{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T19:16:15Z","timestamp":1787944575885,"version":"build-2784847793"},"reference-count":36,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,6,15]],"date-time":"2022-06-15T00:00:00Z","timestamp":1655251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including <jats:italic>MECP2<\/jats:italic>, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed a broad phenotypic rescue in transgenic mice. With human clinical trials on the horizon, there is a need to develop clinical outcome measures for MDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We surveyed caregivers of MDS individuals to explore the frequency and severity of MDS clinical features, and identify the most meaningful symptoms\/domains that need to be included in the outcome measure scales.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 101 responses were eligible for the survey. The top six most meaningful symptoms to caregivers in descending order included epilepsy, gross motor, fine motor, communication, infection, and constipation problems. Epilepsy was present in 58.4% of the subjects and 75% were drug\u2010resistant, Furthermore, ~12% required intensive care unit (ICU) admission. Infections were present in 55% of the subjects, and one\u2010fourth of them required ICU admission. Constipation was present in ~85% of the subjects and one\u2010third required enemas\/suppositories.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study is one of the largest cohorts conducted on MDS individuals characterizing the frequency and severity of MDS symptoms. Additionally, these study results will contribute to establishing a foundation to develop parent\u2010reported outcomes in MDS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1989","type":"journal-article","created":{"date-parts":[[2022,6,15]],"date-time":"2022-06-15T07:40:49Z","timestamp":1655278849000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Exploring the characteristics and most bothersome symptoms in <scp><i>MECP2<\/i><\/scp> duplication syndrome to pave the path toward developing <scp>parent\u2010oriented<\/scp> outcome measures"],"prefix":"10.1002","volume":"10","author":[{"given":"Muharrem","family":"Ak","sequence":"first","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Suter","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Blue Bird Circle Rett Center Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zekeriya","family":"Akturk","sequence":"additional","affiliation":[{"name":"Institute of General Practice and Health Services Research, School of Medicine Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Harris","sequence":"additional","affiliation":[{"name":"The Meyer Center for Developmental Pediatrics  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Bowyer","sequence":"additional","affiliation":[{"name":"IONIS Pharmaceuticals  Carlsbad California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Mignon","sequence":"additional","affiliation":[{"name":"IONIS Pharmaceuticals  Carlsbad California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sasidhar","family":"Pasupuleti","sequence":"additional","affiliation":[{"name":"Bioinformatics Core, Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Glaze","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Blue Bird Circle Rett Center Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5788-0270","authenticated-orcid":false,"given":"Davut","family":"Pehlivan","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Blue Bird Circle Rett Center Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,15]]},"reference":[{"key":"e_1_2_10_2_1","volume-title":"The Capute scales: Cognitive adaptive test\/clinical linguistic & auditory milestone scale (CAT\/CLAMS)","author":"Accardo P. 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