Smith-Magenis Syndrome

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	If it was possible to stand on the worlds largest soapbox and yell thru the worlds largest megaphone I would shout"PLEASE ANYONE WHO HAS EVER HAD A PDD-NOS DIAGNOSIS AS WE DID FOR 13 YEARS.....PLEASE GO TO WWW.PRISMS.ORG!"  I beg of any and all of you to pleeease check it out!  It dosent change a thing about your childs diagnosis yet it changes EVERYTHING! When you go thru the sleepless nights,self injurious behaviors,hypotonia,explosive outbursts,sensory issues,all very similar to Autism. Some things that separate this diagnosis are easy to spot such as a hoarse voice or hypernasal speech,delayed speech,endearing personalities,angelic features as a small child,absoluetly adorable kids,middle ear infections,strange obsessions to particular items or charachters....you see, so much like Autism.  There are 500 in the US,and 100 throughout the world.  This is vastly UNDERDIAGNOSED.  Review some of the video feeds and if you see a child like yours your hair will stand on end.  Please just checkmit out.  You havent heard the last of me!!!!! It does seem to have similarities to ASD, but the first thing I noticed when I went to the link you gave---was the way the kids "looked". There is a very distinctive face about them. They "look" like they have a disorder. Just like the way you can notice the way Down Syndrome children look. It's something physical about them. I've noticed---ASD children have no physical "looks" that tell anyone---"it's ASD". They all look "normal"--unless they had other issues going on with them. Thanks for bringing this up. It is a good thing to check out as another possibility. Not all of them display this "look"  If I had to give a percentage Id say 60/40. I went to a conference in May in D.C. about SMS and met about 50 other kids and Id say 60/40 is fair...help spread the word if you can,alot of the parents who received a late diagnosis are generally alone in their city with no others to relate to.  There are 3 of us in our city which is extremely rare (at this time of diagnosing) and we are so so fortunate to have each other.  Thanks for checking it out. I appreciate that!! I couldn't find any video, but I looked at the picture gallery and thought almost all of the kids looked like ordinary kids, I mean there wasn't much that really jumped out at me, which may be why it is underdiagnosed. http://prisms.org/gallery2/main.php?g2_view=core.ShowItem&am p;g2_itemId=1107 I looked over the list of symptoms, and there is certainly a lot of overlap with autism.  However, there are some observable traits that seem relatively rare in autism but are very common in SMS (ie more than 75% of SMS patients have them).  Whenever people on this forum mention low muscle tone, a high degree of oral-sensory dysfunction and/or high pain tolerance, I'm going to mention SMS. I agree with holly it is similar and it does have merit but there would be no way at all to get it confused with autism autism is all about the triad of impairments and only ASD has the problems with the three or two if aspergers Its the same with fragile x i cannot for the life of me understannd why these tests are done with autism fragile x has very prominant facial feacila  features and   asd kids are discribed many times has angelic and no physical features shell Norway Mom, thank you for looking it over,and recognizizng the similiarities.  Not even the "experts" can always detect this by looking at a child. Some children are not as severe as others,and lots of times it takes years to correctly diagnose.  I have lived this for 13 yrs.and others for 20 plus yrs. I know what we have been thru...so why not be proactive and help another. When PDD-NOS is given I URGE everyone to consider SMS. No not everyone is the perfect picture of an SMS kid,but mine was and by accident I met this other family. Our lives have changed and so has the attitudes of those around us.(ie: school,physicians,neuros,psychs,and even geneticists) I will not stop until Im satisfied. Thank you all for your comments.... I took a look - some overlap, but not enough in our case to think that this might be the cause.  Would this disorder be caught by standard genetic testing (FISH)? In any case, it goes to show that there are genetic developmental disorders that aren't "obvious" - sometimes, with our kids, their autism is attributed to things other than genetics, but sometimes I wonder if there is an underlying genetic disorder, just one that doesn't cause obviously dysmorphic features. I took a look - I can certainly see why this could go diagnosed as PDD-NOS - I am going to save this link though if any other parent who is here however not necessarily ASD - since I did not see a social disability - did I miss something  They have some facial features. My daughter has no social idea 1/2 the time. You can have a normal IQ with form of autism. KajoliT right but this is scary another disorder. I was a quick question does fish run in families?  I looked too. I was recently educated by our geneticist on certain disorders and dysmorphic features. They should not be a part of the reason for testing (ex...if they don't test for fragile x or angelman's just because ds doesn't look like he has it).  Some people can have these disorders without the distinctive dysmorphic features. I will ask about this one at our next appt. I took a look at it.  I'll ask our pediatrician about it when we go back.  Are kids with this disorder verbal?  Do they make eye contact?  I didn't have time to do a detailed reading so I might have just missed that part.- Looked at the photos but didn't read. I agree the children all have the same 'look', similar to the way all children with down's have the same 'look'. But i can see how if they were viewed seperately, a doctor would be likely to misdiagnose. It's only when they are viewed together that it is apparent they look alike. Interesting. I have never heard of this. More studying! Thanks for bringing it to our attention. Very few Peds seem to know about this ,so dont be surprised if you get all your info from the Prisms website. They in fact are verbal,make eye contact,are big jokesters,yet dont understand many jokes!! However the verbal part didnt come for us until my son was 4 yrs.old. He started to learn sign language in pre-school and he language exploded.  They are hard to understand even later on into their teens. Hes also affectionate but there is a limit,no touching the head,or smoothing the hair,no back rubs or light touches.  However this is obviously not all of them because at the conference I saw plenty of Moms doing just those things. So again another Autistic trait. Not every one of them carries 100% of the criteria explained.  Looking into it is harmless. Rule out one more thing.  I know of parents who had tests done that only fulfiled to the 14th chromosome.  The deletion is in the 17th. How disappointing wold that have been yrs. later?  Keep me up to date if you pursue it. Im interested.Hey BEGINNER,hats off to you. My point exactly.  I care so much about the rise in Autism and this is my passion...I want people to have explanations,help,understanding and I want those who try to wreck our lives to listen up and stop the ignorance. I have not yet met a family with an Autistic,Aspergers,PDD child that I have looked at as uneducated white trash ignoring the problem.  These people seem to give it all and often do this with more than one child at home.  I chose not to have anymore and give him all my attention,long before we knew exactly what was going on.  I just seemed to know this was going to be no walk in the park.I am also a sibling of an undiagnosed high functioning Autistic brother. We were born in the late 60's he in 1970 and still today no diagnosis of any real thing.  I have already lived a lifetime of this. Im so glad to know you are interested. Keep me posted.Id love to hear more!!Didmyou get my reply to Smith-Magenis earlier?  Im not sure it went thru according to what my computer says.... I will send again if needed,cant leave ya hangin!!!
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