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Rett Syndrome

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Margaret Hagopian

on 24 March 2015

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Transcript of Rett Syndrome

Pediatrician Dr. Andreas Rett of Vienna, Austria
Noticed girls doing same repetitive hand movements
looked into clinical and developmental histories, which led to discovery
Published his findings in English in 1977
Rett Syndrome or RTT
Rett Syndrome
Margaret Hagopian

Sex-linked disorder
dominant X-linked pattern of inheritance
Chromosomal mutation
Mode of Inheritance
The MECP2 gene of the X chromosome gets copied twice
Chromosomal Address
Rett Syndrome Pedigree
Impaired control of voluntary movements
Distinctive uncontrolled hand movements
Slowing of head growth
Autistic-like behaviors
Breathing irregularities
Feeding and swallowing difficulties
Seizures
Symptoms
Almost exclusively affects girls 7-18 months after birth
If any male get mutation, most likely will die after birth
Groups Affected
No cure
Treatment directed at managing symptoms
Medication available to regulate breathing, helps with seizures
Physical therapy and Hydrotherapy-help increase mobility and balance
Speech therapy-many affected are nonverbal
Treatments
International Rett Syndrome Foundation
world's leading organization dedicated to raising awareness and raising money for research in hopes of finding a cure
Organizations
Current Research
Dr. David Katz, PH.D., Professor of Neurosciences and Psychiatry at Case Western Reserve University of Medicine
leading researcher for cure
part of Rett Syndrome Research Trust
clinical trials of low doses ketamine
What is Ketamine?
a medication used for anesthesia
can "reverse deficits in brain activity and improve neurological function"
Is this the beginning of a possible cure?
Deficits in Connectivity in the Brain
Works Cited
"Rett Syndrome." Genetics Home Reference. U.S. National Library of Medicine, 18 Dec. 2013. Web. 1 Jan. 2015. <http://ghr.nlm.nih.gov/condition/rett-syndrome>.

"Rett Syndrome." Autism Spectrum Disorders Health Center. WebMD, 13 Aug. 2012. Web. 1 Jan. 2015. <http://www.webmd.com/brain/autism/rett-syndrome>.

"About the Foundation." Rettsyndrome.org. International Rett Syndrome Foundation. Web. 1 Jan. 2015. <https://www.rettsyndrome.org/our-role-and-impact/our-mission>.

"Our Projects." Rett Syndrome Research Trust. Rett Syndrome Research Trust. Web. 1 Jan. 2015. <http://www.rsrt.org/research/our-projects/>.

https://sfari.org/images/in-brief/121017-mecp2-ib

http://www.mrsra.org/IRSF-RtoR-combined-logo.jpg

http://9f1780.medialib.glogster.com/media/8d2603f7f6cfd5822455acbfd8d9385f77faa0695425a3eaa347c246b471215e/karyotype.jpg

https://2011gtms8f.wikispaces.com/file/view/pedigree_chart.PNG/232443114/504x362/pedigree_chart.PNG
Full transcript