Tag Archives: Neurologist

Maternal Antibodies Linked to Autism

Some children with autism are born to mothers carrying antibodies that bind to proteins involved in brain development.
By Ed Yong | July 9, 2013 http://www.the-scientist.com/?articles.view/articleNo/36379/title/Maternal-Antibodies-Linked-to-Autism/

In 2008, Judy van de Water from the University of California, Davis, discovered a group of autoantibodies—those that trigger immune responses against the body’s own molecules—that are especially common in mothers of children with autism. Now, her team has identified what these antibodies bind to: six proteins involved in varied aspects of brain development. By crossing the placenta and affecting these proteins in a fetus’s brain, the maternal antibodies could increase the risk of developmental problems in some cases of autism, according to the new research, published today (July 9) in Translational Psychiatry.

“I cannot laud these authors enough,” said Andrew Zimmerman, a neurologist from the Kennedy Krieger Institute, who has also been studying maternal antibodies but was not involved in this study. “Given that, at present, only between 15 and 20 percent of children with autism have known causes—mainly genetic and infectious mechanisms—this will be a major advance.”

Van de Water’s team, led by graduate student Dan Braunschweig, is now using their discovery to develop a test that predicts a child’s risk of developing autism spectrum disorders based on the mother’s antibodies. “It would allow mothers to plan,” said van de Water, by enrolling their children in educational programs that promote social skills from an early age.

The antibody hypothesis would only apply to a quarter of autism cases at most, but van de Water said that it is valuable for affected parents to get some clues about the biology behind their children’s condition. “It provides some answers,” she said. “They couldn’t have done anything about this—it’s not like they did anything to cause the antibodies. But as a parent, you just want to know what happened so you can move forward.”

The proteins that the team identified have a wide variety of roles. STIP1 influences the creation of new neurons, for example, while cypin affects the number of branches they have. CRMP1 and CRMP2 stop neurons from growing and determine their length. YBX1 is involved in gene transcription, as well as neural migration during development. Finally, LDH is the most mysterious of the sextet but is also the most strongly linked to autism. Earlier studies suggest that it may play a role in metabolism or in responses to viruses or toxins.

All six are highly expressed in the fetal brain. Of 246 mothers with children living with autism, 23 percent had antibodies that recognized two or more of these proteins, compared to just 1 percent of 149 mothers with normally developing children. The antibodies have more than 99 percent specificity for autism risk, which means that they have less than a 1 in a 100 chance of finding a false positive.

Meanwhile, the team’s colleagues Melissa Bauman and David Amaral, also from UC Davis, injected eight pregnant rhesus monkeys with antibodies purified from mothers with autistic children. These monkeys were more protective towards their young during their first 6 months, compared to those that were injected with antibodies from women with neuro-typical children. As the young monkeys grew up, they showed unusual social behavior: compared to typical macaques, they were more likely to approach both familiar peers and strangers, even when their advances weren’t rewarded with sustained social interactions.

“Moving this to monkeys is a big step,” said Paul Patterson, a neuroimmunologist from the California Institute of Technology, who was not involved in the work. “This very careful behavioral study shows that at least some of the antibodies do have an effect on fetal brain development.”

Betty Diamond, an immunologist at the Feinstein Institute for Medical Research, agrees the studies represent “an important step forward.” However, she noted that antibodies often bind to many possible targets, and the proteins that the team identified may not be the relevant ones. She also said that some of the alleged target proteins are found within cells, “and it is not clear how or whether the antibodies can penetrate developing neurons.”

Zimmerman added, “Much work remains to be done to show how these antibodies are relevant, how they affect fetal brain development, and what factors lead some mothers to develop these antibodies.”

The team is now working to address these issues, trying to identify the specific parts of the six proteins that the antibodies stick to, determine how they affect the developing brain, and understand how they might be used to predict autism risk. Van de Water and Amaral are consulting for Pediatric Bioscience, which is creating a predictive test based on the results.

“The next step is to come up with a therapeutic to block the antibodies—not just to pick them up, but to do something about it,” said van der Water. Although the concept of preventing autism can be controversial, she points out that her panel of antibodies seem to correlate with the most severe symptoms and language problems.

Still, she is treading cautiously. “The parents have been surprisingly supportive,” she said. “But the autism field has been fraught with false alarms, so we want to be really careful.”

D. Braunschweig et al., “Autism-specific maternal autoantibodies recognize critical proteins in developing brain,” Translational Psychiatry, 3:e277, 2013.

M.D. Bauman et al., “Maternal antibodies from mothers of children with autism alter brain growth and social behaviour development in the rhesus monkey,” Translational Psychiatry, 3:e278, 2013.

Clarification (July 10): This story has been updated from its original version, which included this quote in relation to a potential test: “If it’s positive, their risk is virtually 100 percent”. With a 99 percent specificity for autism risk, such a test would still return false positives for 1 percent of the non-autistic population.

