Patient & Health Education: What Is Fragile X Syndrome? A Parent’s Guide
When couples find out they’re expecting, they naturally feel overwhelmed with emotions. Amidst fun, lighthearted questions like whether they’re having a boy or a girl are more serious concerns about their child’s potential health conditions – like fragile X syndrome, for example.
Being curious about your baby’s health is completely normal and even necessary. Fragile X syndrome (FXS) is a fairly common condition in children and adults. You should be familiar with the condition in case your child does have FXS.
Here is what you need to know about causes, symptoms, and signs of FXS, and how to help your child if they’re diagnosed with the condition.
What Is Fragile X Syndrome?
In short, FXS is a genetic condition. The U.S. National Library of Medicine says the condition can cause learning disabilities and cognitive impairments. While there is nothing wrong with developmental delays, several other signs can indicate the presence of FXS in young children and babies.
Children with FXS may experience delays in growth in comparison to children who do not have it. According to the Centers for Disease Control and Prevention (CDC), they may also have difficulty walking, learning new skills, and being social with others.
FXS occurs as a result of a mutation – specifically, a triplet expansion – in the FMR1 gene, a protein found in tissues like the brain, testes, and ovaries. In other words, the gene is enlarged compared to the average FMR1 gene.
Who Is Most At Risk for Fragile X Syndrome?
Any child can get FXS, but some are potentially more at risk of having the condition than others. FXS can cause moderate intellectual disability in all children but is most commonly found in males.
Boys with FXS have some distinguishable features, including a long face and a larger head and ears. As boys with FXS grow older and wiser, they tend to go through two different phases.
When they are young, they commonly throw tantrums and are extremely hyperactive. As they get older, they may display poor eye contact and have a difficult time focusing.
Just because boys are more likely to get FXS than girls does not mean girls are immune. Girls with FXS will display similar behavior to boys, though symptoms are typically milder.
How Can You Help Your Child Through FXS?
Although there is no cure for FXS, you can find ways to help your child cope with it. Some ways you can help your child grow are different forms of therapy, some medication if desired, and lots of love.
The CDC suggests forms of therapy such as walking, speech, and social therapies. Therapists can teach your child the necessary skills to grow and become confident.
You can also give your child medication to help improve behavioral issues as he or she gets older. Speaking with your doctor is the best thing you can do to determine what will help your child feel happy and healthy.
Screening Test Possibilities
With NTD's new carrier screening, parents can get themselves or their babies tested for various medical conditions, including FXS. If you’re curious about whether you or your child could have FXS, we encourage you to get screened.
Knowing what types of conditions to expect in your child before they’re born can better prepare you for their special needs and help you plan for your family’s future with confidence.
Consult your doctor today to figure out which of our screening tests is the right fit for your family.
––
References
- Centers for Disease Control and Prevention. (2020). Fragile X Syndrome (FXS). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/fxs/facts.html
- Peng, J., Warren, S. T. (2000). Understanding the molecular basis of fragile X syndrome. Human Molecular Genetics, 9(6). https://academic.oup.com/hmg/article/9/6/901/618655
- U.S. National Library of Medicine. (2020). Fragile X Syndrome. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/fragile-x-syndrome
The information provided represents the general opinions of NTD Eurofins and is not intended to be used as specific advice for any one individual. Individuals should always consult with a physician to obtain specific advice and to receive answers to any and all questions or concerns related to health, wellness, pregnancy, and birth.