Fragile X Syndrome – Causes, Symptoms and Treatments!

Fragile X Syndrome – Causes, Symptoms and Treatments Everyone Should Know. In addition,  Fragile X Syndrome  is an inherited genetic disorder passed on from parents to children that causes intellectual and developmental disabilities. It is also known as Martin-Bell syndrome. Fragile X Syndrome is   the most common inherited cause of mental retardation in boys. This affects 1 in 4,000 boys.

It is less common in girls, affecting about 1 in 8,000. Boys usually have more severe symptoms than girls. People with Fragile X Syndrome often experience a range of developmental and learning issues. The disease is a chronic or lifelong condition. Only a few people with Fragile X Syndrome are able to live independently.

Cause of Fragile X Syndrome: Fragile  X Syndrome is caused by a defect in the FMR1 gene located on the X chromosome. The X chromosome is one of two types of sex chromosomes. The other is the Y chromosome. Women have two X chromosomes, while men have one X chromosome and one Y chromosome.

The defect, or mutation, in the FMR1 gene prevents the gene from properly producing a protein called fragile mental retardation protein X. This protein plays a role in the functioning of the nervous system. The exact function of the protein is not fully understood. The lack or scarcity of this protein causes characteristic symptoms of Fragile X Syndrome .

There Are Health Risks for Operators:  Being a carrier of fragile X permutation can increase your risk for several medical conditions. Tell your doctor if you think you may be a carrier or if you have a child with Fragile X Syndrome . This will help your doctor manage your care.

Women who are carriers are at increased risk of premature menopause , or menopause that begins before the age of 40. Men who are carriers are at increased risk for a condition known as fragile X tremor ataxia syndrome (FXTAS). FXTAS causes a tremor that gets worse and worse. It can also lead to difficulties with balance and walking. Male carriers may also be at greater risk for dementia.

How Fragile X Syndrome is Diagnosed:  Children who show signs of developmental delays or other outward symptoms of Fragile X Syndrome , such as a large head circumferenceor subtle differences in facial features at a young age, may be tested for Fragile X Syndrome . of Fragile X. Your child may also be tested if there is a family history of Fragile X Syndrome . The median age at diagnosis in boys is 35 to 37 months. In girls, the mean age at diagnosis is 41.6 months.

Fragile X Syndrome can be diagnosed using a DNA   blood test called the FMR1 DNA test. The test looks for changes in the FMR1 gene that are associated with Fragile X Syndrome . Depending on the results, your doctor may choose to do additional tests to determine the severity of the condition.

Symptoms of Fragile X Syndrome:  Fragile X Syndrome can cause learning disabilities, developmental delays, and social or behavioral problems. Deficiencies vary in severity. Boys with Fragile X Syndrome often have some level of intellectual disability.

Girls may have an intellectual disability or a learning disability, or both, but many with Fragile X Syndrome  will have normal intelligence. They can only be diagnosed with Fragile X Syndrome if another family member is also diagnosed. People with Fragile X Syndrome may show a combination of the following symptoms as children and throughout life:

• Developmental delays, such as taking longer than usual to sit, walk, or talk compared to other children of the same age
  choking.
• Intellectual and learning disabilities, such as having difficulty learning new skills.
• General or social anxiety .
• Autism .
• Impulsivity.
• Attention difficulties.
• Social issues such as not making eye contact with other people, not liking to be touched, and problems understanding body language.
• Hyperactivity.
• seizures.
• depression .
• Difficulty sleeping.

Some people with Fragile X Syndrome have physical abnormalities. These can include:

• A large forehead or ears, with a prominent jaw.
• An elongated face.
• Prominent ears , forehead and chin.
• Loose or flexible joints.
• flat foot.

Fragile X Syndrome Treatments: Fragile  X Syndrome cannot be cured. Treatment is intended to help people with the condition learn key language and social skills. This may involve getting additional help from teachers, therapists, family members, doctors and coaches. Medications that are normally prescribed for behavior disorders, such as attention deficit disorder (ADD) or anxiety , may be prescribed to treat the symptoms of Fragile X Syndrome . Medications include:

• Methylphenidate (Ritalin).
• Guanfacina (Intuniv).
• Clonidine (Catapres).

What Can Be Expected in the Long Term:  Fragile X Syndrome is a long term condition and can affect all aspects of life including a person’s schooling, work and social life.

Results from a national survey indicate that about 44 percent of women and 9 percent of men with Fragile X Syndrome achieve a high level of independence as adults.

Most women attained at least a high school diploma and about half managed to hold a full-time job. Most men with fragile X syndrome needed assistance with daily activities as adults. Few men in the survey earned a high school diploma or were able to find full-time work.

If you are concerned that you may be a carrier for the Fragile X Syndrome permutation , ask your doctor about genetic testing. They can help you understand your risks and what being a carrier means to you.