Rett Syndrome Fundraiser: Elk Grove, IL April 28, 2007

From the serious runner to the recreational runner, to family members and friends of all ages Run For Rett is an event you don’t want to miss. Make a difference in the life of those affected by Rett Syndrome; join us for the Run For Rett 5K Run/Walk & 1 Mile Fun Run. April 28, 2007 Elk Grove, [...]

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Rett Syndrome Fundraiser: Boston DKNY Shopping Event

On May 3, join Boston Herald fashion writer Jill Radsken at DKNY (37 Newbury St.) for an evening of cocktails, hors d’oeuvres and shopping. It’s all to benefit the Rett Syndrome Research Foundation and goes down from 6 to 9 p.m. Shoppers can score 15 percent off all purchases during the event, and DKNY will donate 15 percent of proceeds to the [...]

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An explanation for another familial case of Rett syndrome: maternal germline mosaicism

We describe one of the few familial cases of RTT in which a maternal germline mosaicism is the most likely explanation. The mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males. The mutation was absent in DNA extracted from blood of both [...]

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Researchers discover gene that causes Noonan Syndrome

Researchers report the discovery of the genetic malfunction that causes a form of mental retardation called Noonan Syndrome [...]

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U.S. Congressman pushes for national clearinghouse on autism

.S. Rep. Mike Doyle introduced a bill that would provide $350 million to improve services for people with [...]

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Equipment Alert: Rett Syndrome patient finds joy on therapeutic AmTryke

Without use of her hands and unable to talk, Madelyn Cummins, who has Rett Syndrome, can’t explore the world like other children.
But exploring got a little easier Monday for the 3-year-old when she was presented with a specially designed therapeutic tricycle called AmTryke during her regular session at Willis-Knighton Pediatric Physical Therapy in [...]

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Clinical Trial: Clinical and Immunological Investigations of Subtypes of Autism

Clinical Trial: The purpose of this study is to learn more about autism and its subtypes (including Rett Syndrome). Autism is a developmental disorder in which children have problems with communication and social skills and display restricted interests and repetitive [...]

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Clinical Trial: Rett Syndrome Natural History

Rett Syndrome Clinical Trial: Natural [...]

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Ten years of searching and learning

I first learned about Rett Syndrome around ten years ago. A devoted physical therapist mentioned her suspicion that our daughter had Rett Syndrome during a therapy session. The disorder seemed to perfectly describe my two year-old daughter’s apparently imperfect health condition. The best doctors at one of America’s finest University hospitals missed the diagnosis altogether [...]

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