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Fragile X Syndrome
Fragile X syndrome, also known as Martin-Bell syndrome, is a genetic condition that affects a child's learning, behavior, appearance, and health. Symptoms can be mild or more severe, and boys often have a more serious form of the condition than girls.
Children born with this condition have developmental concerns, including learning disabilities and limits to mental functions. Special education and therapy can help with learning and developing skills according to their ability. Medications and other treatments can improve their behavior and physical symptoms.
Fragile X syndrome is a condition that affects a child's learning, behavior, appearance, and health. Children born with the condition have developmental concerns that can include learning disabilities and limits to mental functions. Special education and therapy can help with learning and developing skills, and medication and other treatments can improve their behavior and physical symptoms. (Photo Credit: E+/Getty Images)
People with fragile X may have several symptoms, including:
About 40% of individuals with fragile X also have autism.
If your child has both fragile X and autism, they're more likely to have seizures, sleep issues, more behavioral issues, and need more medications.
Almost 80% of children with fragile X also have attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD).
Some children with fragile X also have changes to their face and body that can include:
Signs of fragile X usually start with delayed speech and language trouble by the age of 2, along with delays in motor milestones. Boys are usually diagnosed around the age of 35-37 months. Girls are diagnosed around 42 months old. Symptoms are usually milder in girls. While most boys with fragile X have trouble with learning and development, girls usually don't have these issues.
Girls with fragile X sometimes have trouble getting pregnant when they grow up. They might also go into menopause earlier than usual.
The condition can also cause problems with:
Fragile X syndrome is passed down in families through a mutation in the FMR1 gene. The FMR1 gene, which is on the X chromosome, makes a protein called FMR that helps nerve cells talk to one another. A child needs this protein for their brain to develop normally. Children with fragile X make too little or none of it.
People with this condition also have more copies than usual of a DNA segment known as CGG. In most people, this segment repeats 5 to 40 times. In people with fragile X, it repeats more than 200 times. The more times this DNA segment repeats, the more serious the symptoms are.
A mother with the FMR1 gene change has a 50% chance of passing it to any of her children. A father can only pass it to his daughters.
Since the FMR1 gene is on the X chromosome, it is known as an X-linked condition. That means that all males who carry the gene mutation develop symptoms. As a result, boys are more likely to have fragile X than girls and often show more severe symptoms. Girls have two copies of the X chromosome, so even if one X chromosome has the gene change, the other copy can be fine.
About 1 in 151 females and 1 in 468 males carry something known as the FMR1 premutation. That means that their CGG segment repeats anywhere from 55 to 200 times. These pre-mutations usually don't impact their health, and they don't show symptoms. But people with pre-mutations can still pass the gene change on to their children. This gene can also change size as it passes from parent to offspring. This means it eventually could develop into a full-blown mutation.
The number isn't clear, but about 1 in 8,000 to 11,000 females have fragile X syndrome, while 1 in 4,000 to 7,000 males have the condition.
There aren't any risk factors for fragile X that you can control. If you have the FMR1 gene, your child could have it, too.
While there's no way to prevent fragile X syndrome, you may want to consider genetic testing.
These tests can be done during pregnancy to see if an unborn baby has fragile X:
After the child is born, a blood test can diagnose fragile X syndrome. This test looks for the FMR1 gene change.
Babies born with fragile X syndrome don't always show signs of it. The doctor might notice that the baby's head is larger than usual. As the child gets older, learning and behavior problems can start.
There are other reasons why adults may want to request fragile X testing. They include:
No medicine can cure fragile X. Treatments can help your child learn more easily and manage problem behaviors. The earlier you start it, the better. Options include:
Special education. Your child will need extra help with learning. It's important to set up an IEP or 504, which are education plans that guide the school in providing support. Your school may also provide:
Changes to surroundings. You'll want to make sure your child's environment, at home and at school, is set up for success. Some ways to do this include:
Medications. There are no medications to cure Fragile X. There are, however, different drugs that can help manage symptoms. Options include:
Many fragile X clinics have opened in the U.S. They can keep parents up-to-date on the latest research, including medications that may be newly available or in clinical trials. The National Fragile X Foundation can be a helpful resource in finding a clinic.
