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 Rett8. Rett syndrome is genetically similar to Autism and

Schizophrenia9. 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 2007.

International Rett Syndrome Foundation. 7 Dec. 2008 <http://www.rettsyndrome.org/index.php?option=com_frontpage&Itemid=1>

Judd, Sandra. Autism and Pervasive Development Disorders Sourcebook. Detroit: Omnigraphics, 2007.

Lindberg, Barbro. Understanding Rett Syndrome: A Practrical Guide for Parents, Teachers, and Therapists. Toronto: Hogrefe & Huber Publishers, 1997.

Rett Syndrome Research Foundation. "Research Links Rett Syndrome To Mitochondrial Gene." ScienceDaily 23 June 2006. 7 December 2008 <http://www.sciencedaily.com /releases/2006/06/060623214716.htm>.

Rett Syndrome Society of Alberta. 7 Dec. 2008 <http://www.rettsyndromealberta.org/home>