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| -Short Attention Span Theater- |
| New autism genes found |
| 2010-06-10 |
| Links embedded in the article can be found at link. Researchers have identified dozens of genes that inrease the risk of an individual getting autism, according to a new study published in the journal Nature. Genetic data were collected from 1,000 people with autism spectrum disorder and 1,300 from individuals without ASD. Researchers found those with autism had more genetic insertions and deletions--called copy number variants or CNV--in their genome than those who did not have the disorder. Some of the variants seemed to be inherited while others appeared to be new, meaning they were found only in the affected children, but not their parents. "Identifying these copy number variants in young children at risk of autism will help us to implement earlier treatment," said Louise Gallagher, Trinity College, Dublin and a study co-author. "Currently autism diagnosis is entirely behavioral and lengthy. Some children are not getting a diagnosis until as late as 5 years old. With earlier detection these children could get earlier intervention which may limit the severity of the condition particularly their co-morbid difficulties." Researchers believe these discoveries could lead to the development of new therapies. "Piece by piece, we are discovering genetic mutations that can cause autism. These findings will provide answers for families about what contributed to their autism," said Andy Shih Ph.D, Autism Speaks vice president for scientific affairs. "Furthermore, as we have learned from examples involving other genetic risk factors of autism (e.g., Fragile X, Rett, TSC), these genetic findings help us understand the underlying biology of autism, which can lead to the development of novel treatments." Autism Speaks, the country's largest autism advocacy organization, invested $9 million in the study. "The exciting thing about the findings of this study is that they point to specific biochemical pathways and targets for drug discovery and these findings bring hope to many families who struggle with autism every day," said Geraldine Dawson, chief scientist at Autism Speaks and a study co-author. "What is critical now is to translate these basic biological findings into clinical tools for early detection and treatment. We are now developing behavioral interventions for infants and toddlers who are at risk for autism so these findings will allow early detection that can provide children with interventions as early as possible." Steve Scherer, one of the researchers in the study says the results will lead to a paradigm shift when it comes to our understanding of the root causes of autism. "Our research findings point to the fact that the genetic variations that we discovered are actually rare in frequency meaning most individuals with autism are probably genetically unique each having their own genetic form of autism. Now that we know there are numerous genes involved in autism, another very very important finding of the study is we are actually able to tie these genes together in the same biological pathways or networks and they seem to be involved in how the brain functions. Knowing these autism genes are linked we can begin to develop rationally derived therapies to target the common pathways involved for the very first time." The Autism Genome Project is currently analyzing another 1,500 families. Organizers want to start the next generation sequencing of the whole genome--searching for new mutations to try to finish the puzzle that is autism. According to the Centers for Disease Control and Prevention, (http://www.cdc.gov/ncbddd/autism/data.html) an estimated one in 110 children in the U.S. have autism spectrum disorders. Boys are four to five times more likely to be diagnosed as girls. The causes may vary and include biologic, genetic and environmental factors, there is no known cure. |
| Posted by:gorb |
| #23 In which case there cannot be a genetic (hereditary) cause. Although, a large increase in the frequency of chromosomal damage is a possibility, but there is no evidence for this that I am aware of. These kids have genes that make them susceptible to autism. Either through damage or decreased selectional pressure or sensitivity to something in the environment. TW, part (and perhaps most of) the problem is the medical professions adherence to the single cause disease paradigm. This results in searches for the sole or primary cause where probably none exists. Schizophrenia is a good example. I have been hearing every 5 years for the last 50 years that the biochemical cause has been found and each time its a new cause. In this case the medical community is highly aware that there are several causes, and they know it's going to be a bi+ch to solve. IMO autism and schizophrenia result from genetic tendencies combined with innapropriate or dysfunctional learned behaviours. Behaviours that work for the person with autism/schizophrenia, at least temporarily, but not for everyone else. Something like that. I'd add that parents of autitistic children have a strong need for a genetic/biochemical cause, because the alternative is that they have taught their child to be autistic. Which unfortunately is probably true is many/most cases. I don't