Overview of Fragile X Syndrome
Fragile X syndrome (FXS), also known as Martin-Bell syndrome, is an inherited genetic disorder characterized by intellectual and developmental disabilities. It is the most common inherited cause of mental retardation in boys, affecting 1 in 4,000 children, compared to about 1 in 8,000 in girls. Boys usually have more severe symptoms than girls. People with FXS often face many developmental and learning challenges. FXS is a chronic or lifelong condition, and while some people are able to live independently, many people require ongoing support.
- Fragile is the most common inherited cause of mental retardation, occurring more often in boys (1 in 4,000) than in girls (1 in 8,000).
- FXS is a lifelong condition, many of which require ongoing support.
Importance of understanding the condition
Fragile X syndrome is a genetic disease that affects both boys and girls. Boys usually have more severe symptoms, including intellectual disability, while girls may have milder symptoms. These symptoms often include behavioral problems, such as delays in motor skills and language development, and autism-like behaviors. This syndrome is caused by mutations in the FMR1 gene, which is important for proper cell function.
This mutation causes a loss or reduction of a protein called FMRP. People with Fragile X syndrome have an increased number of repeat sequences in the FMR1 gene, which cause chemical changes that prevent the production of FMRP.
Some people have fewer repeats without showing symptoms, but they can still pass the mutation on to their children, increasing the risk of Fragile X syndrome. Additionally, these individuals may be at risk for other related medical conditions, such as: Fragility X Tremor Ataxia Syndrome and Primary Ovarian Insufficiency.
Understanding the Symptoms of Fragile X Syndrome
Fragile X syndrome (FXS) affects learning, development, and behavior. Boys usually have some degree of intellectual disability, while girls may have varying degrees of intellectual or learning difficulties. Some girls with FXS may have normal intelligence.
- Symptoms include delays in reaching developmental milestones such as sitting and speaking, language disorders such as stuttering, learning difficulties, anxiety, impulsivity, attention problems.
- Difficulty with eye contact and body language. Includes social problems such as difficulty in understanding.
- Hyperactivity, seizures, depression, and sleep disorders may also occur.
- Some FXS patients may have physical characteristics such as a protruding jaw, elongated face, protruding ears, and loose joints.
Key Takeaway: Symptoms include developmental delays, learning difficulties, anxiety, impulsivity, attention problems, social challenges, and autism-like behaviors. Physical characteristics include a protruding jaw, elongated face, protruding ears, and loose joints. Symptoms vary, but boys usually experience more severe effects. Even if symptoms are mild or not immediately obvious, a diagnosis may be made based on family history.
What are the Causes of Fragile X Syndrome?
Fragile X syndrome (FXS) is caused by mutations in the FMR1 gene on the X chromosome, one of the two sex chromosomes. Women have two X chromosomes, while men have one X and one Y chromosome. The mutation disrupts the production of a key protein known as fragile X mental retardation protein 1, which is essential for nervous system function. But its exact role is still unclear. Insufficient levels of this protein cause symptoms associated with FXS.
What are the health risks associated with carriers?
If you have a certain type of gene called a fragile X permutation, it can cause health problems. This is especially true for women and men who carry this gene. Women who are carriers are more likely to experience menopause earlier than normal, known as premature menopause. And men with this gene may be at risk for a condition called Fragile X Tremor Ataxia Syndrome (FXTAS).
FXTAS can cause tremors that worsen over time and problems with balance and walking. Men with this gene may also have an increased risk of dementia. If you think you are a carrier of this gene, it is important to talk to your doctor, especially if you have a child with Fragile X syndrome. In this way, your doctor can help address potential health problems.
The Diagnosis
For children with developmental delays or vulnerable conditions, diagnosis is usually between 35 and 37 months of age for boys and 41.6 months of age for girls. FXS diagnosis includes the FMR1 DNA test, which detects changes in the FMR1 gene associated with FXS. Based on the test results, further tests may be performed to assess the severity of the condition.
The Treatment
When treating frailty, you can receive support from teachers, therapists, family members, doctors, and trainers. Community resources are often available to support skill development, and in the United States, the National Fragile X Foundation provides information about specific treatments and educational plans at 800-688-8765. Medications commonly used for behavioral disorders such as attention deficit disorder (ADD) and anxiety disorders may be prescribed to treat FXS symptoms.
Common drugs include methylphenidate (Ritalin), guanfacine (Intunib), clonidine (Catapres), and sertraline (Zoloft), escitalopram (Lexapro), duloxetine (Cymbalta), and paroxetine (Paxil, Pexeva). These drugs reduce symptoms and improve the quality of life in patients with FXS.
How does the long-term outlook look?
Fragile X syndrome (FXS) is a lifelong condition that affects many aspects of life, including education, employment, and social interactions. According to national surveys, approximately 44% of women and 9% of men with FXS achieve high levels of independence in adulthood.
Most women with FXS have at least a high school diploma, and about half secure full-time employment. In contrast, the majority of men with FXS require assistance with daily living, and few have a high school diploma or full-time employment.
