Like Father, Like Son: Chromosome 16 and susceptibility to autism
Almost a year ago, a study was published in the February 2007 Nature Genetics suggesting that 90 percent of autism may have a genetic basis. Either a deletion or a duplication of a section of chromosome 16 seems to contribute strongly to susceptibility to autism, a study published in today’s New England Journal of Medicine by Lauren A. Weiss et al., for the Autism Consortium. The Nature Genetics study analyzed data from DNA samples from 1,168 families and suggests that autism has “numerous genetic origins rather than a single or a few primary causes.” The full text of the just-published NEJM study can be read online; the abstract follows.
Background Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role.
Methods As a first component of a genomewide association study of families from the Autism Genetic Resource Exchange (AGRE), we used two novel algorithms to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Specific recurrent de novo events were further evaluated in clinical-testing data from Children’s Hospital Boston and in a large population study in Iceland. [”De novo” refers to genetic mutations that are spontaneous and present in the child but not in his or her parents, in contrast to inherited mutations.]
Results Among the AGRE families, we observed five instances of a de novo deletion of 593 kb on chromosome 16p11.2. Using comparative genomic hybridization, we observed the identical deletion in 5 of 512 children referred to Children’s Hospital Boston for developmental delay, mental retardation, or suspected autism spectrum disorder, as well as in 3 of 299 persons with autism in an Icelandic population; the deletion was also carried by 2 of 18,834 unscreened Icelandic control subjects. The reciprocal duplication of this region occurred in 7 affected persons in AGRE families and 4 of the 512 children from Children’s Hospital Boston. The duplication also appeared to be a high-penetrance risk factor.
Conclusions We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations.
The January 10th New York Times comments:
The finding is not likely to improve diagnosis or treatment for most children struggling with autism or related problems anytime soon, experts said, but it points to a specific chunk of DNA where some developmental problems could originate. …………..
The rate of the chromosome alteration in a group of normally developing people was one in 10,000. “The analysis tells us that this is a very strong risk factor for autism, increasing the risk by ten- to a hundred-fold,” said the study’s senior author, Mark J. Daly, an assistant professor of medicine at Harvard and Massachusetts General Hospital.
The rarity of chromosome alteration in people without developmental problems, Dr. Daly said, suggests that natural selection has worked against it — most likely because its effects on development can be disabling.
In the past year, several research groups have linked spontaneous alterations in this or nearby areas on Chromosome 16 to a variety of developmental problems, including autism. It will take more research to determine which precise alterations lead to autism or other neurological problems, they say.
The authors note that, in the case of one of the autistic individuals from Iceland with the 16p11.2 deletion, the delection was “inherited from a father who had attention deficit–hyperactivity disorder (ADHD).” (In the other two cases, the deletion was a de novo event and the origins of the deletion in the second case were not known.) I remarked upon this because, as I’ve noted here, my husband has ADHD and has often noted similarities between his own “wiring” and Charlie’s. If I may offer one example of this: I am the one person in our household who knows where misplaced keys, cell phones, glasses, favorite photos, a favorite CD, a blue coat, etc., are most likely to be found (because all of these things are randomly set down in many random places). (And yes, I know where my keys, cell phone, glasses, etc., etc., etc. are most always.)
Another example occurred to me in watching Charlie at his first-ever Special Olympics basketball practice tonight. It was held in the gym of an autism school (not Charlie’s) and most of the children, with a few exceptions, were (1) older than Charlie; (2) had been on the team for some time; (3) knew the basics of passing, dribbling, shooting. Jim and I both figured that we might just spend this first practice with Charlie acclimating himself: So many new people, kids of both genders (it has been a few years since there was a girl in Charlie’s classroom) and with different diagnoses, coaches, parents on the sidelines, a new space with new echoes and sounds….and a new sport. At first, Charlie just kind of ran back and forth, threw the ball back and forth with Jim, and asked for his coat. Jim positioned Charlie in front of a hoop and Charlie raised his arms slightly and threw the ball a short distance and waited to have it retrieved. The coach blew the whistle: Everyone was to line up and run.
I stood behind Charlie, who walked when I said “run!” and when I tugged at his hand. Another boy about Charlie’s height started to urge him on too—”Run Charlie run!”—-and I pointed to him and the other kids and said “Do what they do!” and “Do what I’m doing,” and ran. And Charlie ran.
