Fragile X Syndrome
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Fragile X Syndrome
Fragile X syndrome
Fragile X syndrome is a genetic condition that causes multiple developmental issues such as learning disabilities as well as cognitive impairment. After Down syndrome, Fragile X syndrome is considered to be the second cause of intellectual disability. It is more common in males than females and in most of the research studies its neuropsychiatric features are highlighted. It is one of the most frequent forms of the inherited disability linked with intellectual and psychiatric disorders. It is characterized by mental retardation, physical features, and behavioral features, etc. Fragile X syndrome is a common form of mental retardation and those who suffer from this disorder have delayed development of the speech at least they start learning the language when they become two years old.
Causes of Fragile X syndrome
Fragile X syndrome is caused because of the mutation or change in one of the genes called Fragile X Mental Retardation 1 (FMR1), which is located on the X chromosome and is responsible for making of Fragile X Mental Retardation Protein. This protein plays an essential role in creating as well as maintaining a link/connection between different cells of the brain. When the body becomes unable to make this protein and less amount of protein than the required, symptoms of Fragile X could be observed. It is important to keep in mind that not all the mutated FMR1 genes lead towards Fragile X syndrome as the body may still able to produce FMRP. Causes of the fragile X syndrome have certain factors such as the size of the mutation, the number of cells that are mutated and gender, etc. According to Claudia Bagni and colleagues, some people have smaller while some went through greater mutations if the mutation is not that greater, body makes proteins that help in making and maintaining a connection between the brain and nervous system cells. On the other hand, if the mutation is greater than the body fails to work normally and does not produce the required protein. In males, there is only one X chromosome as compared to the females who have two XX chromosomes, so in females, if by chance, one X chromosome got mutated, high chance is there that other would remain unaffected, so females have chances of having Fragile X syndrome as even if one gene is affected, still body could make required proteins.
Symptom of Fragile X syndrome
According to the research work of Leonard Abbeduto and his colleagues, people with Fragile X syndrome do not show same symptoms regarding this disorder, but there are some common symptoms that could specifically be associated with this disorder. This disorder affects the learning of the children as well as their behavior. As far as symptoms are concerned boys show often more serious symptoms than girls. A few of the most common symptoms of Fragile X syndrome include trouble in skills linked with learning such as sitting, walking and crawling, etc. According to Heather Fielding-Gebhardt and Steven F. Warren, other obvious symptoms of Fragile X syndrome are speech and language learning issues (Fielding-Gebhardt Warren, 2019). One who suffers from this psychological disorder shows symptoms of hand flapping no or less making of eye contact, temper tantrums, poor control over impulse, anxiety, self-destructive behavior most common in boys, aggression, being extremely sensitive towards sound and light, not being able to focus and being in state of hyperactivity most of the time. In some cases, there are clear symptoms of Fragile X syndrome such as some children went through some changes in their body and face over time. Large head, flat feet, loose joints, large chin and forehead, narrow face and long ears are other symptoms of Fragile X syndrome.
Fragile X syndrome Treatment
Keeping the severity of this genetic disorder in mind, it could be promulgated that no single treatment is there for treating Fragile X syndrome, though several treatments could be used for minimizing its symptoms. Individuals who suffer from Fragile X, use their skills and capabilities, if they are given proper therapy services, education, and medications and with these provisions of treatments people even with developmental and intellectual disabilities could learn self-help skills. According to Jayne Dixon Weber, supplements could be used for treating and provide care to the patients with FXS and one of the main roles would be played by the family in treating this disorder (Weber et al, 2019). Families could play a central role as family support and care is essential in improving the care of their family member suffering from FXS. Along with medications and therapies, family support is a significant factor that is being used as an advanced sort of treatment for dealing and providing assistance to FXS patients. Applied behavior analysis would also play an important for assisting in choosing treatment for dealing with individuals suffering from FXS.
Bagni, C., Tassone, F., Neri, G., Hagerman, R. (2012). Fragile X syndrome causes, diagnosis, mechanisms, and therapeutics.The Journal of clinical investigation,122(12), 4314-4322.
Fielding-Gebhardt, H., Warren, S. F. (2019). Early Predictors of Later Expressive Language in Boys With Fragile X Syndrome.American journal on intellectual and developmental disabilities,124(1), 11-24.
Weber, J. D., Smith, E., Berry-Kravis, E., Cadavid, D., Hessl, D., Erickson, C. (2019). Voice of People with Fragile X Syndrome and Their Families Reports from a Survey on Treatment Priorities.Brain sciences,9(2), 18.
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