Fragile X syndrome can cause the following health complications:
Fragile X syndrome can also lead to learning and developmental conditions, such as intellectual disability, ADHD, aggression, and autism.
Many adults with fragile X syndrome require a high level of support in adulthood. About a third of women with fragile X can live independently, and almost half are able to have a full-time job. But only about 10% of men with fragile X can live on their own, and only about 20% have a full-time job.
Most people with a fragile X premutation don't show any symptoms. But some go on to develop a fragile X-associated disorder. The two most common conditions are:
Fragile X-associated primary ovarian insufficiency (FXPOI). Women with FXPOI go through menopause before the age of 40. They may also experience infertility.
Fragile X-associated tremor/ataxia syndrome (FXTAS). This is a nervous system disorder that can happen in older adults. It can cause:
The symptoms of fragile X aren't life-threatening. Your life expectancy with the condition is the same as that of anyone without it.
A lot of people with the condition are able to live successful lives on their own. About 8 in 20 women and 1 in 20 men with fragile X don't need help with daily activities.
Depending on the severity of fragile X, people with the condition can go to school, have conversations, read books, learn new ideas, and finish other tasks by themselves.
To learn more about fragile X syndrome, join a support group. You may also reach out to an organization like the National Fragile X Foundation for advice and resources.
There, you can learn about local events and groups for people with fragile X.
There are also resources for parents. If you recently found out that your child has fragile X, this site offers many tips, videos, and firsthand experiences to help you understand how to care for them.
Fragile X syndrome is a genetic condition that causes intellectual and developmental disability. It is more severe in males than in females. People with fragile X syndrome are also more likely to develop autism.
There aren't any risk factors for fragile X that you can control. If you have the FMR1 gene, your child could have it, too. It's diagnosed through genetic testing.
There's no "cure" for fragile X syndrome, but most people with it respond well to speech, occupational, and behavioral therapy. Some adults with fragile X syndrome are able to live independently and hold a full-time job. Others need more support. Many people with fragile X syndrome go on to lead long, fulfilling lives.
What kind of mutation is fragile X syndrome?
It's a genetic mutation. People with fragile X syndrome have changes in their FMR1 gene, which is on the X chromosome. It makes a protein called FMR that helps nerve cells talk to one another. People need this protein for their brains to develop normally. Individuals with fragile X make too little or none of it. They also have more copies than usual of a DNA segment known as CGG. In most people, this segment repeats 5 to 40 times. In people with fragile X, it repeats more than 200 times. The more times this DNA segment repeats, the more serious the symptoms are.
Is fragile X like autism?
People with fragile X have a higher incidence of autism than those without the condition. If your child has both fragile X and autism, they're more likely to have seizures, sleep issues, more behavioral issues, and need more medications.
What are the behaviors of fragile X syndrome?
People with fragile X syndrome have many different behaviors. Some of the more challenging ones include:
But those with fragile X have plenty of behavior strengths, too. They're great at imitation and have strong visual memories. People with fragile X can also be very social, and they like to help others.
Tourette Syndrome
Tourette syndrome is a neurological (nervous system) tic disorder. It causes people to make sudden movements or sounds they can't control. These are called tics. For example, someone with Tourette's might blink or clear their throat over and over again. Some people may blurt out words they don't intend to say.
Some treatments may help control tics, but some people don't need to take medications unless their symptoms bother them.
About 100,000 Americans have full-blown Tourette syndrome, but more people have a milder form of the disease. It often starts in childhood and affects more boys than girls. Symptoms often get better as children grow up. For some people, they go away completely.
Tourette syndrome is also sometimes called Tourette's or Tourette disorder.
Doctors don't know yet what causes Tourette syndrome. It's been linked to different parts of the brain, including the basal ganglia, frontal lobes, and cortex. The basal ganglia is the area that helps control body movements. The frontal lobes manage muscle control, among other things, while the cortex plays a role in how some parts of the brain communicate with each other. Researchers think that disruption in this brain network causes Tourette syndrome.
