{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:59:01Z","timestamp":1792205941319,"version":"4.4.0"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T00:00:00Z","timestamp":1594684800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replacement therapy. This study is the first comprehensive, international investigation of the neurocognitive aspects of 49,XXXXY, and the potential effects of biological treatment on this profile. Sixty\u2010seven boys from infancy to 11\u2009years of age were enrolled in this longitudinal study, with the majority of boys postnatally diagnosed though chromosomal analysis. These boys received a comprehensive neurocognitive evaluation tailored to specific language\u2010based deficits and cognitive challenges. Results revealed higher neurocognitive capacities, both verbally and nonverbally, than previously reported in this disorder. Infant boys with 49,XXXXY who received early hormonal therapy (EHT) had significantly higher scores on the cognitive domain of the Bayley Scales of Infant Development than untreated infants (<jats:italic>p<\/jats:italic>\u00a0=\u00a0.013). In addition, treated school\u2010aged participants had significantly better scaled scores than untreated boys in form completion (<jats:italic>p<\/jats:italic>\u00a0=\u00a0.042), a task that requires deductive reasoning, on nonverbal testing on the Leiter International Performance Scales. This study indicates greater cognitive capacities with a wide range of abilities in the child with 49,XXXXY, thus warranting further investigation to identify and understand the critical influences on the etiology and the variability of those capacities.<\/jats:p>","DOI":"10.1002\/ajmg.a.61736","type":"journal-article","created":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T09:01:33Z","timestamp":1594717293000},"page":"3541-3546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Neurocognitive development and capabilities in boys with 49,<scp>XXXXY<\/scp> syndrome"],"prefix":"10.1002","volume":"185","author":[{"given":"Andrea L.","family":"Gropman","sequence":"first","affiliation":[{"name":"Division of Neurogenetics and Developments Pediatrics Children's National Health System  Washington District of Columbia USA"},{"name":"Department of Neurology George Washington University  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace F.","family":"Porter","sequence":"additional","affiliation":[{"name":"Research Department The Focus Foundation  Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0258-1534","authenticated-orcid":false,"given":"Patricia C.","family":"Lasutschinkow","sequence":"additional","affiliation":[{"name":"Research Department The Focus Foundation  Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Sadeghin","sequence":"additional","affiliation":[{"name":"Research Department The Focus Foundation  Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth S.","family":"Tipton","sequence":"additional","affiliation":[{"name":"Research Department The Focus Foundation  Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherida","family":"Powell","sequence":"additional","affiliation":[{"name":"Department of Economics George Washington University  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9941-0568","authenticated-orcid":false,"given":"Carole A.","family":"Samango\u2010Sprouse","sequence":"additional","affiliation":[{"name":"Research Department The Focus Foundation  Davidsonville Maryland USA"},{"name":"Department of Pediatrics George Washington University  Washington District of Columbia USA"},{"name":"Department of Human and Molecular Genetics Florida International University  Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,14]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Bayley scales of infant and toddler development","author":"Bayley N.","year":"1993"},{"key":"e_1_2_8_3_1","volume-title":"Bayley scales of infant and toddler development","author":"Bayley N.","year":"2005"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2013.01.003"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.016"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1970.tb17710.x"},{"issue":"3","key":"e_1_2_8_7_1","first-page":"277","article-title":"The 49, XXXXY syndrome: Clinical and psychological findings in five patients","volume":"34","author":"Curfs L. 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