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Hi, I am looking for someone to write an article on scientific breakthrough for rett syndrome Paper must be at least 1500 words. Please, no plagiarized work!
Hi, I am looking for someone to write an article on scientific breakthrough for rett syndrome Paper must be at least 1500 words. Please, no plagiarized work! Rett syndrome is one of the developmental diseases that specifically affects girls. It falls under the autism spectrum disorders (Guy et al, 2007). It affects 1 on 10,000 girls born. It is the most common cause of autism in girls (Whitehead, 2009). The disease is characterized by several neurological problems including motor defects, mental retardation, and physiological defects. Deterioration in language skills, decrease in the head size, irregularities in the rhythm of the heart and autistic symptoms by four years of age are seen (Whitehead, 2009). Since the neurons remain intact, it is not a neurodegenerative disorder (Guy et al, 2007). There is no cure for this devastating neurological disease, although immense research in this field is going on, because of which there is hope for future therapies. The disease is a sex-linked genetic disorder with dominant expression and hence seen only in girls. In more than 90 percent cases, mutation of MeCP2 gene, which encodes methyl CpG binding domain protein is seen. MeCP2 gene is seen in males too. However, males with mutated MeCP2 genes do not survive.
There are several types of Rett syndrome. Characteristically, the affected child has normal prenatal and postnatal development until 18 months of age, following which, regression in neurological development is noted. This is known as the regressive phase and is marked by manual dexterity, loss of social skills and loss of cranial growth. As the age increases the child develops seizures and hyperventilation. Clinical diagnosis of the disease is established by MeCP2 genetic analysis (Nitnak, 2010)
Although recognition of this disorder did not come until 1983, in actuality it was first identified by an Austrian physician named Dr. Andreas Rett back in 1954.
