Rett Syndrome
Original Editors - Sofie Bourdinon
Top Contributors - Shannen Murray, Teresa Luu, Jaymie Elder, Kim Jackson, Barry Alleyne, Admin, Laura Marie, Vidya Acharya, 127.0.0.1, Shaimaa Eldib, Amrita Patro, Meaghan Rieke, Sai Kripa, Shreya Pavaskar, Aminat Abolade and Sofie Bourdinon
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Definition/Description[edit | edit source]
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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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Medical Management
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The medical care and management for Rett Syndrome (RS) is symptomatic and varies among each person with RS. For example, persons with RS may take antiepileptic drugs for seizures and antidepressant drugs for anxiety[1]. Currently, there is no effective treatment available; however, there are several potential avenues under investigation. Research on MeCP2 deficient mice suggests that the effects of dopamine agonists (levodopa) may be a potential treatment on motor dysfunction in RS (Szczesna et al., 2014).
In addition to pharmacologic treatments, orthopaedic approaches may be required for the management contractures or scoliosis in efforts to optimize gait or skeletal alignment. Specifically, surgery should be considered when lateral curvatures exceed 45 degrees (Downs et al., 2009). Similarly, feeding disorders among persons with RS may have a gastrotomy tube inserted to prevent aspiration during feeding (Downs et al., 2016). Furthermore, maintaining good bone health is also an area of management for persons with RS. Both pharmacological and non-pharmacological methods to improving bone density and reducing fractures are shown to be effective. In particular, RS guidelines emphasize vitamin D supplementation and increasing levels of physical activity (Jefferson et al., 2016).
Other health care professionals also play a crucial role in the treatment of persons with RS. Some may include:
- Speech-language pathologists – treatments targeted towards developing communication skills including non-verbal forms of communication (eye gaze, symbol boards), speech and language development (Bartolotta, et al., 2011)
- Occupational therapists – therapy focused on achieving independence with activities of daily living and control over movements (Hank, Opitz, & Reynolds, 1986)
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References[edit | edit source]
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- ↑ Kaufmann, W. E., Stallworth, J. L., Everman, D. B., & Skinner, S. A. (2016). Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opinion on Orphan Drugs, 4(10), 1043–1055. http://doi.org/10.1080/21678707.2016.1229181