think "taught" is the right word. Perhaps "allowed" is closer. I think any aware parent knows that if they allow some odd behavior to continue that it will become ingrained. Our son tried the hand flapping thing. He tried toe-walking. He's tried lots of stuff. We stopped it immediately because these behaviors build upon themselves until the kid is completely out of control. We were fortunate enough that we found ways to cancel these behaviors, but we did have to invest a lot of work into it. For some kids, these behaviors are impossible to stop, for others their parents don't try to stop them for whatever reason. I have to admit that a lot of parents simply resign themselves to their kids being autistic and don't really try all that hard because it isn't convenient. Society also plays a big part here. People are walled off from each other. Schools stick all these kids together and the behaviors that the teachers are not able to cancel just end up reinforcing each other across all the kids in the classroom. It's medieval, but it's all that many school systems can envision. Putting these kids in with regular kids ("developmentally typical" is the PC phrase) actually helps diminish these behaviors, and gets the regular kids to thinking about society in a deeper way when they see what these other kids have to deal with. |
| Posted by: gorb 2010-06-10 22:27 |
| #22 How can you teach your child to be Autistic? Unless you are treating them in a seriously abnormal fashion. Kids are pretty tough and resilient for the most part. I agree that some mental symtoms may be learned. I remember hearing about a person who grew up in a institution (because he was placed there 'temporarily') and 'learned' from the other patients to act a certain way. Eventually it was found out that he could function normally - it ended with him starting to get retrained. But I can't believe that all those parents are 'teaching' their kids to be autistic - particularly the serious banging-head-against-the-wall ones. It may be environmental. Or it may be just better (or worse as in diagnosing delayed children with it) diagnosis. Maybe its evolution in action.... |
| Posted by: CrazyFool 2010-06-10 20:32 |
| #21 cases of extreme autism have gone through the roof. In which case there cannot be a genetic (hereditary) cause. Although, a large increase in the frequency of chromosomal damage is a possibility, but there is no evidence for this that I am aware of. TW, part (and perhaps most of) the problem is the medical professions adherence to the single cause disease paradigm. This results in searches for the sole or primary cause where probably none exists. Schizophrenia is a good example. I have been hearing every 5 years for the last 50 years that the biochemical cause has been found and each time its a new cause. IMO autism and schizophrenia result from genetic tendencies combined with innapropriate or dysfunctional learned behaviours. Behaviours that work for the person with autism/schizophrenia, at least temporarily, but not for everyone else. I'd add that parents of autitistic children have a strong need for a genetic/biochemical cause, because the alternative is that they have taught their child to be autistic. Which unfortunately is probably true is many/most cases. |
| Posted by: phil_b 2010-06-10 20:01 |
| #20 I agree that ADD/ADHD should not be included with autism unless it's found that, like depression and anxiety, they are different expressions of the same problem. What did your new therapist do (aside from a correct diagnosis)? Spot, if you could email me, we can continue this privately. But mostly techniques to manage/preempt anxiety, and finding ways to discover and explain the rules of things. Little things like joining a group in conversation, bigger things like when it's ok to skip a class. (If hospitalized or dead; anything less you tough it out and go to class anyway.) |
| Posted by: trailing wife 2010-06-10 18:36 |
| #19 Good point. Putting ADD/ADHD on the Autism Spectrum would be a mistake (1) as well as disservice to both classes. They are simply not the same. (1) So I guess we can expect Bambi to mandate it to 'improve quality'.... |
| Posted by: CrazyFool 2010-06-10 18:03 |
| #18 Probably gonna get flamed for this, but....in my role as unofficial spokesgirl for everyone with ADD/ADHD, I hope it doesn't end up on the spectrum. There may be some overlap in certain areas, since we are after all talking about ways that not-so-normal brains process information. However, correct me if I'm wrong, but the spectrum disorders all have in common a difficulty in relating emotionally and in use of language. That's not really a problem with ADD/ADHD'ers. What we share is (sometimes) obsessive focus on some minutiae and (sometimes) constant movement. IMNSHO, it's kind of like mumps and measles are both viral infections but they are not the same beast, if ya get where I'm coming from. |
| Posted by: Cornsilk Blondie 2010-06-10 17:13 |
| #17 TW- What did your new therapist do (aside from a correct diagnosis)? Your daughter sounds a lot like my son (although he's only 8). He's been a struggle to care for since he was born and I expect it to continue. |
| Posted by: Spot 2010-06-10 16:28 |
