Rett Syndrome: Difference between revisions

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<p><b>Original Editors </b> - Sofie Bourdinon  
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<h2> Search Strategy  </h2>
== Search Strategy  ==
<p><br />  
 
</p>
<br>  
<h2> Definition/Description  </h2>
 
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== Definition/Description  ==
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<h2> Clinically Relevant Anatomy  </h2>
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== Clinically Relevant Anatomy  ==
<h2> Epidemiology /Etiology  </h2>
 
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<h2> Characteristics/Clinical Presentation  </h2>
== Epidemiology /Etiology  ==
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</p>
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<h2> Diagnostic Procedures  </h2>
 
<p><span style="font-size: 13.28px;">&nbsp; Table 1: Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)</span>  
== Characteristics/Clinical Presentation  ==
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== Diagnostic Procedures  ==
 
<span style="font-size: 13.28px;">&nbsp; Table 1: Diagnostic Criteria for Rett Syndrome. Adapted from Neul et al. (2010)</span>  
 
{| width="200" border="1" cellpadding="1" cellspacing="1"
|-
| Main criteria
| Required for typical RTT
| Exclusion criteria for typical RTT
| Required for atypical RTT
|-
| • Partial or complete loss of acquired purposeful hand skills<br>• Partial or complete loss of acquired spoken language<br>• Gait abnormalities<br>• Stereotypic hand movements<br><br>
| • Period of regression followed by recovery or stabilization <br>• All main criteria and all exclusion criteria<br>• Supportive criteria often present<br><br>
| • Brain injury secondary to trauma <br>• Grossly abnormal psychomotor development in first 6 months of life<br>
| • A period of regression followed by recovery or stabilization <br>• 2/4 of main criteria <br>• 5/11 supportive criteria<br>
|}
 
== Diagnostic Procedures  ==
 
add text here related to medical diagnostic procedures
 
== Outcome Measures  ==
 
add links to outcome measures here (also see &lt;a href="Outcome Measures"&gt;Outcome Measures Database&lt;/a&gt;)
 
== Examination  ==


<tr>
add text here related to physical examination and assessment<br>  
<td> Main criteria
 
</td><td> Required for typical RTT
== Medical Management <br>  ==
</td><td> Exclusion criteria for typical RTT
 
</td><td> Required for atypical RTT
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&nbsp;<ref>Kaufmann, W. E., Stallworth, J. L., Everman, D. B., &amp;amp;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.</ref>&nbsp;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>.  
</td></tr>
 
<tr>
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>Downs J, Young D, de Klerk N, Bebbington A, Baikie G, &amp;amp;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.</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>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>.  
<td> • Partial or complete loss of acquired purposeful hand skills<br />• Partial or complete loss of acquired spoken language<br />• Gait abnormalities<br />• Stereotypic hand movements<br /><br />
 
</td><td> • Period of regression followed by recovery or stabilization <br />• All main criteria and all exclusion criteria<br />• Supportive criteria often present<br /><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>Bartolotta, T., Zipp, G., Simpkins, S., &amp;amp;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</ref><br>- Occupational therapists – therapy focused on achieving independence with activities of daily living and control over movements (Hank, Opitz, &amp; Reynolds, 1986)<br><br>  
</td><td> • Brain injury secondary to trauma <br />• Grossly abnormal psychomotor development in first 6 months of life<br />
 
</td><td> • A period of regression followed by recovery or stabilization <br />• 2/4 of main criteria <br />• 5/11 supportive criteria<br />
== Physical Therapy Management <br>  ==
</td></tr></table>
 
<h2> Diagnostic Procedures  </h2>
add text here <br>  
<p>add text here related to medical diagnostic procedures
 
</p>
== Key Research  ==
<h2> Outcome Measures  </h2>
 
<p>add links to outcome measures here (also see <a href="Outcome Measures">Outcome Measures Database</a>)
add links and reviews of high quality evidence here (case studies should be added on new pages using the &lt;a href="Template:Case Study"&gt;case study template&lt;/a&gt;)<br>  
</p>
 
<h2> Examination  </h2>
== Resources <br>  ==
<p>add text here related to physical examination and assessment<br />  
 
</p>
add appropriate resources here <br>  
<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&nbsp;<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;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>&nbsp;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>.  
== Clinical Bottom Line  ==
</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;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;amp;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, &amp; Reynolds, 1986)<br /><br />  
add text here <br>  
</p>
 
<h2> Physical Therapy Management <br />  </h2>
== Recent Related Research (from &lt;a href="http://www.ncbi.nlm.nih.gov/pubmed/"&gt;Pubmed&lt;/a&gt;)  ==
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<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 />  
</p>
<h2> Resources <br />  </h2>
<p>add appropriate resources here <br />  
</p>
<h2> Clinical Bottom Line  </h2>
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</p>
<h2> Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)  </h2>
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<h2> References  </h2>
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Revision as of 02:53, 8 May 2017

Original Editors - Sofie Bourdinon

Top Contributors - <img class="FCK__MWTemplate" src="http://www.physio-pedia.com/extensions/FCKeditor/fckeditor/editor/images/spacer.gif" _fckfakelement="true" _fckrealelement="6" _fck_mw_template="true">  

Search Strategy[edit | edit source]


Definition/Description[edit | edit source]

add text here

Clinically Relevant Anatomy[edit | edit source]

add text here

Epidemiology /Etiology[edit | edit source]

add text here

Characteristics/Clinical Presentation[edit | edit source]

add text here

Diagnostic Procedures[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
• 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
 • A period of regression followed by recovery or stabilization
• 2/4 of main criteria
• 5/11 supportive criteria

Diagnostic Procedures[edit | edit source]

add text here related to medical diagnostic procedures

Outcome Measures[edit | edit source]

add links to outcome measures here (also see <a href="Outcome Measures">Outcome Measures Database</a>)

Examination[edit | edit source]

add text here related to physical examination and assessment

Medical Management
[edit | edit source]

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
[edit | edit source]

add text here

Key Research[edit | edit source]

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
[edit | edit source]

add appropriate resources here

Clinical Bottom Line[edit | edit source]

add text here

Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)[edit | edit source]

see tutorial on <a href="Adding PubMed Feed">Adding PubMed Feed</a>

Feed goes here!!|charset=UTF-8|short|max=10

References[edit | edit source]

<span class="fck_mw_references" _fck_mw_customtag="true" _fck_mw_tagname="references" /> see <a href="Adding References">adding references tutorial</a>.


  1. ↑ Kaufmann, W. E., Stallworth, J. L., Everman, D. B., &amp;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.
  2. ↑ 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
  3. ↑ Downs J, Young D, de Klerk N, Bebbington A, Baikie G, &amp;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.
  4. ↑ 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
  5. ↑ Bartolotta, T., Zipp, G., Simpkins, S., &amp;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
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