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About Fragile X Syndrome
From mild learning disabilities to profound mental retardation, Fragile X Syndrome has enormous impact on people’s lives.
Fragile X syndrome (also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome) is the most common cause of genetic mental impairment. The frequency of this condition is controversial; some estimate that Fragile X affects 1 out of every 1,000 people of both genders, while others put the numbers significantly lower: 1 in 2,000 males and 1 out of every 2,500 females. Fragile X affects all races and ethnicities equally, and is incurable. Because women carry two X chromosomes, they are twice as likely to be carriers of the disease; it is estimated that 1 in 400 women and 1 in 800 men carry the mutation that causes Fragile X. (Other estimates put the frequency higher: 1 in roughly 260 women and 1 in 750 men.) Fragile X Syndrome is thought to be the cause of approximately 10% of all cases of inherited mental retardation, and nearly a third of X-linked mental retardation.
Fragile X Syndrome is caused by a mutation in a specific gene carried on the X chromosome. This gene, called the Fragile X Mental Retardation 1 (FMR1) gene, is a sometimes unstable gene that mutates frequently in human beings. The particular type of mutation involved, known as a ”trinucleotide repeat disorder,” involves multiple errors in the genetic code that make up the affected gene. Because the FMR1 gene is so easily destabilized, it is more likely to show up suddenly and frequently in families with no previous history of the disease than most other genetic disorders. Carriers of the disease (those with “premutations” of the FMR1 gene) usually do not show any symptoms, but their children and grandchildren have a much greater chance of being affected.
Fragile X Syndrome affects males and females differently. Males, because they have only a single X chromosome, usually suffer more severe effects of Fragile X Syndrome and are twice as likely to be affected by the mutated gene as females. These include intellectual deficits (ranging from mild to severe); behavior characteristics such as hand flapping and biting, ADD, speech problems, autistic behavior, and aversion to touch and sound; and physical features, including long faces and prominent ears, weakened connective tissue, and macroorchidism (enlarged testicles). Some of these problems don’t show up until puberty. Males with the disease are more likely than not to have mental retardation. Nevertheless, a significant minority—around 20%—of males with the Fragile X mutation exhibit no symptoms, or very mild symptoms.
Females, of course, carry two X chromosomes. This means that they are more likely to carry the mutation that causes the disease, but less likely to be affected by it: if the FMR1 gene on one X chromosome is defective, the FMR1 gene on the other X chromosome can compensate. Even when the mutated gene does affect females, the symptoms are usually much less pronounced than in males. Females with Fragile X Syndrome and those who are merely carriers are both more likely to experience early onset menopause. Additionally, women who are carriers of the mutation are more likely to give birth to twins. There is also evidence that females with Fragile X Syndrome are more likely to experience "precocious puberty" (sexual development before 8 years of age).
There is no cure for Fragile X, and no way to prevent it; however, therapy (speech, occupational, behavior, physical) may help with the effects of the syndrome. Children with Fragile X Syndrome are eligible for special education services. Some important areas to work on are: cognitive/academic, speech/language acquisition, sensory/motor skills, and behavior.
Since having Fragile X does not necessarily shorten one’s life, future planning is important. One thing to consider is a special needs trust. The National Fragile X Foundation’s website has very detailed information provided by a Michigan lawyer about this. It explains how such a trust works, how to choose an attorney (it is important to make sure the attorney you choose understands Social Security, Medicare, Medicaid, and other benefits) and to choose a trustee carefully, since the trustee has discretionary power over how the funds are spent.
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Fragile X Resources
A great wealth of information about Fragile X Syndrome is available through books, websites, and organizations. Just a few of these resources are listed here. For others, contact the National Fragile X Foundation. More general information, on mental retardation and other disabilities, is available in our recommended reading section.
Books and Other Publications
- Fragile X Syndrome (3rd edition)
By Randi Jenssen Hagerman, Paul J. Hagerman
Johns Hopkins University Press, 2002
A highly acclaimed book that discusses diagnosing Fragile X Syndrome, as well as treatment and information on genetic screening and counseling. Includes very good (and recent!) research on epidemiology, molecular biology and genetics, and neuropsychology. Buy it at Amazon.com
- Children with Fragile X Syndrome
By Jayne Dixon Weber
Woodbine House, 2000
An easy to understand guide for parents of children with Fragile X Syndrome. In addition to the regular information on diagnosis, it also includes advice or parents on how to obtain emotional balance, information on daily care issues, an overview of educational issues and opportunities, and an extensive resources list. Buy it at Amazon.com
- The 2002 Official Patient's Sourcebook on Fragile X Syndrome
By James N. Parker and Philip M. Parker
Icon Health, 2002
A reference divided into three parts: basic techniques to researching Fragile X Syndrome, advanced research dedicated to Fragile X Syndrome, and the latest scientific and applied research on Fragile X Syndrome. Buy it at Amazon.com
- Fragile X, Fragile Hope: Finding Joy in Parenting a Special Needs Child
by Elizabeth Griffin
Emerald Books, 2004
Written by the mother of a child with Fragile X Syndrome, Fragile X, Fragile Hope discusses her experiences raising a child with Fragile X Syndrome and offers advice to other parents in similar circumstances. Buy it at Amazon.com
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Internet Links and Sites
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Fragile X Organizations
- National Fragile X Foundation
www.FragileX.org
PO Box 190488
San Francisco, California 94119
800-688-8765
A non-profit organization dedicated to enriching lives through educational and emotional support, promotion of public and professional awareness, and
advancing research toward improved treatments and a cure for Fragile X Syndrome.
- FRAXA Research Foundation
www.fraxa.org
45 Pleasant St.
Newburyport, MA 01950
(978) 462-1866
An organization founded in 1994 by three parents of children with Fragile X syndrome to support scientific research aimed at finding a treatment and a cure for Fragile X syndrome.
- Fragile X Association of Michigan
(313) 381-2834
- The Fragile X Resource Group of NE Wisconsin and Michigan UP
(715) 732-8327
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