any ideas? asking for a friend (for real)

[ktgrok]

My friend has a 4 yr old who is super bright - like I'm sure he will test well into the gifted range if when they do testing. He was an early talker, and has an understanding of topics well beyond his age. He's just very wise for his age, if that makes sense. But he also has HUGE meltdowns, where he rages and hits others, hurts himself, yells scary things about how his mom should hurt him because he's bad, has major sensory issues that are getting worse not better - especially related to noise/sound. He will cry about loud noises, need to wear headphones, etc. He also on the physical end was sick with respiratory infections over and over again, nearly constantly for years. They did some testing and he didn't respond to his pneumococcal vaccine properly and had it repeated, (I think it did work then), otherwise immune panel was fairly normal but the amount of time he was sick (high fever, stuffy nose, cough that kept him awake, sometimes vomiting from it) was completely abnormal. He also has low muscle tone in his pelvis and is getting physical therapy for his hips/pelvic muscles/legs. 

She's an amazing mom, has read The Explosive Child, and has really worked with him to help him learn techniques to calm himself, etc. But I can't help but wondering if there is some underlying issue. I mentioned for her to consider a geneticist as tome point in the future, etc. Right now she's working with a non profit to get some testing done. They came out and looked for developmental delays yesterday and will arrange for testing for ASD soon. But figured I'd pick the brain of the people here for her. 

[Lawyer&Mom]

Is he double jointed?  The low muscle tone, poor health and sensory issues could be Ehlers-Danlos?  I think anyone who is considering ASD should also take a peek at the EDS symptoms because so many people have both. 

https://www.ehlers-danlos.com/what-is-eds/

[kbutton]

For reference because I'm going to refer to experience with both my kids...older one is 2e with ASD (including sensory and language issues) and ADHD. Younger one is 2e with a boatload of stuff--connective tissue disorder, dyslexia, auditory processing issues, ADHD, coordination and speech issues, etc. He is my "wise beyond his years one" though age 11 is proving to challenge that profile!!!

Low tone also screams potential connective tissue disorder to me as well. However, there is an interaction between the brain and the muscles that I don't know much about that can seem like low tone but is really about reflex integration--my one kiddo (who has a connective tissue disorder), had a lot of things attributed to low tone improve with integrating his Moro reflexes while doing vision therapy. Unfortunately, with a connective tissue disorder, reflex integration might always be a little whacky. He is also somewhat low tone, but not as much as everyone thought--the reflex thing seems to be a very big piece of this.

His sensory stuff sounds pretty extreme. I suspect the big meltdowns that involve asking to be punished are so that he can get both feelings and sensory needs met. When he was little, my kiddo with ASD would act out so that he'd be punished and get that all over with. 

It sounds like gifted intensity is playing a big part too. 

Getting testing from someone with a lot of 2e experience would be a good place to start, as would PT/OT evaluations for reflexes, sensory. It might be good to look for PT/OT people who have direct experience with people who have connective tissue disorders as it can be difficult (or a long wait) to get referred to a genetic clinic that evaluates for them. If there is a history of heart issues in the family, you might need cardiac genetics vs. connective tissue genetics as there is an overlap (i.e. Marfan, Loeys-Dietz, certain forms of Ehler's Danlos). The cardiac people will be able to diagnose more; the connective tissue geneticists will probably be more specialized, but this varies by hospital/practice. Calling the clinics to get the lowdown on what kind of referral is necessary (sometimes none is) and what they can look at can help narrow down possibilities. We got on a waiting list for one clinic and then found out that we should've been looking at a different one--the second option was the cardiac clinic, and they had a very, very short waiting time. 

Noise/sound sounds like auditory processing issues, but it could be reflexes or sensory in general. My ASD kiddo would be on high alert in noisy environments but has zero issues with auditory processing. He would go into fight or flight if he was touched from behind, and he would literally not remember what happened afterwards. In a noisy environment, it was 10x worse. OT fixed that totally. My APD kid, on the other hand, had less auditory sensitivity when was little and tons now that his brain is more "connected." It's like his brain was so disconnected from his little body that he couldn't have auditory overwhelm. But, I think his presentation is weird and not standard.

One of the frustrating thing about reflexes is that they don't always appear the same for each child. For instance, I am nearly positive that my older son's reflexes were not completely integrated, but he didn't really seem to test that way. I guess Moro is one reflex that can cause fight or flight issues, and is a lynchpin for all kinds of things (like visual motor stuff, and both my kids needed VT for that). However, my younger kiddo that had frank, obvious, serious Moro issues had completely different problems than my son with fight or flight. So, sometimes reflexes need to be tested and worked on in more than one way.

 

 

[Pawz4me]

He sounds a lot like DS20, except that DS outgrew the worst of the meltdowns by three, and he never said anything that indicated he thought he was bad or that we (or anyone) should hurt him. Everything else, including the low muscle tone, is a spot-on description of him at that age. DS's illness was a one-time bout with bronchiolitis when he was four months old that triggered asthma that was a relatively constant issue for a few years until he outgrew it. DS is on the spectrum (ASD-1) and is gifted.