Cerebral Palsey? unknown genetic disoder?
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Hi, NOTE- I originally wrote 'Epilepsy' in this post instead of Cerebral Palsey, which led to some confusion with Emerald. I meant CP, not Epilepsy - I just mixed up the terms for some reason. I edited the original post with the correct term. Someone recently posted an article that linked to a article on Agelman's syndrome. The girls do not have Angelman's syndrome, as these kids are impaired to a higher degree than my daughters are. That said, this part fits them to a 'T': In early childhood, the mildly impaired child can have almost normal walking. There may be only mild toe-walking or an apparent prancing gait. This may be accompanied by a tendency to lean or lurch forward. The tendency to lean forward is accentuated during running and, in addition, the arms are held uplifted. For these children, balance and coordination does not appear to be a major problem. This is a perfect description of the girl's gait issues that I've written about many times in the past. This is the first time I've seen it described so accurately (usually, there are non-specific soft-signs for Asperger's and stuff - like "awkward gait"). Last visit to the Neuro, she intimated that their gait was merely 'immature' - said they ran in a 'half gaurd' gait - like a 3 year old, and that it would evolve. However, this Angelman's gait is really, really spot on (though, perhaps, it is merely describing a half gaurd gait and these kids just never pass through that stage?). They were given a genetics test (FISH?) and it came back negative for whatever that checks for. Also, how is CP diagnosed? I understand that CP runs on a spectrum, like everything else, and the girl's can get around just fine, but they clearly have an abnormal running gait and cannot move as fast or as smoothly as other children their age. It is their most noticable symptoms at this time - it stands out more than their language and social issues. Uncoordinated running gait is NOT part of the diagnosis of autism. What is going on here? FWIW - the girls can run better now than they could a year ago. Abigail is getting fairly quick and can run on rooty, rocky hiking trails without falling down. Evie is not nearly as quick and falls down a lot more. Her 'running' speed is like an adult's brisk walk. Despite their progress (especially Abbie's), though, their gait is still like described above - it's always been - they're just faster and steadier now, but the lurching, bending over, arms raised, etc - it's not improving. Someone recently wrote about the thought that autism is really a non-specific diagnosis that they give to kids who they can't figure out what's wrong with, basically. I've always thought that 'autism' probably includes kids with unknown genetic disroders (an Angelman's kid would certainly be given the DX today if the gentic basis of the disorder were not discovered in 1965, especially considering there is no over dysmorphism, from what I've read) as well as kids who are brain damaged as well as kids who are simply 'late bloomers' for whatever reason. Thoughts? emereld - the girls had a seizure at three, though it was rules febrile. Earily, they had it within hours of each other. This is the only obvious seizure they've had. I didn't know epilepsy was just seizures - I thought it was given to kids with coordination problems, my bad. I wonder what they'd tell parents of a kid who was clearly not autistic, but had similar gait issues? What would the DX be? Sometimes I wonder if, once dx'd with autism, the doctors tend to just attribute everything to the "autism" - whatever "autism" is. I should add that Mason has unusual gait too...it is somewhat noticeable when walking but very much so when running. Mason does have that lean forward when he walks. And when he runs his right arm is bent upward at the elbow and his hand just kind of dangles off of it. Mason has some damage on his basil ganglia and I was told that that is what causes him to have the unusual gait, specifically while running. But Mason has a lot of similiarities with the angelman syndrome too, but also had a lot of genetic testing done. So I just assume they would have found that. It must run very closely to autism though. I guess the question in my mind is, is that gait that's described in the Angelman's diagnosis immature or is it atypical? Do typical 2-3 year olds run with an Angelman's gait? I do see toddlers running around with their arms raised, and the girls arms are lower now than the were a year ago, their arm movements are still not in any way coordinated with their leg movement. BTW - they do not bend over all the time when they run - it's something that happens intermittently - it almost looks like a stumble, but they just bend at the waste and kind of lurch, and then go back up again after a few steps, but it happens frequently. I wonder if their seizures did this? They hit all of their gross motor milestones well within normal range and this gait didn't really stand out until this past year or so (they had their seizures about a year ago). Seizures can cause damage, right? I guess I'll just never know what happened. Have to deal with that. I don't think epilepsy has any ties to unusual coordination, but I could be wrong. All I know is that someone is dx'd with epilepsy after having a couple of seizures, usually not related to fevers, injuries etc. At least that's what our neuro said...after Mason's seizures moved from the specific area in his brain that had the damage to all over his brain, the neuro started using the term epilepsy with us, before that it was always a seizure disorder. Just out of curiousity, did the girls ever have an MRI done? Gosh - emerald, I just realized I wrote epilepsy when what I really meant was CP - I've got to go back and edit everything now - sorry!lol...no problem. I don't know much about cp. But I know the few kids I do know that have cp are all wheel chair bound...I'm not sure how wide of a spectrum it really is...good question though. And I too wonder if a child was only showing unusual gait symptoms, what would they dx that? Time to google. I notice that too...we will ask neuro questions here and there and it always seems when she doesn't have a specific answer for us she says, "that's related to the autism." I did find this http://www.nlm.nih.gov/medlineplus/ency/article/003199.htm but it doesn't seem to have the specific gait that we are describing. It really all is so confusing! I don't know Fred. My oldest used to run bent forward. It worried my mother. However, by 1st grade he outgrew it. ?????? I have an NT nephew who had an awkward gait. He also hand flapped as he awkwardly ran. He's now in 3rd grade. His gait seems fine and he stopped hand flapping.
