{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T07:03:13Z","timestamp":1768287793419,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5634,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fragile X (or Martin\u2010Bell) syndrome is an X\u2010linked disorder that often produces mental retardation in males, but usually affects heterozygous females to a lesser degree. Here we report the results of a brief neuropsychological examination of 20 heterozygous fra(x) girls and women and two control groups of 20 individuals each. One control group was composed of fra(x)\u2010negative mothers (obligate carriers) and sisters of male probands with fra(x) syndrome, whereas the other was composed of 14 head\u2010injured and six learning disabled women and girls. In addition to general intellectual impairment, several specific cognitive deficits were consistently found in individuals with the Martin\u2010Bell syndrome, suggesting focal neuropsychological dysfunction.<\/jats:p><jats:p>Significant differences were noted between fra(x) individuals and controls on most cognitive and neuropsychological measures studied. Over one\u2010third of the fra(x) individuals demonstrated neuropsychological symptoms characteristic of the full developmental Gerstmann syndrome, whereas another third had three or four of the five signs of possible parietal lobe dysfunction. In our sample, there was an association between improved performance and increasing age. Differences among heterozygous individuals in number of focal symptoms may reflect some variability in the penetrance of the fra(x) gene, as well as in the functional organization of the brain.<\/jats:p>","DOI":"10.1002\/ajmg.1320350107","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:34:51Z","timestamp":1118547291000},"page":"28-35","source":"Crossref","is-referenced-by-count":50,"title":["Neuropsychological dysfunction among affected heterozygous fragile X females"],"prefix":"10.1002","volume":"35","author":[{"given":"James P.","family":"Grigsby","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda B.","family":"Kemper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Randi J.","family":"Hagerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol S.","family":"Myers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.24.2.176"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/89.2.183"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140413"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230110"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1940.02280080158009"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1942.02290120042003"},{"key":"e_1_2_1_8_1","volume-title":"The Assessment of Aphasia and Related Disorders","author":"Goodglass H","year":"1983"},{"key":"e_1_2_1_9_1","unstructured":"GnigsbyJP MyersCS(1987):Neuropsychological findings among heterozygous fragile X females. Paper presented at the National Fragile X Conference Denver Colorado."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0028-3932(87)90093-5"},{"key":"e_1_2_1_11_1","first-page":"627","article-title":"Fragile X syndrome","volume":"11","author":"Hagerman R","year":"1987","journal-title":"Curr Prob Pediatr"},{"key":"e_1_2_1_12_1","first-page":"83","volume-title":"The Fragile X Syndrome: Diagnosis, Biochemistry, Intervention","author":"Hagerman RJ","year":"1983"},{"key":"e_1_2_1_13_1","unstructured":"HagermanR CronisterA SchreinerR WittenbergerM HarrisK ShedwellD(1988):Behavioral physical and cognitive features of heterozygous fragile X females. Presented to the 8th World Congress of the International Association for the Scientific Study of Mental Deficiency. Trinity College Dublin Ireland. 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