A Study On Rett Syndrome ( Rtt )

1696 Words Nov 24th, 2015 7 Pages
Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene on the X chromosome and therefore, more commonly found in females (Renieri et al, 2003). A limited number of cases have been documented in males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is required for brain development (Gonzales & LaSalle, 2010). When the MeCP2 gene mutates, it leads to a decline in cognitive development (Renieri et al, 2003). Decline in physical development such as microcephaly, and respiratory abnormalities are also noticed (Renieri et al, 2003). An investigation into this literature helps researchers understand the behavioral and molecular aspects of RTT.
Immediately after birth, children affected by RTT appear to be healthy, and only begin to display stage one symptoms between the ages of 6-18 months (Forbes-Lorman et al, 2014). The destructive stage, or stage two, usually occurs between the ages of 1-4 years old, and includes symptoms such as loss of hearing, loss of speech and obsessive hand movements (Katz et al, 2012). Hand movements include hand wringing, obsessive hand washing, and clapping motions. Females usually spend most of their time in stage three, pseudo-stationary, of RTT, commonly characterized by seizures and…
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