{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T12:18:20Z","timestamp":1788265100019,"version":"build-2803163510"},"reference-count":73,"publisher":"Becaris Publishing Limited","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Comp. Eff. Res."],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    <jats:bold>Aim:<\/jats:bold>\n                    To synthesize evidence on the multisystem clinical burden of Rett syndrome, integrating comorbidity prevalence and concomitant medication use to inform proactive care.\n                    <jats:bold>Materials &amp; methods:<\/jats:bold>\n                    A structured search of PubMed, Embase and Cochrane (January 2000 to July 2024), plus gray literature, identified clinical trials, observational studies, registries, and case series (n\u00a0&gt;10). Non-English articles, case reports, reviews and commentaries were excluded. Two investigators independently screened studies, extracted data and synthesized the evidence using a descriptive approach with evidence mapping.\n                    <jats:bold>Results:<\/jats:bold>\n                    Of 6253 records screened, 148 studies met inclusion criteria, spanning 24 countries and participants aged 7\u00a0months to 37\u00a0years. Neurological, musculoskeletal and developmental manifestations predominated (reported in 62.0%, 44.0% and 41.0% of studies, respectively). Epilepsy prevalence ranged from 15.0% to 91.0%, scoliosis 8.9\u2013100% and gastrointestinal dysfunction was common, including constipation (16.4\u201382.8%) and gastroesophageal reflux (15.8\u2013100.0%). Hand stereotypies were reported in 11.4% of studies, with prevalence of 70.0\u2013100.0%. Among studies reporting developmental burden, inability to walk ranged from 19.0% to 100.0%. Additional comorbidities included sleep, oral, and endocrine disorders, among others. Antiepileptic medications contributed most to treatment burden (14.3\u201333.0% for monotherapy). Other commonly used medications targeted sleep (melatonin, 7.7\u201330.0%), gastrointestinal symptoms (proton-pump inhibitors, 37.0\u201361.0%) and behavioral symptoms (anti-anxiety agents, 10.0\u201321.4%).\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    Rett syndrome imposes a substantial, lifelong multisystem burden requiring continuous surveillance. Findings highlight the importance of anticipatory, multidisciplinary care rather than symptom-driven management. Patterns of medication use, particularly for epilepsy, reflect reliance on symptom-directed therapies and highlight the need for routine medication review, careful prescribing and longitudinal monitoring to optimize outcomes.\n                  <\/jats:p>","DOI":"10.57264\/cer-2026-0100","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T09:56:33Z","timestamp":1787046993000},"source":"Crossref","is-referenced-by-count":0,"title":["A global literature review of comorbidities and concomitant supportive medications among individuals with Rett syndrome"],"prefix":"10.57264","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4227-1234","authenticated-orcid":false,"given":"Nazia","family":"Rashid","sequence":"first","affiliation":[{"name":"Medical Affairs, Acadia Pharmaceuticals, San Diego, CA 92130, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4878-0822","authenticated-orcid":false,"given":"Krithika","family":"Rajagopalan","sequence":"additional","affiliation":[{"name":"Anlitiks Inc., Windermere, FL 34786, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safiuddin Shoeb","family":"Syed","sequence":"additional","affiliation":[{"name":"Anlitiks Inc., Windermere, FL 34786, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chijioke M","family":"Okeke","sequence":"additional","affiliation":[{"name":"University of Houston, College of Pharmacy, Houston, TX 77204, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina Nwamaka","family":"Nechi","sequence":"additional","affiliation":[{"name":"The Ohio State University, College of Pharmacy, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9107-8561","authenticated-orcid":false,"given":"Ismaeel","family":"Yunusa","sequence":"additional","affiliation":[{"name":"University of South Carolina, College of Pharmacy, Columbia, SC 29208, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"36897","reference":[{"key":"e_1_3_9_3_2","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1021\/acschemneuro.7b00346","article-title":"Rett syndrome: a genetic update and clinical review focusing on comorbidities","volume":"9","author":"Gold WA","year":"2018","unstructured":"Gold WA, Krishnarajy R, Ellaway C, Christodoulou J. 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