Fragile X syndrome is a genetic disorder that also happens to be a common cause of autism. Though you may or may not have heard of this disorder before, many people are unsure as to what it means. What is fragile X syndrome exactly?
This disorder is caused by mutations in a single X chromosome. Males have one X and one Y chromosome, while females have two X chromosomes. Because of this, males are more commonly affected by this disorder and typically have more severe symptoms. It has been estimated that approximately 1 in every 4,000 males and 1 in every 8,000 females is affected.
Fragile X Syndrome Symptoms
Though the severity of symptoms differs between men and women, some common fragile X syndrome symptoms are hyperactivity, impulsivity, anxiety, mood swings, tremors, and poor coordination. Many people with fragile X syndrome are also diagnosed with autism spectrum disorder, ADD, ADHD, or intellectual disability (formerly known as mental retardation).
It’s difficult to diagnose this disorder in babies, since the only signs may be subtle differences in facial features, a larger head circumference, or excess shyness.
Males
Fragile X syndrome in boys and men tends to produce more severe symptoms than in women. The majority of males affected by this disorder have a significant intellectual disability. Fragile X symptoms include a range of physical deformities such as large ears, large testicles, and a long face. They may also have flat feet, hyper-flexible joints, or double-jointed fingers.Common behavioral characteristics include autistic, ADD, or ADHD symptoms, social anxiety, poor eye contact, increased aggression, and hand-biting.
Females
Fragile X syndrome in girls produces less-intense intellectual disability than in men. Approximately one-third of girls with this disorder have a significant intellectual disability, and they display a milder form of the physical and behavioral symptoms seen in men.
Girls may also have slight learning disabilities in mathematics, difficulty paying attention, a delay in speech, poor social skills, and emotional problems such as anxiety, depression, or shyness.
What Causes Fragile X Syndrome?
A mutation in the gene FMR-1 – located on the X chromosome – is responsible for this genetic disorder. Since women have two X chromosomes, they still have one that is perfectly functioning if the FMR-1 gene is affected in the other.
Men only have one X chromosome, which is why they are more severely affected.
The mutation is caused by a “stutter”, which is when a small section of genetic material within the gene is repeated too many times.
Most normal people without this syndrome have between 5 and 40 repeats of this section, yet those with the disorder have more than 200 repeats.
Once the repeats surpass 200, it is referred to as a full mutation. When a full mutation happens, the gene shuts off and does not continue to create the protein it is supposed to. These proteins aid in brain development, so problems arise when the correct amount of proteins are not produced.
How is Fragile X Inherited?
When an individual has a normal amount of repeats, they do not carry the disorder and therefore cannot pass it on to their children.
When a person has a medium amount of repeats (typically between 41-58), their children are not at risk for fragile X syndrome, though their grandchildren or great-great-grandchildren can be at risk due to the possibility of an increase in repeats throughout generations.
Those with pre mutations (59-200 repeats) can pass the syndrome to their child due to the risk of the increased number of repeats. However, since the mutation only affects the X chromosome, only a woman can pass the syndrome on.
A man with the pre mutation can pass the pre mutation to his daughter, though it will not develop into a full mutation and he cannot pass the premutation to his son. Women who are fragile X carriers having either a pre mutation or a full mutation have a 50% chance of passing fragile X syndrome to their offspring.
How is Fragile X Diagnosed?
Fragile X syndrome can be diagnosed through a blood test. The blood sample is sent off so that it can be tested for gene mutation. Boys with this disorder can be diagnosed as early as three years of age, while girls are typically diagnosed later around four years.
Fragile X Syndrome Treatment
Though there is no cure for this syndrome, treatments are available that help alleviate some of the symptoms. Some common medications prescribed are:
- Stimulants: Used for mood problems and hyperactivity
- Anti-depressants: Used for mood problems and anxiety
- Antiseizure drugs: Used for mood and behavior problems
- Antipsychotics: Used for mood problems and aggression
Those suffering from fragile X syndrome can also benefit from speech therapy, occupational therapy, and schooling through special education teachers. Help is available to allow these children to live happy, successful lives regardless of their disorder.
Learning about fragile X syndrome may help you determine the cause of your child’s autism, ADHD, or intellectual disability, or can simply help you better care for your child who is affected solely with this disorder.
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