Tag Archives: Genetic Counselor

Question?: Rett Syndrome Treatment

Laura asks…

My 2 year daughter is severely developmentally delayed. We got the results of the MRI.?

The Dr gave me the full report but said it doesn’t explain the medical reason for her symptoms- hyponotia dev delayed globally- pectus excavatuum- feeding and swalloing issues drools all the time non verbal and presents as a child with cp and autism.
Small confluent areas of increased T2 and FLAIR signal abnormality within pertrigonal parietal white matter as well as mild cerebral volume loss. Can anyone possibly explain this to me ?
Thank you to all who have responded so far. We did have bloodwork taken in jan 2010 and still awaiting the results. They are apparently only testing that for rett angelman. We have been to a paed dr and he said she does not have autism but still displays many symptoms. My biggest issue right now is being undiagnosed. I am in Southerm Ontario. I do have a therapy team and medical team. We have more appointments in dec and jan coming up to go over her progress and do another checklist of behaviours.

admin answers:

With what you’ve defined, have they done any genetic testing, I’d visit a genetic counselor if only to rule out conditions like Rett Syndrome, Fragile X Syndrome or Angelman Syndrome.

The right diagnosis is so very important to model treatments, therapies and known medical problems that could affect your child’s health and/or other members of your family.

Rett and Angelman Syndromes could be identified I believe by a chromosome or microarray analysis, Fragile X needs to be tested through a FMR1 DNA test (important that the run the correct test, this test is 99% accurate.) A genetic counselor with be more up-to-date on how to test for these conditions, better than many dev. Peds or neurologists who still try to use a chromosome analysis for fragile X, when the gene was discovered in 1991, and the DNA test was created shortly there after.

Big Hug, if you have any support groups in your area,, local or cyber you might find them helpful, I allow e-mail through yahoo and if you’d like me to try to help you find one just send me an e-mail, let me know where you are located.

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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
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?: Treatment For Autism Children

Thomas asks…

What are the chances of us having an autistic child?

My husband’s niece has Asperger Syndrome. Are the chances higher than average for us to have a baby with AS or autism?

admin answers:

There are a few different spectrums of Autism and ASperger syndrome is one of them,it is less severe and usually occurs in females..Autism is becoming more frequent yet doctors and scientists truly dont know what the cause is but they do believe it may be genetic,and since it usually isnt diagnosed until the ages between 2 and 4,it would be highly unlikely to detect beforehand if you and your husbands child will develop it..still yet,you and your husband should see a genetic counselor and have tests run before getting pregnant to rule out any other possible genetic abnormalities…the good news though,is that even with Autism reaching its all time high,the treatments are getting better and with more success…hope this helped! Good luck…

For more info visit

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Question?: Rett Syndrome Causes

James asks…

Does PDD-NOS gradually disappear as they get older?

I’ve heard from several sources that unlike other branches of autism like Aspergers, PDD-NOS can be outgrown or disappears in adult life. Can I get some input from some mental health professionals with experience with people with it? My 4 year old daughter was just diagnosed with it and she loves trains and spends most if not all of her alone time jumping and flapping her arms in a corner and talking to herself under her breath. I love her to bits. I’m just wondering if it will stay with her as she grows up. Any help will be strongly appreciated.

admin answers:


First, big hug, a diagnosis at any time can be very stressful with so many unknowns and so many questions that can’t be answered.

Every child is different, and sadly there isn’t a crystal ball that will tell us where your daughter will be five, ten or twenty years from now.

She may be independent when she’s older, she may not, your role will be to reach for the stars, to provide what she’ll need to be successful, to ensure she reaches her highest potential and accept that no matter what it may be.

You may wish to seek out various therapies such as speech/language, sensory, diets, etc. If you plan to try a biomedical approach my only recommendation would be that you rule out genetic conditions that may be the root cause, such a angelman, rett or fragile X syndrome as those therapies will not correct the genetic problem. A trip to a genetic counselor could be a wise decision before spending thousands of dollars on therapies that may not help.

Think about what you think her education should look like, will she have the opportunity to model positive behaviors, will she be with peers who will aide in her learning?

As for sources you may have heard from, it’s important when viewing the sources to determine if the site/source is credible, reliable, this website might help:

Warmest regards, and best wishes on your journey.

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Question?: Rett Syndrome Research

John asks…

What are the chances of my children having autism?

If my wife and her sister are autistic (the rest of the family is fine) , what are the chances that our children will be autistic? Is it true that autistic people often have normal children?

admin answers:

Do they actually have a diagnosis of autism, if so have genetics been ruled out. Old school (remember there is a great deal of on-going research) with a history of autism in the family there was an 10% increased risk.

If there is a genetic condition that results in a diagnosis of autism or if it results in the individual having numerous characteristics of autism the odds could change drastically. A visit to a genetic counselor might not be a bad idea – rule out conditions such as Angelman, Fragile X or Rett Syndrome.

If there are female relatives with a history of early menopause, or older relatives with a history of Parkinson Disease or balance/gait problems with dementia I’d make Fragile X a priority to rule out (these are conditions more prevalent in the fragile X carrier population.) Females with Fragile X (carrier or full-mutation) have a 50/50 chance of passing it on with each pregnancy.

Anyone can have “normal” children and keep in mind we might all define “normal” differently.

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