Rett Syndrome: Difference between revisions
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== Medical Management <br> == | == Medical Management <br> == | ||
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 <ref name="Kaufmann">Kaufmann, W. E., Stallworth, J. L., Everman, D. B., &amp;amp;amp;amp;amp;amp; Skinner, S. A. (2016). Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opinion on Orphan Drugs, 4(10), 1043–1055.</ref> 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<ref>Szczesna, K., de la Caridad, O., Petazzi, P., Soler, M., Roa, L., Saez, M. A., … Esteller, M. (2014). Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor. Neuropsychopharmacology, 39(12), 2846–2856. http://doi.org/10.1038/npp.2014.136</ref>. | 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 <ref name="Kaufmann">Kaufmann, W. E., Stallworth, J. L., Everman, D. B., &amp;amp;amp;amp;amp;amp;amp; Skinner, S. A. (2016). Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opinion on Orphan Drugs, 4(10), 1043–1055.</ref> 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<ref>Szczesna, K., de la Caridad, O., Petazzi, P., Soler, M., Roa, L., Saez, M. A., … Esteller, M. (2014). Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor. Neuropsychopharmacology, 39(12), 2846–2856. http://doi.org/10.1038/npp.2014.136</ref>. | ||
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<ref name="Downs 2009">Downs J, Young D, de Klerk N, Bebbington A, Baikie G, &amp; Leonard H. Impact of scoliosis surgery on activities of daily living in females with Rett syndrome. J Pediatr Orthop. 2009 Jun. 29(4):369-74.</ref>. 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<ref name="Jefferson 2016">Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., … Downs, J. (2016). Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. PLoS ONE, 11(2), e0146824. http://doi.org/10.1371/journal.pone.0146824</ref>. | 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<ref name="Downs 2009">Downs J, Young D, de Klerk N, Bebbington A, Baikie G, &amp;amp; Leonard H. Impact of scoliosis surgery on activities of daily living in females with Rett syndrome. J Pediatr Orthop. 2009 Jun. 29(4):369-74.</ref>. 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<ref name="Jefferson 2016">Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., … Downs, J. (2016). Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. PLoS ONE, 11(2), e0146824. http://doi.org/10.1371/journal.pone.0146824</ref>. | ||
Other health care professionals also play a crucial role in the treatment of persons with RS. Some may include:<br>- Speech-language pathologists – treatments targeted towards developing communication skills including non-verbal forms of communication (eye gaze, symbol boards), speech and language development | Other health care professionals also play a crucial role in the treatment of persons with RS. Some may include:<br>- Speech-language pathologists – treatments targeted towards developing communication skills including non-verbal forms of communication (eye gaze, symbol boards), speech and language development<ref name="Bartolotta 2011">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</ref><br>- Occupational therapists – therapy focused on achieving independence with activities of daily living and control over movements (Hank, Opitz, & Reynolds, 1986)<br><br> | ||
== Physical Therapy Management <br> == | == Physical Therapy Management <br> == | ||
Revision as of 02:36, 8 May 2017
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, Sofie Bourdinon, Shaimaa Eldib, Amrita Patro, Meaghan Rieke, Sai Kripa, Shreya Pavaskar and Aminat Abolade
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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 |
| • 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 |
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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[2].
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[3]. 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[4].
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[5]
- Occupational therapists – therapy focused on achieving independence with activities of daily living and control over movements (Hank, Opitz, & Reynolds, 1986)
Physical Therapy Management
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References[edit | edit source]
- ↑ Kaufmann, W. E., Stallworth, J. L., Everman, D. B., &amp;amp;amp;amp;amp;amp; Skinner, S. A. (2016). Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opinion on Orphan Drugs, 4(10), 1043–1055.
- ↑ Szczesna, K., de la Caridad, O., Petazzi, P., Soler, M., Roa, L., Saez, M. A., … Esteller, M. (2014). Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor. Neuropsychopharmacology, 39(12), 2846–2856. http://doi.org/10.1038/npp.2014.136
- ↑ Downs J, Young D, de Klerk N, Bebbington A, Baikie G, &amp; Leonard H. Impact of scoliosis surgery on activities of daily living in females with Rett syndrome. J Pediatr Orthop. 2009 Jun. 29(4):369-74.
- ↑ Jefferson, A., Leonard, H., Siafarikas, A., Woodhead, H., Fyfe, S., Ward, L. M., … Downs, J. (2016). Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. PLoS ONE, 11(2), e0146824. http://doi.org/10.1371/journal.pone.0146824
- ↑ 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
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