Our thanks the the-scientist.com for this article.

Question?: Rett Syndrome Causes

Sandy asks…

Is my baby just delayed, or is something wrong?

Hi, my daughter will be eleven months old on the 30’th, and she can’t crawl, sit up from a lying position, walk, pull herself up to standing position, or stand at all on her own. All she can do is roll around and sit up (when I sit her up). She can stand with help. She has just started eating a little harder foods like puffs and toast, and just mastered the pincer grasp. I am worried about her large motor skill development though. Is she just a late bloomer, or do you think something may be wrong?

admin answers:

Well, yes she’s definitely delayed but the thing you have to worry about is the cause of the delays. You need to take her to a neurologist and geneticist to investigate the cause. My daughter had the same problems…she turned out to have Rett Syndrome. I’m not trying to scare you, there are a lot of possible causes.. Some severe, some not so severe. If it was just motor problems from hypotonia (low muscle tone) I would not be too worried but she seems to have other delays that would indicate global developmental delays meaning possibly a larger problem. It may be just mild cerebral palsy and she will eventually catch up but definitely get her checked out to rule out other things. Also make sure they test for Rett Syndrome…my daughter has this and it is commonly misdiagnosed as other things. Best of luck to you and I hope you find the cause.

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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:

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


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?: Treatment For Autism In Adults

Lizzie asks…

I like to learn about autism, adhd, tourettes and trichotillomania. What is a good major/career choice for me?

Career fields/majors in helping children/adults with autism, adhd, tourettes etc. Not teaching them. Counseloring maybe.

admin answers:

This really depends on how you want to help them, through treatment or research. If you are interested in research, major in neurobiology, biology, or neurology.
Or, if you are interested in treatment, you can major in a couple of things. If you want to become a neurologist or pediatric psychiatrist, you will need to major in pre-med. If you want to become a neuropsychologist or child psychologist, you will need to major in psychology or developmental psychology (you can specialize in neuropsych now or in grad school).
Any of these career choices would be appropriate.

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Question?: Asperger Syndrome Quiz

Richard asks…

how do you know if you have asperger syndrome?

is there a real good quiz on it on the internet? is there any way to find out?

admin answers:

This quiz http://www.rdos.net/eng/Aspie-quiz.php is very detailed and can give you a good indication, but it’s not the same as a diagnosis. The only way to know for sure you have Asperger’s is to be evaluated by a specialist. If you want to be diagnosed, you will need to see a psychologist, psychiatrist, or neurologist who specializes in autism spectrum disorders. Your GP should be able to refer you to someone.

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Question?: Treatment For Autism Spectrum Disorder In Children

Lizzie asks…

Can you have PDD-NOS and not be on the autism spectrum?

Our son has a huge line-up of testing that is scheduled to be done, but the neurologist said that he more than likely has PDD-NOS. Our speech therapist said that PDD isn’t autism, it’s just a delay, is that true? I thought they both go hand in hand.

admin answers:

In short no.

PDD-NOS is on the autism spectrum, it is NOT classic autism, but it is still an ASD- Autism Spectrum Disorder.

Long answer-

Your son might end up with a provisional diagnoses of PDD-NOS- meaning they will diagnose him with that, but then later might drop it. Its very difficult especially at a young age to properly diagnose a child if they have classic autism, or Aspbergers, or a general developmental problem. It can take years for them to know for sure what your son has- but it doesn’t change what type of help he is going to need, however for most state/school programs as well as insurance cases, they need some form of diagnoses to pay for speech/occupational therapy whatever they determine he needs. Because the treatment plan decided on will be individual to your son, it doesn’t really matter what “label” he has as long as he is getting the help he needs.

The name PDD-NOS literally means- Pervasive Developmental Disorder- Not Otherwise Specified, meaning they just don’t have enough data to decided how to specify it. While he has the diagnoses of PDD-NOS he is considered to be on the autism spectrum- however in time they may decided it was a general delay and he won’t be considered on the spectrum anymore.

Right now, my son, has just gone through a bunch of tests, and has a couple more lined up in the fall. He has PDD-NOS, but they feel he will end up being either classic autism or Asbergers, or even OCD (obsessive-compulsive disorder) but right now he shows signs of all three, so they aren’t sure which he has. His neurologist describes it this way- when a plant is very small, sometimes you aren’t sure what type of flower is going to grow on it, however once it blooms it is obvious what kind of plant it was- but it doesn’t change that it is a plant. Meaning my son has something, we aren’t sure what, but it doesn’t change the fact he has something. The main concern is how do you help him get better.

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Question?: Treatment For Autism In Toddlers

Richard asks…

Autism question: young toddler already showing signs?

I have a young toddler showing some signs of autism already. The pediatrician has brought it up briefly and will prob setup some sort of screening test for it soon. I believe if he has it its not at the highest level.

