Tag Archives: Fragile X

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?: Rett Syndrome In Boys

Sharon asks…

A question about genetics. I have a child with ?

PDD-NOS, which is an autism spectrum disorder. I’ve read that normally people have a 1 in 150 chance of having a child with autism, but it jumps up to 1 in 20 for people who already have an autistic child.

My question is, does anyone know what my chances would be of having a child with classic autism or Rett‘s syndrome? I’m not worried about having a child with PDD-NOS or Aspergers, but I do have concerns about having a child with classic autism.
Hi Sally! Last July my son had been checked for Fragile X since he not only has PDD, but also scored low on a few I.Q. tests and has hyper-flexibility in his joints. However, he was not found to have this condition. I thank God, because I was terrified.

He’s seeing the genetics counselor again next Monday (for what, I do not know) but when I had asked the doctor the question, I didn’t receive much more than an answer that I have around a 1 in 20 chance of having another child with an ASD, but wasn’t informed on the risk for having one with classic autism. I was just hoping that possibly someone here knew the risk.

admin answers:

Hi …I am not sure but i was told i ‘might’ have another child with autism if i were to have another baby, i know a lady who has three children two girls and a boy the two older girls both have autism one more severe than the other the boy doesn’t have problems, so i would say yes there is always a chance

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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?: Rett Syndrome Pictures

Paul asks…

Why is my 2 yr old not talking or paying attention?

I have a 2 yr old, she is very active, interacts with others, looks at me when she needs something. As far a physical abilities shes great and slowly shes starting learn new things, but she is still not talking she will bable in her own language but never try to focus on what we are saying. She is in speech therapy as well as developmental therapy and no there is not sign of autism nor hearing problems. I am concerned what else it could be. Also, she does understand the meaning of no and let’s go. Most of the time when I call her she will not look at me and if she does she will turn back around to continue what she is doing. She does follow signs and gestures but when I point to something she will look at me and my finger but not the direction my finger is going in. If I tell her come here she will only do it at times and other times she will just ignore. Any idea what this could be? I talked to the pediatrician and she could not figure it out as well. Any other tests that could be done or is just a delay? I also tried showing her family pictures and I know she will not be able to name the people but she does not show any interest or show that she even knows them she will quickly turn the page. im assuming most kids would at least have a smile on their face or point or something if they saw a familiar face or even stare for a little bit. Help!
Ashley- I already spoke to her doctor

admin answers:

Since you’ve spoke to her doctor can you take the next step, ask to see a developmental ped?

Take the opportunity to rule out conditions such as Angelman, Fragile X or Rett Syndrome (these conditions are genetic, ruling them in or out is important it may alter your therapy plan, syndromes might also have medical conditions you should be aware of and with research treatment, related to the core deficiencies of these syndromes is rapidly evolving).

Sources provided below on the conditions listed above. Good luck, I hope you find your answers.

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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:

Jessica,

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:
www.trustortrash.org

Warmest regards, and best wishes on your journey.

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Question?: Rett Syndrome Treatment

Helen asks…

Give me the meaning of autism (High functioning)?

admin answers:

What is high functioning autism, and how does it differ from Asperger syndrome? This is a tricky question, and not one that this article is likely to answer definitively. First, there is no formal diagnosis called “high functioning autism.” What’s more, there’s no agreed upon definition of “high functioning.” As a result, while the term “high functioning autism” is often tossed around, it is a hard definition to pin down.
Generally speaking, doctors prefer to group people with autistic symptoms into discrete diagnostic categories. Rett syndrome and Fragile X syndrome are relatively clear cut disorders, and thus are likely to be correctly diagnosed. Classic autism is also fairly clear cut: Children with classic autism are usually non-verbal, unengaged, and unable to perform well on standard diagnostic tests.

But then there are the people who are high functioning but also demonstrate clearly autistic behaviors. For example, depending upon their age, they can use meaningful language, read, write, do math, show affection, complete daily tasks but can’t hold eye contact, maintain a conversation, engage in play, pick up on social cues, etc. What is the correct diagnosis for such a child? Is it Pervasive Developmental Not Otherwise Specified” (PDD-NOS)? Asperger syndrome? High functioning autism?

