Transcript Rett Syndrome (Ch 6) - Framingham High School

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