And he walked (with a small reminder or two) when everyone else was walking, and then went back to running; he tended to start a few beats behind everyone else, so some of the kids were already running back while Charlie was just passing the halfway mark on the court. One of the coaches shadowed Charlie so that he stayed in one place with “arms up” when the ball was thrown his way, and when the players got in lines and practiced passing and shooting. Jim and I leaned against the bleachers and Jim recalled how he used to shoot and pass and how he got good, but attention issues and wiring issues and so much else kept arising for him, much as Charlie could be seen trying to figure out where the ball was and what was going on with this game.
Then the assistant coach got a ball and raised his arms and had Charlie aim the ball at his hands and, throw by throw, Charlie was throwing the ball higher. The coach modeled dribbling and then there was Charlie dribbling both handed and sometimes one handed up and down the sidelines, down and up. Jim stood by the net and the coach put up his hands and Charlie threw towards the basket and Jim threw him back the ball, again and again and again, more dribbling back and forth, more throws, Charlie grinning and throwing and almost jumping as he threw, Jim tossing the ball back, the ball rolling towards the door and Charlie running to retrieve it. The coach directed Charlie to dribble down the court and Jim ran over and Charlie threw the ball, the coach threw it back, Charlie threw and Jim threw it back, Charlie made a basket.
We stayed almost to the end of a 2 1/2 hour practice. I don’t think Charlie will play with the team in competitions this year but he and Jim have new plans for how to spend Wednesday night. On the way home, Jim said to me, “You know, the thing about basketball is…..you only need two people to play a game.”
Like father, like son………..together.
Some are questioning the NEJM study because it only accounts for approximately 1% of cases. Others ask why research dollars are devoted to genetic research that results in “nothing relevant to the pain [the] child lives with on a daily basis.” Indeed: Research about a depletion or duplication on one chromosome for 1% of cases of autism may not directly address gastrointestinal pain or provide answers to how to alleviate it. And yet I do think that research that adds to the evidence about the genetics of autism can alleviate some “pain,” as it helps parents to consider how our children are so very like us and yet so different. So often the pain I see in Charlie is caused by nothing physical or medical, but because he is increasingly aware of how sounds come haltingly and blurrily from his mouth, but not from those of other children; of how other children are with other children, playing ball and slinging around backpacks and he’s with me; of how he is different. And so the more I know about how connected Charlie is to us—genetically and otherwise—the more I feel I can learn to change and to seek to change the world a little for him.
Though I have to say—me being a 5 foot tall Asian American woman—- basketball is probably not in my genes.
46 opinions for Like Father, Like Son: Chromosome 16 and susceptibility to autism
Great genetics based article on Autism at b5’s AutismVox
Jan 10, 2008 at 4:21 am
[…] http://www.autismvox.com/like-father-like-son/ […]
Jen
Jan 10, 2008 at 6:53 am
While I always love to see research that is targeted directly towards making our kids’ lives easier, I think that anything that helps us put together the “pieces” of autism is useful. The more that we know about it, the better. Good, solid scientific research is never a waste, I don’t think…even if it doesn’t lead to anything immediate or direct, it often has applications once it’s applied to our knowledge base that we can’t even dream of at the time.
And as the mother of autistic triplets, it’s also nice to see our DNA going to something useful. I’m constantly fascinated by the differences and similarities as to how autism manifests itself in my children, and the more information that we can find out about them, the more tools that I might have to help them live the best lives that they can.
Liz D.
Jan 10, 2008 at 7:42 am
Here’s a suggestion for another category: Accurate modeling of desired behavior. It is at the heart of ABA, I suppose.
Charlie surely has great hands for basketball handling.
Also I giggled at the imagined picture of you as a basketball player. I’d be the towering figure in your league. Yes! The short women’s basketball federation!
Club 166
Jan 10, 2008 at 8:46 am
…Charlie made a basket. …
Woo hoo! That is huge!
Wat to go, Charlie. That ’s doing much better than I did the first time I tried to play basketball.
Joe
Linda
Jan 10, 2008 at 9:10 am
He conquered surfing last summer, basketball is next. It was his FIRST time and he made a basket! Here’s to the rest of this season in practice and next year in competition.
Kristina Chew, PhD
Jan 10, 2008 at 10:21 am
Surprise surprise—-I still can’t make a basket. Or catch the ball, for that matter.