It could also result from abnormalities in neurotransmitters, which are cells that transmit messages to the brain. These include dopamine, serotonin, and norepinephrine.
There are other possible causes, but they haven't been proven. They include:
Is Tourette syndrome genetic?
Researchers believe that some part of Tourette syndrome or a milder form of tic disorder might be genetic, passed down through families. It's not clear yet how this happens, but someone with Tourette's has a 50% chance of passing it down to a child. Some families have clusters, groups of people who have Tourette syndrome while other families may just have one affected member. That said, up to 1 in 20 children with Tourette's don't have it in their family.
Tourette syndrome does affect more boys than girls.
Tics are the symptoms of Tourette syndrome. Some are too mild to be noticeable. Others happen often and are obvious. Stress, excitement, or being sick or tired can make them worse. Severe tics can be embarrassing and can affect your social life or work.
Before a motor tic appears, you may get a sensation that can feel like a tingle or tension. The movement (the tic) makes the sensation go away. You might be able to hold your tics back for a little while, but you probably can't stop them from happening.
There are two types of Tourette syndrome tics: motor tics (which involve body movements) and vocal tics (which involve your voice). Each of these types can be further divided into simple and complex tics.
Motor tics
Motor tics involve motor movement, and they can be simple or complex. Simple motor tics affect only a few parts of your body and might cause:
Complex motor tics typically involve more than one part of your body at a time. They include:
Vocal tics
Like motor tics, vocal tics can be simple or complex. Simple vocal tics include:
Complex vocal tics include:
Tourette's and swearing
One of the most puzzling symptoms of Tourette syndrome is coprolalia — the medical term for involuntarily swearing or making socially inappropriate or offensive comments. There is a motor equivalent of coprolalia called copropraxia. This is a complex motor tic that involves making obscene gestures. Television and movie portrayals of people with Tourette's often use these tics for effect, so they may seem common, but they're not. Most people with Tourette's do not have coprolalia or copropraxia.
Researchers believe this happens when the brain messages that stop people from making those comments or movements are mixed up. And just as unwanted motor tics can happen, swearing or inappropriate language and behavior may come out without you being able to stop it.
Other symptoms
Doctors aren't sure why, but about half of people with Tourette's also have symptoms of attention deficit hyperactivity disorder (ADHD). You may have trouble paying attention, sitting still, and finishing tasks.
Tourette syndrome can also be associated with:
Tourette syndrome is most often diagnosed in children but it's possible to be diagnosed as an adult.
There are no specific tests for Tourette syndrome. So if you're concerned you or your child have it, the diagnosis is based on the information you provide and what the doctor sees. They might have to rule out other problems that cause tics though. Sometimes, tics have a simple explanation; for instance, constant blinking may be due to vision problems, or excessive sniffing may result from allergies. In such cases, you or your child might be sent for tests such as blood tests or imaging tests (such as an MRI). Another test that might be recommended is an electroencephalogram (EEG), which looks at your brain waves.
The questions your doctor might ask could include:
Your doctor will also evaluate certain criteria, such as if the tics:
Questions for your doctor
Learning about Tourette syndrome can be overwhelming. Here are some questions you may ask your doctor to understand what it means to have Tourette syndrome.
There's no cure for Tourette syndrome. For many people, the tics are mild and don't need to be treated. If they become a problem though, your doctor may prescribe medication. It can take a while to find the right dose that helps control tics but avoids or limits side effects, so you and your doctor will need to work together to find what works for you.
Medication for Tourette syndrome
There are several types of medications your doctor can choose from. You might recognize some of the names as drugs used to treat other diseases or disorders. This is because they're drugs that were originally approved for those conditions, but doctors found that they also can help reduce tics. They include:
Therapy
There are a few types of therapy that could be useful for some people with Tourette syndrome.
Talk therapy or psychotherapy
This type of therapy, usually with a psychologist or trained therapist, helps you learn how to deal with Tourette syndrome, as well as other problems that you may have. For example, you may also be dealing with ADHD, obsessions, depression, or anxiety. Dealing with one condition could help you manage others.
