{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:14Z","timestamp":1784293634214,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,30]],"date-time":"2021-05-30T00:00:00Z","timestamp":1622332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cant\u00fa syndrome (CS) is caused by pathogenic variants in <jats:italic>ABCC9<\/jats:italic> and <jats:italic>KCNJ8<\/jats:italic> encoding the regulatory and pore\u2010forming subunits of ATP\u2010sensitive potassium (K<jats:sub>ATP<\/jats:sub>) channels. CS is characterized by congenital hypertrichosis, distinctive facial features, peripheral edema, and cardiac and neurodevelopmental abnormalities. Behavioral and cognitive issues have been self\u2010reported by some CS individuals, but results of formal standardized investigations have not been published. To assess the cognitive profile, social functioning, and psychiatric symptoms in a large group of CS subjects systematically in a cross\u2010sectional manner, we invited 35 individuals (1\u201369\u2009years) with confirmed <jats:italic>ABCC9<\/jats:italic> variants and their relatives to complete various commonly applied standardized age\u2010related questionnaires, including the Kaufman brief intelligence test 2, the social responsiveness scale\u20102, and the Achenbach system of empirically based assessment. The majority of CS individuals demonstrated average verbal and nonverbal intelligence compared to the general population. Fifteen percent of cases showed social functioning strongly associated with a clinical diagnosis of autism spectrum disorder. Both externalizing and internalizing problems were also present in this cohort. In particular, anxiety, anxiety or attention deficit hyperactivity disorder, and autism spectrum behaviors were predominantly observed in the younger subjects in the cohort (\u226525%), but this percentage decreased markedly in adults.<\/jats:p>","DOI":"10.1002\/ajmg.a.62348","type":"journal-article","created":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T06:51:00Z","timestamp":1622443860000},"page":"2434-2444","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Behavioral and cognitive functioning in individuals with Cant\u00fa syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3409-0756","authenticated-orcid":false,"given":"Helen I.","family":"Roessler","sequence":"first","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine University Medical Center Utrecht, Utrecht University  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieke M.","family":"van der Heuvel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Shields","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin P.","family":"Guilliams","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Division of Pediatric Critical Care, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nine V. 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