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Rett Syndrome

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by

Collin G

on 27 September 2013

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Transcript of Rett Syndrome

Notes
Signs and tests
Different Types of Rett syndrome
Classified as atypical if:
Rett Syndrome
By: Collin Gramlich & Jorge Bajo

What is Rett Syndrome?
Rett Syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.
What Studies "Say"
Recent studies have showed that Rett syndrome almost ALWAYS occurs in girls.
Other Symptoms include:
Loss of social engagement
Ongoing, severe constipation and GERD(gastroesophageal reflux)
Poor circulation that can lead to cold and bluish arms and/or legs
Severe language development problems
Treatment/Medications
Treatment may include:
Help with feeding and diapering
Methods to treat constipation and GERD
Physical therapy to help prevent hand problems
Weight bearing exercises for those with scoliosis
Medications include:
Bromocriptine
Dextromethorphan
Folate and betaine
L-carnitine
L-dopa
Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment
Expectations (prognosis)
The disease slowly gets worse until teenage years, when symptoms MAY improve.

Life expectancies, though not well studied, are at least until the organisms age gets to around their mid-20s. The average life expectancy of a girl with Rett syndrome may be mid-40s. Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents.
Bibliography
PubMed Health http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002503/#adam_001536.disease
Google https://www.google.com/search?q=rett+syndrome&rlz=1C1ARAB_enUS482US500&oq=rett+sy&aqs=chrome.0.69i59j69i57j69i61j0l2j69i60.2576j0&sourceid=chrome&espvd=210&es_sm=122&ie=UTF-8
CureRett http://curerett.org.uk/
Symptoms cont.
Symptoms
Symptoms of Rett syndrome include:
Breathing problems-which get worse with stress
Change in development
Excessive saliva and drooling
Floppy arms and legs-frequently the first sign indicating that the organism has the disorder
Intellectual disabilities and learning difficulties
Scoliosis(an abnormal curving of the spine)
Seizures
Slowing head growth beginning at about 5-6 months of age
Loss of normal sleep patterns
Loss of purposeful hand movements
The likelihood of
having another child
with Rett syndrome
is
1%
THANKS FOR WATCHING!!
:D
Genetic testing may be done to look for the gene defect associated with the syndrome. However, since the defect is not identified in everyone with the disease, the diagnosis of Rett syndrome is based on symptoms.
Atypical
Classical(meets diagnostic criteria)
Provisional(some symptoms appear between ages 1 and 3)
It begins early(soon after birth) or late(beyond 18 months of age, sometimes as late as 3 or 4-years old)
Speech and hand skill problems are mild
It appears in a boy(very rare)
Full transcript