{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009931,"version":"build-2736575974"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fragile X syndrome (FXS) is a significant cause of intellectual disability and autism, while Fragile X Premutation \u2010Associated Conditions (FXPAC) are a significant cause of morbidity and mortality globally. This study assessed the level of knowledge and perceptions about FXS and FXPAC among doctors in Nigeria. It was a web\u2010based, cross\u2010sectional study conducted among a cohort of doctors in Nigeria. Socio\u2010demographic profile, knowledge of FXS, perceptions about FXS, knowledge of FXPAC, experience of doctors, and suggested ways of improving knowledge and management of FXS were obtained. Data were analyzed using STATA 16.0. Chi\u2010square and Fisher's exact tests of association were used to determine the association between variables, with the significance level set at\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.05. A total of 274 doctors participated in the study. A significant proportion of respondents had limited knowledge about the clinical features of FXS. Nine of ten (90.0%) participants with good knowledge of FXS had good perceptions of FXS management. This was statistically significant (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001). There was a high nonresponse rate to what FXPAC is (164\/274, 59.9%) among the respondents because of insufficient knowledge. Suboptimal knowledge of FXS which influenced perception was noted among doctors. More strategies should be considered to improve doctors' knowledge and management of FXS and FXPAC in Nigeria.\n                  <\/jats:p>","DOI":"10.1111\/cge.14619","type":"journal-article","created":{"date-parts":[[2024,9,19]],"date-time":"2024-09-19T01:00:05Z","timestamp":1726707605000},"page":"56-66","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Knowledge and perceptions about fragile X syndrome and fragile X\u2010premutation\u2010associated conditions among medical doctors in Nigeria"],"prefix":"10.1111","volume":"107","author":[{"given":"Chioma N. P.","family":"Mbachu","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, College of Health Sciences Nnamdi Azikiwe University, Nnewi Campus  Nnewi Anambra Nigeria"},{"name":"University of California Davis MIND Institute  Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randi","family":"Hagerman","sequence":"additional","affiliation":[{"name":"University of California Davis MIND Institute  Sacramento California USA"},{"name":"Department of Pediatrics University of California Davis Health  Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Eseigbe","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Benue State University and Teaching Hospital  Makurdi Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amalachukwu","family":"Odita","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine, College of Health Sciences Nnamdi Azikiwe University, Nnewi Campus  Nnewi Anambra Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikechukwu","family":"Mbachu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Faculty of Medicine, College of Health Sciences Nnamdi Azikiwe University, Nnewi Campus  Nnewi Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Ilikanu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Federal Medical Centre  Asaba Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasarachi","family":"Akowundu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Lagos University Teaching Hospital  Idi Araba Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chizalu","family":"Ndukwu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty 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Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ifeoma","family":"Udigwe","sequence":"additional","affiliation":[{"name":"Department of Community Medicine, Faculty of Medicine, College of Health Sciences Nnamdi Azikiwe University, Nnewi campus  Nnewi Nigeria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,18]]},"reference":[{"key":"e_1_2_15_2_1","first-page":"1","volume-title":"Fragile X Syndrome and Premutation Disorders Clinics in Developmental Medicine Fragile X Syndrome and Premutation Disorders New Developments and Treatments","author":"Hagerman 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