Amanda Isabella's Abnormal Movement Disorder 4

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

[rballeto]

Update 6/12/10: Spinal tap also came out normal. Waiting for genetic test results. Episodes continue to progress. Starting to do something just a little different, will have to try and catch it on video. Still no diagnosis.

[monjanse]

has she epilepsy?

[rballeto]

@monjanse  Her EEG's have shown no signs of epilepsy. However, her geneticist tells me that he has seen cases where the EEG's are clean and yet the patient IS having seizures. :( We are at a loss. Thanks for your post!

[lucieann21]

Bless the little angel... she's so beautiful. I pray for a diagnosis for you and that it all works out in the end for the very best @>-->--

[rballeto]

@lucieann21 Thank you so much for your kind words. To date we have not gotten a diagnosis for her condition. We are now waiting for her genetics test results to come in. All other tests have come back normal. Just taking it one day at a time. Thanks for your post!

[rballeto]

Oblivous to me. Just staring into space, though I've deleted a lot of the staring because it was making the video too long. Abnormal hand movements. A little tongue action, though still not the chewing or tongue-in-cheek I've been seeing her do lately. Scratching away at her eczema. Small head jerk towards the end. This is 1 in the cluster of episodes.

[anglros13]

@anglros13 us right in for a EEG and study throughout the dayand night and they said they were gonna keep us there until i felt he had the same things he did at home, and sure enough they got good video and all that of him actually having seizures so i wasnt stupid after all like they made it seem...u are doing everything right so keep it up and just be strong....keep going till u get answers, at least one doc will understand and do their job

[anglros13]

@anglros13 having staring spells as well during the day....he would stop breathing at night too and not be alert at all....so i have been going thru gillette childrens and i seen the sleep specialist first and they sent him for an eeg and sleep study...the doc stated that he was actually losing 3 to 4 breaths at a time more then 25 times a night and that is alot for a child his age but i was not to worry at all and he is fine...i decided i wanted to go to the neurologist myself and they sent

[anglros13]

just do not give up and do not take no for an answer...my son is 4 and he has been going thru alot of seizure like activity since he was little and he also has had speech and motor skills delays and every time i would go to his pediatrition they would say he was fine and not to worry and so at first he was 2 and i figured they were right and he was only two so give it time...then3 came and i said enough is enough, by this pt he was making weird movements in his sleep more frequent and also

[MegaApples2apples]

i feel bad 4 her..

~GOD BLESS THE CHILD~

[carrielope]

Ok. So I am back. MyI am changing to have this seperate. So Kaitlyn's EEG came back Abnormal but we took her to Childrens in Los Angeles and they laughed at the videos and told me she was infantlie masterbastion or it could be dystonia. It really Irratated me. She stiffens up and can not be moved. And then i was asked if I ever put her in the corner. What??? I could not believe this either. So I am suppose to get a VEEG done and hope she has a bad day and has an episode.

[aschwer79]

Perhaps a mild form of dystonia? Poor little sweetie, I hope they are not painful for her.