Emily
Jan 10, 2008 at 10:32 am
We look for the causes of disorder/disease because they can and often do provide mechanisms for therapy. If we know the protein a gene encodes, we can develop drug or gene therapies that target that protein or some aspect of the regulatory pathway governing that protein or gene. It’s that simple. It’s something that’s being done RIGHT NOW for fragile X.
If the GI issues were genuine across the board or even in a substantial subset, the first place I’d look is at proteins/genes involved in the GI tract and whether or not differences exist among families living with autism vs. families with no such issues. It can be quite revelatory in unexpected ways to do this: people may believe that GI issues are “triggered” in some way by vaccines or illness, but even if that were the case, there would be an obvious physiological susceptibility, and the place to look for the root cause of that susceptibility would be the genes.
My husband is not even close to being ADHD, although I am, as are others in my family. Our middle son has been diagnosed with it.
For anyone who is dismissive of the relevance of 1% (and somehow, I think it would be an ironic revelation to know who those people are), I will remind them that there is allegedly an “epidemic” of autism, and that given the numbers some people throw around, 1% is an enormous number of people.
tracey
Jan 10, 2008 at 10:36 am
Way to go Charlie! I understand how that feels as a parent, but I can only imagine how great that made Charlie feel.
I am glad they are doing genetic research. Some people still don’t understand that when you begin discovering how you can then better help people get the best therapies that will actually work.
OH…btw…had to laugh. I often have to laugh to keep from crying. My husband forgets everything and where it is…it is actually a joke in his family. There are a lot of strories of interesting behaviors from when he was a child. My boys are just Daddy Extreme.
RAJ
Jan 10, 2008 at 11:42 am
“For anyone who is dismissive of the relevance of 1% (and somehow, I think it would be an ironic revelation to know who those people are), I will remind them that there is allegedly an “epidemic” of autism, and that given the numbers some people throw around, 1% is an enormous number of people”.
I am completely dismissive of this study.It represents every thing that is wrong with Autism Genetic Consortium since it began.
The primary structural flaw in the design of these studies is that it fails to control for mental retardation. Mentally retarded people all have global delays in social and language development and also can have compulsive behaviors that can be described as ‘autism’ symptoms.
There are numerous mental retardation syndromes associated with genetic vaiations that in a minority of cases also meet criteria for an ASD. These groups also have concomitant medical conditions and most have unusual physical features eg Fragile X and Down’s Syndrome. Far different than what the conceptualization of autism was 25 years ago.
As far as chromosome 16 findings are concerned, this is not new. Chromosome 16 defects are reported in mental retardation with or without autism as well as ADHD with or without autism. It is also a primary finding in Tuberous Sclerosis, another genetic mental retardation syndrome with a sub group also meeting criteria for an ASD.
The AGRE data base does not contain universally accepted IQ scores and cannot differentiate between a genetic mental retardation syndrome and a genetic autism syndrome.
AGRE uses ‘Gold Standard’ diagnostic tools such as ADOS and ARI-R, a checklist of symptoms described as ‘autistic’ symptoms but most of these symptoms are found in other neuropsychiatric conditions including ADHD, mental retardation and schizophrenia and many others. If you check off enough of the symptoms you qualify for an ASD diagnosis.
A recent study, one of many, on the neuropsychiatric functioning of Romanian orphans who experienced severe neglect in orphanages who were adopted by English foster parents compared to English orphans adopted by English foster parents were found to qualify for an ASD diagnosis. Bettleheim would be delighted with the results of the studies of Romanian orphans adopted in England, proving that autism is a psychogenic disorder caused by ‘refrigerator mothers’. Hard to argue with that concept since the orphans met ‘Gold Standard’ diagnostic tools for an ASD.
That says everything about the state of the art of autism and why there is an ‘autism epidemic’. With the introduction of DSM-III-R and beyond and the acceptance of ADOS and ARI-R ‘autism’ diagnostic tools with an ever expanding checklist of ‘autism’ symptoms most of which are not specific to autism, the concept of autism has become completely subjective.
Kristina Chew, PhD
Jan 10, 2008 at 11:57 am
One indeed senses the long shadow of Bettelheim in the studies on Romanian orphans; the diagnosis of autism has become a topic and even a research area unto itself. Unfortunately, of course, it is not so easy to study family genotype data for adopted children, regarding what might be inherited and what might be de novo.