| #16 ADD/ADHD being in the spectrum is still being talked about, but it will end up being there. The medications, symptoms, and teaching techniques have too much overlap not to. They are on the light end of the spectrum. Also, there is resistance due to political correctness and denial by therapists and parents. Give them time. |
| Posted by: gorb 2010-06-10 14:12 |
| #15 ADD/ADHD is not considered on the spectrum, Cornsilk Blondie. However, it apparently is a common misdiagnosis in high-functioning cases, and a significant additional problem for many others, along with anxiety, depression, and OCD or OC behavior. |
| Posted by: trailing wife 2010-06-10 13:50 |
| #14 ADD/ADHD is considered to be on the spectrum now? Since when? I know that sometimes people on the spectrum originally start out with a ADD/ADHD diagnosis that doesn't quite fit, but this is news to lil' ol' hyperactive me. (I always thought there were other "markers", if you will, for ADD/ADHD. It is linked to a family tendency to get eczema and asthma/allergies, but I had never heard of a correlation with autism.) |
| Posted by: Cornsilk Blondie 2010-06-10 13:34 |
| #13 Hmm.. I have two autistic kids. One of which is borderline but appeared much worse when he was about 2-3. My other son is turning 4 and is still not talking much. However he can turn on the computer, logon, access his favorite website and play games - all on his own. My wife works with them every single day. Parenting helps - it takes a lot of effort and time. Autism Spectrum Disorder can range from the slightly 'delayed' to the serious banging-his-head-against-the-wall-for-hours - it covers a wide area (that's where the 'spectrum' comes from). This is what was explained to me by the Doctor when my second son was diagnosed. Sometimes I think it may be over-diagnosed. On the other hand I wonder if perhaps it simply wasn't 'seen'. Is it because its occurring more - or only because its being detected more often? I don't think its 'retardation' but inability to express or tolerate. It isn't the CPU/Mainboard that's failing but the IO Channel :). |
| Posted by: CrazyFool 2010-06-10 13:01 |
| #12 she doesn't flap her ears This one I'll have to see for myself! :-) |
| Posted by: gorb 2010-06-10 12:53 |
| #11 Y'all might be interesting in Not My Boy, by football quarterback Rodney Peete. He has four children, the first two twins -- a boy and a girl. The boy showed symptoms of autism at the age of two, his sister and younger brothers are normal. What's causing an increase in the disorder? I suspect a good piece of that is likely an artifact of diagnosis, and working with the children instead of immediately institutionalizing them for retardation. Also, it is a spectrum, and more nerds who don't make the cut-off are marrying and having children, as well as the later marriage thingy (thanks, ed!). Also, life is more demanding on all levels nowadays; back in the day a boy who didn't have the skills could get a job wielding a shovel, a girl who didn't have the skills could become a housemaid, and no one would know or care that a genius had been lost to humanity, or that with some training they could have functioned at a much higher level. |
| Posted by: trailing wife 2010-06-10 12:45 |
| #10 Google "autistic brain scan" to see the images for yourselves. And "Temple Grandin", aka Professor Grandin, PhD (four of them, the last time I looked), who writes about nearly being institutionalized in the '50s for retardation, and what it's like to grow up as one kind of high functioning autistic. Her mother intuitively understood how to help her become functional, and fought husband, doctors, and society to make it happen. I have a daughter with high functioning Asperger's Syndrome, so high functioning that we didn't realize there was a problem until she was fourteen. We didn't get a diagnosis until her senior year of high school, partly because the treatment for the interim diagnosis of ADHD appeared to help, partly because only the fourth therapist who worked with her had the knowledge to recognize Asperger's. Fortunately, many of the things that are recommended to ameliorate the functional difficulties of Asperger's were things we had already been doing to offset the challenges of changing countries/cultures/languages. Perhaps otherwise she might have been diagnosed earlier. Despite all that, my borderline genius, National Merit scholar child needed serious help to graduate from high school, despite having no trouble mastering the material, and will likely take more than four years to finish college. Had it not been for the fortuitous change of therapists (the previous one took a job out of state), she never would have been diagnosed at all, even in these enlightened times. Instead, she would have been at best a high school drop-out, and most likely dead by her own hand. Everyone would have talked about "all that wasted potential." She has been writing and illustrating exquisite stories since the age of three, always had a close circle of friends, dresses much more stylishly than I, adored her teachers, and except for a brief period in elementary school, was never bullied. Unlike the stereotype, she looks neither nerdy nor uncoordinated, she doesn't flap her ears or spin in circles, she doesn't speak out or move around inappropriately in class. She never would have been classed as mentally retarded in the old days, just a lazy under-achiever, although she works harder for her achievements than anyone I've ever seen. |
