Tag Archives: Autistic Features

Question?: Pdd-nos Checklist

Donna asks…

Autism / Asperger’s Questions?

I strongly suspect my 2 1/2 year old son has some form of Autism. The only thing that makes everybody a little skeptical is that he shows plenty of emotion, imaginative play, and really looks at you when he’s communicating with you.

Now the reasons I think he is Autistic are that he has yet to develop speech, no social play with his age group, stacks or lines up objects, sometimes tiptoe walks among other little things.

Is it possible for a child that has these characteristics to have Autism or even Aspergers?

Currently I live in Mexico and they more reluctant to diagnose you with Autism here and appears they are not as prepared to deal with this disease than we are in the states(I am an American Citizen married to Mexican woman)

What are some effective home therapies that me and my wife can use on my son while we wait for his documents to arrive so we can have him treated in the States?

Thank You

admin answers:

You aren’t going to come by a diagnosis of asperger’s with a speech delay, that isn’t to say that is not what it is, and that could be flushed out later. Still since the DSM-IV states you cannot have a speech delay and asperger’s only really cutting edge docs will give a r/o dx of asperger’s syndrome with a speech delay only not at his age usually, about 4.

YES, its very possible to have some features of autism, some typical features, and even some asperger features. This has a diagnosis of its own, called PDD.NOS (pervasive developmental delay not otherwise specified. It’s atypical autism, or autistic features.

I remember being confused about the PDD.NOS diagnosis, as I watched my 2 yr old son in the neurologist office feeding a baby while talking on the room phone (that’s a lot of pretend play going on for an autistic kid, or so I thought). He also lined toys up at that age.

Here is a great indicator as to where your son is falling on the spectrum:
http://www.childbrain.com/pddassess.html

Try to make his repetitive play functional. Try to elaborate it. Set up 1:1 playdates. Look into educating yourself on sensory integration. Look at the sensory processing checklist

http://www.asperger.net

For speech, receptive (understanding of language) comes first, so focus on that. Do not use flashcards, they hold little interest to kids of this population, anything 2-D skip. Get the actual object. Ask him to differentiate between 2 common objects. A duck, a ball. Then try to get him to identify the one you are asking for.

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Question?: Pdd-nos

Nancy asks…

Nintendo Wii for 8 year old autistic spectrum son who is good at video games. Good game suggestions?

My son who is 8 has PDD.NOS (autistic features). He is getting the Nintendo Wii for Christmas. He is very good at video games. He has a used xbox, and a used gameboy. This will be his first new gaming system. What games are not frustrating, and not too violent that he will be successful with? Also could you tell me what games are not good and why? Theses games are expensive, I want to make sure the ones we get are worth it.

admin answers:

Okay just so you know I’m not a fan of the Wii, but I know just what games to get for your kid. Here are the names of the games and a link to a video review about each game.

Good Games.
1. Super Mario Galaxy
http://www.gametrailers.com/player/27584.html

2. LEGO Batman, Star Wars, or Indiana Jones (note: buy only one of them)
Batman: http://www.gametrailers.com/player/40780.html
Star Wars: http://www.gametrailers.com/player/27873.html
Indiana Jones: http://www.gametrailers.com/player/34894.html

3. De Blob
http://www.gametrailers.com/player/40935.html

4. Boom Blox
http://www.gametrailers.com/player/33992.html

5. Wario Land: Shake It!
Http://www.g4tv.com/xplay/reviews/1835/Wario_Land_Shake_It.html

Bad Games
1. Don’t buy games that start with Wii in its title even if it comes with something. The game Wii Sports that comes with Wii is fine, but don’t bother getting games like Wii Music and Wii Play.
Http://www.gametrailers.com/player/42242.html

2. Don’t buy games polished by Conspiracy Entertainment. Those games are the worst games on the Wii. So avoid titles like Anubis II, Billy the Wizard, and Ninjabread Man. They may sound fun, but their not. Http://en.wikipedia.org/wiki/Ninjabread_Man (not a review)

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Question?: Asperger Syndrome Quiz

Joseph asks…

How do i know if i have Semantic Pragmatic Disorder or Asbergers?

or autism if i do how can i cure it or treat it can a get any prescription

admin answers:

ASPERGER’S:
Quiz: http://www.rdos.net/eng/ ~~~

The term ‘semantic pragmatic disorder’ has been around for nearly l5 years. Originally it was only used to describe children who were not autistic.

