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Transcript of Rett Syndrome
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
dominant X-linked pattern of inheritance
Mode of Inheritance
The MECP2 gene of the X chromosome gets copied twice
Rett Syndrome Pedigree
Impaired control of voluntary movements
Distinctive uncontrolled hand movements
Slowing of head growth
Feeding and swallowing difficulties
Almost exclusively affects girls 7-18 months after birth
If any male get mutation, most likely will die after birth
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
International Rett Syndrome Foundation
world's leading organization dedicated to raising awareness and raising money for research in hopes of finding a cure
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
"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/>.