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Does anyone have experience with Angelman or Rhetts?
I've questioned the autism Dx--or at least Autism only Dx. I asked about Angelman discovered the genetic testing had never been done......but that the doctor suspects Rhetts.
Any experience with either?
Rhett's is strictly gender specific....girls, usually the most common sign is a wringing of one hand, at one point thought to be degenerative now in limbo and thought to just plataeu in abilities. Usually there are motor difficulties (gross motor) and can suffer from seizures...
Only dealt with one Angelman's syndrome person and that was years before so can't think specifically about that, but am working with a girl that has Rhett's syndrome so familiar with that.
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Angelman is also genetic....my suspicion is that he is Angelman-ID mosaic...basically an imprint defect in the mosaic form.
The doctor believes it may be Rhetts because he pants (it is less common in boys.)
I'm not seeing as much regression I would expect with Rhett's. Do you see a lot of progress? He's gone from somewhere around the 9-17 month level to about a 2-3 year level.
It seems more like Angelman just because he has difficultywith internal tempurature control---and water fascination, crinkle pattern/paper fascination and the palm up flapping. Do you see any of that with Rhetts?
The testing is going to take 2-3 months, by which time many of the decisions about the placement will have been made.
there are a few....boys with rhett's however, that is very rare.
D doesn't pant however, she has the traditional hand wringing (right hand), went to about a 1-2 year old level but regressed after her last seizure last year....
My bet would be to test for Angelman's but not rule out Rhetts....as I said and at a recent conference there were some cases of documented Rhetts in some boys, just not that many.
I assume that you're alluding to IEPs if you're talking about placement? or foster placement?, if you're talking about placement for school, after you get the testing done you are always within your right to call an IEP...if it's for a foster placement, I'd start the paperwork/process and keep the cw informed. Ok it's late and I'm not seeing the screen very well :arrow: so let me conclude this post right now :)
DannieAS
I assume that you're alluding to IEPs if you're talking about placement? or foster placement?, if you're talking about placement for school, after you get the testing done you are always within your right to call an IEP...if it's for a foster placement, I'd start the paperwork/process and keep the cw informed. Ok it's late and I'm not seeing the screen very well :arrow: so let me conclude this post right now :)
It was actually the foster placement. The goal is reunification. I'm a bit concerned though, because all of the "autism" training that has been given goes on about how autistic kids are normal to above average intelligence. In this instance that's just not the case. I'm very worried that family has been lead down the garden path of asbergers, then that's far from the reality (I think its a mix of denial and professionals not wanting scare them). The nuerologist even tried to skirt around the cognitive impairment with me, and when I said that yes, I know what it means she acted quite relieved. If its Rhetts.....I have to be honest, I can't even handle Rhetts, so I don't know that they can without a LOT of support (that hasn't been put into place.) Even with Angelman, there needs to be a lot more support put into place.
I'm also concerned because medical care wasn't provided before removal. With either Rhett's or Angelman (or any of the imprint defects), the physical care is so important.
Autism isn't characterized by normal or above average intelligence, many autistic kids I worked with were below average intelligence or profoundly retarded.
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tusu
Autism isn't characterized by normal or above average intelligence, many autistic kids I worked with were below average intelligence or profoundly retarded.
That's very true. However, it is characteristic of both Rhetts and Angelman.
My little brother had the diagnosis of Angelman, however he passed away 20 years ago and they were still learning about it. He was mostly mute (could only say mama), very happy, delayed, had siezures, lots of food allergies.