Rett Syndrome

Description: (TNR, 12, Bold)
Rett Syndrome is a neurodevelopmental disorder of the brain that affects females more commonly than males. This clinical disorder includes small hands and feet, and a deceleration of the rate of head growth. Repetitive hand movements; such as wringing and or repeatedly putting hands into the mouth are some complications. They typically have no verbal skills, and about 50% of individuals affected are not ambulatory. Scoliosis growth failure and constipation are very common and can be problematic. This disorder may be misdiagnosed as autism or cerebral palsy.

Inheritance:
Genetically Rett Syndrome is usually caused ( 95% or more ) by a De Novo mutation in the child. This disorder isn’t inherited from either parent. In some sporadic cases of Rett Syndrome, it’s thought that the mutated MECP2 is usually derived from the male copy of the X chromosome. It can also be inherited from phenotypically normal mothers who have a germ line mutation in the gene encoding. Less than 1% of all cases are inherited and most cases are spontaneous mutations. In 99% of cases, Rett Syndrome cases occur in people with no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene.



Symptoms:
Many symptoms for RTT are involuntary stereotypical hand movements and can make eating a very difficult self-care task for individuals with RTT. An infant with RTT usually has normal development for the first 6-18 months. Symptoms range from mild to severe. Many symptoms are Apraxia, breathing problems, change in development, floppy hands and feet, less sleep, and many seizures throughout the day.



Daily Life:





Diagnosis:
Rett Syndrome is diagnosed by a clinical observation, and in some very rare cases, no known mutated genes can be found. Genetic blood tests can reveal mutated genes if they exist for confirmation of the observed diagnoses. A child’s diagnosis with Rett Syndrome can feel overwhelming, although there’s no cure. Early identification and treatment may help girls and families who are affected by Rett Syndrome. To do another way of diagnosing RTT doctors perform genetic blood testing and if you suspect Rett Syndrome see your pediatrician. Rett Syndrome is generally diagnosed in early childhood or adulthood through observation and neurological testing.


Treatment:
This disorder is treated by going to special educational school and learning activities that can help them balance their daily life. In addition, some therapeutic activities are regarded as highly enjoyable for children with RTT and can be considered a form of play as well as therapy. The individual with RTT has methods to treat constipation and GERD, physical therapy to help prevent the hands from contracting, weight bearing exercise for those with scoliosis. For this person a feeding tube may be needed if the patient breathes in food. Diets high in calories and fat, as well as nasogastric tube feeds, can help increase weight and height. If this person has many seizures throughout the day medications such as carbamazepine can be taken to treat the seizures.



Research:
There is so much research going on for Rett Syndrome such as medicine because neurophine is a depression. This work adds to the fascinating data in recent years showing that neurodevelopment disorders such as Rett and Down syndrome may be treatable. The National Institute of Neurological Disorders and Stroke ( NINDS ) and other institutes of the National Institute of Health ( NIH ) have conducted a number of studies on Rett Syndrome, diet, drugs, diagnosis, methods and managing symptoms are just a few highlights involved in current trials and research. Researchers are also trying all kinds of medicine and methods to help children.



Additional Facts:
Rett Syndrome is a very rare, severe “GIRLS ONLY” form of autism. It’s usually discovered in the first two years of life and a child’s diagnosis with Rett Syndrome can feel overwhelming. Rett Syndrome is an autism spectrum disorder that affects girls almost exclusively. This disorder is rare because only “1 in 22,000” girls will have developed the condition. Although it’s not always detected, a slowing of head growth is one of the first events, and loss of muscle tone is also an initial symptom. Around 1-4 years of age, social and language skills deteriorate in girls, and the girl will slowly stop talking. RTT is also caused by problems with your muscles and coordination, and walking becomes awkward.




Punnett Square:





Pedigree Chart:


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Resources:


Pictures:DSC04340.JPGRSyndrome.wix_mp




http://dir.yahoo.com/Health/Diseases_and_Conditions/whitepages/wp_16.html
http://www.webmd.com/brain/autism/rett-syndrome
http://ghr.nlm.nih.gov/
http://health.nytimes.com/health/guides/disease/rett-syndrome/overview.html

For further information go to these websites.