Tag Archives: Genetic Test

Question?: Autism Symptoms In 7 Year Old

Helen asks…

7 year old assumed to have autism then pervasive developmental and then aspergers?

7 year old assumed to have autism pervasive developmental and aspergers?
for 6 1/2 years my son was assumed to have these three illnesses.but when a genetic test was performed it disclosed no fragile x and normal chromosones.so when i called back to the pediatric neurologist from 5 years ago (July,2006) who said my son had autism and fragile x within a 10 minute hospital visit I was confused from what the genetic counselor 2 days ago.He was also told to have pdd( May2009)and August 2011 while in the psychiatric unit was said to aspergers.But from the genetic counselor I was told you have a normal child with a behavior problem that he might have inherited a gene from his father But because of your insurance limitation we cant further research because it will cost thousands of dollars so lets call it the last name aspergers’s.Then the pediatrician from the same hospital said well your son’s behavior is out of my league let’s call it autism spectrum disorder dont waste your money spending thousands of dollars to do further research.I don’t know what to as a mother who has tried every medication every early child intervention,4 public schools 2 0 3 psychiatrists and psychologists.The genetic counselor said well you didn’t know what the cards were going to deal me because I was a rape victim by this child father 2 times while was conceived and when the child was 4 years old .the father found out where I lived at.I explained to the genetic counselor what I seen in the 52 years old I also see in the child.even him resembling the father.I’m 37 years old and dont know what to do.I dont know what to call what my son has I dont like sugar coating.
1 day ago- 3 days left to answer.
Additional Details
My son will be 8 in Nov. he was classified individually by different doctors for autism ,aspergers and pdd.I only see one symptom of that is behavior.His MRI in August 2011 came back normal.
He has normal set of chromosones and no fragile x.I dont see a sensory problem.I’m trying to explain this to the schools from the genetic doctors results.I could have said nothing of the results,but I did .I feel I have to lie about the truth vs the untruth.
18 hours ago
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BN you heard my cry here.I have tried to talk to American psychological association.They act like they are stumped by my question of autism.Even the school psychologist at the board of education brushed me off by saying what is I can do for you.Then I called the doctor today who said Pdd 2/12 years ago he claim he forgot what he diagnosed him with.then the pediatric neurologist keep putting her nurse on the phone to explain fragile x when there no fragile x in his genetic test.I got a feeling these think I am going to SUE THEM.I even called a church for the right direction to go!! My heart is broken .I have advocated for something that may not exist.
Medicaid is what I have for my son.That’s why no further testing can be done.So I was told just call it aspegers by the genetic doctor or autism by the pediatrician.

admin answers:

The label may not really matter, what does matter is that your son receives treatment that does fit his needs and I’d check to make sure they ran the CORRECT Fragile X test (in that case the label DOES matter with the advances being made in research, the health conditions associated with fragile X and how you work with a child with FX, i.e., one should never force eye contact). Many neurologist still run a chromosome or micorarray analysis to test for FX and those tests are not reliable, too many false negatives. If they ran the correct test they should have given you CGG repeats – if they didn’t then I’d retest him using the FMR1 DNA test (aka Southern Blot with PCR analysis). There is a very active FB group the Fragile X Files, that you may be interested in, you may find additional support for dealing with behavior. I recommend the resource below, the columns are excellent I’d also recommend following some of the clinical trials associated with Fragile X and Autism on a new med STX209 (Arbaclofen) it may be out on the market within a year or two.

Please feel free to connect with me directly if you like. (((Hugs)))

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Question?: Rett Syndrome Treatment

Joseph asks…

Is autism genetic? I just saw it on the news.?

I just saw a blip on the news that the most recent study has revealed that it is a genetic disease. The scientists are happy because now they can work on a medicine to cure it? Please tell me if this is true.

admin answers:

I think you may be talking about the study on Rett Syndrome which is in the autistic spectrum. RS was found to be genetic in ’99 and there is actually a genetic test for it (my daughter has RS). It is believed that autism is genetic because of its similarities to RS and that it tends to run in families. Yes, a “cure” is possible and RS symptoms have been reversed in mice in this study. You can’t reverse the gene, but you can reverse symptoms with treatment…at least in mice. Its still probably many years before RS becomes treatable and even farther out for autism because they still have not find the gene that causes it yet.

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Question?: Autism Symptoms 18 Months

Lizzie asks…

how often is rhetts syndrome misdiagnosed as autism?

My daughter who is now 32 months old was diagnosed w/a profound case of autism at 18 months old, I do know something is wrong w/her but i do second guess her diagnoses because there seems to be something more but none of the doctors seem to agree with me and think i’m crazy, i’m just not sure.

admin answers:

Hello Hillry…..Since your daughter was diagnosed at age 18 months with profound autism, it was most probably the most logical diagnosis her doctors could find for her unusual behavior patterns and impaired development. Rett Syndrome, while not common—-but neither is it what I would call “rare” is often not considered as a differential diagnosis at that age. It’s just “easier” to call it “autism”….but the truth of the matter is that Rett Syndrome progresses in stages, and in its very early stage (called Stage I or early onset) very closely resembles a constellation of signs and symptoms associated with autism. Now that your daughter is older, and I suspect she is demonstrating other symptoms that concern you, I would encourage you to persist with her doctors, asking that a genetic test be performed, specifically on the X chromosome where the MECP2 gene is located. Rett Syndrome is caused by a mutation or alteration of this gene.
Over the years of practice, I have learned that if “MOM” thinks there is something wrong with her child, chances are she’s Right! So please request that this genetic test be run and put your mind at ease.

I hope this helps some. I wish you and your daughter well.