| Posted by: trailing wife 2010-06-10 12:25 |
| #9 Gorb is right on according to my experience. My nephew, a friend's child, and working with several autistic kids in the classroom shows it presents as a behavioral problem but it is not under their conscious control, for whatever reason. It is so very embarassing to have a child act-out in public or hurtful to have them bullied and shunned by their peers when many do not understand the disorder. Good parenting that seeks out helpful strategies helps everyone deal with them, but bad parenting is not the cause. The question I have is what is causing the genetic mutations that are obviously increasing? Ingestion of drugs, legal or otherwise, environmental toxins, nutritional deficiencies? It also seems to be transmitted by the Y chromosome or at least recessive for the females as it is gender dominant. Is it increasing mostly in the US, the West, or are the statistics true worldwide? I'm glad they are actually putting $$$ to good use when so much has been wasted lately on boondoggles. |
| Posted by: Lumpy Elmoluck5091 2010-06-10 12:17 |
| #8 Autism Risk Rises With Age Of Father i.e. Father's accumulated genetic damage. Children of fathers who were 15 to 29 years of age had a risk of about six in 10,000 of developing autism. Children of fathers in their thirties had a risk of nine in 10,000. Children of fathers in their forties had a risk of 32 in 10,000, and children of fathers who were older than 50 had a risk of 52 in 10,000. Similarly Down's Syndrome rises w/ age of mother. Both sexes are having children later. |
| Posted by: ed 2010-06-10 12:07 |
| #7 Some people are built different. There is no denying that. Period. It should be mentioned that there is a difference between the medical definition of and the sociatal catch-phrase. It could be that with the increasing specialization of human behavior that such created beings take more noticed time out of what we are tought, naturally, is a person'a role. I also wonder how many people throughout history have accomplished amazing feats who, if sitting on a patio sharing iced tea with would be difficult to hold a normal conversation with. As AH9418 states, some people push the envelope and can surf on their own, others need more encouragement. Those blessed by good parenting can make it, and some need more assistance than others, and there are the jackasses opportunists who would leach off of others to further themselves. If I had to make a pop culture reference, think Star Treck TNG where LaForge's visor techonology saves an entire planet where if he had been born there he would have been aborted before birth. Now, there is the concept. Expand, that visor technology wasn't just created, the parable is that Laforge represents the sum total of all parents throughout human history who cared for those who needed a bit more attention and made everyone better for it. It is still important to note that there is an assault on science at this point where the traditional idea is hijacked for political purposes and I would rather roll the dice if you will with my future children possibly needed more attention than the one I have than have a embryonic test telling me whats what. Be prepared, yes; told by law my child will be coddled or else, no. My kids will be better than a diagnosis even if the diagnosis does point us in the right direction. |
| Posted by: swksvolFF 2010-06-10 11:31 |
| #6 This contradicts the extensive studies conducted by Dr. Jenny McCarthy and Dr. Deirdre Imus |
| Posted by: Frank G 2010-06-10 10:27 |
| #5 Autism is increasing. Ask anyone in the Special Ed department of any school. The major indicator of this is that the cases of extreme autism have gone through the roof. Those cannot be mis-diagnosed. It has nothing to do with parenting. Something is wrong with the brains of these children. There are things that you take for granted that these kids just can't do. Speech, social rules, coordination, all the things that are associated with nerds. Either sections of the are missing, or communication pathways that should look like a superhighway end up looking like a straw, or processing in that section is diminished. This phenomenon is clearly visible on some of the real-time brain-scans. Diagnosing autism is no longer an art. It is a science, but no science is needed to recognize autism. These effects are recognizable beginning after about 18 months of life. Things like speech for example. What kind of parenting style or chosen behavior could possibly interfere with the development of speech? I know you could point at extreme examples, but those are one-in-a-million. The incidence of autism has grown from 1/10,000 to 1/100. That's a 100-fold increase, one of which is my son. Boys get hit about 3x worse than girls, and the ratio has remained consistent. My daughter is perfectly normal and she has been raised under the same parents and parenting style. It's an inherited genetic trait because the parents tend to have autistic traits, only they are more subtle. Something in the environment or social behavior that affects these genes is causing them to run amok. If you believe that autism is a result of parenting or chosen behavior, forget about it. You are heading down the wrong path. You'd benefit from