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Study Finds People with Fragile X, Carriers Likely to Have Additional Conditions E-mail
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People with fragile X syndrome, as well as those who carry the gene, are likely to have additional conditions that include attention problems and anxiety, according to a study by researchers at RTI International.

The study, published in the Aug. 15, 2008 issue of American Journal of Medical Genetics, surveyed more than 1,000 parents of children who either had fragile X syndrome, the most common inherited cause of intellectual disability, or were a carrier of the disease.

In this first large-scale assessment of conditions associated with fragile X syndrome, researchers found that most boys and many girls with the syndrome experience attention problems, anxiety and hyperactivity, in addition to developmental delay, 85 percent of males and 44 percent of females experienced two or more additional conditions.

Additionally, the study showed that carriers, those who have the altered gene but generally do not show signs of the disease, also had an increased prevalence of co-occurring conditions. Boys who carried the gene were more likely than typical children to have been diagnosed or treated for developmental delay, attention problems, aggression, seizures, autism, and anxiety.

Girls who carried the gene were more likely than typical children to have been diagnosed or treated for attention problems, anxiety, depression, and developmental delay.

"This study provides new insights into what it means to be a carrier of fragile X syndrome," said Don Bailey, Ph.D., a Distinguished Fellow at RTI and director of the project that produced this research. "Obviously carriers who are parents experience many challenges in raising a child with fragile X. This study suggests the possibility that carriers of fragile X may also have a higher biological susceptibility to things like anxiety or attention problems."

The number of co-occurring conditions children experienced was strongly associated with parent reports of the child's ability to learn, adaptability and quality of life. The findings suggest that clinicians should be sure to assess both carriers and individuals affected by fragile X to determine whether they have any of these co-occurring conditions so that they can be treated.

Fragile X syndrome is caused by the disruption of a single gene that leads to a protein needed for normal brain development. Changes in the gene are passed down from one generation to the next, usually silently in individuals who are not aware that they carry the disrupted gene. In each generation, the risk for having an affected child increases.

The study was funded by a grant from the Centers for Disease Control & Prevention.

About Anxiety

Anxiety disorder is a blanket term covering several different forms of abnormal, pathological anxiety, fears, phobias. Unlike the relatively mild, brief anxiety caused by a stressful event (such as speaking in public or a first date), anxiety disorders last at least 6 months and can get worse if they are not treated. Anxiety Disorders affect about 40 million American adults age 18 years and older (about 18%) in a given year, causing them to be filled with fearfulness and uncertainty. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse.

Although every anxiety sufferer does not experience anxiety attacks, they are a common symptom. Emotional symptoms of anxiety include:
  • a fear (such as that one has a mental illness, disease or will die);
  • they may feel the need to avoid certain stressful situations or social situations due to fear of embarrassment.
  • There may be considerable confusion and irritability when the anxiety is taking place.
Physical symptoms include, but are not limited to:
  • hot flushes
  • chest pain
  • sudden tiredness
  • headaches
  • shortness of breath
  • problems digesting
  • nausea

About Attention Deficit Hyperactivity Disorder (ADHD)

Attention Deficit Hyperactivity Disorder (ADHD) is a condition that becomes apparent in some children in the preschool and early school years. It is hard for these children to control their behavior and/or pay attention. It is estimated that between 3 and 5 percent of children have ADHD, or approximately 2 million children in the United States.

The principal characteristics of ADHD are inattention, hyperactivity, and impulsivity. These symptoms appear early in a child's life. Symptoms of ADHD will appear over the course of many months, often with the symptoms of impulsiveness and hyperactivity preceding those of inattention, which may not emerge for a year or more. Different symptoms may appear in different settings, depending on the demands the situation may pose for the child's self-control.

According to the most recent version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR), there are three patterns of behavior that indicate ADHD.
  • People with ADHD may show several signs of being consistently inattentive.
  • They may have a pattern of being hyperactive and impulsive far more than others of their age.
  • Or they may show all three types of behavior.
This means that there are three subtypes of ADHD recognized by professionals.
  • These are the predominantly hyperactive-impulsive type (that does not show significant inattention);
  • The predominantly inattentive type (that does not show significant hyperactive-impulsive behavior) sometimes called ADD-an outdated term for this entire disorder; and
  • The combined type (that displays both inattentive and hyperactive-impulsive symptoms).

About Autism

Autism is a complex developmental disability that typically appears during the first three years of life and is the result of a neurological disorder that affects the normal functioning of the brain, impacting development in the areas of social interaction and communication skills.

Autism is one of five disorders that falls under the umbrella of Pervasive Developmental Disorders (PDD), a category of neurological disorders characterized by "severe and pervasive impairment in several areas of development." Many of these disorders are often confused with each other until appropriate diagnosis to differentiate them is made.

About RTI International:

RTI International is one of the world's leading research institutes, dedicated to improving the human condition by turning knowledge into practice. Our more than 3,800 professionals provide research and technical services to governments and businesses in more than 40 countries in the areas of health and pharmaceuticals, education and training, surveys and statistics, advanced technology, international development, economic and social policy, energy, and the environment. For more information, visit



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