Negative Fragile X and autistic results. Undiagnosed 3 year old HELP!!!

Claudia - posted on 10/07/2009 ( 5 moms have responded )

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Hi, my son is 3 years and 2 months and is non-verbal. He is delayed in all areas, he didnt walk until he was 2 sit up till he was a year and is currently playing with 18 month toys. He is a very happy little boy, even though he does not talk, and does not understand anything that is being asked of him, e.g. he can't follow direction or instruction. If he wants somethng he takes my hand to what it is that he wants. He has no imagination and likes being on his own, he finds lots of children stressful and curls up on the floor. His attention span and concentraion levels are short and he flits from activity to activity, but if its something he's interested in e.g. Cars and anything moving he can sit and play with it for hours. He has flat feet, a stigmatism, and his EEG recently showed epilepsy. The results stated that his brain is in "slow sleep mode" whilst he is awake, with very high peaks every now and again. He also has Lipids which is very uncommon (1 in 10,000) chidren, which is when the enzyme that breaks down chloestral breaks, meaning his blood is full of fatty substances, which is currenty being sorted out and he will be on medication for the rest of his life for this. I was told by the paeditrician it was almost certainly Fragile X syndrome, but this result has come back negative. I am finiding it very difficult to not have a diagnose and am stuck with how to deal with him and his behaviour. He has 1:1 at Pre-school which doesn't seem to be doing that much good, i can't leave the room because he cries, and even the teachers struggle with him. He has been going for 6 weeks. I have no idea what could be wrong, with him, no matter how much i show him things he does not take anything in. The speech therapy lists are so long and he has not even been seen yet, and that also goes for his hearing. I am struggling to restrain him now as he is getting so heavy when he has tantrums i get hit and kicked. I would be grateful for any advice on how to improve his speech, and managing his behaviour and also any ideas on what his learning difficulty could be.

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Jennifer - posted on 10/07/2009

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i agree go to a genetic specialist i too have a son somewhat different problems but it wasn't till i went to a genetic dr that i began to get answers i was just told he had developementla delays hearing problems(he is severly hearing impaired) and possibly has terrets syndrome all of which the dr told me were unrelated it took me 6 yrs just to get his hearing problem diagnosed they kept telling me he had selective hearing now he has hearing aids in both ears just this last month i finally got my way and got him in to a genetic specialist i had a feeling that maybe just maybe all of his problems were related and so far they have found he has a defect with chromosome 18 going fri for more specific testing to find out just which disorder he has i don't think he sounds like he has this disorder but a genetic dr might have some answeres or at least an idea of where to go next i took my son to a childrens hospital even though it is 3 hrs from home to ensure i got the best dr i could get i got tired of banging my head on the wall with all the drs and local specialists around home to their credit they don't see many of these cases so they aren't likely to think about them hope everything works out and you get some answeres

Ann Marie - posted on 10/07/2009

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First, I hope you have a good support system which allows you some alone time.

Now for your child: Considering the epilepsy, slow sleep and the enzyme condition, you need to have him seen by two specialists before your pediatrician puts you through more tests. A pediatric neurologist: a neuroscan and an MRI may unlock a lot of treatments an EEG completely misses. Immediately following that appointment, see a pediatric endocrinologist. If you cannot locate one, call the MAGIC Foundation. You can find them in my boxes on my profile (it is public so anyone can see it). This will be who can tell you the absolute most about the enzyme disorder without taking classes or studying the Internet to find out for what to test. Pediatricians are not trained to do this kind of work.

I have three autistic children, and he does show ASD symptoms which are not typical of Fragile X. If you did not have it done, have a complete gene mapping. Greenwood Genetics is studying long term the genomes of thousands of children who are showing ASD, Fragile X, PTEN and other disorders even after they test negative.

The separation anxiety is best treated cold turkey, but leave him with a wash cloth or handkerchief with your perfume on it. Tell him to hold on to it for you until you come back. Come back when you say you will. This will pass. Give preschool more time. 6 weeks is relatively short for him to begin developing social skills.

Improve his speech by talking to him ALL THE TIME. Narrate everything you do. If you are washing dishes, explain the steps, put him on a stool and let him watch and help with the silver. Narrate the bath, diaper changes, getting dressed. Narrate the drive to preschool. Read books to him, even if he will not sit in your lap to do it. Read one book everyday for a week. Read a second book just for variety.

Use ONE phrase for praise. This will likely be the first thing he repeats to you. Talk to him as though he were 15 and not disabled at all. His receptive speech is higher than you think. He understood things when he was a baby the same way you understood the difference between the cries "I'm wet" and "I'm hungry".

Label things in your house to help him communicate. Label cabinets with his dishes with cup and plate. Keep snacks in low cabinets so he can point to foods he desires. Label the refrigerator with milk and juice and yogurt. This will help him get his choice in making his desires known. Label his toy bins, the bottom of his trucks & cars, his baby, animals, everything. Play with one toy everyday each week. This will hasten his speech and recognition of the word, receptively and written.