Features it includes are:-

delayed language development
learning to talk by memorising phrases, instead of putting words together freely
repeating phrases out of context, especially snippets remembered from television programmes
muddling up ‘I’ and ‘you’
problems with understanding questions, particularly questions involving ‘how’ and ‘why’
difficulty following conversations
Children with this disorder have problems understanding the meaning of what other people say, and they do not understand how to use speech appropriately themselves.

Soon both research and practical experience yielded two important findings:

Many people who definitely are autistic have this kind of language disorder (Dustin Hoffman’s character Raymond in the film ‘Rainman’ being a typical example).
Most of the children diagnosed as having semantic pragmatic disorder do also have some mild autistic features. For example, they usually have difficulty understanding social situations and expectations, they like to stick fairly rigidly to routines, and they lack imaginative play.
For a while some language therapists maintained there was still an important difference between children with semantic pragmatic disorder and children who were truly autistic. They believed the autistic features seen in children with semantic pragmatic disorder were only a result of their difficulty with language.

However, further research has shown that there is probably a single underlying cognitive impairment which produces both the autistic features and the semantic pragmatic disorder . The fact that children with semantic pragmatic disorder have problems understanding the meaning and significance of events, as well the meaning and significance of speech, seems to bear this out.

Eventually the idea of an autistic continuum was used to explain the situation. All the children on the continuum have semantic pragmatic difficulties, but the degree of their other autistic impairments can be severe or moderate or mild. This parallels the autistic continuum relating Asperger syndrome, where all the children have a marked social impairment but those with Asperger syndrome have only a relatively mild and subtle language impairment.

It seems that children who are diagnosed as having a semantic pragmatic disorder might more accurately be described as high-functioning autistic. Clinicians tend to give all autistic children who have good intelligence the label Asperger syndrome, even if a child actually has very limited speech. But there are important differences between bright autistic children with semantic pragmatic difficulties and bright autistic children with Asperger syndrome. Children with semantic pragmatic difficulties have usually learnt to talk late, whereas (according to diagnostic guidelines) children with Asperger syndrome were able to talk in sentences by the age of three. Also children with semantic pragmatic difficulties do better on performance IQ tests than verbal IQ tests, whereas with children with Asperger syndrome the results tend to be the other way round. However, if a child with semantic pragmatic difficulties eventually becomes a fluent talker, the difference between the labels ‘high functioning autistic’ and ‘ Asperger syndrome’ becomes fairly academic.

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Question?: Pdd-nos Checklist

Mary asks…

Please: Any parents out their with children with adhd and autism?

I forgot to mention she is 5 yrs old in kindergarden
My sister has a child that has ADHD and symptoms of autism( the doc said she doesn’t have autism but has related symptoms) and i was wondering is there anything you did to really help out your child. My sister cries about it on a regular basis because her daughter is mean to other kids(doc said a side effect of kids with extreme adhd).

She did not want to put her on medication but it got to the point where she got kicked out of school every day. So now monday thru friday my sister puts her on meds but not on the weekends. She hates doing this and i really feel bad for her.

Please anybody out there with information to help us out it will be greatly appreciated.

admin answers:

In my experience vyvanese works the best for autistic spectrum kids who are ADD/HD as long as its not bipolar. I am wary of trying meds for my oldest, who is PDD.NOS (autistic features, atypical autism) and ADD. He is 8.5yrs.

My son is not aggressive and he is labile with an incongruent blunted mood, however, with our family history I believe him to be bipolar/PDD not ADD/PDD.

