Discussing Autism

The Vaccine Court has been in session for more than a decade debating whether or not Vaccines actually cause autism. A total of 4,900 families have signed on to participate in the Vaccine Court. (more…)

Although the findings are not new, the connection may not often be made between Fragile X and Primary Ovarian Insufficiency because Fragile X is very often silent in females.

In 2005, a study revealed that premutation carriers (female carriers) often had symptoms such as premature ovarian failure and tremors/ataxia. They found that premature ovarian failure occurred in up to 20 percent of woman who were carriers of the FMR1 gene (compared to approximately one percent of women in the general population).

The DNA MedEd Cafe is conducting a Special Web Conference February 28th to discuss Premature Ovarian Failure/Primary Ovarian Insufficiency and Molecular Diagnosis.

What is Primary Ovarian Insufficiency? POI was formerly known as Premature Ovarian Failure and is NOT menopause. Women with POI may actually develop symptoms similar to menopause but they can still get pregnant because their ovaries may occasionally work. However, women with POI are at higher risk for being carriers of Fragile X. Some women may still even have regular cycles but may have POI in a milder form.

Women who suspect they may have POI and be carriers of Fragile X should have the FMR1 DNA test. The risk to children includes mild to severe mental retardation and you (the woman) risks developing Fragile X Tremor/Ataxia Syndrome.

Girls with full mutation Fragile X have fewer physical signs of Fragile X than do males (who typically also have more mental retardation and serious learning disabilities). However, some females (about one third) also have learning disabilities like attention difficulties, emotional problems, poor social skills, and problems with math.

Since the death of Wrestling star, Chris Benoit, Fragile X has been in the news and on the Hill. However, it should have been even before that, as it is the leading cause for Autism. In fact, it it important that ALL children with autism be tested for Fragile X and ALL children with special needs be tested for Fragile X AND both birth parents.
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At first the idea of “drugging” my child really scared me especially when cases like the one Dateline covered Monday Night.

Clonidine is a drug typically used to treat hypertension in adults but it has been found to effectively treat ADHD, tourettes, and even sleep disorders in children. Children with Fragile X Syndrome have been successfully treated with Clonidine and with Clonidine and CNS stimulants like Methylphenidate, or Ritalin. Because medication can be important in the treatment of behavior disorders we made the best decision we could…but it was hard.

When I realized that we had no other choice because of the amount of sleep he was getting and his severe aggression I was conflicted. Should I give my son a medication that will help him and that he needs or should I keep him drug free?

We chose to use Clonidine to help Little Pickel sleep. The first night he used it was the first night in over a year that we and more importantly, HE, had a full night’s sleep.

But why would we even consider medication in the first place? Since adopting AJ he had not gotten a full nights sleep…and it had been almost 1 and a half years. It took him almost 3 hours to fall asleep and then he would have horrific night terrors that sometimes lasted up to an hour. Of course, he was not awake, but it meant that he was not passing over in to deep sleep properly, thus not getting good REM sleep. Then, after his night terrors, he would wake 10-12 times a night sometimes for only a second to roll over, sometimes because of a wet diaper, and sometimes for hours.

We tried Benedryl on really tough nights and he would sleep for almost exactly 4 hours. We also used Melatonin but that effect had started to wear off and we could not increase the dosage because he would get insomnia at 2 in the morning. The next day he would then nap in the afternoon for two to three hours and I would as well…getting much needed sleep.

When we talked to his new pediatrician about his sleep issues and she noticed his aggression (due to both sleep deprivation and copper toxicity) she instantly thought of Clonidine. However, she did not want to prescribe it until he adjusted to his new school and home. When we saw her 2 months later and we were still in the same boat…she prescribed it.

Clonidine is in a group of medicines called alpha-agonists. By regulating brain activity, it has a calming effect in children with attention deficit and hyperactivity disorder (ADHD). It can also be used for other conditions, such as tics, aggression, or sleep problems.

I will cover more tomorrow on the dangers of over-medication of children.

The National Institute of Health has awarded a team of researchers at the University of California Davis, School of Medicine and the M.I.N.D Institute a five-year, $21.8 million Interdisciplinary Research Consortium grant.

This is THE largest single federal award for research related to the Fragile X gene.

According to the PR Newswire press release “the award will support a broad interdisciplinary effort studying the mutation of the FMR1 gene responsible forfragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS). It will help develop targeted treatments for FXTAS, a neurodegenerative disorder, its closely related conditions of Alzheimer’s and Parkinson’s disease, and for FXS, a neurodevelopmental disorder. The award will result in the creation of the NeuroTherapeutics Research Institute (NTRI) at UC Davis.”

To read more about each type of Fragile X please visit http://www.FragileX.org.

