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Something's not quite right

    Developmental delays and learning disabilities can come in as many different forms as there are children. As we learn to understand each, it's important to have conditions correctly diagnosed so that children can benefit from early intervention and therapies that will help them grow to their fullest potentials.

Fragile X syndrome

    You've probably never heard of the most common form of inherited mental impairment, fragile X syndrome. Because of its recent discovery in 1991, many doctors and pediatricians haven't heard of it either. Fragile X was the first gene uncovered in the Human Genome Project. Researchers estimate that fragile X affects approximately one in every 2000 boys and one in every 4,000 girls. But even today, many people with fragile X are still not correctly diagnosed.

Completely typical at birth

    Most children with fragile X appear completely typical at birth, but gradually they experience developmental delays. As the delays become evident, parents grow confused.

    "My daughter isn't sitting up by herself."

    "He's still not talking at 18 months."

    "He cries all the time. I feel like a bad parent. "

    Frustrated, parents visit specialist after specialist in hope of an answer or cause for their child's delayed development.

What's wrong?

    Fragile X syndrome is a genetic condition caused by a single gene whose code changes. The defect causes a disruption between the sending and receiving of messages required for proper brain development and functioning. When this gene is altered, it can cause developmental delays and mild to severe learning disabilities, including mental retardation.


    Children may have some or none of the common characteristics, which contributes to the difficulty in diagnosing fragile X.

Some of the most common physical characteristics include:

  • Eye and vision impairments

  • Elongated face

  • Flat feet

  • High arched palate

  • Hyper-extensible joints (double-jointed)

  • Large testicles (evident after puberty)

  • Low muscle tone

  • Prominent ears

    Some of the most common behavioral characteristics include:

  • Anxiety and shyness

  • Autism and autistic-like behavior

  • Hand biting and hand-flapping

  • Hyperactivity and short attention span

  • Language delays

  • Perseveration-repetition of the same actions or words

  • Poor eye contact


        Because children are born typically, and parents are unaware of this condition, often times, affected families have more than one fragile X child. Since the gene can pass silently through generations, undetected, and then affect a child, any one with undiagnosed mental retardation in his or her family should be tested.

        A simple DNA blood test is available to determine if a child is affected or if a person carries the fragile X gene. A carrier is a man or woman who may show no signs of impairment, but whose gene changes when passed onto a child. One in every 260 women carries this gene and with each pregnancy she has a 50 percent chance of passing it on. The same test is used for prenatal diagnosis.


        Currently, only the symptoms of fragile X can be treated. Early intervention programs involving occupational, physical, speech, and sensory integration therapies are most often helpful.


        Research on treating the "root cause" of fragile X is rapidly moving forward. Only one protein is missing with the syndrome, so compared to other conditions that involve many other proteins and genes, solving the problem of fragile X syndrome is relatively simple. Research on this gene contributes to finding cures and treatments to other conditions such as Down syndrome, autism, and Alzheimer's.

    Research Foundation

        The FRAXA Research Foundation was founded to support scientific research aimed at finding a treatment and a cure for fragile X syndrome. With Nobel Prize-winning scientists, Dr. James Watson and Dr. Eric Kandel, serving on the advisory board of the FRAXA Research Foundation, there is great hope for future generations. For more information, contact:

    Fragile X Association of Washington State
    1-866-WAFRAXA, (1-866-923-7292),
    e-mail , website

    FRAXA Research Foundation
    978-462-1866, website

    -2001 Debra Borchert
    Debra Borchert is the author of the soon-to-be-published, Fragile Secret, about her life with three siblings who are affected by fragile X syndrome. She can be reached by e-mail.

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