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Comment by Karin Kattich on November 13, 2012 at 10:34am

My son has a deletion of exons 49 and 50.  He was diagnosed with Autism a couple of years prior to the DMD diagnosis, and some of the signs of DMD were thought to be a result of the Autism (toe walking, delayed gross motor skills).  He is currently 12 and is having a lot of emotional difficulties in adjusting to life in his wheelchair.  I am at a loss on how to explain everything to him in a way that doesn't send him into full blown meltdown mode, and how to help him through this very difficult time.  Do any of you have any past experiences to share or advice?

Comment by tracie on October 5, 2010 at 11:10am

Hi Karen, yes, Christopher was diagnosed with learning disabilites as well. He has difficulties in the area of math, writing, and short term memory. He is 21 now, but I remember the frustration when he had writing assignments due. He would just sit and sit and have a really hard time even getting started. He has always had an amazing vocabulary like your son. The DMD cognitive profile shows that many of our boys have difficulty with "working memory" but have excellent long term memory. Christopher always had an IEP in school that allowed him accomodations such as written instructions (he couldn't remember things that were said in class), extra time on tests and assignments, testing in a small, learning lab instead of the classroom,etc. He tried some regular college classes after he graduated, but found those to be very difficult for him. He is now taking classes at the college towards a certificate in Computer Aided Drafting....and he is doing really well and likes it! It's more of a hands-on type of learning. Life is sooooo much easier for him now as far as school goes! We switched him from public school to a Montessori school in the first grade and that was helpful because the method of learning there was also more hands-on and experiential. Unfortunately, there were no real options for high school other than religious or public, so we chose public. I volunteered and then worked in the ESE (Exceptional Student Education) department at the school during his freshman and sophomore years so that I could get to know the staff and establish a good rapport with them. That definitely helped us get through the tough times! I hope that you are able to get the support that your son needs in school. Hang in there...there is a light at the end of the tunnel!

Comment by Karen Barnett on October 4, 2010 at 11:56pm

I was just wondering if any of your son's with this combination of ADHD, OCD, Aspergers symptoms (well described) have learning disabilities? My son has an outstanding vocabulary and can talk about many many things but when it comes to reading and writing he is at the level of a kindergartner/1st grader still. This really throws people because of his vocabulary and his insights into things. The sensory issues are by far the hardest to deal with for me on a day to day basis with my son.

Comment by Mandy on October 4, 2010 at 6:32pm

Sorry my last sentence was not stated properly.
I also want to mention that I wish I had known about all this when my son was so much younger because I could have helped him alot more. I was so focused on the DMD diagnosis and didn't really think about looking into all the behavioral issues to see if they were related. I am pleased there is so much more awareness now.

Comment by Mandy on October 4, 2010 at 6:22pm

James, thanks for your reply and all of your points were interesting and informative. I agree 100 % that my son does not have a diagnosis of Aspergers as would another child without DMD. That being said he was diagnosed at Cincinnatti Childrens Hospital by a pediatric neurpsychologist and it certainly helped me to understand my son better. It is definitely a combination of the symptoms of Aspergers, ADHD and OCD and is so much more difficult for me to deal with on a day to day basis that the DMD diagnosis. I think most of the parents would agree with this. It is very important that we all understand that we must never assume our boys symptoms don't always mean a diagnosis of one thing or another.

Comment by Denise Gionet on October 2, 2010 at 12:30pm

Mandy,
My son has deletion of 45 - 48, and is diagnosed with Beckers and Aspergers. He also also diagnosed with sensory integration dysfunction long before the 2 other diagnoses by an OT who specializes in sensory issues - I have found not all OT and PT have an expertise in dealing with sensory issues specifically. A doctor we saw in the genetics department at Boston Children's Hospital told us they are doing research on possible genetics causes of Autism/Aspergers and have found some of their patients also have a deletion in that same area.So it appears there may a relationship - genetically speaking between Autism/Aspergers and MD. He indicated that a recent study of boys with Beckers found approximately 8% also had some form of autism. He felt that the deletion my son had was most likely the cause of is form of autism.

Comment by James Poysky on October 2, 2010 at 4:33am

I don't usually post on this forum, but I have some insomnia tonight so thought I'd add a brief comment. Keep in mind that SID/SPD are not "real" diagnoses in the classical sense. They are not in any diagnostic manual used by doctors or mental health providers (ICD or DSM). I am not saying this to suggest that the "symptoms" aren't real...they are, as anyone here can attest (including myself). The reason I bring this up is because you have to think about these symptoms in relation so the bigger picture. They are the result of an immature neurological system. Because of this, it is VERY rare to see sensory integration problems without something else going on also. The most common thing is ADHD, but it can also occur in OCD and Asperger's/Austistic disorder as well (although usually to a greater extent). In line with what has been posted below, if you have concerns regarding sensory integration problems, I would recommend that you get your child evaluated by a neuropsychologist. OT/PT's evaluate for sensory problems, but they are not trained/qualified to look for other things. To put it another way, when all you have is a hammer, everything looks like a nail. You really want to have someone take a broad look at everything that is going on...

Comment by Mandy on September 30, 2010 at 7:42pm

Hmmm very interesting, my son Alex also has a deletion of exon 45 and has Aspergers Syndrome. He has all the typical symptoms and was only diagnosed because I recognized the similarities of symptoms from a character in a book I was reading. I will have to make a point of watching "Parenthood" next week.

Comment by tracie on September 30, 2010 at 10:08am

I am very interested in the connection between ASD and Duchenne. My 21-year-old son, Christopher, was diagnosed with ADHD and specific learning disabilities back when he was in first grade. We always noticed difficulty with eye-contact, and reading social cues. There really wasn't any information out there back then about the possible connection. If he were evaluated today, I don't know if he would fall within the diagnosis of ASD, but he certainly exhibits some of the symptoms. We were watching an episode of the tv show "Parenthood" last night and one of the young characters has ASD. The episode focused on the father's frustration over the lack of connection with his son and his son's seeming disinterest in him. Wow! It was my husband, my son and I watching the show and we all kept looking back and forth at each other. It was like they had taken that directly from our lives! My son said that it seems to explain alot, why he likes to spend time alone, the repetitive behaviors, need for structure, difficulty with transitions and change. I read a post on this site from Micah'sDad that he read that the deletions on exons 45-52 seem to be more related to this connection.Christopher's deletion is on exon 45. Very interesting and I hope that there will be more information available soon about this.

Comment by Denise Gionet on September 14, 2010 at 5:07pm

Hi Karen, I'm glad to hear your son tested as not being autistic, that is very good news. My son has Aspergers which is part of the spectrum but is very is different in many ways from autism. There are a number of diagnoses on the spectrum that are not autism as people generally know it. Also my son was originally diagnosed with Sensory Intergration Dysfunction several years before he has diagnosed with Aspergers. It is a separate diagnosis that isn't necessarily a part of autism or any other diagnosis. A child could have sensory issues with no definate known cause. If anyone is interested - an excellent book for anyone interested in sensory issues regardless of the cause is The Out-Of-Sync Child by Carol Stock Kranowitz.

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