{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T10:36:31Z","timestamp":1766486191838},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4175,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fourteen families of children with infantile nephropathic cystinosis were evaluated using the Standford\u2010Binet Intelligence Scale, Fourth Edition [Thorndike et al., 1986: Stanford\u2010Binet Intelligence Scale, Fourth Ed.]. The IQs of 15 children with cystinosis, their 23 sibs and 24 parents were compared in order to evaluate a potential effect of cystinosis on intelligence. Children with cystinosis had a significantly lower lmean IQ then their sibs and their parents (<jats:italic>P<\/jats:italic> = .001). Thus, even though the mean IQ of the children with cystinosis (94.4 \u00b1 10) was within the average range, there is evidence that these children have a mild global intellectual deficit relative to their expected IQ based upon the IQs of other relatives. In addition, to a subset of the subjects we administered a measure of scholastic ability, the Wide Range Achievement Test\u2010Revised [Jastak and Wilkinson, 1984: The Wide Range Achievement Test\u2010Revised], which consists of spelling, reading, and arithmetic substests. The 11 cystinosis subjects scored significantly lower (<jats:italic>P<\/jats:italic> = .01) than their 16 sibs and their 14 parents in the area of spelling, whereas they did not significantly differ in their performance in the areas of reading and arithmetic. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490115","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T21:53:47Z","timestamp":1123538027000},"page":"83-87","source":"Crossref","is-referenced-by-count":23,"title":["Global intellectual deficits in cystinosis"],"prefix":"10.1002","volume":"49","author":[{"given":"Barbara L. H.","family":"Williams","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry A.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris A.","family":"Trauner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"266","volume-title":"Differential Psychology","author":"Anastasi A","year":"1958"},{"key":"e_1_2_1_3_1","volume-title":"The Wide Range Achievement Test\u2010Revised","author":"Jastak S","year":"1984"},{"key":"e_1_2_1_4_1","first-page":"966","article-title":"Nephropathic cystinosis with central nervous system in volvement","volume":"83","author":"Jonas AJ","year":"1987","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00685392"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7610.1990.tb00812.x"},{"key":"e_1_2_1_7_1","first-page":"1240","article-title":"Further characterization of the visual processing deficit in nephropathic cystinosis","volume":"16","author":"Nichols SN","year":"1990","journal-title":"Society for Neuroscience Abstracts"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(90)90004-K"},{"key":"e_1_2_1_9_1","first-page":"1330","article-title":"Nonabsorptive hydrocephalus associated with nephropathic cystinosis","volume":"32","author":"Ross DL","year":"1982","journal-title":"Neural"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004583-198401000-00003"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1542\/peds.58.2.259","article-title":"A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine","volume":"58","author":"Schwartz CJ","year":"1976","journal-title":"Pediatr"},{"key":"e_1_2_1_12_1","volume-title":"Stanford\u2010Binet Intelligence Scale","author":"Thorndike R","year":"1986"},{"key":"e_1_2_1_13_1","first-page":"436","article-title":"Patterns of visual memory dysfunction in children with cystinosis","volume":"26","author":"Trauner DA","year":"1989","journal-title":"Ann of Neurol"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80214-2"},{"key":"e_1_2_1_15_1","first-page":"475","volume-title":"The Psychology of Human Differences","author":"Tyler LE","year":"1965"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199011000-00005"},{"key":"e_1_2_1_17_1","unstructured":"WolffG EhrichJH OffnerG BodehlJ(1989):Cognitive and scholastic functioning in patients with Infantile Nephropathic Cystinosis. VIIth Congress of the International Ped Nephrol Assn Toronto #8.007."},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1982.tb09564.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320490115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320490115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T03:21:38Z","timestamp":1698117698000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320490115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,1]]}},"alternative-id":["10.1002\/ajmg.1320490115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320490115","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,1]]}}}