{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:42:11Z","timestamp":1790487731348,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,16]],"date-time":"2003-06-16T00:00:00Z","timestamp":1055721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Individuals with Prader\u2013Willi syndrome (PWS) generally survive into adulthood. Common causes of death are obesity related cor pulmonale and respiratory failure. We report on a case series of eight children and two adults with unexpected death or critical illness. Our data show age\u2010specific characteristics of PWS patients with fatal or life\u2010threatening illnesses. Under the age of 2 years, childhood illnesses in general were associated with high fever and rapid demise or near\u2010demise. Hypothalamic dysfunction likely plays a role in exaggerated fever response, but also perhaps in central regulation of adrenal function. Below average sized adrenal glands were found in three children, which raises the possibility of unrecognized adrenal insufficiency in a subset of individuals with PWS and emphasizes the vital role of autopsy. The tub drowning death of an adult patient could be related to central hypersomnia, which has been reported in PWS. We suggest that increased risk for critical illness be considered in the discussion of anticipatory guidance for the care of infants with PWS. Since a number of children died while hospitalized, particularly close observation of PWS children who are ill enough to warrant hospital admission is recommended. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20370","type":"journal-article","created":{"date-parts":[[2003,12,25]],"date-time":"2003-12-25T09:00:29Z","timestamp":1072342829000},"page":"158-164","source":"Crossref","is-referenced-by-count":98,"title":["Unexpected death and critical illness in Prader\u2013Willi syndrome: Report of ten individuals"],"prefix":"10.1002","volume":"124A","author":[{"given":"David A.","family":"Stevenson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa M.","family":"Anaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan D.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot I.","family":"Van Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto T.","family":"Zori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Frank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol L.","family":"Clericuzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,6,16]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"S282","article-title":"Dilated cardiomyopathy in two infants with Prader\u2013Willi syndrome and cytogenetically visible microdeletion of 15q11\u2010q14 [abstract]","volume":"69","author":"Ahmad MU","year":"2001","journal-title":"AJHG"},{"key":"e_1_2_6_3_1","first-page":"1085","article-title":"Diagnostic testing for Prader\u2013Willi and Angelman syndromes: Report of the ASHG\/ACMG test and technology transfer committee","volume":"58","author":"American Society of Human Genetics\/American College of Medical Genetics Test and Technology Transfer Committee","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1152\/jappl.1994.77.5.2224","article-title":"Hypoxic and hypercapnic ventilatory responses in Prader\u2013Willi syndrome","volume":"77","author":"Arens R","year":"1994","journal-title":"J Appl Physiol"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.153.1.8542130"},{"key":"e_1_2_6_6_1","first-page":"1251","article-title":"Physical features of Prader\u2013Willi syndrome in neonates","volume":"144","author":"Aughton DJ","year":"1990","journal-title":"AJDC"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198303000-00001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350306"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70418-X"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(18)30827-2"},{"key":"e_1_2_6_11_1","first-page":"204","article-title":"Infant death and critical illness in Prader\u2013Willi syndrome","volume":"16","author":"Clericuzio CL","year":"1997","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1993.tb12878.x"},{"key":"e_1_2_6_13_1","first-page":"443","volume-title":"Sleep and breathing in children: A developmental approach","author":"Fleming PJ","year":"2000"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01377358"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1994.77.5.2231"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80297-X"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80281-6"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/16.4.366"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.91.2.398"},{"key":"e_1_2_6_20_1","first-page":"465","volume-title":"Sleep and breathing in children: A developmental approach","author":"Kemp JS","year":"2000"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000066263"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.56.3.181"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198102053040604"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051246"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380101600220"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9993(94)90143-0"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1997.tb18371.x"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.10152"},{"key":"e_1_2_6_29_1","first-page":"6","article-title":"Prader\u2013Willi syndrome and central nervous system calcifications: Chance or fundamentally related findings?","volume":"11","author":"Reske\u2010Nielsen E","year":"1992","journal-title":"Clin Neuropathol"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.44.234.244"},{"key":"e_1_2_6_31_1","first-page":"231","article-title":"Sudden death in children with Prader\u2013Willy syndrome: A call for collaboration [letter]","volume":"9","author":"Schrander\u2010Stumpel C","year":"1998","journal-title":"Genet Couns"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj1954.37.165"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.98.11051150"},{"key":"e_1_2_6_34_1","first-page":"1449","volume-title":"Pediatric pathology","author":"Stoker JT","year":"2001"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490312"},{"key":"e_1_2_6_36_1","first-page":"588","article-title":"Syndrome of hypotonia\u2010hypomentia\u2010hypogonadism\u2010obesity (HHHO) or Prader\u2013Willi syndrome","volume":"115","author":"Zellweger H","year":"1968","journal-title":"Amer J Dis Child"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20370","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:52:01Z","timestamp":1697673121000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,16]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,1,15]]}},"alternative-id":["10.1002\/ajmg.a.20370"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20370","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,16]]}}}