{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:20:49Z","timestamp":1762431649518,"version":"3.37.3"},"reference-count":48,"publisher":"Springer Publishing Company","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2019,7,1]]},"abstract":"<jats:p>Congenital central hypoventilation syndrome (CCHS) is a rare and sporadic neurocristopathy characterized by alveolar hypoventilation and autonomic nervous system dysfunction. CCHS manifests quickly after birth, initially as respiratory distress. Mortality risk is estimated at 38 percent, with a median age of death of three months of age. A timely and accurate diagnosis is critical. Genetic testing for <jats:italic>PHOX2B<\/jats:italic> gene mutations is necessary to confirm the diagnosis; however, laboratory turnaround time often imposes an additional 7\u201314-day waiting period on an often anxious family. Neonatal clinicians should recognize that families require disease-specific education, emotional support, and time to rehearse daily caregiving in preparation for discharge. Therefore, this article presents the key clinical, pathophysiologic, and diagnostic factors, as well as a discussion of discharge needs. A case report of an infant, born to parents with no known history of CCHS, is included as a case-based learning opportunity for readers.<\/jats:p>","DOI":"10.1891\/0730-0832.38.4.217","type":"journal-article","created":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T19:13:42Z","timestamp":1562613222000},"page":"217-225","source":"Crossref","is-referenced-by-count":2,"title":["Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians"],"prefix":"10.1891","volume":"38","author":[{"given":"Michelle","family":"Fisher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chelsey","family":"Smeiles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy J.","family":"Jnah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle Elias","family":"Ruiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8634-4925","authenticated-orcid":false,"given":"Tina","family":"Difiore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0405-3789","authenticated-orcid":false,"given":"Kerry","family":"Sewell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"793","published-online":{"date-parts":[[2019,7,8]]},"reference":[{"key":"2019091816390336000_38.4.217.1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200807-1069ST"},{"key":"2019091816390336000_38.4.217.2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197011000-00003"},{"key":"2019091816390336000_38.4.217.3","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.196"},{"key":"2019091816390336000_38.4.217.4","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2009.59"},{"key":"2019091816390336000_38.4.217.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.autneu.2017.11.003"},{"key":"2019091816390336000_38.4.217.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.06.036"},{"key":"2019091816390336000_38.4.217.7","unstructured":"Bass N , Lotze TE , Miller G. Hypotonia and neutomuscular disease in the neonate. In: Martin RJ , Fanaroff AA , Walsh MC , eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 10th ed. Philadelphia, PA: Elsevier\/Saunders; 2015:950\u2013965."},{"key":"2019091816390336000_38.4.217.8","unstructured":"Riccitelli M . The genetics of CCHS. Updated 2018. http:\/\/cchsnetwork.org\/what-is-cchs\/understanding-the-genetics\/. Accessed September 28, 2018."},{"key":"2019091816390336000_38.4.217.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2013.01.005"},{"key":"2019091816390336000_38.4.217.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.003"},{"key":"2019091816390336000_38.4.217.11","doi-asserted-by":"crossref","unstructured":"Shoubridge C , Gecz J . Polyalanine tract disorders and neurocognitive phenotypes. In: Hannan AJ , ed. Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease. Philadelphia, PA: Springer; 2012:185\u2013203.","DOI":"10.1007\/978-1-4614-5434-2_12"},{"key":"2019091816390336000_38.4.217.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104765"},{"key":"2019091816390336000_38.4.217.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2013.05.018"},{"key":"2019091816390336000_38.4.217.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2012.10.008"},{"key":"2019091816390336000_38.4.217.15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38218"},{"key":"2019091816390336000_38.4.217.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2014.06.010"},{"key":"2019091816390336000_38.4.217.17","doi-asserted-by":"crossref","unstructured":"Bhutani VK . Spontaneous breathing. In: Donn SM , Sinha SK , eds. Manual of Neonatal Respiratory Care. 4th ed. Philadelphia, PA: Springer; 2016:43\u201350.","DOI":"10.1007\/978-3-319-39839-6_4"},{"key":"2019091816390336000_38.4.217.18","doi-asserted-by":"crossref","unstructured":"Donn SM , Sinha SK . Manual of Neonatal Respiratory Care. 4th ed. Philadelphia, PA: Springer; 2016.","DOI":"10.1007\/978-3-319-39839-6"},{"key":"2019091816390336000_38.4.217.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2014.06.003"},{"key":"2019091816390336000_38.4.217.20","unstructured":"Patrinos ME . Neonatal apnea and the foundation of respiratory control. In: Martin RJ , Fanaroff AA , Walsh MC , eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. Philadelphia, PA: Elsevier Saunders; 2015:1137\u20131146."