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by Mary Beth Langan and Sally Nantais, July 2006

From : Fragile, What?
1. It’s genetic.
2. If a woman is a carrier, she has a 50/50 chance of passing it on to her son(s) or daughter(s). 1 in 100 to 200 women are carriers **.
3. If a man is a carrier he will pass it only to his daughter(s), and they will only be carriers. 1 in 800 men are carriers.
4. Fragile X Syndrome does not discriminate; it doesn’t care which ethnic group you belong to.
5. Fragile X Syndrome is a spectrum disorder. Symptoms may vary from mild learning disabilities (including shyness and social anxiety) to severe cognitive impairment (mental retardation).
6.Premature Ovarian Failure, more commonly known as early menopause, is a condition that affects 20-28% of the female FXS carrier population.
7. Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), discovered in 2001, is a neurological disorder that can involve tremors, balance irregularities, difficulty walking and dementia which sadly is often misdiagnosed as Parkinson’s and/or Alzheimer’s. This condition is present in some older FXS carriers (typically after the age of fifty), usually in males but FXTAS can also affect female carriers.
8. There are minor physical traits noted in many persons with Fragile X Syndrome, but not in all. These are traits which may also be present within the typical population, nothing unique which would necessarily indicate FXS testing is necessary for your child.
9. When testing for Fragile X Syndrome (FXS), it is critical that the correct tests are ordered – the Fragile X DNA (Southern Blot) and Polymerase Chain Reaction (PCR) tests. Inaccurate results occur far too often with the generic chromosomal panel. Test for FXS to obtain a diagnosis or to rule it out. If you don’t have what may be the correct diagnosis of FXS, then you will never be aware of improved treatments or the cure when it’s found.
10. Where to go for the most accurate and up-to-date information on fragile X syndrome:

www.fragileX.org, the National Fragile X Foundation

www.FRAXA.org, Fraxa Research Foundation

www.conquerFragileX.org, Conquer Fragile X Foundation

** American Academy of Family Physicians, News and Publications, Vol. 72/No. 1 (July 1, 2005) http://www.aafp.org/afp/20050701/111.html

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Don’t forget! National Fragile X Day is this coming Sunday, July 22!

Motorcycle ride organizers raise awareness of Fragile X Syndrome
By Elizabeth Raffaele

GRAY/NEW GLOUCESTER (July 18, 2007): Playing with a mini-motorcycle and munching on a slice of apple, 4-year-old Alex Gosselin seems like an ordinary child.

But Gosselin isn’t a typical child. The blond, blue-eyed boy was diagnosed at birth with Fragile X Syndrome.

Physically, he looks like any other kid. But he displays autism-like behavior, something his mother said people can have a hard time understanding.

“When you look at Alex, you don’t see anything wrong,” Gosselin said. “It can be frustrating when he has a behavioral outburst.”

According to Gosselin, few people know about Fragile X Syndrome even though it is the most common genetic cause of autism. Fragile X Syndrome is the most prevelent cause of mental retardation and July 22 is National Fragile X Awareness Day. According to The Fragile X Research Foundation, Fragile X affects 1 in 4,000 males and 1 in 6,000 females.

In order to raise awareness and money for Fragile X, Gosselin is organizing a motorcyle ride and silent auction for Saturday, Aug. 25. She has organized the ride since 2005.

The proceeds from the ride and the auction will go the National Fragile X Foundation and FRAXA Fragile X Research Foundation as well as for therapy scholarships for Maine children who are diagnosed with Fragile X.

Gosselin, who owns Maine Coast Cycle with her husband Eric in New Gloucester, said the auction will consist of such items including motorcycle gear, a fly fishing rod, restaurant gift certificates, among other items.

According to North Yarmouth resident Julie Wilson, who also has a child named Alec who was diagnosed with Fragile X, the point of the event is to also get early intervention for those children who are undiagnosed. Wilson is helping Gosselin organize the event.

“I’m pretty confident if I hadn’t received occupational therapy when he was young…then I think life would be harder for him today,” Wilson said.

“The important part is if parents, who have kids who are having difficulty, get the treatment and the services,” she said.

While children with Fragile X physically look much like other children, they exhibit symptoms such as delayed speech, autistic behaviors, reduced eye contact and seizures.

Alex Gosselin, for example, is mostly nonverbal. However, he uses more than 40 signs in order to communicate ideas to his parents.

For Gosselin and Wilson, the inability to communicate can present the most challenging aspect of caring for a child with Fragile X. Wilson recalls what it was like when her son, who has recently graduated high school, was Alex’s age.

“I remember what it was like when he was smaller with no communication…that was really tough until language comes,” Wilson said.

For Alex Gosselin, that time could be fast approaching as he was recently approved for a voice-output device that will help him communicate with his family.

There is a $25 donation for those who participate in the ride. Gosselin, who is unsure of the exact course, said it will be a Lakes Region ride beginning at Maine Coast Cycle. Ride registration begins at 8 a.m., the ride at 9 a.m., and the auction at 1 p.m. In order to donate items to the auction or volunteer with the event, individuals should call Maine Coast Cycle at 926-4211.

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