.  It has been eluded to and I'm trying to get my ducks in a row before the meetings start.  It causes undue stress, really.  Plan administrators at schools should be there to work FOR kids, not against them.  

I agree on the stimming too.  For a while, when my son would spin or rock I would try to stop him.  Mostly because it made me so sad he had his developmental delay and I didn't understand it, I guess.  Eventually, I came to know that the stimming was soothing him.  Oh my gosh, I felt terrible for ever trying to stop him from doing that.  I'd take him to our Y close by and rent a racquetball court in the basement and bring music.  He'd spin the whole hour without anything to bump into after that.  We got a tire swing in the yard that would spin.  I'm all in favor of self soothing activities!  My son has vocal tics.  These are a bit hard.  He doesn't like that he has these. I think it becomes difficult when kids are older and more aware and self conscious.  I miss the younger years for that reason.  

Anyway, I'd love to chat any time.  :>)
1081992 tn?1389903637
And btw, there is also this, which may or may not be relevant:


Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome

"Nine of ∼30 genes involved in 22qDS have the potential of disrupting mitochondrial metabolism... Metabolite differences between 22qDS children and controls reflected a shift from oxidative phosphorylation to glycolysis..."
Helpful - 0
1081992 tn?1389903637
For nystagmus:


Ocular findings associated with chromosome 22q11.2 duplication.  


"Because of the high incidence of conditions that could affect visual development, we recommend that children with 22q11.2 duplication syndrome have a complete ophthalmological examination..."

In that study, 1 out of 19 had nystagmus, which happened to resolve spontaneously.


So that seems like it's worth a look, Rachanne.

There's also lead poisoning. Please let me know what you think, and also whatever might develop from these possibilities. Good luck.

Helpful - 0
it's interesting that you mention lead poisoning.  My granddaughter that lives with me full time just went to her one year check up and her hemoglobin came back at a 10.3   There was a lot of questioning about lead exposure and then the doctor said it wasn't a big deal and to take her in if it got any lower.  I'm still not sure how we are meant to check her hemoglobin at home, but she ethnically african american, middle eastern, and caucasian and her mother has had issues with anemia in the past, so I didn't dwell too much on it.  I was a little upset that they didn't schedule a follow up visit and I do plan to look into it.

My son's pediatrician seemed uninterested and unconcerned with this development...said if the second eye doctor gave a referral to let her know and she'd put it in.  I plan to contact the developmental pediatrician and the psychiatrist that gave him his official diagnosis to see if we can't get him in to see someone.  We had skipped the genetic testing when he was little because it seemed invasive and I don't think I had any real concept of what was going to happen later on.  He's child 5/7 and the first to have any significant and very noticeable delays.   In retrospect I can see that #4 exhibits red flags and both #6 (twin sister) and #7 have been involved with Early intervention and other services.
1081992 tn?1389903637
"is there any diseases that mimic autism and also cause the nystagmus that I should request testing for"


Some quotes from that page:

There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues.

The majority of these patients also have congenital heart defects

Gastrointestinal problems, including constipation, and GERD

Growth problems, sometimes associated with growth hormone deficiency

Developmental delays, including both language and motor skills delays

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