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Genetic Test Predicts Risk For Autism

Main Category: Autism
Also Included In: Genetics
Article Date: 14 Sep 2012 – 2:00 PDT Current ratings for:
Genetic Test Predicts Risk For Autism
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A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing Autism Spectrum Disorder, ASD.

Lead researcher Professor Stan Skafidas, Director of the Centre for Neural Engineering at the University of Melbourne said the test could be used to assess the risk for developing the disorder.

“This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed,” he said.

“It would be particularly relevant for families who have a history of Autism or related conditions such as Asperger’s Syndrome,” he said.

Autism affects around one in 150 births and is characterized by abnormal social interaction, impaired communication and repetitive behaviours.

The test correctly predicted ASD with more than 70 per cent accuracy in people of central European descent. Ongoing validation tests are continuing including the development of accurate testing for other ethnic groups.

Clinical neuropsychologist, Dr Renee Testa from the University of Melbourne and Monash University, said the test would allow clinicians to provide early interventions that may reduce behavioural and cognitive difficulties that children and adults with ASD experience.

“Early identification of risk means we can provide interventions to improve overall functioning for those affected, including families,” she said.

A genetic cause has been long sought with many genes implicated in the condition, but no single gene has been adequate for determining risk.

Using US data from 3,346 individuals with ASD and 4,165 of their relatives from Autism Genetic Resource Exchange (AGRE) and Simons Foundation Autism Research Initiative (SFARI), the researchers identified 237 genetic markers (SNPs) in 146 genes and related cellular pathways that either contribute to or protect an individual from developing ASD.

Senior author Professor Christos Pantelis of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health said the discovery of the combination of contributing and protective gene markers and their interaction had helped to develop a very promising predictive ASD test.

The test is based on measuring both genetic markers of risk and protection for ASD. The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk.

“This has been a multidisciplinary team effort with expertise across fields providing new ways of investigating this complex condition,” Professor Pantelis said.

The study was undertaken in collaboration with Professor Ian Everall, Cato Chair in Psychiatry and Dr Gursharan Chana from the University of Melbourne and Melbourne Health, and Dr Daniela Zantomio from Austin Health.

The next step is to further assess the accuracy of the test by monitoring children who are not yet diagnosed over an extended study.

The study has been published in the journal Molecular Psychiatry

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posted by rubbh on 17 Sep 2012 at 1:24 am

It is stated in this article that the overall score of the protective marker score and risk marker score will determine how much the person is carry the risk of the ASD. Is all the Genetic markers(SNPs)especially of the risk markers are identified? If so what are the base changes which contributed for the risk marker since it is just single nucleotide change? Is it involve A,G,C,or T?

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posted by Harold Rongey, PH.D. on 16 Sep 2012 at 2:22 pm

This study appears to offer a test for early diagnosis.
I reserve the term prediction for use with knowledge of the cause where prevention would be possible. The test proposed would lead to earlier intervention with medications, therapy, etc that offer no reliable cures. Whereas, prediction prior to developing these genetic changes would provide the path to prevention.
Prediction in a study of more than a thousand individuals with autism successfully predicted with a 95% accuracy when considering fifteen dietary and environmental factors. In this study less than two percent could be attributed to genetics as the basic cause, therefore the genetic changes would more likely be the result of the missing nutrients and environmental factors present in the child.

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‘Genetic Test Predicts Risk For Autism’

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Aspies for Freedom Critical Of Genetic Testing

Aspies for Freedom Critical Of Genetic Testing

An organization made up of Asperger’s Syndrome patients, their loved ones, and those who may suffer from other autism related disorders, Aspies for Freedom is an enigma in the advocacy for the autism movement. Rather than supporting the search for a cure, they instead believe that Asperger’s syndrome, autism, and related conditions are simply an expression of being different, not something that requires curing.

This flies in the face of most autism charities that have active fundraising efforts with a light on spending at good share of the money on genetic research. This of course gives rise to the fear that – much like Down syndrome – a genetic test that could positively identify the presence of autism or Asperger’s Syndrome in an unborn child would lead to a large number of elective abortions. Just like many prospective parents choose to terminate a pregnancy when a child is considered likely to suffer from Down syndrome, Aspies believe that such tests will reduce the number of autistic and Asperger’s Syndrome children being born.

What makes this a dangerous proposition is the fact that many Aspies find that with proper adaptations, the quality of life that may be enjoyed by them is similar to that of those unaffected by the disorders. To this end, Aspies for Freedom argue that instead of funding genetic research, monies donated to autism foundations and charities should be used for finding and implementing the proper modifications and adaptations for current learning tools and utensils.

This of course brings up an excellent point: should Asperger’s Syndrome and autism be approached as diseases which may be eradicated via the genetic selection process, or should they be incorporated into mainstream consciousness as conditions which simply demand a different approach to everyday common tasks? Aspies would argue vociferously for the latter, while a good many scientists would like to approach the entire situation from a different angle and prevent or cure the conditions.

Curing autism or Asperger’s Syndrome is of course not possible at this point, and many Aspies point to an inadequate support system as being unpardonable in light of so many fundraisers and assistance drives that have resulted in a lot of monetary support for the cause. In addition to the foregoing, the search for prevention – via genetic testing – or a cure with the help of questionable method that many Aspies believe to do more harm than good is resulting in a wrong approach to the condition as a whole, focusing on future generations instead of current sufferers.

It is unlikely that Aspies for Freedom and those in search for autism or Asperger’s Syndrome cures will every see eye to eye. Moreover, there is little reason to believe that foundations and fundraisers will be swayed by their arguments. Although not considered a fringe group, Aspies have failed, thus far, to commandeer its fair share of support that is usually offered to the autism charities and overall community at large, most likely deepening the rift between those who would like to see modernized support and those who would want to see more genetic and medical research done.

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Tagged as: Asperger syndrome

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