RAJ
Jan 10, 2008 at 12:01 pm
Here is more on the chromosome 16 finding published today. The primary author has patented this breakthrough and expects an inexpensive genetic test to be available soon. The genetic variant may, or may not, predispose the fetus to an increased risk for mental retardation, autism or ADHD, but parents can make an informed decision about terminating the pregnancy.
Its enough to make this woman’s choice advocate to rethink the right to life argument.
http://www.theglobeandmail.com/servlet/story/RTGAM.20080110.wautismgta10/BNStory/specialScienceandHealth/home
Kristina Chew, PhD
Jan 10, 2008 at 12:08 pm
With companies like 23andme, deCODEme, and others that now offering genetic testing to individuals, it’s not surprising that new genetics tests would follow from genetics research —- Eye on DNA comments on the genetic testing market. From the article RAJ cited:
Jen
Jan 10, 2008 at 12:08 pm
I’m not sure what studies you or your children have been in, RAJ, but the psychometric testing that we’ve done in every genetic study that we’ve participated in have been very clearly defined to weed out the differences between mental retardation and autism. You said it yourself- mental retardation shows global developmental delays, whereas people with a diagnosis of autism show delays in specific (maybe different), but specific areas, and those delays are spread unevenly among developmental signposts.
As far as the Romanian orphans go, we were told when my kids were diagnosed in 1997 that while the Romanian orphans may be part of the “spectrum” in their behaviours, most specialists did not consider them true autistics, or at least a completely different subset (the same way that Rett’s is lumped in with autism, Asperger’s, and PDD, even though they are clearly all different).
I’m not sure from your post what you consider the problem with this study to be. Yes, there is certainly research that has been done on chromosome 16, and it’s a very good sign for those of us with autistic children that it’s continuing.
Autismville
Jan 10, 2008 at 12:27 pm
Loved the post Dr. Chew. Your description of Charlie at basketball practice, as with so many of your descriptions of other things Charlie does, was very encouraging.
Personally, it wold be so helpful to know what autism actually is. Studies like these are crucial.
Leila
Jan 10, 2008 at 12:46 pm
1% is significant, but not enough… I’m still waiting for major breakthroughs to explain the causes of autism. Better yet if those discoveries lead to the development of better medications/treatments.
Regan
Jan 10, 2008 at 12:59 pm
Kristina,
Thanks for sharing Charlie’s basketball practice. I concur–a basket the first practice? Cool! Please keep in touch with how it’s going–I am interested in the Special Olympics programs and have been thinking about some ball sport for Eleanor.
I have at least 3 reasons to appreciate the genetic research regardless if it results in a marketable product for us in the immediate sense.
1. I have another daughter, and I think that whatever her personal choice might be, the option of knowledge and forewarning is there.
2. The other reason is that if it can be tied to specific difficulties and trajectories, that could give some predictability of best approach for teaching and therapy.
3. As noted in the Fragile X news, there could be a point where a medical therapy is available because of this work. Maybe not for AUTISM (the observationally diagnosed disorder), but for the variant of a particular genetic region, whatever the name. That would be preferable to the throw things-at-it-and-see-if-it-sticks guesswork of today.
Basic research works for us.
Emily
Jan 10, 2008 at 2:01 pm
I made no comments about the significance of the study per se or its conduct; my point was that being dismissive of something that affects one percent of people with autism is quite sweepingly dismissive.
The reviewers who gave a pass to this paper for publication in NEJM obviously found it relevant enough and well conducted enough for publication in one of the two top generalist medical journals in the world. Considering that broad applicability and novelty are two criteria for publication in this journal, “complete dismissiveness” and a conclusion that the findings are not that novel at all are in direct disagreement with the expert peer reviewers and editors of this highly regarded journal.
Personally, I prefer to leave agendas of any kind at the door when I consider a scientific study. When I read what some people write, their agendas are so obvious that it obscures the meaning of their words; I actually don’t even understand what they’re writing. Also, I don’t find myself being “completely dismissive” of any study on the grounds that it doesn’t apply to me personally.