Cognitive behavioral therapy (CBT)
Like psychotherapy, cognitive behavior therapy (CBT) is done with a psychologistor trained therapist. The goal is to help you identify certain behaviors and modify them or your reaction to them. There is a type of CBT that is specific for Tourette syndrome, called Cognitive Behavioral Interventions for Tics.
Deep brain stimulation (DBS)
This type of therapy is in the early research stages for Tourette syndrome that doesn't respond to other treatments and is so severe that it's affecting your life. Researchers don't know yet if it's effective. DBS involves implanting a device into your brain. Once in place, the device sends out electrical impulses to stimulate the target areas that control movement.
Often, the hardest part of living with Tourette's is dealing with the embarrassment or frustration of having tics you can't control. While you're getting help from your doctor, you can do a few other things to feel better:
Educate yourself and others. Educating yourself about Tourette syndrome is important, but so is educating family and friends. The more they know about the condition, the better they can help you. You can give them pamphlets or brochures if you have any, or you can send them to a Tourette syndrome association site, such as the Tourette Association of America.
Get support. Your family, friends, health care team, or a support group can help you meet the challenges of Tourette's. Ask for that support and tell them what it is you need from them.
Follow your treatment plan. Whether it's meeting with a therapist or taking medications, be sure to follow your treatment plans. If you have trouble doing this, speak with your doctor. There may be other things you can do.
Stay active. Play sports, paint, or volunteer — anything that helps keep you busy and helps you feel good. These activities may take your mind off your symptoms.
Relax. Read a book, listen to music, meditate, or do yoga. Low-key activities you enjoy can combat the stress that can lead to tics.
Parenting a child with Tourette syndrome can be challenging. In many cases, Tourette syndrome tics peak when children are in their early teens, and they improve as they get older.
In the meantime, here are some things that might help:
Don't tell or ask your child to stop their tics. It can be frustrating to see or hear the tics, but asking your child to control them can add to their stress and make the tics worse.
Speak to the adults in your child's life. Talk to the staff at their school about your child's diagnosis. You can give them the facts about the condition and see what kind of support they can provide, such as extra tutoring or smaller classes, perhaps. You can also inform the school bus driver, after-school day care staff, coaches, tutors, and anyone else who your child interacts with regularly.
Help build your child's self-esteem. Every child has different interests, so it can take time to find the right ones for your child, but once you do, this can make a big difference. They can form friendships and learn new things that help build their self-esteem.
Join support groups. See if you can find a local Tourette syndrome support group for parents. If there isn't one available, maybe you could start one!
Practice with your child. Fitting in socially also can be hard for a child with Tourette syndrome. Help them practice ways to handle teasing or comments from other kids.
Tourette syndrome causes a range of tics, from mild to severe. For those with mild to moderate tics, there may be no other issues for them to deal with. However, there are people with Tourette syndrome who also have to deal with other conditions at the same time. The ones most often associated with Tourette syndrome are:
Tourette syndrome, also called Tourette's or Tourette disorder, can affect anyone, but it affects more boys than girls. Most people with Tourette syndrome have symptoms that start in childhood, peak in the early teen years, and then lessen. There's no cure for the condition, but there are treatments and therapies that could lessen the strength of the tics.
Can Tourette's go away?
About one-third of children with tics from Tourette syndrome get better after their early teens. Another third stay the same, while the rest get worse. However, only about 2%-5% of those in the last group need significant help.
What are some of the early signs of Tourette syndrome in children?
Some early signs of Tourette syndrome in children include squinting their eyes or blinking a lot, shrugging, grimacing, twitching their nose, jerking their head, and foot tapping or stomping.
Is Tourette's related to anxiety?
Anxiety doesn't cause Tourette syndrome, but it can make the tics worse.
Can you live a normal life with Tourette's?
Most people with Tourette's do go on to live a normal, active life.
What not to do to someone with Tourette's
An important thing not to do with someone who has Tourette syndrome is to tell them to stop or control their tics. This can trigger stress and anxiety as they attempt to hold the tic back. The tics will come out and may be more forceful or frequent.
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