Understanding Fragile X Syndrome

One of the most common causes of inherited intellectual disability is Fragile X syndrome

One of the most common causes of inherited intellectual disability is Fragile X syndrome. Fragile X Syndrome is a rare condition that's more common in males than females. The cause of the disease is a problem with a specific gene. This gene makes a certain protein needed for brain development and when little or none of this protein is made, this condition develops. A genetic blood test can diagnose this condition and the experts at Good Start Genetics are here to help.

Since this disease is at an intellectual level, there's no affect of life expectancy or no life threatening health concerns associated with this condition. The risks of a child having this condition is dependent on the specific type of mutation one has and should be discussed with a genetic counselor or your doctor. Good Start Genetics is setting new standards for genetic screening of inherited diseases.

This condition is more common in males than females, and the symptoms are usually more severe in males. This inherited intellectual disability affects about 1 in 5000 males and is passed down, ususally, from the mother. Fragile X syndrome is an X linked disorder meaining the X chromosome is the gene that causes the condition. Since women have two X chromosomes they have 2 copies of the gene so even if one mutates there's still another working copy and is why it's mainly inherited from the mother. Women are asymptomatic carriers.

Although there's no cure for this condition, treatment involves early intervention and management. This means that if there's a concern about your child having this condition, having the right testing facility,, that provides the assistance one needs is imperative for managing your child's condition. Identifying the signs of Fragile X Syndrome is the first step to management.

Signs of Fragile X Syndrome

Some early signs of this condition include:
• Delayed speech
• Delayed development milestones

Those individuals affected by Fragile X syndrome can display the following symptoms:
• Anxiety
• Hyeperactivity
• Autistic like behavior

There's also physical attributes that can signal Fragile X syndrome which are a long, narrow face, as well as, prominent ears.

About Good Start Genetics

Good Start Genetics's state of the art lab is located in Cambridge, MA. They are accredited by CAP (College of American Pathologists) and CLIA (Clinical Laboratory Improvement Amedments).

As a leader, Good Start Genetics, harnesses powerful, proprietary, and extensive NGS (next-generation sequencing) platforms in order to deliver the best in class tests. Their dedicated team that includes board certified medical geneticists, licesnsed genetic counselors and customer care specialists provide step by step support through the entire process of test selection to results analysis and reporting.

Their patient access program ensures access to tests regardless of their finances and they work with patients closely to simplify billing and reimbursement.

The symptoms can be treated with behavioral, educational, medications or physical therapy. Sometimes, a combination of treatments have the best effect. Getting diagnosis from Good Start Genetics and early treatment helps.

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