Fragile X Syndrome is considered to be a common cause of autism. It is a mutation in a gene and it is inherited from parents (, n.d.). According to (n.d.), “Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source CDC)” (para. 2). Even though this disorder can affect both males and females, it mainly affects males (, 2017).     Fragile X Syndrome is caused by the FMR1 (fragile X mental retardation 1) gene, located on the X chromosome (, n.d.). According to (2017), the FMRP (fragile X mental retardation protein) is necessary for standard brain development. However, people with Fragile X Syndrome cannot make that protein. This causes the mutation to occur, because they do not have the protein that is needed. Anyone who has the FRM1 gene mutation will pass this disorder down to their children (, n.d.). (n.d.) claims that females who carry Fragile X, have a 50% chance of passing the disorder to both male and female offspring. On the other hand, only daughters and not the sons can inherit the mutated gene from males. The children that received the mutation from a female, will either be a carrier, or they will express Fragile X Syndrome. The daughters who were given the premutation by their fathers will only be carriers, thus allowing them not to be affected by Fragile X Syndrome (, 2017). Even though carriers will not have the syndrome, they could possibly receive other related disorders to Fragile X (, n.d.). The Fragile X premutation can be passed down through generations in a syndicate before a child obtains the syndrome ( n.d.). Males are affected more than women because they have one Y chromosome and one X chromosome. So when males receive the full mutation, their only X chromosome holds the mutated gene. In women, they have two X chromosomes, allowing the cells in their body to only use one of the chromosomes and deactivating the other (, 2017).     Fragile X Syndrome (FXS) causes developmental complications, learning disablement, and cognitive impairment usually by age two (, n.d). Signs can be shown that a child has this disorder when they are not sitting, walking, or talking at a slower rate than other children their age. Other signs include trouble learning new skills, limited attention, reduced eye contact, hand flapping, anxiety, or hyperactivity (, 2017). These people have to go through some behavioral challenges. Men may have trouble paying attention, while women may be shy around new people and receive attention disorders (, n.d.). According to (2017), “About one-third of individuals with Fragile X Syndrome, have features of autism spectrum disorders that affect communication and social interaction” (para. 2). Males with FXS have intellectual disabilities that range from mild to severe, while females have only some intellectual disability (, n.d.). Most boys have difficulty with speech and language, such as stuttering or neglecting parts of words. Some people may even stay nonverbal their whole lives (, n.d.). Children who are affected by FXS will be bothered by bright lights, loud noises, and the feeling of clothing on their body causing them to act out (, n.d.). This disorder can also cause seizures in 15% of males and 5% of females (, 2017).  Even though they may have an intellectual disability, people with FXS are very friendly, caring, and humorous. They can even have a powerful visual memory and long term memory (, n.d.).     As children with Fragile X Syndrome get older, they begin to develop characteristic physical features. This occurs mostly in males, and about half of the females (, 2017). Some of these features may include big ears, lengthy face, soft skin, a projectecting jaw and forehead, flat feet, unusually flexible fingers, macroorchidism, and ear infections. No one will have all of these physical features of FXS (, n.d.). Some of the features, for example, having a long face and macroorchidism, will develop more after puberty (, n.d.). Women have a milder presentation of the physical features than men (, n.d.).        Fragile X Syndrome can be diagnosed through a blood sample from a person’s DNA. The testing is also done to see if there are any changes in the FMR1 gene, which could potentially cause fragile X-associated disorders (, 2017). There is no cure for FXS, but there are treatments that help reduce the symptoms of the condition (, n.d.). The sooner a child with FXS receives treatment, the more opportunity they have for learning because their brain is still forming (, n.d.). Some treatment services may include therapy or medicine, to help control behavior problems (, 2017). If a child qualifies for special services, then an Individualized Educational Plan (IEP) will be created for the child on their specific needs (, 2017). Therapy sessions are helpful in reducing the effects of the disorder. There are speech-language therapists, occupational therapists, physical therapists, behavioral therapists, and physical therapists (, n.d.). Speech-language therapists assist them in progressing pronunciation and using language more effectively. Occupational therapists help adjust tasks and conditions. Physical therapists design exercises to help with posture and exercise, and the behavioral therapists help come up with positive ways to respond to situations (, n.d.).     As people with FXS become adults, the severity of the disorder is exactly the same as it was when they were a child. Having Fragile X Syndrome will not shorten thier life (, 2017). Adults will have difficulty in maintaining a job, performing tasks, and overcoming symptoms such as mood changes (, 2017). Anyone with Fragile X Syndrome will always need love, support, and care no matter how old they are (, n.d.).


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