Fm hx:
my mother is bipolar and on a slew of meds
my SIL is bipolar and on a slew of meds
my MIL needs to be on meds (undx bipolar)
husband is bipolar-does not take meds. Has been dx extensively, has paradoxical effect to meds, and goes hypomanic cyclically and when he tries to take Wellbutrin (tricyclic anti-depressant) that is used to try to quit smoking.

I fear my son would go manic/psychotic on alot of the meds out there

A lot of PDD/ADD/HD kids do not fair well on stimulants do to the bipolar features and I can’t understand why so many parents allow their kids to go from 1 stimulant to another, honestly the definition of stupidity is to keep trying the same thing and expecting a different outcome. If a PDD/ADD kid goes psychotic on any one of these adderral, ritalin, concerta, dexedrine, vyvanese, then there is no point in doing a trial on all of them, move to a different class of drugs.

How much sensory integration is she getting? Could be her OT sucks.
Mom needs to carry OT strategies at home.

SPD checklist
http://www.sensory-processing-disorder.com/sensory-processing-disorder-checklist.html

Could be its the wrong med, could be the wrong dx.-she may be bipolar, could be the med dose is below therapeutic range.

Is she getting social skills training at school? She should, my son does. What kinds of accommodations does she have in her IEP? Does she have a break card, point card, weighted vest, pressure vest, core disc, preferential seating, a 1:1 paraprofessional to facilitate appropriate bx with peers?

Medications are totally beneficial and warranted for those that truly need them to function. Dosages are titrated up, this takes time, so they start low in order to adjust to the lowest effective dose.

What Kathy is describing is NOT ADHD, and its commonly diagnosed as ADHD especially in this population. What she describes is CAPD, and it goes hand and hand with the autistic spectrum population. Yes, my son has been diagnosed CAPD too. CAPD is central auditory processing disorder, and the problem is differentiating between foreground and background noise. CAPD is described acutely by Dr. Temple Grandin, an accomplished published entrapreneur autistic woman who has CAPD and there is auditory retraining for this. Meds should not be used for CAPD. Now yes its possible to have an overlap and have CAPD with an attention disorder, but frequently the CAPD is misdiagnosed as an attention disorder.

What helps:
preferential seating, a corral around the desk, an FM system (son uses this too), headphones, testing done with breaks and individually (not just state testing, all testing).

Tomatis training for CAPD
http://www.atotalapproach.com/serv_tomatis.asp

http://www.nidcd.nih.gov/health/voice/auditory.asp
http://www.dr-add.com/framefiles/articles/ADHD,%20Auditory%20Processing%20Disorder%20and%20Learning%20Disabilities.html
http://www.grandin.com/inc/squeeze.html
http://www.autism.com/families/therapy/visual.htm
http://answers.yahoo.com/question/index?qid=20090808005347AAVtelj

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Question?: Autistic Spectrum

William asks…

Are we all potentially autistic? Do people in mental health crises display autistic features?

A well known sign of someone in a crisis and/or having mental health problems is withdrawing and rocking for comfort.

People in a crisis appear to have autistic characteristics, often temporarily or for a period of time.

Does anything think that we’re all somewhere on the autistic spectrum and some of us a more inclined to display more obvious autistic features when under stress?

I suppose a psychiatrist would know. I wonder how many patients they see rocking back and forth. Isn’t that an austic characteristic?

admin answers:

It is a feature of autism and other regressions . It is not a sign of mental health,and healthy people do not do that.
Somethings in mental health are simplyu a matter of degree or intensity………that is not one of them.

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Question?: Autistic Disorder

George asks…

Is it possible to have some autistic features without having an autistic spectrum disorder?

