Rett+Syndrome+-+madison+s

   Rett Syndrome

**Description: ** Rett Syndrome affects the nervous system. It leads to speech problems or development reversals especially in the areas of language and hand use. Girls have 2X chromosomes so if one X is fine it will help the girl stay alive. Boys on the other hand have only 1X chromosome so they don’t have a back up, this leads to early death or miscarriage.

**Inheritance: ** All ethnic groups and racial groups have the same chance of Rett Syndrome. Less than 1% of recorded cases are passed from one generation to the next. A symptomatic female is a carrier.

**Symptoms: ** The following are symptoms that may show signs of Rett Syndrome. · Apraxia · Breathing problems · Change in development · Drooling · Floppy arms or legs · Learning disabilities · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Scoliosis · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Shaky or unsteady, toe walking · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Seizures · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Slowing head growth · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Loss of normal sleeping patterns · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Loss of hand movements · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Loss of social engagement · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">On going, severe constipation · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Poor circulation (cold or blue arms and legs.) · <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt;">Severe language development problems.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Daily Life: **

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**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 14.25pt; margin: 0in 0in 0pt;">Rett Syndrome is diagnosed by a professional doctor. A test can find MCER2 gene mutation. A mutation in the X Chromosome is how Rett Syndrome occurs.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">There is currently no cure for Rett Syndrome. Some symptoms can be helped, behavioral problems can be helped with therapies and various forms of rehabilitation therapy.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">There is currently research going on to help Rett Syndrome. Some treatment ways are being tested on mice. Scientists have currently many projects that they are experimenting with, but no actual experiment is certain to cure Rett Syndrome.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square: ** **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: 0px; overflow: hidden;">﻿ ** **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Pedigree Chart: **

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Rett Syndrome is the only known genetic autistic spectrum. Every five hours a girl with Rett syndrome is born. Rett syndrome is the leading genetic cause of severe impairment in females.

**<span style="color: black; font-family: 'Times New Roman','serif';">﻿ ****<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: ** <span style="color: blue; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 14.25pt; margin: 0in 0in 0pt;">Pub Med Health __<span style="color: blue; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%;">Childrenshospital.com __