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CE Credit Hours: 4.00 Continuing Education Credit Hours
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
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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