a bit of exposure to parents of kids, and kids, affected by the disorder. If you think autism is a gimmick, that's not the case either. I can imagine how it may seem to be the case to those who do not understand the spectral nature of autism, or dismissive of the idea that scientific understanding of autism and therefore response has developed. You must add to your perspective the concept that just because some guy 60 years ago proposed a tentative definition of something doesn't mean that the definition is required to remain immutable. It was just a first-pass guess. Scientists have it down pretty well today, and still have a ways to go. Autism today includes the extreme cases (as originally studied) as well as ADHD, ADD, PDD, PDD-NOS and Aspergers. And they are right to include every one of them. You might also include nerds and people who have other parts of their brain that are not able to fully contribute to processing for whatever reason, and you would be right to do so, but at some point you have to draw the line. The line drawn for autism has morphed to include those who have learning problems that respond to certain families of training or teaching techniques, and that is perfectly reasonable. If parents see that their kids respond well to the techniques used to treat known autistics, they are going to want to have their kids put in that class. The kids who do not respond well to these techniques, like those with retardation, are going to have to be categorized differently. Superimposed on this natural expansion through understanding is the problem that the incidence of autism is truly increasing. Don't let that confuse you into thinking it is a gimmick. All of these kids show many of the same behavioral patterns, such as perseverence on a repeated task, parallel vs. joint play, lack of understanding or even perception of social rules, problems with receptive and/or expressive language, attention span, and a few other well-recognized traits that are all common in a spectral-sort-of-way. |
| Posted by: gorb 2010-06-10 10:24 |
| #4 All human behavior has a genetic, physiologic and biochemical basis. Certainly there are also many behaviors under the control/responsibility of the individual. Determining what lies outside an individual's control has often been difficult, and the ability to describe/model human mental processes in a useful way has only just started. So, define just how one of Albert Einstein's thought experiments differs from an hallucination of his schizophrenic son Eduard. How does telling a lie differ from telling something you are innocently wrong in believing? There are also social & economic motivations behind autism advocacy organizations. Think of all the grants, research fellowships, special teacher certifications and budgetary demands on school systems that will result. |
| Posted by: Anguper Hupomosing9418 2010-06-10 09:49 |
| #3 Autism seems to be an umbrella cause that was formerly known as (G)ARC,Fill in your Geographic location Association for Retarded Children. Sort of like the March of Dimes, which was originally the National Foundation for Infantile Paralysis, they changed their name to broaden their market, polio having been conquered and retardation being something that happened to others. That is why we are bombarded by ads telling how 1 in 100 children is born with autism. It's an ordinary disease that can strike anyone, even your children. And in order to reach these numbers, Autism Spectrum Disorder has been expanded to cover all sorts of behavior that are not simply classic retardation, but behaviors generally thought to be under the control or the responsibility of the individual. The same way when polio was conquered the March of Dimes decided not to disband, but to redirect their fund raising machine to address the biggest area of medical problems least likely to be solved with the greatest market appeal, Birth Defects, so the ARCs have redefined their market as any mental problem related to any child. And so people conclude that autism is not genetic, but behavioural because Autism Speaks has cast its net so broadly. There's a lot of people of all ages with lots of mental problems deriving from lots of causes. To lump them so many together under the term Autism is a marketing gimmick, not descriptive nomenclature. Autism is of a piece with Gaia worshiping Environmentalism, Righteous Cause marketing run amuck. |
| Posted by: Nimble Spemble 2010-06-10 06:57 |
| #2 IMO autism is primarily a behavioural problem and as such doesn't have an underlying genetic/biochemical cause. That statement confuses me, phil_b. Would you expand, please? |
| Posted by: trailing wife 2010-06-10 05:29 |
| #1 "Our research findings point to the fact that the genetic variations that we discovered are actually rare in frequency meaning most individuals with autism are probably genetically unique each having their own genetic form of autism. All this study appears to have found is that people diagnosed with autism have a higher level of a certain type of genetic defect. I'll suggest that there will be a similar correlation with intelligence, height, income and other general characteristics. IMO autism is primarily a behavioural problem and as such doesn't have an underlying genetic/biochemical cause. |
| Posted by: phil_b 2010-06-10 04:39 |