I find this study very compelling and interesting, for families with autism or mental retardation. The authors sum it up best (italics mine):
“…we have observed the identical deletion of nearly 600 kb in 13 subjects with autism or developmental or language delay (10 confirmed de novo mutations, 2 confirmed inherited mutations from parents with ADHD or mental retardation, and 1 mutation of unknown inheritance), with the reciprocal duplication of the same region documented in 11 additional subjects. The very low frequency (less than 0.1%) of dosage abnormalities in this region in the general population and the fact that we have yet to identify an instance in which the deletion was transmitted from an asymptomatic parent indicate strong natural selection, particularly against the recurrent microdeletion. A dosage abnormality in this region was present in 1% of autism samples from multiplex families, 1% of subjects with autism in a general population sample, and more than 1.5% of subjects with a developmental or language delay in a clinical setting.”
These findings provide strong inference, in my opinion. Apparently, also in the opinion of the editors and the peer reviewers.
Miriam Jang MD
Jan 10, 2008 at 2:17 pm
Even though this DNA deletion only accounts for a small percentage of Autistic kids—the ramifications are still massive in that, it is only a beginning. Right now, despite good success with the DAN (Defeat Autism Now) protocol which I practice (over 1,100 Autistic kids lost their diagnosis on it), we still have no real good measures for which kids will do well on what treatment. So for us to have reliable genetic markers is exciting beyond words. Please join me in keeping our hopes and prayers up for more breakthroughs like this.
I do agree that to use this to test for whether the second child would be affected or not is not practical since this only affects 1% of the kids.
God bless!
Miriam Jang MD
Please visit my blog:
http://miriamjang.wordpress.com/
Linda
Jan 10, 2008 at 2:21 pm
PS Charlie is 10 and in the fifth grade…nt kids in my town start in-town and more competitive basketball at the same age and grade!
Emily
Jan 10, 2008 at 2:40 pm
In all probability, it would be useless to test this for siblings or parents because it is largely a de novo mutation; it occurs in the parental germline and usually not in the progenitor cells of that line. Williams would be a good example of this in the general population; a one-time mutation occurring in the cells that make sperm or eggs as they are making the sperm or egg and a one-time use of that sperm or egg in creating a zygote. The crossing-over stage of meiosis is a probable culprit, something that occurs in meiosis I and produces a one-time error. In other words, siblings aren’t generally expected to have it, and by definition, parents wouldn’t, either.
VAB
Jan 10, 2008 at 2:49 pm
ASD is a loose grouping of behaviors about which society is particularly concerned at the moment. I am fairly sure that, long before we have cataloged the hundreds, if not thousands, of things that underly the behaviors in this grouping, society will have stopped being so interested in this particular group of behaviors.
Jen
Jan 10, 2008 at 3:14 pm
In other words, siblings aren’t generally expected to have it, and by definition, parents wouldn’t, either.
And interestingly enough, I have fraternal triplets who are all diagnosed (and who would theoretically have no greater chance than that of the general population of being affected if only one of them was, since they are fraternal) , and neither parent (theoretically) is even vaguely on the spectrum. And I don’t think that it’s in question that triplets and up are much more likely to have one or two affected siblings than general populations once you look at the multiplex studies, so for at least a small part of the population, genetic studies are very interesting.
ange
Jan 10, 2008 at 3:47 pm
Oh good, VAB already said what I wanted to say. I also agree with being very uncomfortable where genetic research is heading. Everything else came out unorganized and harsh, so I deleted it, but I understand exactly where RAJ is coming from.
Emily
Jan 10, 2008 at 3:56 pm
Jen, I was referring to this particular case of de novo mutations described in this study, not to genes in general that may be associated with autism. Given the situation with my three sons and my knowledge of concordance studies, I have no doubt that there are other heritable components present somatically in the parents and passed along to the children. As I’ve said elsewhere, I don’t think OUR family falls into this particular one percent.
You say that neither you nor your children’s other parent is “even vaguely” on the spectrum, but you might have “vaguely” associated traits that most people don’t even consider to be related to autism (in my mind, these include ADD/ADHD, OCD or tendencies thereto, Tourette’s, bipolar disorder, MDD, compulsions, addictions, sensory issues, etc.). In many families I know who also have autism in the family, these traits are dotted through the family tree, among others.
To clarify: “de novo” does NOT unequivocally mean that it is impossible for siblings to have the gene, too; if the mutation occurs in the progenitor cells, then 50% of all gametes (sperm or egg) made will carry it, carrying along with it the standard Mendelian probability that 50% of offspring will carry it. But typically, these errors occur during meiosis of a specific spermatocyte or oocyte, not in the progenitor stem cells. It’s just the likeliest time for errors to be introduced. For that reason, cost-benefit analysis of testing for this particular deletion probably comes out on the costs side of things.
