Amanda Isabella's Abnormal Movement Disorder 2

My 2.5 year old started having very mild and infrequent abnormal movements at about 8 months of age. Since about Sept 2009, they have progressed rapidly. She is now having clusters of episodes several times a day. They can last anywhere between 5 sec to 5 min.

She usually does not do this when she is standing/walking, only when sitting/lying down/at rest. Only twice have I noticed her doing this while standing, and that was only just recently. She also usually doesn't talk through her episodes, but again, she just recently did this as well. As far as walking is concerned I do not see any funny gaits. She is pigeon-toed, and flat-footed and will more often than not, walk on her tiptoes.

She doesn't have these episodes when hyper, excited or stressed. Though I do wonder if the episodes arent triggered by her hyperactivity. She doesn't do it if "startled". Lately she has also been crying a lot in her sleep and talking too. I do not sleep in the same room with her, so it is hard to say if she is doing this in her sleep. When she falls asleep she does twitch a lot, but I just dont know to what extent she is doing this during the night, and if that is contributing to her waking up and crying.

She isn't overly sociable with strangers; she usually just clams up and doesn't say a single word or makes a single sound (selective muteness). She rarely speaks when around her therapists as well, and she has been seeing most of them for over 2 years now.

Speech, even though slightly delayed at first, is pretty good; says many words, uses 2-3 word sentences.

She has had a 4 hr and a 48 hr EEG, which show no seizure disorder. All blood tests and urine tests appear normal. She has had 2 clean MRI's. Yet, she continues to have these episodes and they are progressing. She has also had an abdominal ultrasound to rule out neuroblastoma. And a strep antibodies test to rule out PANDAS. Everything is negative thus far. She is scheduled for a genetic test on 3/29/10.

She is being followed by:

Shriner's Hospital for Cerebral Palsy, Tibial torsion, Pigeon-toe, Clonus, etc.
Endocrinologist for Premature Thelarche / Precocious Puberty.
Gastroenterologist for GI / constipation issues; they say she has a slow digestive system, and they have had her on Miralax for about a year. I took her off of it in Feb 2010, just in case the Miralax could be contributing to her episodes. She is now on Ranitidine for Reflux.
ENT - Her first year, she used to get frequent ear infections and was on antibiotics a LOT. During this time, I rarely saw her disorder. But then she had tubes put in her ears 7/22/09. She stopped being on so many antibiotics then about Sept 2009 these episodes started progressing. I dont know if that has ANYTHING to do with it or not.
Allergist for her eczema/rashes.
Pediatric Neurologist for this movement disorder.
Nutritionist for Failure to Thrive.
Physical Therapy, Speech Therapy, and Occupational Therapy for all delays. (Her speech therapist is currently working on her oral aversion / texture feeding issues, as well as her immature suck and getting her to talk more.)

She was a 28 week old / 2.8 oz preemie and had pretty much all the delays that come from being premature. She did need to be resuscitated at birth (10/07). She did not get a blood transfusion while in the NICU. She was on a ventilator when she was first born. And she also had an IVH1 bleed on the right side of her brain. She did not leave the NICU until 12/07. She was on breast milk fortified by Neosure, then just on Neosure, and is currently on Pediasure.

I have uploaded several videos on youtube because it is so hard to get all her movements in just one of her episodes.

She does have staring spells while doing this. I used to be able to talk her out of it, but sometimes that does not work. She will look right through me and won't answer when I speak to her. Sometimes touching her helps, but again, other times she doesnt respond to that either.

I can see her episodes coming on because she will have this wide-eyed look in her eyes. I don't know if she is in pain or not; or if she is getting a warning or premonitory sensation, as she is too young to describe what she is experiencing. If she is sitting on me, I can feel them coming on because sometimes it starts with her back slowly arching and twisting. Sometimes I can tell by her eye blinking or her tongue movements.

Speaking of which, she is doing a lot more weird things with her mouth. She does this tongue-in-cheek thing. It's almost like her mouth is always full of something and she is chewing away at it. Her tongue is usually hanging out of her mouth a little. She has been drooling an awful lot lately. I haven't caught that on video very well yet, but I'm working on it.

