What are the social ramifications for those afflicted with fragile x syndrome?

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and also:
-the phenotypic characteristic for fragile x syndrome, if it is preventable, how?
-is fragile x syndrome fatal, when?
Social ramifications - all depends on the individual and how they are impacted by fragile x. Like autism fragile X is a spectrum disorder, some (mostly females) may have no social ramifications other than how they personally deal with knowing they carry a genetic disorder which may not come into play until they are much older. A female who might have limited symptoms may suffer from social anxiety, very much an introvert, very shy.

A child/adult with more severe symptoms anxiety, sensitivity to noise, light, strange environments, transitions may opt out of many community experiences, have a limited circle of friends.

Phenotype - Once again you must keep in mind it is a spectrum disorder not all will have the same characteristics, some may have none, some may have many. In addition, some of the features are common in many individuals who do not have fragile X, i.e. long face, large protruding ears, Strabismus, Hands and feet manifest nonspecific findings, including hyper-extensible finger joints, hand calluses, double-jointed thumbs, a single palmar crease, and pes planus, dental overcrowding and a high-arched palate, macroorchidism in adult males.

Is it preventable - well yes if you know you have it you could choose not to have children or use PGD/IVF.

Is it fatal - no, individuals typically have a normal lifespan.  (+ info)

Do you or a family member suffer from Fragile X Syndrome?

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My grandson is severely autistic and he went with his parents to have genetic testing yesterday. The doctor said my daughter (his mummy) may be a carrier of fragile x syndrome which caused his autism.
Has anyone out there been through the same thing?
My son was diagnosed with Fragile X in 1997, the condition had been silently lurking in our family for generations. Although the American College of Medical Genetics has noted that all children with developmental delays, autism or mental retardation be tested for Fragile X since 1994, many doctors don't test or don't run the correct test (chromosome analysis is unreliable). With the advances in research, families should test if only to rule it in or out. Within the next decade there will be treatments specifically for fragile X.

I highly recommend joining the Listserv at FRAXA and I've included numerous credible, reliable sources below. Please feel free to contact me through e-mail with any questions.

hugs and more!  (+ info)

Anyone willing to let me interview them on Fragile X syndrome?

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I need someone is diagnosed with Fragile X syndrome or knows someone with it to let me interview them for my research about the disorder.
I'm a carrier, diagnosed after my son was diagnosed in 1997, contact me I've got my yahoo profile setup to receive e-mail.  (+ info)

Can a woman have one daughter with fragile X syndrome, and one daughter without?

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hi,
I have two daughters...
Can one daughter have fragile x syndrome, and one daughter does not carry it fully?

Both daughters coming from the same mom and dad biologically?

Thanks
Yes - and it doesn't matter if they have the same mother and father. If they had different fathers and you were the carrier they could both have it, both not have it, one have a full-mutation, one be a carrier.

When a woman is a carrier she has two X chromosome and with each child she will only pass on one of the two. Typically one has normal CGG repeats (doesn't carry the FX mutation) and one has the abnormal CGG repeats. With each pregnancy, (if the mom is the carrier) a female has a 50/50 chance of passing it on. In my family my mother was a carrier, my older sister had a full-mutation (over 200 CGG repeats - we never new), I had a pre-mutation was a carrier 125 CGG repeats and my younger sister was passed on the X chromosome with the normal CGG repeats - doesn't carry the FX mutation.

If the father is the carrier he will pass the mutation on to all of his daughters (keep in mind a male only has one X chromosome). Typically, the CGG repeats don't expand so all of his daughters will be carriers.

What you need to understand about Fragile X and girls from what existing research has told us is that 1/3 of the girls may have no symptoms, 1/3 of the girls will have learning disabilities and 1/3 of the girls may be as severely affected as their male counterparts.

Another thing is, although it is not common sometimes females who carry the pre-mutation are affected.

The only way you will know for sure is if you test both daughters.

I have girls who carry the full-mutation and they are not affected, attend regular school - have no IEPs or 504s, are honor roll students.  (+ info)

My daughter has Fragile X syndrome and is Autistic. She is only sleeping 2 to 4 hrs. a night. ?

