Fragile X Syndrome Health, Medicine, Nursing Research Paper

On Focus: Fragile X Syndrome 
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Fragile X Syndrome
Fragile X syndrome is a genetic disorder which results in a range of developmental issues such as cognitive impairments and intellectual disorder on the victim (Genetics Home Reference, n.d.). The victims normally suffer from slackened development regarding language and speech by the age of 2 years. Although this syndrome cuts across all genders, its impact on males is usually more severe than that in females. Physical characteristics of individuals suffering from this disorder include; an elongated and narrow face, flat feet, prominent forehead, flexible fingers, large ears, and testicles. Children who are affected by fragile x syndrome may exhibit hyper-activeness and have anxiety, both which are reflected in behaviors such as fidgeting.
Moreover, they may have an inadequate ability to focus attentively and retain their attention levels. Characteristics of autism spectrum disorders are also evident in a third of the victims and hence, affecting their social interaction and level of communication. Also, seizures may occur in the victims but more especially in males. As children with this syndrome age, all the present features become more apparent.
Given that it is a genetic disorder, fragile x syndrome is caused by gene mutation. The fragile x mental retardation (FMR1) gene, which is on the X chromosome undergoes mutation, whereby the number of CGG trinucleotide replicate within an untranslated region. Usually, it is the FMR1 gene that gives instructions for producing a protein referred to as FMRP. The purpose of this protein is to synchronize the production of other proteins and allow for the progression of synapses. Since synapses are essential in conveying nerve impulses, a shortage in the FMRP would interfere with the functioning of the nervous system. As such, a replication occurrence in the DNA segment (CGG triplet) causes an expansion in the FMR1 gene, and this could repeatedly occur for about over 200 times (Bassel and Warren, 2008). This number of repetition is abnormally high since the DNA segment usually occurs for a repeat period of between 5 to 40 times.
As a result of the abnormally expanded CGG segment (in fragile x syndrome victims) the FMR1 gene is silenced and thus, prevented from producing FMRP. As a reaction to the FMRP deficiency created, the functioning of the nervous system is disrupted. Consequently, this causes symptoms of fragile x syndrome on the victim. Depending on the number of repeats the CGG segment undergoes, the condition could either be termed as gene mutation or permutation. In the event of gene permutation, (involved 50-200 repeats) an individual stands a chance of being intellectually normal. Conversely, there are other individuals with a permutation, but who are unlucky to have a lower than normal FMRP. Such persons suffer from mild versions of fragile x syndrome (FXS) as reflected in their physical characteristics and some emotional problems such as depression.
Although there is no cure for this medical condition, treatment can be administered to manage it. Some of the management options for the underlying defects include; behavioral therapy, speech therapy and or special education (Cohen, 2017). Schools are required to offer special education services which are designed to fit the specific strengths and weaknesses of each child. Treatment of physical abnormalities may also be included where necessary. Patie...