Identifying And Understanding Fragile X Syndrome

Fragile X Syndrome is an inherited intellectual disability which causes mental retardation. Most cases are caused by the FMR1 gene being altered or mutated. The syndrome occurs when the gene DNA segment called CGG triplet continues to replicate itself and expand at almost triple its normal rate. The CGG segment, once expanded, alters and inactivates the FMR1 gene. Once the CGG segment is inactivated it prevents the FMR1 gene from producing the fragile X protein resulting in mental retardation. A smaller amount of CGG triplet repeats lessens the chances of the child having mental retardation.

Who Can Get Fragile X Syndrome?

Both males and females in any ethnic group can inherit the syndrome. However, the syndrome tends to be more commonly found in boys as opposed to girls. Boys are more likely to inherit the syndrome due to them having one X chromosome. Boys who have been diagnosed with the full FMR1 mutation tend to have a more moderate case of mental retardation. Girls who have been diagnosed with the full FMR1 mutation have a mild case of mental retardation.

What Are the Characteristics and Symptoms of Fragile X Syndrome?

Fragile X Syndrome exhibits many distinctive facial features found in both boys and girls. Facial characteristics and body deformities associated with the syndrome can be detected as early as childhood. Very few characteristics are found in infancy. A series of prenatal tests such as chorionic villus sampling (CVS) or amniocentesis can be used in an attempt to determine if the baby has the mutated gene. However, the prenatal tests may be inconclusive and a follow-up amniocentesis may be recommended.

Some deformities and characteristics appear after puberty such as enlarged testicles in boys. Some very profound facial features are a long face and chin; large protruding ears; a larger head and a protruding forehead. Many behavioral issues include: mood swings, anxiety, flapping or biting their hands, hyperactivity and autistic behaviors as well as delayed learning. Some behavioral problems and physical issues may present themselves after puberty like tremor or ataxia syndrome, overly flexible joints, poor eye contact, lack of impulse control, heart issues, speech problems, lack of coordination, skin and orthopedic issues, and light, sound and motion sensitivity. Girls diagnosed with the disorder may experience infertility and early menopause.

Diagnosing Fragile X Syndrome

It has been proven that Fragile X Syndrome affects approximately 1 in 6-8,000 females and 1 in 4,000 males. A blood test can be used for diagnosis. Blood samples are examined by professional lab technicians to see if any gene mutations can be detected. In order to located a designated testing facility you should consult your genetic counselor or healthcare provider. Also, you may contact the National Fragile X Foundation to find a local testing facility.

Treatment for Fragile X Syndrome

There is no definite cure for the syndrome but an individualized treatment plan may be ideal for young children. A child can reach its full potential if they regularly seek care from qualified individuals who specialize in physical or occupational therapy, psychology and speech/language therapy. Also, some medications are available to assist children with behavioral issues. A few medications that are most commonly used for treatment are: ant seizure drugs, antidepressants, stimulants, and antipsychotics.

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