When a child is experiencing developmental delays, it can be frustrating for everyone involved. The child becomes frustrated with his or her inability to do what peers are doing. Parents are usually unsure how to handle these delays, and other care providers may not be fully prepared to handle issues either. Talking to your pediatrician about these concerns is an excellent first step to ensure your child can get the care necessary to help him or her advance and catch up with peers. One potential genetic condition that could be contributing to a child’s developmental delays is known as 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 the age of 2. This form of retardation is different from speech delay.
What Causes Fragile X Syndrome?
Because this condition is a genetic disorder, it is caused by a mutation of a gene 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 X chromosome that is healthy and works to balance out some of the effects of the defective chromosome.
Fragile X Syndrome Symptoms
There are many conditions that 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 part of the reason pediatricians 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 difficult to diagnose in girls and can 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 important to discuss the possibility with your pediatrician. In order to diagnose this condition, There are several steps that will take place to help confirm the diagnosis. First, your doctor will ask about the symptoms you are noticing. He or she 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. Molecular genetic testing will then be conducted to detect the presence of the gene mutation.
Parents typically notice symptoms in their child around the age of 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 Center 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, the following options may be considered 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 — There are medications that can often be used in conjunction with other therapies to help manage a child’s issues associated with fragile X, such as being impulsive.
- Early intervention — The early the condition is handled, the better chance a child has of living a more normal life.
- Vocational training — As a child gets older, he or she 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 as a result, including vision, hearing and heart problems. These issues are treated in 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. In some situations, it may take a little time to find the right plan.
Fragile X Syndrome Facts
The exact number of people who suffer from fragile X syndrome is unknown. However, it is thought that as many as 1 in 151 females and 1 in 468 males have this gene premutation. About 23 percent of those who have the premutation go on to have a child with this disability, while 12 percent 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 percent suffer from attention problems.
- 36 percent experience anxiety.
- 32 percent have developmental delays.
- 30 percent are categorized as hyperactive.
For women, the top symptoms include:
- Anxiety at 31 percent.
- Depression in 28 percent.
- Attention problems for 14 percent.
The Cost of Fragile X
Receiving this type of medical diagnosis isn’t easy. One of the biggest concerns families have is the cost of raising a child with fragile X syndrome. Approximately 47 percent of families feel this condition is a financial burden on their family. This may be because 62 percent report having to change their hours at work or stop working altogether to care for a special needs child. For this reason, it’s important 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 the help they require. 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 so you can be notified when new studies are completed. All of these resources can help you come to terms with the diagnosis and get the support you and your child will need to improve 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 right 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 he or she needs immediately.