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Rett Syndrome: Communication Assessment and Intervention; Part 2

Rett Syndrome: Communication Assessment and Intervention; Part 2
Theresa Bartolotta, Ph.D., CCC-SLP
January 25, 2013

 This text-based course is a written transcript of the seminar, “Rett Syndrome: Communication Assessment and Intervention; Part 2” presented by Theresa Bartolotta, Ph.D., CCC-SLP.

>> Theresa Bartolotta:  This is Part II of a two-part session that I am doing on communication assessment and intervention in Rett syndrome.  In Part I, I gave an overview of the disorder and touched lightly on assessment and intervention topics.  What I am going to do for you today is to really dig down into what we know about assessment and intervention.  As Amy mentioned I have what I think are some nice videos for you of three young women with Rett syndrome, and we can really demonstrate some communication strategies with that population today.

These are my goals for this session:  I am going to talk about what we have right now which is the best evidence for assessment in this population.  Even though it is limited, we will talk about what is the state of the knowledge.  We will talk about evidence for designing intervention programs for improving communication in this population.  I will cover some intervention strategies and we will talk about essentially no-tech through hi-tech options. Then I will get into a lot of detail about this communication coaching model that I have been researching with my colleague, Patricia Remshifski, and we are working with families and teachers who interact with individuals with Rett syndrome, both in the home and the school environments.  I have videos for both of those contexts for you today. 

To reorient you on who we are talking about I will go over the basics of Rett syndrome.  This will be a refresher for those of you who listened to the first seminar and then of course an orientation for those of you perhaps who have not. 

Rett Syndrome (RTT) - Basics

Rett syndrome occurs primarily in females.  It is a rare disorder.  The incidence is about 1 in 10,000 live female births.  It does occur in males.  However it is very rare in males.  We have much more awareness about Rett syndrome in the last decade or so because of the identification of the genetic mutation that causes most cases of Rett syndrome.  So over 97% of individuals with Rett syndrome have been found to have a mutation in the MECP2 gene which is on the X chromosome, and it is a gene that is critical in brain development and brain function over the life span. 

Rett syndrome is no longer considered to be a degenerative disorder.  It is something that is life-long.  It is usually diagnosed somewhere between the first and second year of life.  It is also no longer considered to be a staged disorder, though there are specific symptoms that appear at different ages.  It is regressive in that we see a period of regression usually before age 2.  It looks very similar to autism at that point.  It is a neurological disorder. 

Individuals with Rett syndrome were thought to have a very shortened lifespan, but we now know that individuals with Rett syndrome are living longer and have much better outcomes than in the past.  I have two videos of young women with Rett syndrome to show you who are in their 20s. 

Rett syndrome will no longer be classified as an autism spectrum disorder. In the revision of the DSM that is coming out in 2013, it is no longer considered to be a mental health disorder and because of the identification of the genetic mutation, it is no longer going to be thought of as part of that autism spectrum.

Rett syndrome is characterized by significant impairments of three areas:

theresa bartolotta

Theresa Bartolotta, Ph.D., CCC-SLP

Theresa E. Bartolotta earned her Master’s degree in Speech-Language Pathology from Queens College of the City University of New York and her Ph.D. from Seton Hall University. She is Associate Professor of Speech-Language Pathology and Director of Assessment in the Office of the Provost at Seton Hall. Her primary research interests are in communication impairment in autism spectrum disorders, including Rett syndrome. She has published articles and presented widely on Rett syndrome and communication intervention in this population.

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