Emily
Jan 10, 2008 at 3:58 pm
RAJ’s suggestion is nothing new. James Watson has brought it up before, very offensively. It’s another cost-benefit situation: do we pursue the basic research as a way to identify the mechanisms underlying the disorder(s) and potentially identify therapies, or do we sit back and not do this work out of fear that it will be used in eugenics?
ange
Jan 10, 2008 at 3:59 pm
And I’m curious if the father with ADHD who had a son with autism and the same deletion. Did have other children NOT diagnosed with ADHD or Autism? Did they also have the same deletion? To me the story not being researched is just as important, especially if you’re trying to use something to “predetermine.”
I am not making sense because I am emotional. I wrote a post somewhat about why I am emotional about this, last year, here: http://miscthing.blogspot.com/2007/07/not-ideal.html
Emily
Jan 10, 2008 at 4:11 pm
If the father who had ADHD who had a son with autism with the same deletion carried the deletion in his own somatic cells, then the mutation will also be packaged into half of his sperm cells. That means that each child he fathers would have a 50% chance of receiving that deletion. One thing I wonder is how accurate the ADHD dx is.
You can email the researchers and ask them this question (mjdaly@chgr.mgh.harvard.edu.); I’m guessing they probably have the answer. Anyone engaged in this research would have asked the same question and sought the data. Likely, there are no siblings; if there were, they would have identified the siblings, given the presence of the somatic mutation in the father, to see if they (1) carried the mutation, and (2) presented symptomatically. It would have made the study even more interesting either way, so I’m thinking there are no sibs.
They do state in the Suppl Material the following: “Our final dataset included
1,441 affected individuals (1,252 autism, 123 broad spectrum, 66 NQA), 1,420 parents,
and 132 unaffected/unknown siblings (Table 1).”
I’ve gone ahead and emailed this question to Dr. Daly. We’ll see if there is a reply.
ange
Jan 10, 2008 at 4:50 pm
Wow Emily, you know your stuff. I just understand enough to get emotional, confused, and curious. Of course I saw the terribly boring movie “I am legend” last week, but it still rekindled seeds of fear/anxiety re: “cure”
I am OCD, Hubby is ADHD, two sons dx with PDD-NOS, 1 of which has agenesis of the corpus collosum. The specialist has been pushing us to do fragile x testing along with “Chromosome microarray analysis … to diagnose a submicroscopic chromosome duplication or deletion. ” I haven’t done it yet in over a year and the doc isn’t happy with me.
The doctor’s letter states “[BUBBA,] who is a[n] almost 8-year-old boy with autism, mild mental retardation, an absent corpus callosum, brain heterotopias on Head MRI, short fifth fingers, and partial syndactyly of his 2nd and 3rd toes. His features are highly suggestive of a submicroscopic chromosome abnormality.” Then go look at this (Bubba as a toddler): http://www.youtube.com/watch?v=WAjQzja22tA
I feel like I am not contributing to the greater good by NOT doing the tests, but the picture of my children on paper is so incomplete and misleading. It is accurate nonetheless, but is incomplete. And that “incompleteness” is what people are basing therapies, cures, etc. on.
Nevermind that my husband has the short finger thing, I have the toe thing, I mean come on, we know it’s genetic, he’s OUR child.
Sorry for the personal information intrusion. I am having “issues” today.
Emily
Jan 10, 2008 at 4:54 pm
I’ve heard back from Dr. Daly. He says that the folks in Iceland would have dealth with that information, and he’s going to check with them. If I hear anything, I’ll let Kristina know.
Emily
Jan 10, 2008 at 4:56 pm
And in using “dealth,” I was, of course, simply harkening back to a kinder, gentler Shakespearean era, rather than making a typo. ;)
Kristina Chew, PhD
Jan 10, 2008 at 5:14 pm
Thanks for all of this, and if you heareth anything more, we more than welcometh knowing…….zounds, I think there’s a Shakespeare bug spreading.
