Fragile X syndrome (FXS) is a genetic disorder that is the most common cause of inherited mental retardation. Although often compared to autism, FXS is a comprehensive disorder, characterized by numerous physical and behavioral symptoms. FXS is a caused by trinucleotide repeats on the X chromosome, which prevents the production of the protein FMRP, that is necessary for normal brain functioning. It is important for parents, educators, and the general population to better understand this syndrome, as interventions must be targeted for the characteristics specific to FXS, rather than simply lumping it together with autism and expecting that those methods will be beneficial to the child.
Fragile X syndrome affects about one out of every five …show more content…
Parents typically note that their children begin exhibiting symptoms around 12 months for boys and 16 months for girls (“Fragile X Syndrome (FXS),” 2015). At this point, parents often address their concerns with the child’s pediatrician. Screening for FXS is typically done via a blood DNA test, which takes 2-4 weeks, and must be ordered by a physician or genetic counselor (Fragile X Syndrome, 2016).The benefit of this requirement is that the physician or genetic counselor can help explain the results of the test and its implications, and help the family seek the appropriate interventions and support for their child’s diagnosis. Unfortunately, the test is costly, ranging from $300-600 (Fragile X Syndrome, 2016). Even if the family has insurance, it still may be a financial burden. DNA testing is still a relatively new medical technique and many insurance companies fail to cover it, especially if it does not fall into the category of preventative care. The average age of diagnosis is 36 months for boys and 42 months for girls (“Fragile X Syndrome (FXS),” 2015). This difference may be a result of boys showing more severe symptoms of the syndrome, whereas girls show a milder case. Additionally, the average time between beginning to show symptoms and a diagnosis is 24-26 months. This is a long time for a concerned parent to wait and could potentially prevent the child from receiving immediate interventions. It is likely that part of the reason for this is that FXS is not a widely known syndrome. While everyone hears about autism, this syndrome is not widely discussed or publicize,d so parents and even health care providers may not know what they are looking
Fragile X syndrome affects about one out of every five …show more content…
Parents typically note that their children begin exhibiting symptoms around 12 months for boys and 16 months for girls (“Fragile X Syndrome (FXS),” 2015). At this point, parents often address their concerns with the child’s pediatrician. Screening for FXS is typically done via a blood DNA test, which takes 2-4 weeks, and must be ordered by a physician or genetic counselor (Fragile X Syndrome, 2016).The benefit of this requirement is that the physician or genetic counselor can help explain the results of the test and its implications, and help the family seek the appropriate interventions and support for their child’s diagnosis. Unfortunately, the test is costly, ranging from $300-600 (Fragile X Syndrome, 2016). Even if the family has insurance, it still may be a financial burden. DNA testing is still a relatively new medical technique and many insurance companies fail to cover it, especially if it does not fall into the category of preventative care. The average age of diagnosis is 36 months for boys and 42 months for girls (“Fragile X Syndrome (FXS),” 2015). This difference may be a result of boys showing more severe symptoms of the syndrome, whereas girls show a milder case. Additionally, the average time between beginning to show symptoms and a diagnosis is 24-26 months. This is a long time for a concerned parent to wait and could potentially prevent the child from receiving immediate interventions. It is likely that part of the reason for this is that FXS is not a widely known syndrome. While everyone hears about autism, this syndrome is not widely discussed or publicize,d so parents and even health care providers may not know what they are looking