Rett Syndrome: Difference between revisions
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<p><b>Original Editors </b> - Sofie Bourdinon | |||
</p><p><b>Top Contributors</b> - <span class="fck_mw_template">{{Special:Contributors/{{FULLPAGENAME}}}}</span> | |||
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<h2> Search Strategy </h2> | |||
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<h2> Definition/Description </h2> | |||
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add text here <br> | <h2> Clinically Relevant Anatomy </h2> | ||
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<h2> Epidemiology /Etiology </h2> | |||
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<h2> Characteristics/Clinical Presentation </h2> | |||
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<h2> Diagnostic Procedures </h2> | <h2> Diagnostic Procedures </h2> | ||
<p><span style="font-size: 13.28px;"> Table 1: Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)</span> | <p><span style="font-size: 13.28px;"> Table 1: Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)</span> | ||
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</td><td> • A period of regression followed by recovery or stabilization <br />• 2/4 of main criteria <br />• 5/11 supportive criteria<br /> | </td><td> • A period of regression followed by recovery or stabilization <br />• 2/4 of main criteria <br />• 5/11 supportive criteria<br /> | ||
</td></tr></table> | </td></tr></table> | ||
<h2> Diagnostic Procedures </h2> | |||
<p>add text here related to medical diagnostic procedures | |||
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add text here related to medical diagnostic procedures | <h2> Outcome Measures </h2> | ||
<p>add links to outcome measures here (also see <a href="Outcome Measures">Outcome Measures Database</a>) | |||
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<h2> Examination </h2> | |||
add links to outcome measures here (also see | <p>add text here related to physical examination and assessment<br /> | ||
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<h2> Medical Management <br /> </h2> | |||
<p>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 <span class="fck_mw_ref" _fck_mw_customtag="true" _fck_mw_tagname="ref" name="Kaufmann">Kaufmann, W. E., Stallworth, J. L., Everman, D. B., &amp;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.</span> 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<span class="fck_mw_ref" _fck_mw_customtag="true" _fck_mw_tagname="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</span>. | |||
add text here related to physical examination and assessment<br> | </p><p>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<span class="fck_mw_ref" _fck_mw_customtag="true" _fck_mw_tagname="ref" name="Downs 2009">Downs J, Young D, de Klerk N, Bebbington A, Baikie G, &amp;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.</span>. 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<span class="fck_mw_ref" _fck_mw_customtag="true" _fck_mw_tagname="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</span>. | ||
</p><p>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<span class="fck_mw_ref" _fck_mw_customtag="true" _fck_mw_tagname="ref" name="Bartolotta 2011">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</span><br />- Occupational therapists – therapy focused on achieving independence with activities of daily living and control over movements (Hank, Opitz, & Reynolds, 1986)<br /><br /> | |||
</p> | |||
<h2> Physical Therapy Management <br /> </h2> | |||
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.</ | <p>add text here <br /> | ||
</p> | |||
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.</ | <h2> Key Research </h2> | ||
<p>add links and reviews of high quality evidence here (case studies should be added on new pages using the <a href="Template:Case Study">case study template</a>)<br /> | |||
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</ | </p> | ||
<h2> Resources <br /> </h2> | |||
<p>add appropriate resources here <br /> | |||
</p> | |||
add text here <br> | <h2> Clinical Bottom Line </h2> | ||
<p>add text here <br /> | |||
</p> | |||
<h2> Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>) </h2> | |||
add links and reviews of high quality evidence here (case studies should be added on new pages using the | <p>see tutorial on <a href="Adding PubMed Feed">Adding PubMed Feed</a> | ||
</p> | |||
add appropriate resources here <br> | |||
add text here <br> | |||
see tutorial on | |||
<div class="researchbox"> | <div class="researchbox"> | ||
<rss>Feed goes here!!|charset=UTF-8|short|max=10</ | <p><span class="fck_mw_special" _fck_mw_customtag="true" _fck_mw_tagname="rss">Feed goes here!!|charset=UTF-8|short|max=10</span> | ||
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</div> | </div> | ||
<h2> References </h2> | |||
<p><span class="fck_mw_references" _fck_mw_customtag="true" _fck_mw_tagname="references" /> | |||
see | see <a href="Adding References">adding references tutorial</a>. | ||
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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, 127.0.0.1, Vidya Acharya, Sai Kripa, Shreya Pavaskar, Aminat Abolade, Sofie Bourdinon, Shaimaa Eldib, Amrita Patro and Meaghan Rieke
Search Strategy
Definition/Description
add text here
Clinically Relevant Anatomy
add text here
Epidemiology /Etiology
add text here
Characteristics/Clinical Presentation
add text here
Diagnostic Procedures
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 |
Diagnostic Procedures
add text here related to medical diagnostic procedures
Outcome Measures
add links to outcome measures here (also see <a href="Outcome Measures">Outcome Measures Database</a>)
Examination
add text here related to physical examination and assessment
Medical Management
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 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. 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 RSSzczesna, 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.
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 degreesDowns 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.. 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 activityJefferson, 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.
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 developmentBartolotta, 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
- Occupational therapists – therapy focused on achieving independence with activities of daily living and control over movements (Hank, Opitz, & Reynolds, 1986)
Physical Therapy Management
add text here
Key Research
add links and reviews of high quality evidence here (case studies should be added on new pages using the <a href="Template:Case Study">case study template</a>)
Resources
add appropriate resources here
Clinical Bottom Line
add text here
Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)
see tutorial on <a href="Adding PubMed Feed">Adding PubMed Feed</a>
Feed goes here!!|charset=UTF-8|short|max=10
References
see <a href="Adding References">adding references tutorial</a>.
