{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T16:33:05Z","timestamp":1788885185881,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Rationale<\/jats:title><jats:p>Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by alveolar hypoventilation and variable autonomic nervous system (ANS) dysfunction (ANSD) due to mutations in <jats:italic>PHOX2B<\/jats:italic>, a gene crucial for ANS neural crest lineage differentiation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives and Methods<\/jats:title><jats:p>Our prospective study aims were twofold: to (1) assess the relationships between the subjective Composite Autonomic Symptom Score (COMPASS)\u201031 and objective indices of ANSD obtained from heart rate variability analyses, ambulatory blood pressure (BP) monitoring, and CO<jats:sub>2<\/jats:sub> chemosensitivities and (2) describe the organ system ANSD, its relationship to <jats:italic>PHOX2B<\/jats:italic> genotype, and its consequences on quality of life (PedsQL) in children with CCHS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010two <jats:italic>PHOX2B<\/jats:italic> mutation\u2010confirmed subjects (median [range] age 9.2 years (4.4; 18.0), 15 girls) were enrolled. COMPASS\u201031 was assessed in 32 matched (sex and age, range: 4.3; 18.9 years) healthy controls. As compared to healthy controls, children with CCHS had increased vasomotor (<jats:italic>p\u2009<\/jats:italic>=\u20090.001), secretomotor (<jats:italic>p\u2009<\/jats:italic>=\u20090.021), gastrointestinal (<jats:italic>p\u2009<\/jats:italic>=\u20090.002) and pupillomotor (<jats:italic>p\u2009<\/jats:italic>=\u20090.028) scores and decreased orthostatic intolerance scores (<jats:italic>p\u2009<\/jats:italic>=\u20090.050). There was no difference in overall COMPASS\u201031 score between CCHS and controls (<jats:italic>p\u2009<\/jats:italic>=\u20090.083). However, in CCHS, overall COMPASS\u201031 scores correlated with high frequencies (HF) normalized (cardiac parasympathetic modulation: R\u2009=\u2009\u22120.53; <jats:italic>p<\/jats:italic>\u2009=\u20090.002), low frequencies (LF)\/HF ratio (R\u2009=\u20090.56; <jats:italic>p<\/jats:italic>&lt;\u20090.001), and both systolic and diastolic nighttime BP dipping (R\u2009=\u20090.45, <jats:italic>p<\/jats:italic>\u2009=\u20090.012 and R\u2009=\u20090.40, <jats:italic>p\u2009<\/jats:italic>=\u20090.028, respectively). No significant relationships between COMPASS\u201031 scores and chemosensitivity testing, PedsQL scores, or <jats:italic>PHOX2B<\/jats:italic> genotype were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>COMPASS\u201031 identified some aspects of CCHS\u2010related ANSD, and scores correlate with objective ANS function measures, supporting the potential utility of COMPASS\u201031 in CCHS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.71072","type":"journal-article","created":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T20:51:57Z","timestamp":1743367917000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Reliability of Composite Autonomic Symptom Score (COMPASS)\u201031 in Congenital Central Hypoventilation Syndrome"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0827-616X","authenticated-orcid":false,"given":"Benjamin","family":"Dudoignon","sequence":"first","affiliation":[{"name":"Service de Physiologie P\u00e9diatrique \u2010Centre du Sommeil \u2010 CRMR Hypoventilations alv\u00e9olaires rares, AP\u2010HP, H\u00f4pital Robert Debr\u00e9, INSERM NeuroDiderot Universit\u00e9 de Paris Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Plamen","family":"Bokov","sequence":"additional","affiliation":[{"name":"Service de Physiologie P\u00e9diatrique \u2010Centre du Sommeil \u2010 CRMR Hypoventilations alv\u00e9olaires rares, AP\u2010HP, H\u00f4pital Robert Debr\u00e9, INSERM NeuroDiderot Universit\u00e9 de Paris Cit\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Benterki","sequence":"additional","affiliation":[{"name":"Service de Physiologie P\u00e9diatrique AP\u2010HP, H\u00f4pital Robert Debr\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Couque","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique AP\u2010HP, H\u00f4pital Robert Debr\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1077-8978","authenticated-orcid":false,"given":"Casey M.","family":"Rand","sequence":"additional","affiliation":[{"name":"Division of Autonomic Medicine, Department of Pediatrics Ann &amp; Robert H. 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