Rett Syndrome
Original Editors - Sofie Bourdinon
Top Contributors - Shannen Murray, Teresa Luu, Jaymie Elder, Kim Jackson, Barry Alleyne, Admin, Laura Marie, 127.0.0.1, Vidya Acharya, Meaghan Rieke, Sai Kripa, Shreya Pavaskar, Aminat Abolade, Sofie Bourdinon, Shaimaa Eldib and Amrita Patro
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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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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
- ↑ Bartolotta, T., Zipp, G., Simpkins, S., & 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