Fragile X Syndrome is a disorder that you may be unfamiliar with, as it is relatively uncommon. According to statistics, it affects approximately 1 in 4,000 males and 1 in 8,000 females. It is classified as a genetic disorder and can cause a range of developmental problems, primarily learning and cognitive difficulties.
In this article, we will review the genetic causes of Fragile X, discuss the symptoms, and highlight the most effective treatment options
Fragile X is a disorder that a person inherits through their genes. Fragile X Syndrome is passed down through FMR1 genes in the body. If this specific gene has a mutation, then Fragile X can be inherited. The FMR1 gene is responsible for helping the body relay signals and when this gene has a mutation, it can cause the signs and symptoms that are associated with Fragile X Syndrome. Genetic testing is completed by a physician to verify a diagnosis.
If a person inherits Fragile X, the signs and symptoms are generally present by the age of two. Developmental delays, such as not meeting milestones on time (ex: rolling over, sitting, grasping, etc) and speech and language delays are typically the first signs of Fragile X.
There are several potential symptoms of this disorder and we will outline those below.
In terms of language, children with Fragile X may have difficulty speaking clearly, pronouncing words correctly, and may leave out parts of words or speech when talking. Social skills deficits will usually include trouble with eye contact, an inability to interpret social cues, and avoidance of social interactions.
There is a high prevalence of social anxiety among individuals with Fragile X, which often leads to social withdrawal. In addition, some children with Fragile X also receive a diagnosis of autism spectrum disorder, as the communication and social skills deficits are similar in both disorders.
The physical characteristics associated with Fragile X are more severe in males versus females and don’t become particularly noticeable until the child is close to puberty.
The physical characteristics can include a long, narrow face, prominent jaw and forehead, low muscle tone, hyper-extendable joints (especially in the fingers and hands), large ears, and flat feet. These physical characteristics are due to the way the gene mutates and affects physical development processes in the body.
As you’ve been reading, you have likely noticed that males are more likely to be diagnosed with Fragile X and when compared to females with Fragile X, their symptoms are more severe. Why is this? Each female is born with two X chromosomes, whereas males are born with both an X and Y chromosome. The mutated gene associated with Fragile X occurs on the X chromosome. Therefore, if a female is affected, they have a better chance of compensating for deficits because they have two X chromosomes, instead of just one, as males do. If a male has this genetic mutation, it is on the sole X chromosome, leading to a greater impact on development.
There is not a specific treatment for Fragile X Syndrome, however, there are options available to help manage and minimize the symptoms. As with any disorder, early intervention is crucial and this gives children the best opportunity to receive treatment that fully addresses their affected development. Below, we will summarize the most effective treatment options for Fragile X.
Most children with Fragile X have cognitive and intellectual delays, with some having severe needs. Due to this, it is essential that these children have the proper supports in the educational setting, and this usually involves an individualized education plan or IEP. An IEP is a formalized plan that outlines the specific learning needs of the child and how teachers can use strategies to support those needs. Some general interventions that will support children with Fragile X in the school setting include using visual aids, maintaining a routine and consistent schedule, providing warnings or advance notice for any routine changes, setting up a calm space to regroup, and teaching independent living skills.
It is common for children diagnosed with Fragile X Syndrome to have behavioral needs, specifically managing their emotions and using effective coping skills. A psychologist, counselor, or another qualified mental health professional can assist with assessing these behaviors and finding ways to better manage them.
In addition, due to the sensory sensitivities often experienced, an occupational therapist(OT) can be a helpful team member. An OT can formally assess sensory needs and make recommendations for treatment. For example, if a child is unusually sensitive to noise, an OT may recommend therapeutic headphones that can block out noise in certain settings in order to reduce behavioral incidents.
There are currently no medications approved by the Food and Drug Administration (FDA) for the specific treatment of Fragile X Syndrome. There are medications available to treat some of the various symptoms associated with the disorder.
These may include medications to manage seizures, mood disorders, ADHD, sleep disturbances, and anxiety. These options should be discussed with the child’s pediatrician and it should be noted that the best outcomes include a combination of medication and therapy.
Fragile X Syndrome is a genetic, inherited disorder that can cause physical, emotional, and intellectual difficulties for those affected. The symptoms of Fragile X can vary greatly, with some being minimally impacted and others experiencing pervasive symptoms.
Treatment is primarily focused on developing routines and interventions to assist with behavioral, sensory, and emotional needs. When the proper supports are in place, people with Fragile X Syndrome can experience great success in their environments.
We hope this article gave you a better understanding of Fragile X symptoms and how to assist with managing them.
Gilbertson, K.E. et al. (2019). Preventive care services and health behaviors in children with Fragile X Syndrome, Disability and Health Journal, 3, 120-145.
Wheeler, A.R., Hagerman, R., Malick, M., & Riley, C. (2017). , Implications of the FMR1 premutation for children, adolescents, adults, and their families, Pediatrics, 1 (139), 153-171.
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