I’ve sometimes suspected that I have Asperger syndrome, so yesterday I took an online assessment that was developed by experts at Cambridge University. I scored a 29, which is above average, but I read that people with Asperger syndrome normally have a score of 35 or above. Is it possible to have autistic features without having Asperger syndrome or any of the other autistic spectrum disorders?
I have actually been diagnosed with ADHD.

admin answers:

Yes I believe you can. Actually, I think many people possess at least some small trait of the autistic type, with the probable exception of hard line extroverts. The funny thing is that when circumstances are going well the traits seem to subside and even disappear.

I am [as you may also be] a borderline case, a mild aspie. Most people dont seem to notice as I can cover it pretty well but when someone does, they just seem to put it down to shyness, awkwardness, strangeness, arrogance and/or lack of social confidence.. Which in some respect I guess it probably is. I however never mention it in my daily life.

I think the key for an aspie to coping well in groups, is to initially stick to talking to one individual at a time. Only once a few have been spoken to [particularly the individuals who others look up to]and a connection made, is it [generally speaking] wise to talk to the group as a whole. The more of a challenge this seems to be the more probable you would be an asperger.

I think part of the problem these days is that when people meet up and socialize, there doesnt seem to be much of an aim or goal other than getting someone into bed. This is fine for social animals. I however would feel much more comfortable in a group when there is a clear task to carry out like hunting, planning a protest and generally anything which requires belief, focus and resolve. In fact, in these situations I actually quite like taking a lead role [my father used to be a navy commander].. Im not sure if this is a feature of classic aspergers.. Sorry about going off on tangents about ME.. I might start to look a little arrogant ..again, sorry.

Getting back to the question, my guess is that you are just about where the test tells you you are. Not aspergic but with some mild features. I have not done that particular test myself, but any one that I have taken I come out almost exactly about the cutoff point [35 in this case].. Although I have to admit some of those tests are a little difficult to do accurately and purely honestly as one can sometimes have the mindset either to prove or disprove that they have it.

As for ADHD I know very little about it. All I know is that when I fell asleep in class I put it down to boring subjects and teachers.. I dont doubt the doctors diagnosis but reckon that aspergers has some similar traits. I only study something if I see it as value and not just for the piece of paper that the college gives me after, if you know what I mean. People with that condition often suffer in the education system, even though they may be very clever. But in the end of the day whatever syndromes and disorders we and others label us with, weve all still got the chance to really succeed, most importantly in our own eyes.

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Question?: Pdd Symptoms

Carol asks…

Does anyone else with an autistic child have issues with them not wanting to write in school?

My son is 7 years old and in the 2nd grade. He has mild symptoms of autism and is over average in all his classes. Lately, his teacher has struggled with getting him to write in his journal, he doesn’t like to write longer than one sentence. Is this a normal symptom of autism? Anyone else have this problem? Any advice on how to coach him on writing?

admin answers:

I can’t understand why mcc has all those thumbs down when the answer is correct, yes its a lack of theory of mind.

Mild autism, high functioning autism, asperger’s syndrome, provincial autism, autistic features, and PDD.NOS are all used interchangeably to describe someone mildly on the autistic spectrum.

My son is in first grade and is 7 years old, he has a dx of PDD.NOS or autistic features. Yes, he struggles with journal writing. We have accomodations in his IEP for this. During journal writing, he can either scribe, or someone prompts him. You could get the journal topic early and do pre-teaching. They remember everything so that won’t be a problem, or you could try to get a 1:1 during journaling time to prompt him. For him to be the most independent, try the pre-teaching first. It is very difficult to retrieve complete thoughts that are related and flow. My son has severe pragmatic issues and writing thoughts that are related is super difficult without prompting. My son has to journal what he did over the weekend. We go over it in the car on the way to school. So I ask him what did you do? He will say watch tv. Ok what did you watch? Have you seen it before? Was it good? Did you eat while watching it? Where did you watch it? With this prompting, he can go into school and write: I watched spiderman I on DVD on Friday night in my room. I ate popcorn. It is a good movie.