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Fragile X syndrome is also known as Martin-Bell syndrome. The doctors have put her on Melatonin 3mg at night. This is not working. Can someone help me with what I could give her to help her sleep better. I have already tried products containing Diphenhydramine.
Hi, I also have 2 kids with FX. My son also takes melatonin, which does help him fall asleep, but does not keep him asleep. Are you using the time released melatonin? I've heard good things about it, but my son can't take a pill, so we haven't tried it. He did try Clonidine for a while which helped some. But he started sleeping through the night regularly when we started him on Abilify.

Every kid is different - my girl has always been a sound sleeper, with no need for meds. Keep asking your doc to try different things - you and she need the sleep!   (+ info)

what is the history behind the fragile x syndrome?

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I need help finding out the history of the fragile x syndrome, and who discovered it!!!!!!!
John,

Fragile x syndrome was first described in 1943 by J.Purdon Martin and Julia Bell whose family had eleven members with fragile x symptoms although they did not know the cause or have a name for the condition at this time. In 1969, Fragile x was first discovered under the microscope by a scientist called Herbert Lubs who discovered that one of the arms of the X chromosome in people with fragile x was constricted which gave it the appearance of being broken which is how the name 'fragile x' came about. In 1991 Verkerk identified the cause for transcriptional silencing of the gene Fmr-1, that encodes the protein FMRP. Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene. Fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development. Males and females with fragile X syndrome may have anxiety and hyperactive behavior such as fidgeting, excessive physical movements, or impulsive actions. They may also have attention deficit disorder, which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of males with fragile X syndrome also have autism or autistic-like behavior that affects communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Many males with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty.




ALL ANSWERS SHOULD BE THOROUGHLY RESEARCHED, IN ANY FORUM AND ESPECIALLY IN THIS ONE. - MANY ANSWERS ARE FLAWED.

It is extremely important to obtain an accurate diagnosis before trying to find a cure. Many diseases and conditions share common symptoms.


The information provided here should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.

I add a link with details of this subject


http://www.bbc.co.uk/health/
conditions/fragilex1.shtml


Hope this helps
matador 89  (+ info)

What are some recent breakthroughs regarding Fragile X Syndrome?

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And/or what medical research is current;y being done to help cure or treat the disease?
As just a beginning, I suggest you go to the following websites, there is a lot in development, potential treatments and they are learning more each day through studies about the effects of fragile x on carriers as well.

There is too much to list in yahoo answers, which is a good thing!  (+ info)

Can someone give me some links about the population affected by Fragile X syndrome?

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Specifically on whether certain areas are affected or the environment is a factor. But any would work
In general there really hasn't been a "LARGE" study that would answer your question. Fragile X doesn't really care which ethnic group you belong to.

There have been SMALLER studies that have noted a possible higher incidence in African-Americans, Basque, and those of Jewish Decent. But the numbers of participants in some of these studies aren't large enough to verify this information.

When looking at female carriers, in Israel the carrier incidence is much higher than elsewhere, based on a study in 2001, 1 in 113 women are carriers, but that may only be because they routinely test for Fragile X, a test is offered to all females, part of prenatal screening procedures.

You could search pubmed.gov and pubmedcentral.gov to find the studies that have been conducted.  (+ info)

Can a Male carry fragile X syndrome without being mentally retarded?

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The answer to your question is most definitely YES, a man (and or woman) can carry fragile X and they do not have mental retardation.

Males can be carriers, carriers may not have any symptoms, Males can also be mosiac (some CGG repeats in the carrier range and some CGG repeats in the full mutations range).

Accurate sources below  (+ info)

do you have a child with Fragile X Syndrome?

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My son has it and I was just wondering if anybody else is going through what I am. No mean answers plaese.
No, I am not directly affected by this, and will not even pretend to know what you are going through emotionally,and physically. I hope the impairment is not severe. I am sure you are familiar with the Internet material available on the subject, and support groups available to you. If it helps you at all, you have educated a few of us today. I for one will be more compassionate and understanding because of your post. Thank you.  (+ info)

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