Fragile X Syndrome Analysis

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Fragile X syndrome (FXS) is the most common heritable disease that results in abnormalities in brain development and function, resulting in intellectual disabilities (Brock & Hatton, 2010; Hinton et al. 2013; Tonnsen et al. 2013; Tranfaglia, 2011). It is caused by an excess repetition of 200 or more repeats (Tonnsen et al. 2013) of the CGG nucleotide on the fragile x mental retardation gene (FMR1), reducing and often preventing the production of the fragile x mental retardation protein (FMRP) (Brock & Hatton, 2010; Haessler et al. 2013; Tonnsen et al. 2013; Zingerevich et al. 2009). Although the etiology of FXS is well-known, very little is known about the cause of autism. It is hypothesized that autism is also a genetic disease, but research …show more content…
2013). As mentioned, the defect in the FMR1 gene leads to the absence in production of the FMRP; this absence results in abnormal development in the regions of the brain associated with autistic behavior (McCary & Roberts, 2013). FXS is known as a risk factor for autism, and children with both FXS and autism are at a higher risk for having poorer outcomes than children with FXS alone, exhibiting specific social impairments such as situations involving interactions with peers (Brock & Hatton, 2010). The purpose of this literature review is to investigate the outcomes of children who have FXS and autism and children who have FXS only. Identifying the outcomes between groups will allow parents, doctors, psychologists, and teachers to better serve children with these disabilities, ensuring they receive appropriate treatment. I hypothesize that children who have FXS and autism will present poorer outcomes developmentally, cognitively, socially, physically, and perceptually than children with FXS …show more content…
Zingerivich et al.’s (2009) is consistent with this claim, as the purpose of their study was to describe motor abilities in children with FXS only and FXS/autism while also comparing the groups. They hypothesized that children with FXS and autism will have poorer motor abilities than children with FXS alone (Zingerevich et al. 2009). Zingerevich et al. (2009) used males and females diagnosed with FXS and FXS/autism, diagnosed at time of trial, with the average age being 3.4 years old. They examined fine motor abilities, visual perception, expressive and receptive language, and communication and social abilities. Results found that 60% of the children with FXS met diagnostic criteria for autism and those who were diagnosed as FXS/autistic had lower fine motor scores than those with FXS only (Zinerevich et al.

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