Rett Syndrome is a postnatal neurological disorder that almost exclusively affects girls. It is a rare disease and can have many side effects in each stage of life. EEG has been shown to be critical in helping diagnose Rett Syndrome. Although it has no cure, with proper treatment of the symptoms the disease can be managed.
Rett Syndrome was first described in 1966 in a journal by Austrian physician, Dr. Andreas Rett. However, the disorder was not fully recognized until 1983 when it was described in a second article by a Swedish researcher named Dr. Bengt Hagberg. Rett Syndrome can be seen in all races and “is estimated to affect one in every 10,000 to 15,000 live female births” (NIH). Rett Syndrome is rarely seen in boys and has different …show more content…
A very small number of boys have a different MECP2 mutation and can have some developmental delay. Rett Syndrome has an unknown etiology, perhaps because of the lack of bulk investigations available. According to Pellock, there is a mutation on the X chromosome which affects the methyl-CpG-binding protein 2 (MECP2). There are also other mutations that can cause atypical or congenial Rett Syndrome such as mutations in the CDKL5 and FOXG1 genes. These cases may be caused by partial gene deletions, different mutations of MECP2 and unidentified genes. Abnormalities can be seen in the CSF biogenic amines which might suggest a neurotransmitter dysfunction. Rett Syndrome is rarely inherited from one generation to another, even though it is a genetic disorder. Less than 1% of girls have inherited Rett Syndrome and most cases are spontaneous.
Rett Syndrome affects many parts of brain, especially those in charge of sensory, motor, autonomic, emotional and cognitive functions. This means that speech, mood, movement, life sustaining functions, learning, and sensory perception can be affected. Rett Syndrome can have a large array of symptoms ranging from mild to severe, which is determined by the location and severity of the mutation. Symptoms of Rett Syndrome are noticed
Rett Syndrome was first described in 1966 in a journal by Austrian physician, Dr. Andreas Rett. However, the disorder was not fully recognized until 1983 when it was described in a second article by a Swedish researcher named Dr. Bengt Hagberg. Rett Syndrome can be seen in all races and “is estimated to affect one in every 10,000 to 15,000 live female births” (NIH). Rett Syndrome is rarely seen in boys and has different …show more content…
A very small number of boys have a different MECP2 mutation and can have some developmental delay. Rett Syndrome has an unknown etiology, perhaps because of the lack of bulk investigations available. According to Pellock, there is a mutation on the X chromosome which affects the methyl-CpG-binding protein 2 (MECP2). There are also other mutations that can cause atypical or congenial Rett Syndrome such as mutations in the CDKL5 and FOXG1 genes. These cases may be caused by partial gene deletions, different mutations of MECP2 and unidentified genes. Abnormalities can be seen in the CSF biogenic amines which might suggest a neurotransmitter dysfunction. Rett Syndrome is rarely inherited from one generation to another, even though it is a genetic disorder. Less than 1% of girls have inherited Rett Syndrome and most cases are spontaneous.
Rett Syndrome affects many parts of brain, especially those in charge of sensory, motor, autonomic, emotional and cognitive functions. This means that speech, mood, movement, life sustaining functions, learning, and sensory perception can be affected. Rett Syndrome can have a large array of symptoms ranging from mild to severe, which is determined by the location and severity of the mutation. Symptoms of Rett Syndrome are noticed