PDD-NOS is a catch-all diagnosis. Often understood to mean the same thing as “high functioning autistic,” it really incorporates individuals at all function levels whose symptoms don’t fully correlate with classic autism. So a PDD-NOS diagnosis may provide some information to parents and teachers but cannot guide treatment.

Asperger syndrome is a much more specific diagnosis, with specific diagnostic criteria. Until recently, the biggest difference between Asperger syndrome and high functioning autism was based on whether a person developed speech typically as a toddler. Those who did develop speech typically were considered to have Asperger syndrome while those who did not (even if they developed typical speech later) were diagnosed with autism. Now, experts are wondering whether speech development is the best way to distinguish between autism and Asperger syndrome or if there even is a difference.

High functioning autism is not an official diagnostic term, though it may be used as such. It tends to describe people who have many or all of the symptoms of autism but did not develop language typically. It’s a helpful diagnosis that can help guide appropriate treatment and school placement. On the other hand, it is important to be sure that a “real” diagnosis (that is, one that is described in the official diagnostic manual) is also placed in your records. It is this “real” diagnosis which may pave the way to medical and Social Security benefits down the road.

One useful explanation of the difference between Asperger syndrome and high functioning autism comes from the National Autism Society in the UK. Here’s what it says:

Both people with HFA and AS are affected by the triad of impairments common to all people with autism.
Both groups are likely to be of average or above average intelligence.
The debate as to whether we need two diagnostic terms is ongoing. However, there may be features such as age of onset and motor skill deficits which differentiate the two conditions
Although it is frustrating to be given a diagnosis which has yet to be clearly defined it is worth remembering that the fundamental presentation of the two conditions is largely the same. This means that treatments, therapies and educational approaches should also be largely similar. At the same time, all people with autism or Asperger syndrome are unique and have their own special skills and abilities. These deserve as much recognition as the areas they have difficulty in.

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Question?: Rett Syndrome Research

Lizzie asks…

Will there ever be an autism cure?

Is an autism cure likely to be found in the next decade?

admin answers:

“Cure” in the next decade might be a far reach but I’d encourage you to follow the research related to fragile X, they’ve made some huge strides in the last decade, medications are currently in clinical trials to treat/reverse core symptoms. Fragile X is not the only disorder that’s leaped ahead in the last decade, they’ve also made advances in understanding Rett Syndrome. A few sources below that you might find interesting.

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Question?: Rett Syndrome Research

Thomas asks…

With a NEGATIVE Fragile X blood test, could you still have autism?

I checked the test it does say FMR1- I see we did get eh right test by the Dan Marino Center in Weston, FL, Dr. Tuchman, good dr. He was the one that said my son did not have Autism, but did have speech delay and social dysfuntion. he had an MRI done too, everything normal. Prev neuro said aspergers, everyone after her said no way. who knows!

admin answers:

The very simplest answer is of course yes, Fragile X is only one of the known genetic causes of autism, there are other causes as well, some with a known genetic bases, some due to reasons the researchers still haven’t identified. If your child is female, it will be very important that they rule out Rett Syndrome.

First I must caution you on the results of the test, you need to ensure that they ran the FMR1 DNA test.

A chromosome analysis or microarray analysis CANNOT be used to test for Fragile X, they produce far too many FALSE negatives. The FMR1 DNA test is 99% accurate. Look at your test results, did they provide you with CGG repeat numbers, if they didn’t that’s a strong indication that they may not have ran the FMR1 DNA test.

You CANNOT diagnose Fragile X by physical traits, the physical traits are not always present. Some may never display them and many individuals who DO NOT have fragile X may have long faces and large ears. With some individuals they may grow into the physical traits during puberty.

Chromosome analysis and microarray analysis are far more expensive than a FMR1 DNA test, the fragile X test may run as little as $200 to as much as $600, and if anyone is interested I know of a research study that will do the screening for mothers to determine if they are a carrier for FREE. Just connect with me through the e-mail option.

