Fragile X Syndrome (FXS) is a genetic disease caused by abnormalities in the FMR1 gene in the body. This results in the body not being able to create proteins necessary for brain development, causing patients to have developmental and learning disabilities since childhood, intellectual disabilities, and in some cases, mental illness.
Fragile X Syndrome, also known as Martin-Bell Syndrome, can occur in both males and females, but is more common in males and tends to have more severe symptoms than females. Patients with this disease often cannot live on their own, so they need special care and appropriate treatment to develop various skills so that they can live with others in society.
Symptoms of Fragile X Syndrome
Symptoms usually start in childhood and continue throughout life. The symptoms and severity of Fragile X Syndrome vary from person to person, but common symptoms include:
- Development is slower than other children of the same age, both in terms of slow or obstructed communication and physical movement, such as standing, sitting, crawling, and walking.
- They have intellectual disabilities and a lower IQ than other children, which makes them slow to learn new skills.
- Have mental disorders such as attention deficit hyperactivitydisorder (ADHD), autism, generalized anxiety disorder, social anxiety disorder, and depression.
- There is a problem in controlling emotions and behavior. The patient is often restless, waving his hands, not making eye contact, having temper tantrums, and easily becoming frightened by large numbers of people, being touched, hearing sounds, and touching certain surfaces.
- They have abnormal physical characteristics, such as a long, narrow face, a wide forehead, large and protruding ears, a high-arched palate, a prominent jaw, lazy eyes, excessive bending of joints in the body, and flat feet.
- Other problems and abnormalities found in some patients include obesity, seizures, sleep problems, pregnancy problems, early menopause, aggressive behavior, and self-harm.
The symptoms of Fragile X Syndrome are more severe in males than females, and males are more likely to have learning and developmental disorders than females.
Causes of Fragile X Syndrome
Fragile X Syndrome is a genetic disease caused by mutations that increase the number of CGG repeats, which are DNA fragments in the FMR1 gene on the sex chromosomes. Normal people have between 5 and 40 CGG repeats, but when a mutation occurs, the number of CGG repeats increases to more than 200 (CGG Triplet Repeats).
Such abnormalities in the FMR1 gene cause the body to suppress the production of the FMRP protein, which is important for normal nervous system function, resulting in intellectual, developmental, and learning disorders.
People with Fragile X Syndrome will show symptoms when they have more than 200 CGG repeats, and symptoms are more severe with many CGG repeats. People with 55–200 CGG repeats will not show symptoms of Fragile X Syndrome, but they can pass it on to the next generation.
However, some people may not have symptoms of Fragile X Syndrome even with a defect in the FMR1 gene because their bodies can still make the FMRP protein, such as people with mosaicism, people with a small number of mutations, and women, who are less likely to develop the disease than men.
Diagnosis of Fragile X Syndrome
Diagnosis of Fragile X Syndrome can be done by DNA testing. The first case is testing during pregnancy. However, if someone in the family has a history of Primary Ovarian Insufficiency, you should get tested before pregnancy because you are at higher risk of developing this disease than the general population. The doctor will use amniocentesis or placental biopsy to check for abnormalities in the fetus and plan postpartum care.
Another way is to test DNA from blood to look for changes in the FMR1 gene. This is done in newborns who have shown signs of Fragile X Syndrome and adults who have risk factors because they may be carriers of the disease, including:
- People who have a family history of Fragile X Syndrome or intellectual disability
- People with intellectual disabilities, developmental delays, or learning disabilities associated with Fragile X Syndrome, such as anxiety, attention deficit disorder, or autism spectrum disorders.
- People over 50 years of age who have problems with balance and walking, tremors, and dementia.
- Women who have fertility problems or who enter menopause before age 40
Treatment of Fragile X Syndrome
Fragile X Syndrome cannot be completely cured. Treatment focuses on developing the skills needed for daily living for patients, such as physical movement, speech and language therapy, interaction with others, behavioral therapy, and occupational therapy to restore the ability to perform daily activities and work.
In addition, it may be treated in conjunction with medication according to the patient’s symptoms, including:
- Anticonvulsants and mood stabilizers, such as gabapentin
- Medications for treating aggression and obsessive-compulsive disorder, such as fluoxetine and sertraline.
- ADHD medications, such as methylphenidate, dextroamphetamine, and venlafaxine.
- Medications that help with sleep, such as trazodone
However, caring for patients with Fragile X Syndrome requires time and cooperation from parents, doctors, therapists, and teachers to help children develop sufficient skills for daily life. If patients receive early care and treatment, they will be able to recover their development and other abnormalities better.
Complications of Fragile X Syndrome
Fragile X Syndrome may not cause other complications, but the symptoms of patients will have a negative impact on daily life, such as having more sensitive senses and reacting to stimuli in the environment than the general population, having problems sleeping, having seizures, as well as having mental health problems such as aggression, anxiety, depression, self-harm, and may lead to autism, attention deficit hyperactivity disorder, and social phobia.
Prevention of Fragile X Syndrome
Fragile X Syndrome is a genetic disease that cannot be prevented. Women who are planning to become pregnant or are pregnant, especially those with a family history of Fragile X Syndrome, premature ovarian failure, intellectual disability, fertility problems, or menopause before the age of 40 should consult a doctor and get tested for abnormalities in the FMR1 gene to plan postpartum care.