I think many of the "signs and symptoms" of any neurologic disorder are really very similar. The Angelman's description was simply more detailed! OTOH, I have heard sometimes CP is subtle enough to be dx'd in elementary years ... just like ASDs! But Fred, your girls have no apraxia! [QUOTE=foxl]But Fred, your girls have no apraxia! [/QUOTE] Why do you say that? Apraxia can apparently affect differnet systems. Clearly, it doesn't affect their speach or their fine motor skills, but 'Apraxia of Gait' seems plausible. Oh, they also had a clean MRI, so no obvious brain damage that would cause this. Ack, my counsler would be very displased if she saw how I was churning right now! Time to go out for a hike (I'm taking some vacation days). Yeah was just reading that. I recal lthe videos of your girls and their speech is GREAT! Was thinking though, there are various types of CP ... spastic diplegia? Stop churning and hike, Fred! So much more fun!!! Hang in there -- as a fellow churner, I KNOW how it is!!! Enjoy your vacation days and stay off this board.
Thanks Linda - was doing good for a while. My counseler threatened meds, which made me resolve to stop obsessing and I was doing good - but yesterday's encounter with that precocious little girl (and, probably having this time off), seems to have set me off again (which is ironic, because after visiting Evie's kindergarten class on the playground a week ago, I actually felt better about things (see my post in updates and successes)! Fred, I don't know if this will help you in anyway, but I do the same thing...I seem to stress and obssess over and over with the bad, and seem to forget the good. Not forget I guess, but I seem to overlook because I'm too busy stressing all the bad. I've been trying really hard lately to keep myself in line, and when I'm acting this way, I've noticed I need to get away from the computer entirely. No matter how hard I try to do and look at other things I find myself looking at autism things and getting depressed. It can be so controlling! How does the jogging do for you? jogging was GREAT for me when I could ... I wish I could get back to it! Fred I can totally relate. Just read your post about the little girl. My trouble is, I ahve it within my family -- my 3.5 yr old wants to learn to read and write -- and that makes her seem SO GIFTED, to me ... but really, it is not. But ... what do I do if she passes up T? I too used to have anxiety attacks after finals, and now do on vacation -- it's like, decompression stress. Go out and enjoy your day! I wanted to add this to the mix. We have a neighbor a few doors down who has a son who was DX'd with CP at age 2. The mom of this child has always been supportive of us (my older son is friends with this child's older cousins). I was never really sure how she seemed so knowlegable, but chalked it up to her being a teacher. I recently found out about the CP DX and discussed it with her. It turns out that her child did not present much differently than mine. He had speech issues, social issues and physical issues all chalked up to neuro issues from CP. He recieved similar therapies. He, for all apearances appears to be pretty much NT, with the exception of the occassional potty accident and some slight behavior issues. He swims, rides his bike and is not wheelchair bound. He is 6. I am back to my old theory. We are all here due to neuro issuses. Wether they resulted from trauma at birth, MMR, genetics, enviormental issues or a combo of some or all. But I believe someday, the breakdown of the spectrum and its many causes will shock the most imformed of us all. Linda--I have those feelings about Mason and Jozlyn...they are only 19 months apart and in so many areas she has passed him up. Oh and sorry to get so off the original topic. Nikki (yes, I'm still here) - running is a great outlet for me. Counseling has helped, too - just realizing that the degree of my worries is not reality - but only my perception of reality, is helpful. I used to get so mad at the girl's mother because she really never worries - she just enjoys them and parents them. It used to tick me off. I think, now, her approach is actually better and one I'm trying to emulate. The worry should be there, in the back of the mind, doing it's job of making sure that we keep tabs on how the kids are doing, but when it gets to the point that the worry is actually impairing, it's a problem that needs to be addressed. My counseler, last session, wanted me to consider medication. I'm doing what I can to avoid that, and I've done well for about a week - this is more or less a replapse. I'm going to willfully take back control, though, and hit the road - I'll check in later, but I'm probably going to abstain from posting for a while! I do recommend counseling for anyone reading this who's going through similar difficulties - it has helped. Thanks Fred! And I relate to the spouse issues!! I have really been considering counceling...just haven't committed to it. I use the excuse that I'm too busy. Enjoy your run!! And back to the original topic....how do they dx CP? Is it a test type dx or is it like autism where they just look