},{"key":"2019091816390336000_38.4.217.21","doi-asserted-by":"crossref","unstructured":"Bhutani VK . Pulmonary gas exchange. In: Donn SM , Sinha SK , eds. Manual of Neonatal Respiratory Care. 4th ed. Philadelphia, PA: Springer; 2016:51\u201357.","DOI":"10.1007\/978-3-319-39839-6_5"},{"issue":"7","key":"2019091816390336000_38.4.217.22","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.paed.2013.02.008","article-title":"Paediatric applied respiratory physiology\u2014the essentials","volume":"23","year":"2013","journal-title":"Paediatr Child Health"},{"key":"2019091816390336000_38.4.217.23","unstructured":"Watanabe M , Wikenheiser J . Cardiac embryology. In: Martin RJ , Fanaroff AA , Walsh MC , eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. Philadelphia, PA: Elsevier Saunders; 2015:1188\u20131197."},{"key":"2019091816390336000_38.4.217.24","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.113.302549"},{"key":"2019091816390336000_38.4.217.25","doi-asserted-by":"publisher","DOI":"10.1007\/s10286-007-0421-4"},{"key":"2019091816390336000_38.4.217.26","doi-asserted-by":"publisher","DOI":"10.1042\/CS20040282"},{"key":"2019091816390336000_38.4.217.27","unstructured":"Parry RL . Development of the neonatal gastrointestinal tract. In: Martin RJ , Fanaroff AA , Walsh MC , eds. Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. Philadelphia, PA: Elsevier Saunders; 2015:1364\u20131370."},{"key":"2019091816390336000_38.4.217.28","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.01.012"},{"issue":"5","key":"2019091816390336000_38.4.217.29","first-page":"519","article-title":"Congenital central hypoventilation syndrome with Hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant","volume":"54","year":"2012","journal-title":"Turk J Pediatr"},{"key":"2019091816390336000_38.4.217.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2010.10.001"},{"issue":"3","key":"2019091816390336000_38.4.217.31","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s40556-016-0084-0","article-title":"Amniocentesis","volume":"3","year":"2016","journal-title":"J Fetal Med"},{"key":"2019091816390336000_38.4.217.32","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35499"},{"key":"2019091816390336000_38.4.217.33","unstructured":"Rush University Medical Center, Section of Genetics. Congenital central hypoventilation syndrome (CCHS). 2013. http:\/\/rml.rush.edu\/PublishingImages\/PHOX2B_Screening_Test_RUMC03192013pdf.pdf. Accessed April 13, 2018."},{"key":"2019091816390336000_38.4.217.34","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.21527"},{"key":"2019091816390336000_38.4.217.35","unstructured":"Ambry Genetics. Congenital central hypoventilation syndrome (CCHS) genetic testing\u2014clinician. 2018. https:\/\/www.ambrygen.com\/clinician\/genetic-testing\/101\/exome-and-general-genetics\/congenital-central-hypoventilation-syndrome-cchs. Accessed September 28, 2018."},{"key":"2019091816390336000_38.4.217.36","unstructured":"Ann & Robert H . Lurie Children's Hospital of Chicago Center for Autonomic Medicine in Pediatrics & Molecular Diagnostic Laboratory. PHOX2B gene test. 2018. https:\/\/www.luriechildrens.org\/contentassets\/330a546b6984485d9608463c244473fc\/phox2b-requisition.pdf. Accessed April 16, 2018."},{"key":"2019091816390336000_38.4.217.37","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22848"},{"key":"2019091816390336000_38.4.217.38","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2013.89"},{"key":"2019091816390336000_38.4.217.39","unstructured":"U.S. National Library of Medicine. Congenital central hypoventilation syndrome. Updated 2018. https:\/\/ghr.nlm.nih.gov\/condition\/congenital-central-hypoventilation-syndrome. Accessed October 2, 2018."},{"key":"2019091816390336000_38.4.217.40","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoto.2016.1107"},{"key":"2019091816390336000_38.4.217.41","doi-asserted-by":"publisher","DOI":"10.2147\/PHMT.S95054"},{"key":"2019091816390336000_38.4.217.42","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20744"},{"key":"2019091816390336000_38.4.217.43","doi-asserted-by":"publisher","DOI":"10.1097\/01.JAA.0000481397.68475.41"},{"key":"2019091816390336000_38.4.217.44","doi-asserted-by":"publisher","DOI":"10.1097\/MCO.0000000000000300"},{"key":"2019091816390336000_38.4.217.45","unstructured":"Weese-Mayer DE , Marazita ML , Rand CM , Berry-Kravis EM . Congenital central hypoventilation syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al, eds. GeneReviews. Seattle: University of Washington; 2014. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1427\/. Accessed October 2, 2018."},{"key":"2019091816390336000_38.4.217.46","doi-asserted-by":"publisher","DOI":"10.1378\/chest.15-0402"},{"key":"2019091816390336000_38.4.217.47","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23097"},{"key":"2019091816390336000_38.4.217.48","unstructured":"National Organization for Rare Disorders. Congenital central hypoventilation syndrome. Updated 2016. https:\/\/rarediseases.org\/rare-diseases\/congenital-central-hypoventilation-syndrome\/. Accessed October 2, 2018."}],"container-title":["Neonatal Network"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1891\/0730-0832.38.4.217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T19:39:33Z","timestamp":1568835573000},"score":1,"resource":{"primary":{"URL":"http:\/\/connect.springerpub.com\/lookup\/doi\/10.1891\/0730-0832.38.4.217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,1]]},"references-count":48,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,7,8]]},"published-print":{"date-parts":[[2019,7,1]]}},"alternative-id":["10.1891\/0730-0832.38.4.217"],"URL":"https:\/\/doi.org\/10.1891\/0730-0832.38.4.217","relation":{},"ISSN":["0730-0832","1539-2880"],"issn-type":[{"type":"print","value":"0730-0832"},{"type":"electronic","value":"1539-2880"}],"subject":[],"published":{"date-parts":[[2019,7,1]]}}}