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Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta‐analysis.

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Title: Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta‐analysis.
Authors: Galán‐Olleros, M., González‐Alguacil, E., Soto‐Insuga, V., Vara‐Arias, M. T., Ortiz‐Cabrera, N. V., Egea‐Gámez, R. M., García‐Peñas, J. J., Martínez‐Caballero, I.
Source: Journal of Intellectual Disability Research. Dec2024, Vol. 68 Issue 12, p1331-1343. 13p.
Subjects: Hip joint dislocation, Medical information storage & retrieval systems, Rett syndrome, Scoliosis, Foot abnormalities, Meta-analysis, Disease prevalence, Descriptive statistics, Age distribution, MEDLINE, Systematic reviews, Medical databases, Online information services, Confidence intervals, Knee injuries, Genetic testing
Abstract: Background: Rett syndrome (RTT), a developmental disorder primarily affecting girls and linked to methyl‐CpG binding protein‐2 (MECP2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. Our aim was to delineate the prevalence of orthopaedic conditions in individuals with RTT. Method: Three databases were searched and independently screened by two reviewers to retrieve observational studies published after 2000 that recruited 10 or more patients diagnosed with RTT and reported the prevalence of any orthopaedic conditions (scoliosis, hip displacement, knee problems or foot deformities). A random‐effects meta‐analysis was performed to determine the pooled prevalence based on study weight. Results: Of 867 screened studies, 21 studies involving 9997 girls with RTT (mean age 14.1 years; range, 3–38.5) met the inclusion criteria. The pooled prevalence of scoliosis was 64.5% [95% confidence interval (CI) 55.4–73.6%; I2 = 99%; P < 0.01], of hip displacement was 29.6% (95% CI 8.9–50.2%; I2 = 97%; P < 0.01) and of foot deformities was 53% (95% CI 17.5–89.2%; I2 = 98%; P < 0.01). Knee problems were reported in only one study. Scoliosis prevalence increased in studies with a high percentage of genetic testing and MECP2 positivity [69.1% (95% CI 58.9–79.2%; I2 = 99%; P < 0.01)], those with a mean age over 13 years [73% (95% CI 59.1–87%; I2 = 100%; P < 0.01)], and studies combining both variables [80.13% (95% CI 70.8–89.4%; I2 = 81%; P < 0.01)]. Conclusions: This meta‐analysis found that approximately two in three girls with RTT develop scoliosis, one in two exhibit foot deformities and one in three experience hip displacement. These findings enhance our understanding of the prevalence of orthopaedic conditions in RTT, which can guide the establishment of surveillance protocols, clinical guidelines and management strategies tailored to the needs of RTT patients. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta‐analysis.
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  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Gal&#225;n‐Olleros%2C+M%2E%22&quot;&gt;Gal&#225;n‐Olleros, M.&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Gonz&#225;lez‐Alguacil%2C+E%2E%22&quot;&gt;Gonz&#225;lez‐Alguacil, E.&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Soto‐Insuga%2C+V%2E%22&quot;&gt;Soto‐Insuga, V.&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Vara‐Arias%2C+M%2E+T%2E%22&quot;&gt;Vara‐Arias, M. T.&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ortiz‐Cabrera%2C+N%2E+V%2E%22&quot;&gt;Ortiz‐Cabrera, N. V.&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Egea‐G&#225;mez%2C+R%2E+M%2E%22&quot;&gt;Egea‐G&#225;mez, R. M.&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Garc&#237;a‐Pe&#241;as%2C+J%2E+J%2E%22&quot;&gt;Garc&#237;a‐Pe&#241;as, J. J.&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Mart&#237;nez‐Caballero%2C+I%2E%22&quot;&gt;Mart&#237;nez‐Caballero, I.&lt;/searchLink&gt;
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Hip+joint+dislocation%22&quot;&gt;Hip joint dislocation&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Medical+information+storage+%26+retrieval+systems%22&quot;&gt;Medical information storage &amp; retrieval systems&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Rett+syndrome%22&quot;&gt;Rett syndrome&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Scoliosis%22&quot;&gt;Scoliosis&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Foot+abnormalities%22&quot;&gt;Foot abnormalities&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Meta-analysis%22&quot;&gt;Meta-analysis&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Disease+prevalence%22&quot;&gt;Disease prevalence&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Descriptive+statistics%22&quot;&gt;Descriptive statistics&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Age+distribution%22&quot;&gt;Age distribution&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22MEDLINE%22&quot;&gt;MEDLINE&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Systematic+reviews%22&quot;&gt;Systematic reviews&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Medical+databases%22&quot;&gt;Medical databases&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Online+information+services%22&quot;&gt;Online information services&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Confidence+intervals%22&quot;&gt;Confidence intervals&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Knee+injuries%22&quot;&gt;Knee injuries&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Genetic+testing%22&quot;&gt;Genetic testing&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Rett syndrome (RTT), a developmental disorder primarily affecting girls and linked to methyl‐CpG binding protein‐2 (MECP2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. Our aim was to delineate the prevalence of orthopaedic conditions in individuals with RTT. Method: Three databases were searched and independently screened by two reviewers to retrieve observational studies published after 2000 that recruited 10 or more patients diagnosed with RTT and reported the prevalence of any orthopaedic conditions (scoliosis, hip displacement, knee problems or foot deformities). A random‐effects meta‐analysis was performed to determine the pooled prevalence based on study weight. Results: Of 867 screened studies, 21 studies involving 9997 girls with RTT (mean age 14.1 years; range, 3–38.5) met the inclusion criteria. The pooled prevalence of scoliosis was 64.5% [95% confidence interval (CI) 55.4–73.6%; I2 = 99%; P &lt; 0.01], of hip displacement was 29.6% (95% CI 8.9–50.2%; I2 = 97%; P &lt; 0.01) and of foot deformities was 53% (95% CI 17.5–89.2%; I2 = 98%; P &lt; 0.01). Knee problems were reported in only one study. Scoliosis prevalence increased in studies with a high percentage of genetic testing and MECP2 positivity [69.1% (95% CI 58.9–79.2%; I2 = 99%; P &lt; 0.01)], those with a mean age over 13 years [73% (95% CI 59.1–87%; I2 = 100%; P &lt; 0.01)], and studies combining both variables [80.13% (95% CI 70.8–89.4%; I2 = 81%; P &lt; 0.01)]. Conclusions: This meta‐analysis found that approximately two in three girls with RTT develop scoliosis, one in two exhibit foot deformities and one in three experience hip displacement. These findings enhance our understanding of the prevalence of orthopaedic conditions in RTT, which can guide the establishment of surveillance protocols, clinical guidelines and management strategies tailored to the needs of RTT patients. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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      – Type: doi
        Value: 10.1111/jir.13193
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 13
        StartPage: 1331
    Subjects:
      – SubjectFull: Hip joint dislocation
        Type: general
      – SubjectFull: Medical information storage & retrieval systems
        Type: general
      – SubjectFull: Rett syndrome
        Type: general
      – SubjectFull: Scoliosis
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      – SubjectFull: Foot abnormalities
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      – SubjectFull: Meta-analysis
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      – SubjectFull: Disease prevalence
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      – SubjectFull: Descriptive statistics
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      – SubjectFull: Age distribution
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      – SubjectFull: MEDLINE
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      – SubjectFull: Systematic reviews
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      – SubjectFull: Medical databases
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      – SubjectFull: Online information services
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      – SubjectFull: Confidence intervals
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      – SubjectFull: Knee injuries
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      – SubjectFull: Genetic testing
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            – D: 01
              M: 12
              Text: Dec2024
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