for specific things and go from there? I never realized it was such a wide spectrum. Yepper - last thing (and I'm off, really!) - I'm with you on your theory. The more I see, the more I think that many of these cases are nothing more mysterious than brain injury or unknown genetic disorder (like, Angelman's syndrome would be autism if the genetic origin were not discovered in the 60s or oxygen deprivation at birth can cause autism in that it can cause neurological injury) - what part of the brain takes the hit, and to what degree, determines the disability and the "mix" of symptoms, and the diagnosis, and the degree of impairment.http://www.cerebralpalsysource.com/Types_of_CP/mild_cp/index .html Emerald: Here is a link that I went to after speaking with my neighbor. It was rather interesting becasue oftentimes mild CP goes unnoticed until milestones in the toddler years are not reached. Sound familair? I would love to see a video of the girls running fred - if you can capture that. Ds has a slightly awkward gait - but now runs while pumping his arms (he didn't do that a year ago) and is FAST! I can't catch him - which is a problem!  Even my dh says that he runs fast and dh is a runner.Fred, when you brought up angelmans, I remeber seeing something about it in a magazine, and so many of the traits sounded like my son at that time(around a year ago) like the smilin, and a love/obsession with water. I cant remeber the others now, but at this time, I dont think he fits the criteria from what I can recall of it. He still does love the water, though. He is drawn to it like a dolphin!They used to call things like higher functioning autism and aspergers ad
adhd and tourettand... Minimal Brain Dysfunctions. When I first started reading upp on autism I thought -well that was the dark ages when they did not really know what was going on. But now I have come full circle and think, well that almost was more accurate that trying to differently label all these neurological problems that have more overlap than not. http://www.cerebralpalsysource.com/Types_of_CP/brachial_plex us/index.html Interesting site, Yepper ... and THIS (above link) is what T has! ... I never thought to look for it on a CP site as it is a peripheral nerve injury, not brain. And actually they have an ice page even more specific to Erb's palsy (hers). My nephew has CP caused by brain malformation... he was diagnosed at 15 months but MANY with CP aren't diagnosed until much later. One of my coworkers told us last week that she has CP... I've worked with her for 2 year and NEVER knew and if she hadn't told us we stil NEVER would have known. CP certainly is a "spectrum" in and of itself. I don't believe there is a specific test for it though... just a compilation of symtoms. I remember reading up on angelman's way back before my nephew was diagnosed with PMG. The similarities were striking. Its really a fascinating syndrome imo I too have often wondered if there was something else going on with my boys... something genetic or neurological beyond autism. Its hard not to find similarities with many things you read about but having one symptom doesn't equate having that illness/syndrome/disorder its all of them together that makes it that. The bottom line is regardless of the name the treatment would be the same... so treat the symptoms. If your daughters' gaits disturb you then treat with PT ;) Fred here is the information on CP and how they diagnosis it. My youngest was tested for this and Cystic Fibrosis originally because they didn't know what was wrong with him. http://www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_p alsy.htm One thing I might suggest looking at doing is having a pediatric orthopedist look at the girls if you are concerned about their gait. We took my son because he has always had problems walking or running. He has poor abdominal muscle control so he tends to hunch and he has a twisted tib/fib and femur which have caused one of his legs to turn in so his gait is off. It is always worth a shot to go see them because now I have someone I can refer to as how to help him walk better and what we can do when he is a little older if those bones don't straighten out. (Children's leg bones aren't something they will even work on until they are nine because the bones continue to grow until they are nine.) Sarah did toe walked and still runs very gawky drunk-like..the neurologist suggested soft CP signs when she was 3 and did the MRI to rule it out..she had delayed myelin and he proposed her toe walking and gait was due to that but not her lack of language? Not sure I will ever know for sure but she is getting better and more natural with her physical strengths and coordination..gymnastics is really helping her~ She is still the slowest of them all but she is keeping up with her peers and not lagging too far behind. |
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It was and is sooo hard to watch, probably part of my obsession. I feel like I need to analyze and figure out all the bad so I can fix it, so that this doesn't continue to happen. And then I forget to focus and enjoy all the progress and good. UGH!