Non-verbal children can begin to communicate by keyboard once they learn to read.

Tantrums are just his being frustrated in not being understood. It could also stem from his enzyme disorder, which can be painful. Unless he is in a position to hurt himself, do not restrain him. This could hurt you both. Talk to him. Keep talking in a comforting, loving tone of voice. If he likes your singing, sing. (I cannot sing a note.) Remove him to a safe area you have created for meltdowns. Large floor pillows and stuffed animals. Let the meltdown pass. By trying to restrain him, you are telling him not only can he not communicate with you, but his last ditch effort to get you to understand will get him punished. You really are not meaning to send that message because you love him and want to genuinely understand why it happened.

If the tantrums last more than 10 mins or occur more than 3X per day, ask the pediatric neurologist to refer you to a pediatric psychiatrist for advice on the behavior, as an SSRI may very well curb the tantrums. The one drawback is the added energy boost, which could take some getting used to on your part.

Has he been to a speech pathologist? Enrolling him in speech therapy (waiting list) is OK, but you need a pathologist to assess the depth of his speech delay and set up recommendations for the therapist to follow. This will eliminate a waste of more than a month with the therapist. Instead, the therapist can get immediately to work.

I know I gave you a ton of places to look for an answer. Feel free to contact me further if you need more information.

Kathy - posted on 10/07/2009

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have you had a genetic test done? he sounds similiar to my son at that age- (except the tantrums-(those came later :) ) but every child is different. My son was tested for fragile x and angelmans both neg. turned out he has partial trisomy 16 its rare- so not likely- but this occured spontaneously. Check in with UNIQUE a support group for rare disorders- there may be someone in that group that can help. Its a rough road- but your not alone (even when is seems like you are.) My son used to have horrible seperation anxiety in prschool I would sit with him, and gradually slip back ( against the wall) and soon he'd get caught up in somethng, and I would scootch toward the door, he'd check to see if I was there, etc. after aobut 15 minutes I was able to sneak out, and soon it was quicker and quicker till I didn'th hve to do it any more. You are your childs "safe zone" and he's not sure how to input everything that's comming in- the only sure thing he knows is mom = safe. patience, hugs, research and listening to my instincts is how I got through the early years. My son is 15 now and can finally talk but it took awhile. And at first he could only grunt and point= but if he can lad youto things then he can start with the pictures, sign, etc. Hang in there!

Mary - posted on 10/07/2009

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it sounds like you are going through a very tough time. One thing I would suggest would be to try the diet used for autism (even though he doesn't appear to have autism). My son was diagnosed borderline autistic, and they said to take him back 6 months later because they weren't sure of the diagnsis. At the time other than crying he was completely non-verbal. His OT (he was going because of Down syndrome) recommended trying the autism diet of gluten free casein free foods to see what happens and within 6 weeks he started 'talking'. His language isn't clear, but to this day he is a chatterbox unless he has something with casein or gluten in, and then we have silence for aanything from 1 day to a week (depending on the quantity) and violent aggressive behaviour. It turns out he can't digest the proteins properly, and apparently it is a problem for many kids.

Good luck to you, I hope you get some aswers soon.
Mary

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If his brain is in "slow sleep mode" hes not going to be able to take anything in that you try to teach him. You may have to deal with the epilepsy first and find a way to "wake up" his brain so to speak so what I would suggest is to get in to a specialist for it and see what can be done.



One big thing to do is to write down all his symptoms (if you type up the list you can then just print it off everytime you go to a new specialist) that way you have a running list to take in so you dont have to think of everything.





As for speech since he is able to physically able to lead you to what he needs I would suggest some sign language, it wont be a huge breakthough thing but it might be able to help both of you communicate with each other. You could even print off some pictures of things that he can just point to in order to communicate better.



If you need to restrain him I found the best position is sitting on the floor behind the child, wrap your arms around his with an X style hold (your left arm holds his his left) then either tuck your legs either behind or underneath you so he cant kick unless you feel comfortable enough to cross your legs over his. While you are holding him talk to him in a very quiet calm manner (as if you are talking to a person dealing with a panic attack) stuff like "its time to relax now" "once we are calm we can let go" "almost done" and "breathe slowly"



relax and tighten your body as he is doing it, most times you should be able to feel any tension he is holding while he is going through this. You dont want to apply tight pressure the whole time since it will give him the wrong impression, you will need to go through it with him so to speak.





From the sounds of it he may have more than one issue so instead of worrying about one diagnosis try looking for several that may be linked together, just be causious of too many diagnosis. there are many things out there that either have wide requirements or the symptoms can fit into more than one box.





i wish I could help you more, but I mostly just research this stuff (and live it from time to time)

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