I personally don’t know a ton about Autism, are there different levels of Autism?

Can it get worse or better with therapy?

What causes Autism and is there any medication to help in the future?

I always thought Autism was another name for a learning disability.

admin answers:

There are definitely different levels of autism. It can range from severe autism all the way to some simple learning disabilities. My son was diagnosed with PDD NOS at age 2, which is a mild form of autism. He basically has speech delays and some “quirks” in his personality as we call it.

The sooner your child is diagnosed and starts therapy, the better they will do later on. I highly recommend asking your pediatrician for a referral to a developmental pediatrician or neurologist. There is testing they can do (even at young ages) to see if your child falls on the autism spectrum, and then will recommend therapies/treatments.

Therapy definitely helps immensely. I have several friends who had mildly autistic children, and with intensive therapy, the no longer carry a diagnosis of autism. Its possible to overcome mild cases, or the diagnosis will change to something like ADD, etc.

There is no known cause for autism, but is mainly thought to be either genetic. Depending on what your child’s issues are, there are some medications out there that can help.

Like I said, I highly recommend getting your child evaluated by a developmental pediatrician or neurologist ASAP. I wish you the best of luck!!

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Question?: Autism Symptoms In Adults Checklist

Chris asks…

Do I have high-functioning autism or low functioning?

I am 21 years old and have been experiencing problems fitting into the social norms of society. I have the exact symptoms of aspergers and low functioning autism. I have specific interests and only like to talk about what im interested in. I have no social skills so I fail interviews. Never have the right word for the right situation I feel like a child in an adult body. I understand adult subjects such as algebra, physics, and am into strange science such as antigravity and and am into electronics and lasers and atoms all science and think about those things constantly. I am seeing a neurologist he claims I dont have aspergers or he doesnt think I have it because aspergers is diagnosed at a earlier age, but I have had these symptoms my whole life. Since I was 4 my mom says I was different and I matched every single symptom on the asperger or autism checklist for children, I just was not diagnosed, and I feel different than everyone. At my temp jobs I am quiet unless it’s about what I am interested in otherwise I dont talk. I feel I dont have a high iq because I failed the asvab I took at meps and also didnt do too well on an iq test on the internet one was phd certified and one was on the mensa website. Also after highschool I was unemployed for a year then worked for 6 months then was unemployed for a year and a half and I was isolated and didnt interact with people because I do not connect well with people I am socially awkward so my memory isnt what it used to be and am only able to get jobs through a temp service because I fail interviews. So my question is despite all of my specialized interests, do people with aspergers have memory problems? or since I have trouble retaining info and feel I dont have a high or average iq, do I have low functioning autism? Sorry for such a long descriptive story and sorry for not keeping it concise. I hope hope someone has a helpful opinion.

admin answers:

My daughter has autism and she does not have a memory problem per say she is social different as you wrote and she has certain things that she excels at things that interest her if the doctor said you did not have aspergers and you feel you are wrongly diagnosed go to another doctor get a second opinion only a doctor can diagnose you

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Question?: What Is Autism Speaks

Maria asks…

What are the benefits of having a Communications degree?

I want to study Medicine and possibly become a Neurologist and work with a nonprofit organization such as Autism Speaks. I love public speaking and my Fundamental of Speech professor who is the head of the Communications department told me I should minor in Communications because of how “natural” I am speaking in public. I have always wanted to get a dual major so I am thinking about working towards a B.A. in Communications degree while working on my B.A. in Biomedical Sciences degree. What are the benefits of a Communications degree?

admin answers:

Maybe your communication skills would be even better than now. After all, it is a fundamental tool that everybody needs in the work place. Just don’t major in it though because it is just going to take time away from your science degreee (which could end up lowering your grades). Get a minor instead. Having high grades is one of the big things for getting into a great medical school.

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Question?: Asperger Syndrome Quiz

Helen asks…

Am i an asperger and how can i learn it?

Hi, first of all i am asking this here because i cant get good help at my city. I have been able to read and write at 2 and am showing several symptoms of asperger‘s syndrome. So how can i learn it by using internet?

Thanks everone.

admin answers:

I’m not entirely sure what you’re trying to ask. Do you want to learn more about Asperger’s? Are you looking for a diagnosis? I agree with Pilot that http://www.rdos.net/eng/Aspie-quiz.php is the best Asperger’s test. It’s not the same as an official diagnosis, but it is very detailed and can give you an indication of whether or not you have Asperger’s. At the very least, you’ll develop a better understanding of Asperger’s. Here are a few other sites:
http://www.webmd.com/brain/autism/tc/aspergers-syndrome-topic-overview http://www.wrongplanet.net

Plus, you can always try Googling it and see what you find. If you want to be evaluated for Asperger’s, you’ll need to see a psychologist, psychiatrist, or neurologist who specializes in autism spectrum disorders. Your regular doctor should be able to refer you to someone.

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