{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T11:47:09Z","timestamp":1747223229057,"version":"3.40.5"},"reference-count":0,"publisher":"Pensoft Publishers","issue":"1","license":[{"start":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T00:00:00Z","timestamp":1646006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FM"],"abstract":"<jats:p><jats:bold>Introduction:<\/jats:bold> Fragile X syndrome (FXS, OMIM #300624) is the most common inherited form of intellectual disability and the leading monogenic cause of autism.&amp;nbsp;<\/jats:p>\n          <jats:p><jats:bold>Aim: <\/jats:bold>To present our experience with selective screening for FXS among high-risk children with intellectual disability\/developmental delay\/autistic behaviour and to further prove the importance of performing selective screening in a high-risk population.<\/jats:p>\n          <jats:p><jats:bold>Materials and methods:<\/jats:bold> Fifty-two children (45 boys and 7 girls) hospitalized in pediatric clinics or referred to genetic counseling services were tested with triplet repeat primed PCR based commercial kit. The mean age of participants was 6 years (the youngest was 2 years old, the oldest - 15 years old). These patients were selected based on the presence of at least one of the following clinical features: developmental delay, intellectual disability, and autistic-like behaviour.<\/jats:p>\n          <jats:p><jats:bold>Results: <\/jats:bold>All patients presented with developmental delay, including language delay. Intellectual disability and autistic-like behaviour were the most consistent features. Thirty-three children (63.4%) were with intellectual disability. Autism and autistic-like behaviour were observed in 22 patients (42.3%). Only 9 male patients (17.3%) presented with dysmorphic features typical for FXS. Three boys (5.7%) were found to be affected and two of their mothers - premutation carriers.&amp;nbsp;<\/jats:p>\n          <jats:p><jats:bold>Conclusions: <\/jats:bold>The present study is the first attempt for molecular genetic selective screening for FXS among high-risk groups in north-eastern Bulgaria. Screening for FXS helps in making a definitive diagnosis along with providing genetic counseling to the family which includes reproductive planning and risk assessment.<\/jats:p>","DOI":"10.3897\/folmed.64.e60518","type":"journal-article","created":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T09:07:01Z","timestamp":1646125621000},"page":"27-32","source":"Crossref","is-referenced-by-count":0,"title":["Molecular screening for fragile X syndrome in children with unexplained intellectual disability and\/or autistic behaviour"],"prefix":"10.3897","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8604-2057","authenticated-orcid":true,"given":"Milena","family":"Stoyanova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Hachmeriyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9358-7263","authenticated-orcid":true,"given":"Mariya","family":"Levkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stoyan","family":"Bichev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miglena","family":"Georgieva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vilhelm","family":"Mladenov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyudmila","family":"Angelova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2258","published-online":{"date-parts":[[2022,2,28]]},"container-title":["Folia Medica"],"original-title":[],"link":[{"URL":"https:\/\/foliamedica.bg\/article\/60518\/download\/pdf\/","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/foliamedica.bg\/article\/60518\/download\/xml\/","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/foliamedica.bg\/article_preview.php?id=60518&skip_redirect=1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T09:07:02Z","timestamp":1646125622000},"score":1,"resource":{"primary":{"URL":"https:\/\/foliamedica.bg\/article\/60518\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,28]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,2,28]]}},"URL":"https:\/\/doi.org\/10.3897\/folmed.64.e60518","relation":{},"ISSN":["1314-2143","0204-8043"],"issn-type":[{"type":"electronic","value":"1314-2143"},{"type":"print","value":"0204-8043"}],"subject":[],"published":{"date-parts":[[2022,2,28]]}}}