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Rett's Syndrome

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by

Kelsey March

on 18 May 2015

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Transcript of Rett's Syndrome

Additional Resources
The
Eunice Kennedy Shriver
National Institute of Child Health and Human Development - https://www.nichd.nih.gov/health/topics/rett/conditioninfo/Pages/treatments.aspx
Official websites for Rett's - http://www.rsrt.org/rett-and-mecp2-disorders/rett-syndrome/
http://www.rettsyndrome.org/about-rett-syndrome
Boston Children's Hospital's website - http://www.childrenshospital.org/conditions-and-treatments/conditions/rett-syndrome

Discovery of Rett's syndrome
Rett syndrome is a disorder that was discovered by Dr. Andreas Rett, an Austrian pediatrician. Dr. Rett first noticed in children displaying the symptoms in 1954. Dr. Bengt Hagberg, a physician in Sweden, observed the same symptoms in his young patients six years later in 1960. Dr. Andreas Rett and Dr. Bengt Hagberg led to the discovery and to our understanding of Rett's syndrome and Walter Kaufmann, MD, is the director of Boston's Children's Hospital's Rett's Syndrome Program. He specializes in understanding why children with Rett's syndrome develop cognitive and behavioral problems and is doing extensive research and working with drug trials.
What is the prevalence of Rett's syndrome?
Rett's syndrome is estimated to be in 1 in 10,000 females in the U.S. Approximately 16,000 children and women are affected. It is classified as a ''rare disease'' by the Office of Rare Diseases of the National Institutes of Health. This designation qualifies the condition for orphan drug status with favorable tax deductions and marketing exclusivity on a drug for an extended period of time.
Symptoms
Slow brain growth-smaller than normal head size, generally becomes apparent after 6 months of age. As children get older delayed growth in other parts of the body becomes evident.
Loss of normal movement/coordination-the most significant loss of movement is motor skills. This happens between 12 and 18 months.
Abnormal hand movements- as the disease progresses, children with Rett's syndrome typically develop their own particular hand patterns this includes hand wringing, squeezing, clapping, tapping, or rubbing.
Unusual eye movements-intense staring, blinking, or closing one eye at a time.
Breathing problems- the holding of breath, abnormally rapid breathing, and forceful exhalation of air or saliva. Only occurs during waking hours.
Abnormal behavior-sudden odd facial expressions, long bouts of laughter, screaming, hand licking, and grasping of hair/clothing.
Seizures
Abnormal curvature of the spine (scoliosis)
Irregular heartbeat (dysrhythmia)
Treatments Available
Most people with Rett syndrome benefit from well-designed interventions no matter what their age, but the earlier that treatments begins, the better. With therapy and assistance, people with Rett's syndrome can participate in normal life. These treatments and options for medication generally aim to slow the loss of abilities, improve or preserve movement, and encourage communication and social interaction. Some treatments include physical therapy/hydrotherapy, occupational therapy, speech-language therapy, feeding assistance, physical assistance, and medication. These treatments are used to alleviate the symptoms caused by the disorder.
Rett's Syndrome
By: Hailey, Kelsey, and Sarah

When a child is suspected of having Rett's, a blood test is done looking for the mutation on the X chromosome of the gene called MECP2. This can confirm Rett's in up to 80% of cases.
Although Rett's syndrome is a genetic disorder, less than 1% of reported cases are inherited or passed from one generation to the next. Rett's syndrome is a X-linked dominant neurological disorder that is recognized in the early stages of childhood, and due to being a mutation on the X chromosome it is almost always seen in girls, but can be rarely seen in boys.


How Is The Disorder Diagnosed?
Full transcript