Raising a child with special needs can be challenging for many families. Through exemplary, compassionate care, the Independent Living Association has become a valuable resource for parents, providing hope and insight, while creating opportunities for their children to gain self-sufficiency and lead bright, fulfilling lives. Our insights and experience help people to understand some of the conditions that can cause intellectual and developmental disabilities, and always with the goal of bringing about greater care, compassion and inclusivity.
What is Fragile X Syndrome
Fragile X Syndrome (FXS) is a genetic condition that causes several intellectual and developmental disabilities.
There are three different Fragile X-associated conditions:
- Fragile X Syndrome (full mutation)
- Fragile X-Associated Tremor/Ataxia Syndrome (premutation)
- Fragile X-Associated Primary Ovarian Insufficiency (premutation)
All three conditions are caused by changes to the FMR1 gene. This gene is an essential part of the creation of FMRP, a protein that helps to shuttle messenger RNA molecules between cells. The role of FMRP is complex and not entirely understood by modern medicine, although we do know that it is present in many tissues, including the brain, testes, and ovaries.
While mutations of the FMR1 gene can cause a range of mental and physical conditions, we’re going to look specifically at the first of the three: Fragile X Syndrome, or FXS for short.
Signs and Symptoms of FXS
While FXS shows no evidence of shortening the lifespan of those affected, it can cause a range of conditions that affect everyday life.
- Autism spectrum disorder
- Autistic-like or repetitive behaviors and/or ‘stimming’
- Social anxiety
- Potential to lash out in aggression
- Sensory disorders
- Difficulty with eye contact
- Long face
- Larger-than-average ears
- Excessively prone to ear infections
- Soft skin
- Macroorchidism (unusually large testes) post-puberty
- Flat footedness
- Arched palate
- Double-jointed fingers
- Hyper-flexible joints
- Moderate learning disabilities to severe intellectual disability
Overall, individuals with FXS are known to be kind, outgoing, and possess excellent visual/long-term memory.
FXS can affect both men and women, although it’s far more common—and usually more severe—when it presents in men. FXS affects approximately one in every 3,600-4,000 males and about one in every 4,000-6,000 females. Why does FXS seem to affect women less frequently? Not all women who possess the FMR1 full mutation are guaranteed to experience the behavioral, cognitive, or physical affectations of FXS. Meanwhile, the full FMR1 mutation in men results in a 100 percent likelihood of FXS.
It is worth noting that symptoms don’t always present the same way in males versus females. The behavioral, physical, and intellectual symptoms exhibited by men with FXS are often much milder in women when they do appear at all. Sometimes the signs in women are so slight, even unnoticeable, that they aren’t diagnosed with FXS until it’s identified in another family member. FXS most often manifests in women as mild to moderate learning disabilities, struggles with mental and emotional health, and general social anxiety.
What We Know About FXS
A recent study published in Nature Cell Biology may offer some new insights about FXS. Abnormalities in Fragile X Syndrome cells correlate to ‘glitches’ in the body’s quality control systems. As we know, FXS stems from a lack of FMR protein, which is essential for typical brain development.
The study links the lack of FMRP to misregulated nonsense-mediated mRNA decay, or NMD. Simply put, NMD aids in the improvement of cellular function and contributes to overall good health.
While all this may not mean much to the average non-biologist, what we can take away is this: we are making leaps and bounds in how we understand FXS.