Rett Syndrome Michael Fanning Michael Haddad Sarah Bachi Tim Dolan

What is Rett Syndrome? Origins of Rett Syndrome Pervasive Developmental Disorder Andreas Rett, 1954 Different from Autism Diagram of Family: mother with Rett and father without, and outcomes of their children

Who Gets Rett? Causes Genetics & Mutations Regression Prevalence 1 out of every 10,000 Females All Ethnic Groups Males and Rett Mutation gene

Diagnosis When & How Early Childhood Physical & Neurological Evaluations Criteria Essential Supportive Exclusion Image of stethoscope and Electrocardiogram chart to represent diagnosis

Stages of Rett Stage I: Early Onset 6-18 months old Stage II: Rapid Destructive 1-4 years old Stage III: Plateau/Pseudo-Stationary 2-10 years old Stage IV: Late Motor Deterioration Age 10 onward

Accommodations Suited to Individual Need Augmentative and Alternative Communication (ACC) Wheelchairs, Walkers and Other Mobility Assistance School Options o Day Habilitation o Total Inclusion Girl with Rett Syndrome in her walker reading a book and with the help of a switch.

Communication Loss of, or Limited Speech Eye gaze and Head pointing Touching VOCA’s and Communication Boards Music as Communication Sample of communication board

Treatment Currently No Cure Life Expectancy of 47 years Focuses on Symptom Management Medication Occupational Therapy Special Aids Image of Doctor looking at a brain scan

Research Close to a Cure? MECP2 triggers overproduction by mitochondria Rett has been reversed in mice Far Reaching Possibilities MECP2 controls other disorders too Autism Schizophrenia A cure for one could cure all three

True or False? 1. Rett Syndrome is a very common disorder. 2. Males can get Rett Syndrome too. 3. Most children with Rett can be identified by an abnormality in the MECP2 Protein. 4. Rett Syndrome has 7 stages of development. 5. AAC devices are sometimes used by students with Rett. 6. Students with Rett can lose their ability to speak. 7. There is already a cure for Rett 8. Rett syndrome is genetically similar to Autism and Schizophrenia 9. Rett Syndrome is caused by genetic mutation.

References Bos, Vaughn, Schumm. Teaching Students Who Are Exceptional, Diverse, and at Risk in the General Education Classroom. Pearson Education Inc. Boston, MA International Rett Syndrome Foundation. 7 Dec Judd, Sandra. Autism and Pervasive Development Disorders Sourcebook. Detroit: Omnigraphics, Lindberg, Barbro. Understanding Rett Syndrome: A Practrical Guide for Parents, Teachers, and Therapists. Toronto: Hogrefe & Huber Publishers, Rett Syndrome Research Foundation. "Research Links Rett Syndrome To Mitochondrial Gene." ScienceDaily 23 June December Rett Syndrome Society of Alberta. 7 Dec. 2008