{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:37:03Z","timestamp":1791398223675,"version":"4.3.3"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,2,10]],"date-time":"2004-02-10T00:00:00Z","timestamp":1076371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study examined the cross\u2010sectional medical and social characteristics of children diagnosed with congenital central hypoventilation syndrome (CCHS). A detailed questionnaire was mailed to all families with a child with CCHS who are affiliated with a family network or support group. The questionnaire response rate was &gt;75% (n\u2009=\u2009196). Mean age was 10.22 years \u00b16.6 years (SD) (range, 0.4\u201338 years), with a 1:1 sex ratio. Multisystem involvement was almost universal among the cohort, with Hirschsprung's disease (HD) present in 16.3%; 61.7% of the children had a tracheotomy, but 14.3% were never tracheotomized, with 77 subjects (39.3%) not having a tracheostomy tube at time of survey. Respiratory support approaches varied but clearly reflected the trend towards earlier and more widespread transition to noninvasive ventilatory modalities. Significant developmental problems were noted, but attendance in regular classes occurred in the majority. Significant deficiencies in routine periodic evaluation and management were reported. In addition, the presence of CCHS was associated with a significant financial and psychosocial burden to the families. In conclusion, a comprehensive survey of 196 CCHS children and their families revealed a cross\u2010sectional picture of substantial medical and psychosocial complexities associated with this disorder, and pointed out substantial inadequacies in routine preventive care that appear to impose stress on the families. The emerging trend of earlier transition to noninvasive ventilatory support warrants future studies. Implementation of recommended guidelines for diagnosis and multidisciplinary follow\u2010up of CCHS should ultimately ameliorate the long\u2010term outcome of this lifelong condition. Pediatr Pulmonol. 2004; 37:217\u2013229. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ppul.10438","type":"journal-article","created":{"date-parts":[[2004,2,11]],"date-time":"2004-02-11T09:00:59Z","timestamp":1076490059000},"page":"217-229","source":"Crossref","is-referenced-by-count":151,"title":["Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome"],"prefix":"10.1002","volume":"37","author":[{"given":"Mary","family":"Vanderlaan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl R.","family":"Holbrook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Tuell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gozal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,2,10]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197011000-00003"},{"key":"e_1_2_1_3_2","unstructured":"GaultierC.Congenital central hypoventilation alveolar syndrome: an orphan disorder.Lecture abstracts Second International Symposium on CCHS Facult\u00e9 de M\u00e9decine Bichat Universit\u00e9 Paris February2002."},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(199810)26:4<273::AID-PPUL7>3.0.CO;2-C"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197811000-00003"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(94)90084-1"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(200005)29:5<351::AID-PPUL3>3.0.CO;2-Z"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0034-5687(98)00073-5"},{"key":"e_1_2_1_9_2","first-page":"781","article-title":"Symptoms of inadequate ventilation in congenital central hypoventilation syndrome","volume":"159","author":"Shea SA","year":"1999","journal-title":"Am J Respir Crit Care Med"},{"key":"e_1_2_1_10_2","doi-asserted-by":"crossref","first-page":"176","DOI":"10.3928\/0191-3913-19960501-11","article-title":"Congenital central hypoventilation syndrome: ocular finds in 37 children","volume":"33","author":"Goldberg DS","year":"1996","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10133"},{"key":"e_1_2_1_12_2","first-page":"66","article-title":"From tracheostomy to non\u2010invasive mask ventilation: a study in children with congenital central hypoventilation syndrome","volume":"94","author":"Schafer T","year":"1999","journal-title":"Med Klin"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83038-0"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80901-1"},{"key":"e_1_2_1_15_2","first-page":"159","article-title":"CCHS children in North America: medical and home\u2010care issues","volume":"23","author":"Vanderlaan MB","year":"1997","journal-title":"Pediatr Pulmonol"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.160.1.16010"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.1950200207"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm\/147.5.1185"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1378\/chest.103.5.1560"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(199707)24:1<66::AID-PPUL12>3.0.CO;2-8"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80902-3"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.10438","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.10438","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:20:19Z","timestamp":1700166019000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.10438"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,10]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,3]]}},"alternative-id":["10.1002\/ppul.10438"],"URL":"https:\/\/doi.org\/10.1002\/ppul.10438","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,10]]}}}