Mergath Posted October 23, 2011 Share Posted October 23, 2011 I just read this on msnbc, and I thought it was fascinating: http://vitals.msnbc.msn.com/_news/2011/10/20/8418826-autistic-children-have-distinct-facial-features-study-suggests I know that with my dd's genetic disorder, kids that have it also tend to have certain distinctive features that are extremely subtle. This study seems to me to be more proof that at least some cases of autism have a genetic basis. Sorry, I hope this makes sense... my coughing just woke me up and I'm still pretty groggy, lol. Quote Link to comment Share on other sites More sharing options...
gardenmom5 Posted October 23, 2011 Share Posted October 23, 2011 well, there was a recent study released demonstrating *some* autistic children are missing a gene cluster on chromosome 28(?). Quote Link to comment Share on other sites More sharing options...
Mergath Posted October 23, 2011 Author Share Posted October 23, 2011 well, there was a recent study released demonstrating *some* autistic children are missing a gene cluster on chromosome 28(?). My dd's genetic disorder- 16p11.2 Deletion Syndrome- causes autism in 1 in 3 kids who have it (at least, as far as they know- it's still fairly newly discovered). A lot of kids who have it don't develop autism, though. Genes are such complex things. Quote Link to comment Share on other sites More sharing options...
NittanyJen Posted October 23, 2011 Share Posted October 23, 2011 There are many genetic causes of autism. Researchers do not yet know whether or how they might be linked (or not). This is possible because of the way different genes can interact on different chromosomes. Some of the more severe cases of autism outside of Rett Syndrome, which is a special case (involving a point mutation of the gene MECP2) involve a duplication of the Prader-Willi/Angelman Syndrome region of chromosome 15 (the area normally deleted in kids with PWS or AS is instead duplicated). Those idic(15) (interstitial-15) duplication kiddos can also have some mild facial dysmorphisms. It was long believed that Idic(15) was the largest contributor to the autistic population, at about 5%, but now it is thought to be about the second largest contributor. The change in understanding came to light with the advent of the relatively new microarray technology adding huge amounts of data to the existing FISH, PCR, Sothern blot, and other techniques already in use. Much gratitude is owed to the generous families who have participated in research studies, giving up time and providing samples of blood and saliva to permit these studies to take place. I would encourage any family with a person with a disorder to consider participating in basic research. I know we still know way too little about XXY and other sex chromosome variations, and even the research on autism continues. And needs more family participation. Several other chromosomes have involvement as well. Quote Link to comment Share on other sites More sharing options...
cindergretta Posted October 23, 2011 Share Posted October 23, 2011 I am extremely interested in this. I am eager to participate in any studies regarding autism but so far, we (our children) don't seem to fall into the right guidelines for any of them. (That sounds odd, but autism is near and dear to me and I would love to be a part of the process that leads to greater understanding. I am personally so tired of people thinking my Aspie ds and my spectrum dd just need more discipline, structure, punishment - read: spanking. :( ) Quote Link to comment Share on other sites More sharing options...
scrapbookbuzz Posted October 23, 2011 Share Posted October 23, 2011 Did you notice that the "study" was only done on boys? Why not girls? Quote Link to comment Share on other sites More sharing options...
specialmama Posted October 23, 2011 Share Posted October 23, 2011 Did you notice that the "study" was only done on boys? Why not girls? There's simply more boys available. Four times as many. Quote Link to comment Share on other sites More sharing options...
Pamela H in Texas Posted October 23, 2011 Share Posted October 23, 2011 (edited) And many times studies are done on a very select group first then broaden out. We need to take out as many variables as possible when first considering something. Then we add back in some things to see if our first results still hold water or if it changes if you have A or B variable. ETA: I sure wish they were considerably more detailed with lots more pics. Edited October 23, 2011 by 2J5M9K Quote Link to comment Share on other sites More sharing options...
merry gardens Posted October 23, 2011 Share Posted October 23, 2011 I just read this on msnbc, and I thought it was fascinating: http://vitals.msnbc.msn.com/_news/2011/10/20/8418826-autistic-children-have-distinct-facial-features-study-suggests ... Really interesting. A few years before my BIL was diagnosed with HFA (as an adult) I saw a picture of a man on the cover of a book written on autism and I thought there was something about him that looked remarkably like BIL. Dh thought it looked like his brother too. Now I want to go look at BIL's picture and compare it to the description in the article. Quote Link to comment Share on other sites More sharing options...
merry gardens Posted October 23, 2011 Share Posted October 23, 2011 Did you notice that the "study" was only done on boys? Why not girls?When they just want to design and conduct a simple study to see if they'e onto anything, then fewer variables makes the study easier. A study like you suggest would have to look at four variables. There are likely already some facial difference males and females. (Cheekbones and jawbones differences between "average" men and women come to my mind.) Since this study picked up a statistical difference in faces of one sex with autism, a good follow-up study to this one would look at the facial features of girls with autism compared to girls without autism. Quote Link to comment Share on other sites More sharing options...
Jennifer in MI Posted October 23, 2011 Share Posted October 23, 2011 I have a friend who participated in this study with her family! It was extensive. Quote Link to comment Share on other sites More sharing options...
NittanyJen Posted October 23, 2011 Share Posted October 23, 2011 Did you notice that the "study" was only done on boys? Why not girls? Autism is a very complex disorder; doctors who are really qualified to give the parents that dx ( who are smaller in number than those who do, unfortunately) treat it as a diagnosis of exclusion, ruling out other problems, not just ticking off a few checkboxes saying the child meets the xyz criteria. part of the reason for this variety is are the varied genetic basis of autism. As parents of autistic children well know, it is also a spectrum disorder, meaning it affects every individual individually-- ten kids could have ten different causes of autism and ten different presentations of autism. I agree with several of the PP. if launching a pilot study, I would choose from the larger population group, hope I struck from >1 genetic source of autism, and stick to one gender, simply for good research design, and expand later. To the PP who wished better chances to participate in research-- are you in contact with a national support group that keeps track of research opportunities? That is your best source. Idic(15) kids have the IDEAS group; 47XXY kids have both KS&A and The Focus Foundation (by the way, TFF is also connected to a great educational diagnostician who supports kids with autism, dyslexia, and other Ed. Problems-- I never worked there; she helped my XXY son tremendously so I am happy to plug her-- and she may have some research pops on her website, not sure). Quote Link to comment Share on other sites More sharing options...
hsbaby Posted October 23, 2011 Share Posted October 23, 2011 Interesting. My dd seems to fit that physical description. Quote Link to comment Share on other sites More sharing options...
Dmmetler Posted October 23, 2011 Share Posted October 23, 2011 I find this interesting, because since I teach early childhood, I've now taught quite a few kids who were DXed as being at the high end of the spectrum after I had them-and thinking about those kids, and looking back through pictures, there are similarities. I'm still not sure if it's facial structure so much as facial expression, though. I also wonder if that's why, when I've brought up my concerns about DD to parents of kids on spectrum (she's been tested and supposedly is not autistic, just gifted with sensory overexcitabilities) they've always responded that "She doesn't look autistic"- even though we have a lot of common stories about behaviors. Maybe science is discovering something that parents of kids on spectrum have known at some level for awhile?? Quote Link to comment Share on other sites More sharing options...
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