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Rett Syndrome: Biology, Development, and Prognosis

Course #: 03-698

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Price: $36.00

CE Credit Hours: 4.00 Continuing Education Credit Hours

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  • 2 Read the Course Material -  As you read through, mark your answers on the course worksheet to be prepared for the exam
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Course Description

CEU Course Description 

 

Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. The first goal of this CEU course is to explore the biological pathways of RTT and the journey from the MECP2 gene through the transcription process, known changes in metabolite levels, and the different phenotype expressions. We will also explore a natural history study to examine the differences in early developmental skills in classic RTT vs. atypical RTT and the clinical severity. This section will look further into gross and fine motor skills as well as repetitive and expressive communication. Finally, the course will delve into a twenty-year surveillance of RTT including survival and how both physical and function characteristics persist into adulthood. Here we look at a retrospective study of birth and death information for 396 females with RTT and investigate instance of epilepsy, musculoskeletal abnormalities, gastrointestinal dysfunction, and adult behavior. The reading materials for this course include articles from the Orphanet Journal of Rare Diseases and the Journal of Neurodevelopmental Disorders,


CEU Course Objectives

  1. Enumerate the most abundant causes of death of RTT females.
  2. Explain the main function of MECP2.
  3. Investigate in which tissue the MECP2 protein is most abundant.
  4. Describe how a MECP2 mutation causes the major phenotype of RTT.

 

CEU Course Syllabus

  Genetics Background and the MECP2 gene     0.8 Contact Hours 
  Affected Genetic Pathways   0.8 Contact Hours
  Developmental Delay   1.2 Contact Hours  
  Long Tern Surveillance   1.2 Contact Hours

Total = 4 Contact Hours

Instructional level:  Intermediate

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