Another ex. What did you do? Went to a party. Whose party? Where was it at? What did you eat? I try to tell my son to go through all the
“wh-” questions and answer them when writing. If we don’t rehearse it though, he will write I went to a party. Cake pool present. With rehearsing he can write: I went to a pool party. It is my friend Jonathan. He is 7. We had cake. He opened his presents. He got a car.

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Mice With Dravet Syndrome Mutation Given Low-Dose Sedative Show Improvements In Autism-Like Behavior

Main Category: Autism
Also Included In: Pain / Anesthetics;  Neurology / Neuroscience;  Genetics
Article Date: 24 Aug 2012 – 0:00 PDT Current ratings for:
Mice With Dravet Syndrome Mutation Given Low-Dose Sedative Show Improvements In Autism-Like Behavior
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A low dose of the sedative clonazepam alleviated autistic-like behavior in mice with a mutation that causes Dravet syndrome in humans, University of Washington researchers have shown.

Dravet syndrome is an infant seizure disorder accompanied by developmental delays and behavioral symptoms that include autistic features. It usually originates spontaneously from a gene mutation in an affected child not found in either parent.

Studies of mice with a similar gene mutation are revealing the overly excited brain circuits behind the autistic traits and cognitive impairments common in this condition. The research report appears in Nature. Dr William Catterall, professor and chair of pharmacology at the UW, is the senior author.

Dravet syndrome mutations cause loss-of-function of the human gene called SCN1A. People or mice with two copies of the mutation do not survive infancy; one copy results in major disability and sometimes early death. The mutation causes malformation in one type of sodium ion channels, the tiny pores in nerve cells that produce electrical signals by gating the flow of sodium ions.

The Catteralll lab is studying these defective ion channels and their repercussion on cell-to-cell signaling in the brain. They also are documenting the behavior of mice with this mutation, compared to their unaffected peers. Their findings may help explain how the sporadic gene mutations that cause Dravet syndrome lead to its symptoms of cognitive deficit and autistic behaviors.

The sodium ion channels in question malfunction in specific nerve cells, called inhibitory neurons, whose job is to send messages to hush the electrical signaling of neighboring cells. If only transmissions that excite nearby cells get through, the balance of cell signals that excite or inhibit the brain is seriously tilted toward excessive excitability.

“Imagine New York City traffic without any red lights, just green lights,” said Catterall. This kind of electrical traffic jam might explain the heightened brain state of children with the Dravet mutation. These children suffer from frequent electrical storms, called epileptic seizures, in their brains. They are hyperactive, anxious and have difficulty sleeping. Their problems in learning, remembering and reasoning often follow a downhill course through childhood. The children also show several symptoms of an autistic spectrum disorder, including withdrawing from social interactions, repeated movements, and restricted, intense interests. The brain mechanisms behind this disorder have been poorly understood, Catterall said.

In observing the behavior of mice with the same genetic variation, Catterall and his team saw that they did not display many normal social interactions of mice. Mice are naturally curious about a mouse they haven’t met before, and will approach and sniff it. Sometimes they will attack, wrestle and playfully bite the stranger. Usually mice are more interested in mice they haven’t met before than those they already know. Mice with the Dravet syndrome were not interested in meeting strangers or acknowledging acquaintances, and did not approach them either aggressively or with mild manners. In fact, they froze when confronted with new mice, the scent of male mouse urine, or new food smells like banana oil, which usually attracts mice unfamiliar with the scent.

These altered behaviors suggested that the Dravet mice were unable to have normal social interactions with recently introduced mice and were repelled by new experiences, even new food odors. The Dravet mice also had problems in spatial learning and memory. They were unable to learn and remember the location where fearful events occurred or to learn and remember how to escape a brightly lighted area. In an open field test and maze running comparisons with mice without the mutation, the Dravet mice traveled more, spend less time in the center, and walked in circles. They also groomed themselves and wiped their whiskers excessively.

“Like many children with autism, the mice seemed overwhelmed by changes in their environment and unable to interact socially with other mice,” Catterall said. “They also showed stereotypic movements and repetitive behaviors common in autism.”