As I mentioned before, she has started doing a lot of blinking just before her episodes. FINALLY got it on video! Please see video #3!

Category:

People & Blogs

Tags:

• abnormal movement disorder
• Myoclonus
• Athetosis
• Chorea
• Athetoid
• Dyskinesia
• CP
• Cerebral Palsy
• Autism
• Tourette Syndrome
• premature thelarche
• miralax
• PNKD
• PKD
• PED
• PHD
• paroxysmal
• nonkinesigenic
• dyskinesia

[lemonade4autism]

My oldest son has Autism. My children are 12, 10 , 7 and 4 I am going to tape it and post it soon. I am ashamed to say I thought it was just an odd quirk until the speech therapist said different and she was very concerned for her. They did not say exactly the doctor said we are going to see a specialist so I am waiting for the referal letter.

I heard EEG are not 100% proof either. So dont believe a false negative. Sometimes they have to get the reading durring an episode.

[rballeto]

@lemonade4autism Then came my little princess. VERY premature, but at first everything seemed to be going so well. She obviously had some physical disabilities to overcome, but she was certainly progressing. And then I started to notice these movements. Even before the movements started, Shriners Hospital told me she had Cerebral Palsy, so that alone made my stomach drop.

[rballeto]

@lemonade4autism You name it, it's been suspected or at least mentioned: cerebral palsy, chorea, athetosis, tourrettes, tics, stereotypies, dystonia, myoclonus, dyskinesia, athetoid dyskinesia, paroxysmal nonkinesigenic dyskinesia, etc, etc. Parkinson's has been ruled out, as well as Multiple Sclerosis, Huntington's, etc. She even had an ultrasound to rule out Neuroblastoma!

[rballeto]

@lemonade4autism She does have issues with tibial torsion and in-toeing, she also has eczema and minor issues with asthma, Premature Thelarche, constipation, etc. Out of curiosity ... has your little one ever been on Miralax?

I would love it if you could post videos. It's the best way to see the similarities. And it is VERY helpful for future doctors. They appreciate videos vs you "trying" to explain her movements. I just share my youtube link with her docs!

[lemonade4autism]

@rballeto Accually she has been on miralax. She has Eczema (severe) we had to see a dermatologist and she has Asthma and also she has Constipation

Yes we will. I accually am going to tape all the movements and bring the tape with me..lol..

[rballeto]

@lemonade4autism GRRRRR ..... I HATE that Miralax seems to be a common denominator in these kids. How long was she on it?

May I ask what state you live in? I am in SC, and Kim is in NC. Being the worry worts that we are, we do question medications and any environmental issues.

[ledaINM]

poor sweetie she's too young for this. have you checked w/a good neurologist.

i have PKC paroxysmal kinesigenic choreoathetosis with greater movement/spasms but it usualy starts at an early age. God forbid. But it might be something similar. it doesnt show in MRI or EEG... so the dr has to be very good. Anti ceisure drugs work wonders though. check it w/a good neurologist though

i live in Greece

[lemonade4autism]

They accually put her on it when she was about 6 mths. she has had trouble with Constipation since she was a baby and doctors just acted like it was nothing. She was on it for about 2 years. We are in California.

[rballeto]

@lemonade4autism My oldest is 19, he was premature and had his learning disabilities, and some other health issues, but he has overcome them as best as he could. My middle child is 6 years old, and he has also had some health issues. Started having seizures the second day of his life, and I was pretty certain that vaccines played a role in that. He also had issues with his chemicals being off. He suffers from OCD, ADHD, and PDDNOS (basically he is on the autism spectrum.)

[rballeto]

@lemonade4autism Sadly, now starts your roller coaster ride of tests, tests, tests ... and yet no answers. We've had EEG's, CT Scans, Ultrasounds, Genetics test, Blood work, Urine analysis, Spinal Tap ... you name it. And no one is any closer to figuring out what is wrong.