{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:28:36Z","timestamp":1791494916825,"version":"4.3.4"},"reference-count":31,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,12,25]],"date-time":"2024-12-25T00:00:00Z","timestamp":1735084800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Spanish Ministry of Health","award":["PI15\/01159"],"award-info":[{"award-number":["PI15\/01159"]}]},{"name":"Spanish Ministry of Health","award":["PI20\/00389"],"award-info":[{"award-number":["PI20\/00389"]}]},{"name":"Spanish Ministry of Health","award":["2020 FI-B 00888"],"award-info":[{"award-number":["2020 FI-B 00888"]}]},{"name":"Spanish Ministry of Health","award":["PFNR0085"],"award-info":[{"award-number":["PFNR0085"]}]},{"name":"Government of Catalonia (Secretaria d\u2019Universitats I Recerca)","award":["PI15\/01159"],"award-info":[{"award-number":["PI15\/01159"]}]},{"name":"Government of Catalonia (Secretaria d\u2019Universitats I Recerca)","award":["PI20\/00389"],"award-info":[{"award-number":["PI20\/00389"]}]},{"name":"Government of Catalonia (Secretaria d\u2019Universitats I Recerca)","award":["2020 FI-B 00888"],"award-info":[{"award-number":["2020 FI-B 00888"]}]},{"name":"Government of Catalonia (Secretaria d\u2019Universitats I Recerca)","award":["PFNR0085"],"award-info":[{"award-number":["PFNR0085"]}]},{"name":"European Social Fund","award":["PI15\/01159"],"award-info":[{"award-number":["PI15\/01159"]}]},{"name":"European Social Fund","award":["PI20\/00389"],"award-info":[{"award-number":["PI20\/00389"]}]},{"name":"European Social Fund","award":["2020 FI-B 00888"],"award-info":[{"award-number":["2020 FI-B 00888"]}]},{"name":"European Social Fund","award":["PFNR0085"],"award-info":[{"award-number":["PFNR0085"]}]},{"name":"S\u00edndrome duplicaci\u00f3n MECP2: Miradas que hablan","award":["PI15\/01159"],"award-info":[{"award-number":["PI15\/01159"]}]},{"name":"S\u00edndrome duplicaci\u00f3n MECP2: Miradas que hablan","award":["PI20\/00389"],"award-info":[{"award-number":["PI20\/00389"]}]},{"name":"S\u00edndrome duplicaci\u00f3n MECP2: Miradas que hablan","award":["2020 FI-B 00888"],"award-info":[{"award-number":["2020 FI-B 00888"]}]},{"name":"S\u00edndrome duplicaci\u00f3n MECP2: Miradas que hablan","award":["PFNR0085"],"award-info":[{"award-number":["PFNR0085"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: MECP2 duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. Methods: A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024. Epidemiological, clinical, and molecular data were collected. A standardized clinical questionnaire was collaboratively developed with input from physicians and parents. Patient photographs were used to train Face2Gene. Results: Thirty-five patients (0\u201324 years, 30 males) were included. Key features in males comprised intellectual disability (100%), hypotonia (93%), autism spectrum disorder (77%) and developmental regression (52%). Recurrent respiratory infections (79%), dysphagia (73%), constipation (73%) and gastroesophageal reflux (57%) were common. Seizures occurred in 53%, with 33% being treatment-refractory. The Face2Gene algorithm was successfully trained to identify MDS. A specific clinical severity scale (MECPDup) was developed and validated, correlating with the MBA (a scale developed for Rett syndrome). The MECPDup score was significantly higher in males (p &lt; 0.001) and those with early death (p = 0.003). It showed significant positive correlations with age (p &lt; 0.001) and duplication size (p = 0.044). Conclusions: This study expands the understanding of MDS through comprehensive clinical and molecular insights. The integration of AI-based facial recognition technology and the development of the MECPDup severity scale hold promise for enhancing diagnostic accuracy, monitoring disease progression, and evaluating treatment responses in individuals affected by MDS.<\/jats:p>","DOI":"10.3390\/diagnostics15010010","type":"journal-article","created":{"date-parts":[[2024,12,25]],"date-time":"2024-12-25T19:19:32Z","timestamp":1735154372000},"page":"10","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables"],"prefix":"10.3390","volume":"15","author":[{"given":"Lourdes","family":"Vega-Hanna","sequence":"first","affiliation":[{"name":"Genetics Department, Hospital Sant Joan de D\u00e9u, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5659-9188","authenticated-orcid":false,"given":"D\u00eddac","family":"Casas-Alba","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Sant Joan de D\u00e9u, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol","family":"Balsells","sequence":"additional","affiliation":[{"name":"Statistics Department, Fundaci\u00f3 de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merc\u00e8","family":"Bolasell","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Sant Joan de D\u00e9u, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Rubio","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Sant Joan de D\u00e9u, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Garc\u00eda-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Clinical Immunology Unit, Hospital Sant Joan de D\u00e9u-Hospital Cl\u00ednic, 08950 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Garc\u00eda-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Servei d\u2019Atenci\u00f3 Ambulat\u00f2ria, Fundaci\u00f3 Aspace Catalunya, 08038 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar","family":"O\u2019Callaghan","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Hospital Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7572-8563","authenticated-orcid":false,"given":"Ainhoa","family":"Pascual-Alonso","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3 de Recerca Sant Joan de D\u00e9u, 08950 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0588-9307","authenticated-orcid":false,"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Sant Joan de D\u00e9u, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"MDS Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0960-3153","authenticated-orcid":false,"given":"Antonio F.","family":"Martinez-Monseny","sequence":"additional","affiliation":[{"name":"Genetics Department, Hospital Sant Joan de D\u00e9u, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1186\/s13023-016-0545-5","article-title":"Rett syndrome\u2014Biological pathways leading from MECP2 to disorder phenotypes","volume":"11","author":"Ehrhart","year":"2016","journal-title":"Orphanet J. 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