Replies to This Discussion

Permalink Reply by Wyatt's Mommy, Melissa on September 30, 2009 at 12:34pm

Emily,
Hi how are you today. I have heard that there is a connection between DMD and the Autism Spectrum. (In my experience I think that they can be related just because of they are both neuro disorders) Our son Wyatt who has DMD is only 19 months so I can't say at this point if he would be on the Autism Spectrum or not. But our 13 year old has Asperger's Syndrom (AS) which is an Autism Spectrum disorder. Our 13 year old, Anthony, struggles with social issues all the time. The best way to discribe it is, Anthony doesn't have the internal on and off switch. There is not gray, it's all black and white. He tells you exactly how he feels, he doesn't have the ability to self-regulate his speech and actions. DMD and AS can have similar gross motor and fine motor delays, however they are very different. AS has it own set of medical issues than can come along with it. Like I said, this is my own experience, but I have come across another mom on this site who's son has AS and DMD, I can pass along your name to her if you would like? Anthony doesn't have DMD.

I hope you have a nice day.

Melissa

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Permalink Reply by Ofelia Marin on September 30, 2009 at 6:41pm

Hi Emily, What symptoms do you see leading you to believe that Beau is on autism spectrum?

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Permalink Reply by Evan's Mom on September 30, 2009 at 9:56pm

Our son Evan was tested for Autism at age 4.5 a few months after he was diagnosed with DMD. He had speech delays at age 3 and limited eye contact with family members. The report came back saying he had moderate Autism and he was put in a specialized program using ABA for 10 months before he started Kindergarten (we live Canada). The program was really good at preparing him for school and now he has had a teaching assistant in his K and grade one class. He has always been very affectionate and pretty easygoing and he communicates verbally quite well now (after many speech therapy sessions). He is immature for his age and doesn't get the socializing with kids his age part yet. There are some publications that talk about how DMD affects the brain and how information is processed; not necessarily Autism, but with similar symptoms. So any extra help your son would get is if he is diagnosed with Autism will benefit him even if he only qualifies under some of the categories. I don't know if this helps, but feel free to contact me if you have any questions.

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Permalink Reply by MicahsDaddy on October 1, 2009 at 1:07am

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.

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Permalink Reply by Karen Barnett on October 1, 2009 at 1:13am

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.

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Permalink Reply by Emily on October 2, 2009 at 10:30pm

Well, he seems to be very ADHD because of his inability to focus. We have been thinking that is what it was, but I have a psychologist friend who took a look at him and saw some "spectrum-like" behaviors. He asks a lot of questions and does not have very lengthy conversations. If he does have autism it will most likely be mild and fall somewhere on the spectrum (pdd-nos).

Ofelia Marin said:

Hi Emily, What symptoms do you see leading you to believe that Beau is on autism spectrum?

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Permalink Reply by Emily on October 2, 2009 at 10:36pm

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.

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Permalink Reply by Wyatt's Mommy, Melissa on October 2, 2009 at 11:10pm

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.

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Permalink Reply by Emily on October 3, 2009 at 4:30pm

Well, we were not thinking autism, we have really been thinking ADHD and learning disabilities. He is going to be tested with the school system (for the second time within a year..he didn't qualify last spring) for this because he cannot focus and is way behind academically. (he has been on steroids for the last 6 months where that has intensified everything) I just happened to talk to a psychologist friend who specializes in autism and she felt like based on what I told her about Beau, she felt like he needed to be tested more extensively by her on another psycologist. She then got to meet Beau and noticed some spectrum-like behavior, like the constant question asking (which is spectrum behavior, not ADHD) versus having typical 4 1/2 year old conversations. She said he did seem to be in that blurry area to where she is still not sure what the outcome will be. She wants to meet with him one more time before testing him just to make sure she feels that that is what we need to do. We are just very much in the dark right now, although we are preparing ourselves for him to be on the autistic spectrum. Bottom-line.. he is struggling regardless of whatever he has.

Wyatt's Mommy, Melissa said:

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.

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Permalink Reply by Julie Gilmore on October 4, 2009 at 7:56am

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.

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Permalink Reply by J's mom on October 4, 2009 at 8:50pm

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.

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Permalink Reply by Julie Gilmore on October 4, 2009 at 9:45pm

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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