Rett Syndrome: Difference between revisions

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== Diagnostic Criteria   ==
== Diagnostic Criteria   ==


<span style="font-size: 13.28px;">&nbsp; Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)</span>  
<span style="font-size: 13.28px;">&nbsp; Table 1: Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)</span>  


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Revision as of 04:44, 7 May 2017

Search Strategy[edit | edit source]

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Definition/Description[edit | edit source]

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Epidemiology /Etiology[edit | edit source]

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Characteristics/Clinical Presentation[edit | edit source]

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Diagnostic Criteria [edit | edit source]

  Table 1: Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)

Main criteria Required for typical RTT Exclusion criteria for typical RTT Required for atypical RTT Supportive criteria for atypical RTT
• Partial or complete loss of acquired purposeful hand skills
• Partial or complete loss of acquired spoken language
• Gait abnormalities
• Stereotypic hand movements

• Period of regression followed by recovery or stabilization
• All main criteria and all exclusion criteria
• Supportive criteria often present

• Brain injury secondary to trauma
• Grossly abnormal psychomotor development in first 6 months of life (ex. acquiring head control)
• A period of regression followed by recovery or stabilization
• 2/4 of main criteria
• 5/11 supportive criteria
• Breathing disturbances when awake
• Teething grinding or jaw clenching
• Impaired sleep pattern
• Abnormal muscle tone
• Peripheral vasomotor disturbances
• Scoliosis
• Slowed growth
• Small, cold hands and feet
• Inappropriate laughing
• Diminished pain response
• Intense eye communication

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Examination[edit | edit source]

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Medical Management
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Testing [1]

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References[edit | edit source]

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Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi‐Buisson, N., . . . for the RettSearch Consortium (Members listed in the Appendix). (2010). Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology, 68(6), 944-950. doi:10.1002/ana.22124

  1. Bartolotta, T., Zipp, G., Simpkins, S., &amp; Glazewski, B. (2011). Communication skills in girls with rett syndrome. Focus on Autism and Other Developmental Disabilities, 26(1), 15-24. doi:10.1177/1088357610380042