Fragile X Syndrome Research Paper Example

đź“ŚCategory: Disorders, Health
đź“ŚWords: 829
đź“ŚPages: 4
đź“ŚPublished: 10 April 2022

Fragile X Syndrome, FXS, has never affected me or a close family member; however, it was a disorder that I have seen and interacted with that and I wished to understand. You see, my older sister Lauren has autism. Because of this, I have been lucky to surround myself with unique and inspiring individuals. One of those people was Josh. Josh is a young man who has Fragile X Syndrome and he was lucky enough to get to attend prom with my sister. Due to my interactions with Josh, I wanted to learn more about what made him special. This is the inspiration behind my decision to write this paper about Josh and everyone with FXS. 

Fragile X Syndrome: The Science Behind the Disease

The cause of Fragile X Syndrome is rooted in multiple gene repetitions in the FMR1 gene on the x chromosome (CDC, 2021). This mutation disrupts the formation of the FMRP protein, which aids in brain development, specifically in the synapses (CDC, 2021). People with FXS have over 200 repeats of the nucleotide sequence CGG, while the normal repetition is less than 40 (Medline, 2020). There are different ranges of CGG that can lead to full blown FXS or FXS associated disorders. There are normal alleles with 5-40 repetitions, permutation alleles with 50-200 repetitions, and lastly full mutation that contains the repetition of over 200 sequences (Bagnie et al., 2012). The prevalence of this disorder has been found to affect about 1 in 4,000 men and 1 in 8,000 women (Medline, 2020). There is an increased risk of the genetic mutation if the mother or father of a child falls into the permutation allele range (Dolen, 2009). Interestingly, Fragile X Syndrome does not follow typical Mendelian genetic rules in terms of inheritance, instead it can build over generations and once repittitions surpass the 200 range, FXS will be displayed (Dolen, 2009).

As for signs and symptoms, there are many that can lead parents to be concerned on the developmental growth of their children, but FXS can be hard to immediately diagnose due to other disorders that present similarly. There are five categories of signs and symptoms that can be seen through FXS, these include: intelligence/learning, physical, behavioral/social/emotional, speech and sensory (NIH, 2021). Intelligence and learning can be seen through trouble grasping new skills or a low IQ (CDC, 2021). People with FXS can display physcial symptoms, such as a narrow face, large ear, or flexible joints (NIH, 2021). Not everyone will display physical symptoms, especially before puberty, but it is not uncommon. As for behavioral, social, and emotional signs, these can be seen anxiety, difficulty making eye contact and hyperactivity (CDC, 2021). Speech signs are also seen with FXS, including stutters and speaking clearly (NIH, 2021). Lastly, sensory issues can present as children being bothered by varying sensations, like bright lights and loud signs (NIH, 2021). This can be referred to as overstimulation.

Societal and Culturual Implications of Fragile X

Due to the rarity of this disorder, many people have never heard of Fragile X Syndrome or met someone with this disorder. Although, disorders such as FXS that can present with intellectual disability are commonly seen in our society. FXS is the leading cause of inherited intellectual disability (NIH, 2021). Because of the increased recognition and appreciation of children and adults with intellectual disabilities, more programs have been created to integrate this population with the general society. This changes can bee seen through school programs, such as Best Buddies and Aggie Achieve. Additionally, more people with intellectual disabillities have been supported in the work force with varying jobs depending on skill level. This continued integration has allowed more people to become aware of these disabilities and the people who have them. Even though Fragile X was not the singular disorder that created this shift in our culture, it was on of many.

Treatments

Becuase this is a genetic disorder, there is no cure for Fragile X Syndrome. But, there are a plethora of options to treat the effects of FXS. The first is through medication. Different medication can be used and combined to aid in the behavioral symptoms of FXS, such as anxiety medication or ADHD medication (CDC, 2021). On the other hand, therapy can be a great option to help children with FXS meet their developmental milestones like walking and talking (CDC 2021). Therapy can be used throughout life to support the individual in their present and future life.

Modes of Preventation

As mentioned above, Fragile X Syndrome is a genetic disorder and due to the inheritance pattern, there is not much a person can do to avoid the mutation. Therefore, prevention is not as discussed as a way to decrease the cases of FXS. The only thing that can be done is to have a medical proffesional test your FMR1 gene from permutation alleles to see if your chances of passing it to offspring is increased. 

Professional Implications

As a future pediatric physician assistant, genetic disorders such as Fragile X are important to be aware of. There are many disorders that can lead to intellectual disability, especially in children, so it is imperative that a medical proffesional be knowledgable about varying disorders with similar presentations. I do not anticipate diagnosing FXS daily in my career, but understanding signs and symptoms and the implications for the child and parents can help me to be a petter physician assistant for my patients and their familes.

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