Fragile X Syndrome in Children

Fragile X Syndrome (FXS) is a genetic disorder that causes developmental delays in a child. It can affect both males and females but is more common among the males. It can cause delays in both physical and intellectual development. Children with this syndrome may be late in walking, running, talking, language development, or even have anxiety or attention deficit disorders.

A gene known as FMR1 is responsible for making the protein FMRP. The brain requires FMRP for proper development. When the cells do not make this protein, it causes Fragile X Syndrome.

CGG – a DNA segment in humans repeats about 5 to 40 times. For those with FXS, it repeats over 200 times. The higher the repetition, the more serious the condition is. The more serious the condition, the lesser FMR protein the brain receives.

FXS is the most common genetic disorder that leads to autism and intellectual disability in children. Both the mother and the father can carry and pass on this defective gene to their children.

Causes of Fragile X Syndrome in Children

When the FMR1 gene does not make a sufficient amount of FMR protein, it reduces the communication between the nerve cells and the brain, thus resulting in Fragile X syndrome.

If the FMR1 can make some of the protein but not enough for proper brain development, it can result in Fragile X related disorders. It affects a gene on the X chromosome, because of which this condition is more common among males than females.

Every male gets one X chromosome and one Y chromosome, unlike females who get 2 X chromosomes. So, if the male inherits the defective X chromosome, his body cannot produce the FMRP protein at all. If a female inherits the defective X chromosome, she still has another healthy X chromosome. This is why Fragile X syndrome is more common among males.

If the mother is a carrier of the defective gene, she can pass it on to any of her children, irrespective of their gender. As both males and females get their X-chromosomes from the mother, the defective gene present on the X-chromosome spectrum will transfer to the baby.

If the father is a carrier, he can transfer it only to his female children. Since the males get their Y-chromosomes from the father, the defective gene on the X-chromosome spectrum does not transfer to male children. As the female children get their other set of X-chromosomes from their father, the defective gene can transfer to them.

So, if a girl child has this disorder, she is at a higher risk of birthing a child with the syndrome as it can impact the cells that develop into her eggs.

Diagnosis of Fragile X Syndrome in Children

Since it is a genetic condition, only a blood test can confirm the diagnosis of Fragile X Syndrome. If your child is showing any of the following symptoms, you need to check with your doctor without any delay-

• A delay in walking or talking
• Makes no or very little eye contact
• Difficulty in paying attention
• Has difficulty in learning
• Autism Spectrum Disorder
• Recurrent ear infections
• Unable to sleep properly
• Anxiety or hyperactive

If you or your partner have a family history of FXS, you can test the unborn baby’s genes during pregnancy itself. The doctor will check the amniotic fluid or the placenta as that is where the baby is growing and developing. Amniocentesis is the testing of the amniotic fluid and Chorionic Villus Sampling is the testing of the placenta.

Treatment Options For Fragile X Syndrome in Children

Unfortunately, Fragile X Syndrome does not have any cure yet. There are treatments to help the person with this syndrome to learn different skills. Treatment can help them learn to interact with others, walk, talk, and control their anxiety and emotions.

When a child has a learning disability or developmental delay, it can be very stressful for both the child and the family. The family, before the diagnosis may stress over how the child is not developing on par with their peers. They may in turn pressurize the child to do things they are not physically or intellectually ready for. This in turn can increase their anxiety and worsen their behavioral symptoms.

After a diagnosis, the family can start relevant treatment and help the child reach their milestones. When the family and primary caregivers learn more about the disorder and how it can impact the child, they can be more patient and understanding with the child. It is this support that such a child needs to overcome the difficulties and achieve milestones.

When to See a Doctor?

Do you notice any of the signs or symptoms of Fragile X syndrome? If your child is having trouble meeting their milestones, consult your doctor. Some children may just need a little more time than others to meet their milestones. However, if you feel your child is not on par with other children their age, you can ask your doctor for genetic testing.

How to Help Your Child With Fragile X Syndrome?

When your child shows a delay in development, it can be quite stressful. Not every parent suspects a learning disability or a defective gene to be the reason behind their child’s delays. So, receiving a diagnosis of Fragile X Syndrome in children can be tough on the parents. Here is what you can do-

• Seek professional help for your child according to your doctor’s advice. Professionals with experience in handling such cases will know how to help and what pace to set for your child
• Join a support group as talking to and hearing stories of other fellow parents can be reassuring. Knowing you are not alone and others are facing challenges just like you can make you feel less lonely
• Work with the professionals to help your child develop their skills. Refrain from comparing or shaming your child as it is not their fault and they need your help and support

Developmental delays are not uncommon. However, you need to be patient and give your child enough time before you decide they have a disability. If your child has FXS, you can help your child lead a normal life with extra support and care.

FAQ’s

1. Who Passes on The Fragile X Syndrome – The Mother or The Father?

Both parents can pass on the defective gene. While the mothers can pass it on to their sons or daughters, the fathers can pass it on only to their daughters.

2. Is Fragile X Syndrome Curable?

Unfortunately, there is no cure for FXS as it is a genetic disorder. Appropriate treatments and services can help improve a child’s condition to lead a close-to-normal life.