{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T18:24:20Z","timestamp":1776277460958,"version":"3.50.1"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,12,3]],"date-time":"2009-12-03T00:00:00Z","timestamp":1259798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Chicago Community Foundation PHOX2B Patent Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Examine indices of neurocognitive functioning in children with <jats:italic>PHOX2B<\/jats:italic> mutation\u2010confirmed neonatal onset congenital central hypoventilation syndrome (CCHS) and relate them to indices of <jats:italic>PHOX2B<\/jats:italic> genotype, demographics, and disease severity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Subjects were 20 patients with <jats:italic>PHOX2B<\/jats:italic> mutation\u2010confirmed CCHS diagnosed as neonates who had undergone neurocognitive assessment in the course of clinical care at the Rush Children's Hospital CCHS Center between 1990 and 2006. Neurocognitive variables of interest included Full Scale IQ (FSIQ) and Wechsler\u2010derived marker indices (subtests) of verbal comprehension (Vocabulary), visuoperceptual reasoning (Block Design), working memory (Digit Span), and clerical\/processing speed (Coding).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Single sample <jats:italic>t<\/jats:italic>\u2010tests revealed participants' general intelligence index (FSIQ; mean 84.9, SD 23.6) to be lower than the general population, though the range of FSIQ observed was broad. Visuoperceptual reasoning and clerical\/visuographic speed marker indices were similarly depressed. These deficits were related to special education participation but not to <jats:italic>PHOX2B<\/jats:italic> genotype status or other demographic and clinical risk factors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>PHOX2B<\/jats:italic> mutation\u2010confirmed CCHS confers risk for adverse neurocognitive outcome, though the range of functioning observed raises questions about factors that may contribute to neurocognitive variability. Visuoperceptual reasoning and clerical\/visuographic speed appear particularly vulnerable. <jats:italic>PHOX2B<\/jats:italic> genotype and disease severity indicators were unrelated to neurocognitive indices, possibly due to our modest sample. Future research should employ comprehensive neurocognitive assessment emphasizing visuoperceptual ability, mental speed, attention, and information processing efficiency. Increased recognition and expedited diagnosis with <jats:italic>PHOX2B<\/jats:italic> testing should allow larger studies of the relationship between neurocognitive functioning, <jats:italic>PHOX2B<\/jats:italic> genotype\/mutation, and disease severity and management. Pediatr Pulmonol. 2010; 45:92\u201398. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.21170","type":"journal-article","created":{"date-parts":[[2009,12,3]],"date-time":"2009-12-03T23:57:57Z","timestamp":1259884677000},"page":"92-98","source":"Crossref","is-referenced-by-count":57,"title":["Congenital central hypoventilation syndrome: Neurocognitive functioning in school age children"],"prefix":"10.1002","volume":"45","author":[{"given":"Frank A.","family":"Zelko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael N.","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue E.","family":"Leurgans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth 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