His team went on to explore the cellular and biochemical underpinnings of the autism-related traits and spatial learning deficits in the Dravet mutation mice. They tested the hypothesis that the condition arises from decreased activity of particular sodium ion channels in the brain cells that relay inhibitory information to other nerve cells in the forebrain.

They found that the deep layer of the prefrontal cortex of the brain was the most affected by the mutation. Among the core components linking thinking and emotion circuits of the brain are the interneurons. These cells release a neurotransmitter called GABA, a brain chemical signal that inhibits neighboring cells. On the other hand, excitatory nerve cells release a different neurotransmitter that activates neighboring nerve cells. Normally, these excitatory and inhibitory nerve cells balance each other.

The researchers found that the Dravet mutation mice had the normal number of the GABAergic interneurons, the cells that fire a “turn it down” signal to their neighbors. However, a significant percentage of these cells lacked a specific type (type-1 or Nav1.1) of gated sodium channel. This deficit kept these cells from firing enough electrical signals. As a consequence, excitatory signals dominated circuits in critical areas of the brain.

“We reasoned that the decreased in sodium channel activity in these GABAergic interneurons could be rescued by increasing the strength of the GABAergic transmissions,” Catterall said.

His team decided to treat both the normal and the Dravet mutation mice with the benzodiazepine clonazepam. This drug is often given to people suffer from moderate, debilitating anxiety, such as fear of flying. Benzodiazepines also control some forms of epileptic seizures. The researchers lowered the dose to make sure they were not sedating the mice or removing their anxious state.

“The treatment with a single low dose of clonazepam completely alleviated the impaired social interactions of the Dravet mice. It also removed the freezing reaction to novel situations. They were willing to approach mice that were strangers to them and to explore new odors. They behaved just like their peers,” Catterall observed. “This dose of the drug had no effect on the behavior of their normal peers.” The effects of the drug wore off after it cleared completely from the body, which takes a few days in mice.

“The results showed that a single low dose of clonazepam can reversibly rescue core autistic traits and cognitive deficits in mice with the Dravet mutation,” Catterall said. Additional measurements of cell firing in brain tissues from affected mice showed that the behavioral effects were likely based on decreased strength of the inhibitory signals, which caused an overall increase in brain electrical signaling by releasing the restraint on excitatory neurons. Their research also suggested that the cognitive and behavioral impairments in Dravet syndrome are not the result of damage from epileptic seizures, but are due to an innate shortage of a certain type of sodium ion channel and the resulting failure of inhibitory electrical signaling.

Catterall added that the research indicates that low-dose benzodiazepine treatment could be a potential drug intervention for cognitive deficits and autistic symptoms in Dravet syndrome patients, if clinical trials show they are effective in humans, and perhaps more broadly in certain other types of autism spectrum disorders.

“Interestingly, mutations in many other autism spectrum disorders also cause an imbalance of excitatory over inhibitory electrical activity in the brain,” the research team noted. Perhaps autistic traits in some other conditions within the realm of autism spectrum disorders might also be caused by a reduction in GABAergic signaling between brain cells.

Dravet syndrome is not the only genetic disorder that has autistic traits accompanying other physical and developmental disabilities. Rett, fragile X, and Timothy syndromes also have autistic features.

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our autism section for the latest news on this subject. The study was supported by grants from the National Institutes of Health R01NS25704, R01MH075016, and R37MHO49428 and from the McKnight Foundation. This research was part of the doctoral research of Dr. Sung Han, now a postdoctoral fellow at UW, and involved scientists at the University of California at San Francisco and Seoul National University in Korea.
University of Washington Please use one of the following formats to cite this article in your essay, paper or report:

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26 Aug. 2012. APA

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‘Mice With Dravet Syndrome Mutation Given Low-Dose Sedative Show Improvements In Autism-Like Behavior’

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Boys More Affected By Mutations In Autism Susceptibility Gene

Main Category: Autism
Also Included In: Genetics;  Men’s Health
Article Date: 15 Jul 2012 – 0:00 PDT Current ratings for:
Boys More Affected By Mutations In Autism Susceptibility Gene
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Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

Mutations in the AFF2 gene, and other genes like it on the X chromosome, may explain why autism spectrum disorders affect four times as many boys as girls.

