{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T15:40:42Z","timestamp":1767109242127},"reference-count":54,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4406,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Background: The oculocerebrorenal syndrome of Lowe (OCRL) is an X\u2010linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Significant behavioral difficulties have been reported, but no formal study of intelligence or behavior has been described. Methods: We surveyed IQ and behavior using archival data and standardized instruments in 47 affected males. Results: Mean IQ was in the moderate mental retardation range (40 \u2264 IQ \u2264 54), with 25% of tested individuals in normal range (IQ \u2265 70). The OCRL population was comparable to a normative population with mental retardation in language, communication, and socialization skills, but lower in independent living skills than means of either populations of individuals with mental retardation or visual impairment. Maladaptive behaviors, particularly stubbornness, temper tantrums, and stereotypic behaviors, were very frequent (&gt;80%). Conclusions: The diagnosis of OCRL is compatible with normal intelligence. Maladaptive behaviors significantly interfere with adaptive functions. These behaviors appear to define a characteristic behavioral phenotype in OCRL. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460312","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:56:09Z","timestamp":1118508969000},"page":"297-303","source":"Crossref","is-referenced-by-count":40,"title":["Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe"],"prefix":"10.1002","volume":"46","author":[{"given":"Lauren","family":"Kenworthy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taesung","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence 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