{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:13:43Z","timestamp":1745554423639,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Public Health Genomics"],"published-print":{"date-parts":[[1999]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; To investigate etiological factors in severe mental retardation (SMR). &lt;i&gt;Methods:&lt;\/i&gt; An etiological study is presented of 512 SMR patients in five specialized institutions in Havana. &lt;i&gt;Results:&lt;\/i&gt; Prenatal, perinatal and postnatal causes were apparent in 58.0, 24.8 and 11.1% of the patients, respectively; infantile psychosis was determined in only 0.4%. The remaining 5.6% were classified as having SMR of undeterminable origin, i.e. patients with apparently normal pre-, peri- and postnatal histories who had neither dysmorphism nor affected first-degree relatives, and had a normal karyotype and metabolic screen. Among prenatal causes, genetic factors were the most frequent (82.8%), while environmental factors were apparent in only 5.3% of these cases. Of the cases with prenatal genetic etiology, chromosomal aberrations were present in 86.5% (Down syndrome 96.2% and 3.7% other chromosomal aberrations), monogenic disorders in 11.3% [neurocutaneous diseases (32.1%) and fragile X syndrome (25%) were the most frequent], and multifactorial disorders in 2.0%. Thirty-five patients (11.7%) presented multiple congenital anomalies of \u2018prenatal unknown\u2019 causes. The latter group may include unidentifiable chromosomal aberrations, uniparental disomy, de novo mutations and multifactorial or teratogenic factors. &lt;i&gt;Conclusion:&lt;\/i&gt; Accurate determination of the etiology of SMR is important not only for genetic counseling purposes, but also in identifying prenatal events which make infants more vulnerable to perinatal risk factors.<\/jats:p>","DOI":"10.1159\/000016210","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:25:18Z","timestamp":1050427518000},"page":"184-189","source":"Crossref","is-referenced-by-count":1,"title":["Etiological Characterization of 512 Severely Mentally Retarded Institutionalized Patients in Havana"],"prefix":"10.1159","volume":"2","author":[{"given":"Aracely","family":"Lantigua-Cruz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fidel","family":"Mora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Arechaederra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iris","family":"Rojas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estela","family":"Morales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hayd\u00e9e","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Vi\u00f1as","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos E.","family":"Noa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Barrios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2000,6,13]]},"container-title":["Public Health Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/16210","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/16210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:41:41Z","timestamp":1745469701000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000016210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2000,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000016210","archive":["Portico"],"relation":{},"ISSN":["1662-4246","1662-8063"],"issn-type":[{"type":"print","value":"1662-4246"},{"type":"electronic","value":"1662-8063"}],"subject":[],"published":{"date-parts":[[1999]]}}}