The mutations in AFF2 appeared in 2.5 percent (5 out of 202) boys with an ASD. Mutations in X chromosome genes only affect boys, who have one X chromosome. Girls have a second copy of the gene that can compensate.

The results were published in the journal Human Molecular Genetics.

“Our data suggest that AFF2 could be one of the major X-linked risk factors for ASD’s,” says senior author Michael Zwick, PhD, assistant professor of human genetics at Emory University School of Medicine.

The finding bolsters a growing consensus among geneticists that rare variants in many different genes contribute significantly to risk for autism spectrum disorders.

The mutations in the AFF2 gene probably do not cause ASDs all by themselves, Zwick says.

“We do not think that the variants we have identified are monogenic causes of autism,” he says. “Our data does support the idea that this is an autism susceptibility gene.”

In some situations, mutations in a single gene are enough by themselves to lead to a neurodevelopmental disorder with autistic features, such as fragile X syndrome or tuberous sclerosis complex. But these types of mutations are thought to account for a small number of ASD cases.

Recent large-scale genetic studies of autism spectrum disorders have identified several “rare variants” that sharply increase ASD risk. Scientists believe rare variants could explain up to 15 or 20 percent of ASD cases. However, until now no single variant has been found in more than one percent of ASD cases.

Working with Zwick, postdoctoral fellow Kajari Mondal and her colleagues read the sequence of the AFF2 gene in DNA from 202 boys diagnosed with autism spectrum disorders. The patient samples came from the Autism Genetic Resource Exchange and the Simons Simplex Collection.

Tests showed that in four cases, the affected boys had inherited the risk-conferring mutations from their mothers. One boy had a “de novo” (not coming from the parents) mutation. Compared with X-linked genes in unaffected people, mutations in AFF2 were five times more abundant in the boys with ASDs.

The AFF2 gene had already been identified as responsible for a rare inherited form of intellectual disability with autistic features. This effect is seen when the AFF2 gene is deleted or silenced completely.

AFF2 has some similarity to FMR1, the gene responsible for fragile X syndrome. Like FMR1, it can be silenced by a triplet repeat. In these cases, the presence of the triplet repeat (three genetic bases repeated dozens of times) triggers a change in chromosomal structure that prevents the gene from being turned on.

In contrast, the mutations Zwick’s team found are more subtle, slightly changing the sequence of the protein AFF2 encodes. Little is known about the precise function of the AFF2 protein. A related gene in fruit flies called lilliputian also appears to regulate the development of neurons.

Zwick says one of his laboratory’s projects is to learn more about the function of the AFF2 gene, and to probe how the mutations identified by his team affect the function. His team is also working on gauging the extent to which other genes on the X chromosome contribute to autism risk.

Article adapted by Medical News Today from original press release. Click ‘references’ tab above for source.
Visit our autism section for the latest news on this subject. The research was supported by the National Institute of Mental Health (MH076439) and the Simons Foundation Autism Research Initiative.
Reference: K. Mondal, D. Ramachandran, V.C. Patel, K.R. Hagen, P. Bose, D.J. Cutler and M.E. Zwick. Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. Hum. Mol. Genet. Advance access. (2012). doi: 10.1093/hmg/dds267
Emory University Please use one of the following formats to cite this article in your essay, paper or report:

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Emory University. “Boys More Affected By Mutations In Autism Susceptibility Gene.” Medical News Today. MediLexicon, Intl., 15 Jul. 2012. Web.
15 Jul. 2012. APA

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‘Boys More Affected By Mutations In Autism Susceptibility Gene’

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Note: Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. For more information, please read our terms and conditions.


View the original article here