Additional details: Emma glad they ran the FMR1 test, sounds like you’re frustrated – which is very understandable since you’re looking for answers and coming up empty. I hope you don’t give up, some may feel a reason isn’t important but if there is a reason you should find out just to be aware of other medical conditions that may accompany the reason. Do you know what other tests the doctor ran? At this time if he/she didn’t complete a chromosome analysis or microarray analysis you may wish to have them done. You might also want to visit a genetic counselor just to rule out other conditions that may present with autism characteristics. Good luck and hugs.

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Question?: Rett Syndrome Genetics

Susan asks…

Is autism hereditary?

Is it possible for a parent to have a different form of autism than their children? For example a child has Asperger’s and their parents or grandparents are autistic but don’t have it?

admin answers:

Autism is a developmental disability that typically involves delays and impairment in social skills, language, and behavior. Genetics appear to play an important role in causing some cases of autism. Several studies have shown that when one identical twin has autism, the other co-twin often has autism. In contrast, when one fraternal twin has autism, the co-twin is rarely autistic. Studies trying to identify specific genes associated with autism have been inconclusive. Currently, it appears that 20 or more genes may be associated with autism. This is in contrast to other disorders, such as Fragile X or Rett’s syndrome, in which single genes have been identified.
In fact, autism is sometimes described as an autoimmune system disorder

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Question?: Pdd Autism

Mary asks…

Does anyone know the cause of autism? How to prevent my soon to be born daughter from having autism?

I’m currently pregnant and wonder if there’s anything I have to do to prevent autism? Is it true that certain vaccines can cause autism? Thank you

admin answers:

There is no known single cause for autism, but it is generally accepted by the medical community that it is caused by abnormalities in brain structure or function. Brain scans show differences in the shape and structure of the brain in autistic versus non-autistic children. Researchers are investigating a number of theories, including the link between heredity, genetics and medical problems. While no one gene has been identified as causing autism, in many families there appears to be a pattern of autism or related disabilities, further supporting a genetic basis to the disorder. Researchers are searching for irregular segments of genetic code that autistic children may have inherited. It also appears that some children are born with a higher susceptibility to autism, but researchers have not yet identified a single “trigger” that causes autism to develop.

Researchers are also investigating the possibility that, under certain conditions, a cluster of unstable genes may interfere with brain development, resulting in autism. Still other researchers are investigating problems during pregnancy or delivery, as well as environmental factors such as viral infections, metabolic imbalances, and exposure to environmental chemicals.

Autism tends to occur more frequently than expected among individuals who have certain medical conditions, including Fragile X syndrome, tuberous sclerosis, congenital rubella syndrome, and untreated phenylketonuria (PKU). Some harmful substances ingested during pregnancy have also been associated with an increased risk of autism. Early in 2002, The Agency for Toxic Substances and Disease Registry (ATSDR) prepared a review of hazardous chemical exposures and autism and found no compelling evidence for an association. However, there was very limited research and more needs to be done to rule out chemicals.

The question regarding a relationship between vaccines and autism continues to be debated. In 2001, an investigation by a committee of the Institute of Medicine concluded that the “evidence favors rejection of a causal relationship…. Between MMR vaccines and autistic spectrum disorders (ASD).” The committee however, acknowledged that “they could not rule out” the possibility that the MMR vaccine could contribute to ASD in a small number of children. While other researchers agree the data does not support a link between the MMR and autism, they also agree more research is clearly needed.

Whatever the cause, it is clear that children with autism and PDD are born with the disorder or born with the potential to develop it. Bad parenting does not cause it. It is not a mental illness. Children with autism are not unruly kids who choose not to behave. Furthermore, no known psychological factors in the development of a child have been shown to cause autism.

Http://www.autism-society.org/site/PageServer?pagename=WhatIsAutism

If you are a normal healthy individual do not worry about any thing and keep yourself cheerful and healthy. Do the physical exersises as adviced by your Doctors regularly and think positively. Wish you all the best.

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