Emily
Jan 10, 2008 at 5:20 pm
Ange, our dev ped strongly recommended that we have our son tested for Fragile X. She recommended it twice, but then followed up saying that it was “highly unlikely” that he carried that particular mutation (I think because he doesn’t have general MR; he tests very “low” on some things, but normal or high on others). And I have to admit–I was and am reluctant to pursue that avenue. If it’s the X, it’s mine. I emotionally do not want to know about that…the ramifications would go far beyond me or my son. But intellectually, I know that (1) it’s unlikely to come up as fragile X, and (2) if it is, we need to know. Yet, here I sit, three years later….
Our youngest has a Chiari I malformation (extension of the cerebellum into the foramen magnum). And there we stop…we don’t know whether it has anything to do with his “issues” or not and are still pursuing it.
Kristina Chew, PhD
Jan 10, 2008 at 5:29 pm
@ange,
Charlie was tested for Fragile X and does not have it. I’m very aware of “signs of autism” on both Jim’s and my families. Undiagnosed but present in mine; Jim has a first cousin whose eldest son as Asperger syndrome. (And he’s ADHD, I’m OCD.) Charlie has very long fingers — he can reach an octave plus without trying.
Thank you for the video “performance”!
@Linda, wow, we’re on “schedule”!
Leila
Jan 10, 2008 at 5:45 pm
Many times Asperger’s gets diagnosed as ADHD…
Leila
Jan 10, 2008 at 5:58 pm
Kristina I didn’t mean to say that was Jim’s case, of course! It’s just that in the study they mentioned the diagnosis of the father as ADHD, and I wonder how accurate this is.
Anyway, this is a pretty interesting discussion. I wish I could enroll my whole family in a genetic study (including grandparents, aunts, in-laws, cousins, all the people that show any signs of being in the spectrum…) and see what they could find out about our history.
I wonder the probability of my younger brother (yet to be married and have kids) and my nieces and nephews having autistic offspring themselves.
Kristina Chew, PhD
Jan 10, 2008 at 6:17 pm
Not at all! I thought I might be making too much of that detail but it did stand out to me. Jim and I have talked about how he would have had an IEP had he been a child now (and more help in math and science, which he struggled significantly in, rather than being left to deal with those subjects as he could).
I wonder about Charlie’s first cousins on Jim’s side too.
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Jan 23, 2008 at 2:04 am
[…] athompsonReally interesting read I found today:The authors note that, in the case of one of the autistic individuals from Iceland with the 16p11.2 deletion, the delection was “inherited from a father who had attention deficit–hyperactivity disorder (ADHD).” (In the other two cases, … […]
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Children and Genetics
Jan 30, 2008 at 1:21 pm
[…] families and relatives of autistic children to know that they might “carry” some of the genes that have so far been connected to autism? Tags: asd, asperger, autism, autism spectrum disorder, […]
Deb K
Feb 28, 2008 at 12:45 am
How about Ivitro fertilization?? I had this and had twins 1 typical boy 1 girl with Autism.Also they used something called assisted hatching, lots of ultrasounds!!! Then those shots!!! She had a reaction 2 times DPT!! My Mom had low lithium levels guess this is why she does also.Low lithium effects brain developement.They did a study (think it was Arizona state??) Autistics with low Lithium and parents.Wow sounds like Autism soup! I think this is why its so hard to pinpoint this Autism thing!! I am sorry about my bad spelling:) I am all about ART Have lots of tallents but not spelling!! Love this website!!! So interesting!!!
Kristina Chew, PhD
Feb 28, 2008 at 1:40 am
I’ll have to look up the lithium study—-really interesting—-and I’ve been known to make a spelling error or two……. very best wishes!
Deb K
Feb 28, 2008 at 10:25 am
Hello, Yes it is ASU! Just google Study for low lithium and Autism.Lot’s a good stuff comes up :)First I did hair analysis testing then much later did blood she’s off the charts lowww.Was afraid about sup but found 800mcg are ok.Docs said too much lithium can cause brittle bones? Low dose prob ok?Tori’s on GFCF adding Hopewell B12 creams Glutithione cream also. They are helping her.Hurray!! Now we have the slow moven bowel issue to get through! I feel every year it gets better.Keep the faith!!!!!!!!!!
Vaccines and Genes
Apr 2, 2008 at 4:00 am
[…] novo mutations; disruptions in the gene contactin 4; CNTNAP2 as an autism susceptibility gene; and Chromosome 16. Of the last-mentioned, Stipp writes: Why would genes linked to autism be so […]
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