What Is Fragile X Syndrome?

What is Fragile X Syndrome and how is Fragile X Syndrome discovered? Learn about the symptoms of Fragile X Syndrome

Fragile X Syndrome

When a child is experiencing developmental delays, it can be frustrating for everyone involved. The child becomes frustrated with their inability to do what peers are doing. Parents are unsure how to handle these delays, and other care providers may not be fully prepared to handle issues.

Talking to your pediatrician about these concerns is an excellent first step to ensure your child can get the care necessary to help them advance and catch up with peers. One potential genetic condition contributing to a child’s developmental delays is known as fragile X syndrome.

What Is Fragile X Syndrome?

What Is Fragile X Syndrome

Fragile X Syndrome is a genetic disorder that affects many aspects of a child’s life. One of the first signs for many children is language delays by 2. This form of mental retardation affects about 1 in 4,000 males and 1 in 8,000 females. A mutation of the FMR1 gene causes the condition.

This segment is typically repeated between five and 40 times in the average person. However, children affected by fragile X see this segment repeating up to 200 times. This disrupts the creation of a specific protein called the fragile X protein, a lack of which causes the delays. Because males only have one X chromosome, this condition can profoundly affect them.

What Causes Fragile X Syndrome?

Because this condition is a genetic disorder, it is caused by a gene mutation that happens at random. This condition typically occurs when individuals have a premutation of the X sex chromosome. This can occur in both men and women. Because it is a premutation, the individual will not experience any of the symptoms of fragile X syndrome. However, any children they have are at risk of developing the condition.

For boys who have an X and a Y chromosome, the effects of the condition are often more severe than girls who have 2 X chromosomes. This is because they will have one healthy X chromosome and work to balance out some of the effects of the defective chromosome.

Fragile X Syndrome Symptoms

Many conditions can cause development delays, such as those often associated with fragile X syndrome. For this reason, it’s important to discuss your concerns with the pediatrician as soon as you suspect your child may be suffering from developmental delays. This is also why paediatricians will ask extensive questions about development during regular checkups. Learning about the symptoms of fragile X syndrome will help you determine when to discuss your concerns with a doctor. The symptoms in boys and girls can vary slightly.

For boys, the symptoms typically include:

  • Intellectual disabilities
  • Unusual features, such as a long face, large ears, soft skin and large testicles
  • Connective tissues issues, including flat feet, high arched palate, hyper-flexible joints and ear infections
  • Behavior problems, such as ADHD, ADD, social anxiety, autistic behaviors, sensory issues, aggression and poor eye contact

For girls, the symptoms can be similar but are typically less pronounced. This can make it more challenging to diagnose in girls and allow them to live a more normal lifestyle than their male counterparts. For most girls, the symptoms are mild, though some can experience moderate or severe symptoms.

How Is It Diagnosed?

If you suspect your child may have fragile X syndrome, it’s essential to discuss the possibility with your pediatrician. To diagnose this condition, several steps will help confirm the diagnosis. First, your doctor will ask about the symptoms you are noticing. They will also discuss any family history of the condition or symptoms in other members of the family that could indicate the presence of the mutated gene. Who will then conduct molecular genetic testing to detect the presence of the gene mutation?

Parents typically notice symptoms in their child around 12 months for boys and 16 months for girls. Boys are diagnosed at the age of 35 to 37 months on average, while girls receive their diagnosis around 42 months. According to the Centers for Disease Control and Prevention, more than a third of families with a child with this diagnosis required more than 10 appointments before receiving their diagnosis.

Fragile X Syndrome Treatments

Once a child receives the diagnosis of fragile X Syndrome, the doctor will work closely with parents to determine the best course of treatment. Supportive therapy is often the best course of action to help children overcome their delays and become active, contributing members of society. For many children, Who may consider the following options for treatment:

  • Special education environments — Placing a child with fragile X in a special education setting will remove unnecessary stimulation that can cause behavioral issues that result from their frustrations.
  • Medication — Who can often use some medications in conjunction with other therapies to help manage a child’s issues associated with fragile X, such as being impulsive.
  • Early intervention — The earlier the condition is handled, the better chance a child can live a more normal life.
  • Vocational training — As a child gets older, they may enter vocational training to learn how to complete regular tasks they will need to live alone and have a meaningful career.
  • Medical treatment — Children with fragile X syndrome often experience other medical conditions, including vision, hearing and heart problems. These issues are treated the same way as with other individuals who suffer from them.

Working closely with your child’s doctor, you will be able to determine the best course of action for your child. It may take a little time to find the right plan in some situations.

Fragile X Syndrome Facts

The exact number of people who suffer from fragile X syndrome or have the premutation of the gene is unknown. However, it is thought as many as 1 in 151 females and 1 in 468 males have the premutation of the gene. About 23 per cent of those with the premutation go on to have a child with this disability, while 12 per cent of parents without the premutation will have a child with fragile X syndrome. This means people are almost twice as likely to have a child with the condition with a premutation than without.

Symptoms of this condition also vary widely among those who have received a diagnosis. For instance, when it comes to men:

  • 45 per cent suffer from attention problems
  • 36 per cent experience anxiety
  • 32 per cent have developmental delays
  • 30 per cent are categorized as hyperactive

For women, the top symptoms include:

  • Anxiety at 31 per cent
  • Depression in 28 per cent
  • Attention problems for 14 per cent

The Cost of Fragile X

Receiving this type of medical diagnosis isn’t easy. One of the most prominent concerns families have is the cost of raising a child with fragile X syndrome. Approximately 47 per cent of families feel this condition is a financial burden on their family. This may be because 62 per cent report having to change their hours at work or stop working altogether to care for a special needs child. For this reason, it’s essential to reach out to available resources for both emotional and financial support.

The National Fragile X Foundation was created to help families overcome this diagnosis and get their required help. Families can learn more about the condition, find a local support group, learn about clinical trials or discover international conventions you may wish to attend. You may even wish to sign up at the Fragile X Research Registry to be notified when new studies are completed. These resources can help you come to terms with the diagnosis and get the support you and your child need to improve your quality of life.

A fragile X syndrome diagnosis is not the end of the world, but it can certainly feel like it at the time. While many children with this condition will need assistance throughout their lives, getting the proper treatment from an early age can give them a good chance at a more normal life. If you suspect anything may be wrong with your child, don’t hesitate to talk to the pediatrician about your concerns so you can get your child the help they need immediately.