Rett Syndrome is a developmental disorder experienced almost always in girls, and is first recognized during infancy. Before the discovery of this disorder, incidents of Rett Syndrome were mistaken for many other neurologic disorders such as Autism, Cerebral Palsy, or Nonspecific Developmental Delay, especially in females. An Austrian physician, Dr. Andreas Rett, first described this disorder in a journal article, in 1966. After watching two of his patients mingling their hands, he studied their clinical and developmental histories. The particular mutation on the gene associated with Rett’s syndrome (methyl-CpG binding protein-2 [MECP2]) was identified later in 1999.
Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births. Between 90-95% of patients with Rett’s syndrome disorder results from a change in a single gene known as Methyl-CpG-binding Protein 2 (MECP2), specifically on the X chromosome. MECP2 makes binding
protein, which is crucial for the development of the nervous system, particularly the brain. The alteration in the gene causes it to either make an insufficient amount of the protein, or make damaged protein that the body cannot use. As a result, there may not be enough usable amount of protein for the brain to develop normally. Rett syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. Rett syndrome involves a wide range of disabilities varying from mild to severe. The progress and severity of Rett syndrome is determined by the location, type and severity of the mutation and X-inactivation. Consequently, two girls of...
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