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Hi Emily, What symptoms do you see leading you to believe that Beau is on autism spectrum?
My son is slower. Has speech delays, social immaturity and learning disabilites. He also has OCD and extreme tactile sensitivies. Very riged in his thinking and has trouble controlling his emotions. He is not autistic but some of his behaviors are said to be like autism. I believe his brain is affected by the lack of dystrophin to the brain. His personality/charecteristics follow many that are outlined with the psychological profile of what is written about many DMD boys and what I have read from other parents.
Does your son ask a lot of questions? My son is constantly asking questions about everything. Did you have him evaluated to know he is not autistic? We are about to have our son evaluated by a psychologist at the price of $1700. Not cheap!!! We just feel like we have to do it to know how to treat him. Curious to see if you had to go through the evaluation process to find out he didn't have it. That is our fear that we will pay the money and be right back where we started.
Karen Barnett said:My son is slower. Has speech delays, social immaturity and learning disabilites. He also has OCD and extreme tactile sensitivies. Very riged in his thinking and has trouble controlling his emotions. He is not autistic but some of his behaviors are said to be like autism. I believe his brain is affected by the lack of dystrophin to the brain. His personality/charecteristics follow many that are outlined with the psychological profile of what is written about many DMD boys and what I have read from other parents.
When I had my son evaluated (he was older than your son) I had a psychologist you specialized in Autism and my insurance paid all but the co-pay. I don't know what your situation is, however, if you have insurance, you may be able to get it covered. Good Luck. In response to your question to Karen about asking questions. My son questions everything. Is very inquisitive. What brought you to think Autism in the first place? My son is extremely immature as well, he's 13 and cries sometimes like he's a toddler. Mature with adults, just not with his peers. Anthony has a difficult time focusing as well, gets side tracked easily, likes to be hugged closely when he's upset, it's very similar to ADHD in many ways, he can't look you in the eye. He's extremely mild however. Lack of social skills are his issues, he's at grade level or above in all school subjects. He is getting better and better everyday. He does get upset easily. Again, he doesn't have DMD, just Asperger's.
Emily said:Does your son ask a lot of questions? My son is constantly asking questions about everything. Did you have him evaluated to know he is not autistic? We are about to have our son evaluated by a psychologist at the price of $1700. Not cheap!!! We just feel like we have to do it to know how to treat him. Curious to see if you had to go through the evaluation process to find out he didn't have it. That is our fear that we will pay the money and be right back where we started.
Karen Barnett said:My son is slower. Has speech delays, social immaturity and learning disabilites. He also has OCD and extreme tactile sensitivies. Very riged in his thinking and has trouble controlling his emotions. He is not autistic but some of his behaviors are said to be like autism. I believe his brain is affected by the lack of dystrophin to the brain. His personality/charecteristics follow many that are outlined with the psychological profile of what is written about many DMD boys and what I have read from other parents.
Autism does happen in DMD. I read a paper a couple years ago that autism and DMD is more common with those who have deletions in the neighborhood of exons 45 to 52.
If you go to the PPMD web site, you can find some info on DMD and autism. Click Here
We found out our son was moderate to sever autistic when he was 3 1/2 and got him into school right away for early intervention, then received the DMD dx at 4 y/o. Micah is 8 now and is doing much better and considered mildly autistic.
Hi Julie,
I am very interested in what you said about the isoform of dystrophin. My son has a deletion of exons 45 through 52. Is it just exons 44 through 51 that have this, or could my son be affected by this too? Are the neurological problems you're referring to behavior related? We have always struggled with Jake's behavior, but have never had any formal testing. Thanks!
Emily
Julie Gilmore said:
There is an isoform of dystrophin - Dp140 that is shorter than the muscle form of dystrophin, and it is required for neurological function.... boys with mutations from exon 44 - exon 51 will not produce Dp140, as the promotor region is in intron 44 and the initiating codon is in exon 51........
There is oodles of research out there on the issue, but the restoration of Dp140 will not be as easy as the production of truncated Dp427 (muscle dystrophin).....
We have started a group on the forum for tactile sensitivities, however it covers the whole gamut of neurological issues associated with DMD, so please feel free to join!
MicahsDaddy said:Autism does happen in DMD. I read a paper a couple years ago that autism and DMD is more common with those who have deletions in the neighborhood of exons 45 to 52.
If you go to the PPMD web site, you can find some info on DMD and autism. Click Here
We found out our son was moderate to sever autistic when he was 3 1/2 and got him into school right away for early intervention, then received the DMD dx at 4 y/o. Micah is 8 now and is doing much better and considered mildly autistic.
Hi Emily, if your son has a deletion from 45 to 52 he will still produce no Dp140 if the current indications are correct, due to the fact he has an out of frame deletion, and loss of the initiation codon in exon 51..... the mutation shouldn't affect production of Dp116 or Dp71, but it will affect all 5 isoforms upstream from the mutation....
I have included an extract of a summary presented in 2006 on the neurological function and associated deficits, and will send Dr D'Angelo an email. If she agrees, I will post the full paper up under the Tactile Sensitivities discussion group :) for those that are unable to access it free of charge via Google.........
Extract of Dr Maria D'Angelo's paper titled "Cognitive impairment in the neuromuscular disorders"; Muscle Nerve 34: 16-33, 2006
"Rearrangements in the second part of the dsytrophin gene tend to be more commonly associated with cognitive impairment as well as loss of the Dp140........ Point mutations in the Dp71 coding region is one of the most frequent findings in retarded DMD patients.
The two dystrophic mutant mice are considered to be models of DMD: the mdx mouse is deficient in full-length dystrophin in both muscle and brain; and the mdx3cx mouse lacks all the dystrophin-gene products, including the C-terminal short products normally expressed in the brain (Dp71, Dp140). The deficiency of the full length dystrophin induces specific and moderate learning and memory deficits, characterised by slower procedural learning and impaired long-term consolidation in nonspatial learning tasks and deficits in the consolidation or expression of long-term recognition mermory, but no deficits in behavioral exploration of novel objects, in the encoding of a new experience, or in short-term memory of objects. Although mild impairment of procedural learning may be a common alteration in the mdx and mdx3cv mutants, the latter shows weaker learning impairments and no overt electrophysiological alteration. Therefore, the neurocognitive evaluations in these mouse models do not reflect what is observed in humans"
J's mom said:
Hi Julie,
I am very interested in what you said about the isoform of dystrophin. My son has a deletion of exons 45 through 52. Is it just exons 44 through 51 that have this, or could my son be affected by this too? Are the neurological problems you're referring to behavior related? We have always struggled with Jake's behavior, but have never had any formal testing. Thanks!
Emily
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