{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T13:27:15Z","timestamp":1778678835467,"version":"3.51.4"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T00:00:00Z","timestamp":1612828800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T00:00:00Z","timestamp":1612828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Res"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1038\/s41390-020-01309-1","type":"journal-article","created":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T19:51:57Z","timestamp":1612900317000},"page":"1044-1051","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Benign paroxysmal torticollis: phenotype, natural history, and quality of life"],"prefix":"10.1038","volume":"90","author":[{"given":"Kaitlin A.","family":"Greene","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivien","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta San","family":"Luciano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Qubty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha L.","family":"Irwin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Grimes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy A.","family":"Gelfand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,2,9]]},"reference":[{"key":"1309_CR1","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1016\/j.pediatrneurol.2014.07.018","volume":"51","author":"S Tarantino","year":"2014","unstructured":"Tarantino, S. et al. Migraine equivalents as part of migraine syndrome in childhood. Pediatr. Neurol. 51, 645\u2013649 (2014).","journal-title":"Pediatr. Neurol."},{"key":"1309_CR2","doi-asserted-by":"publisher","unstructured":"Hadjipanayis, A., Efstathiou, E. & Neubauer, D. Benign paroxysmal torticollis of infancy: an underdiagnosed condition. J. Paediatr. Child Health https:\/\/doi.org\/10.1111\/jpc.12841 (2015).","DOI":"10.1111\/jpc.12841"},{"key":"1309_CR3","doi-asserted-by":"crossref","unstructured":"Headache Classification Committee of the International Headache Society (IHS). The International Classification of Headache Disorders, 3rd edition. Cephalalgia 38, 1\u2013211 (2018).","DOI":"10.1177\/0333102417738202"},{"key":"1309_CR4","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/S0887-8994(98)00044-7","volume":"19","author":"S Kimura","year":"1998","unstructured":"Kimura, S. & Nezu, A. Electromyographic study in an infant with benign paroxysmal torticollis. Pediatr. Neurol. 19, 236\u2013238 (1998).","journal-title":"Pediatr. Neurol."},{"key":"1309_CR5","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1177\/0883073808322338","volume":"24","author":"NP Rosman","year":"2009","unstructured":"Rosman, N. P., Douglass, L. M., Sharif, U. M. & Paolini, J. The neurology of benign paroxysmal torticollis of infancy: report of 10 new cases and review of the literature. J. Child Neurol. 24, 155\u2013160 (2009).","journal-title":"J. Child Neurol."},{"key":"1309_CR6","doi-asserted-by":"publisher","unstructured":"Yaghini, O., Badihian, N. & Badihian, S. The efficacy of topiramate in benign paroxysmal torticollis of infancy: report of four cases. Pediatrics https:\/\/doi.org\/10.1542\/peds.2015-0868 (2016).","DOI":"10.1542\/peds.2015-0868"},{"key":"1309_CR7","doi-asserted-by":"publisher","unstructured":"Danielsson, A. et al. Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. Dev. Med. Child Neurol. https:\/\/doi.org\/10.1111\/dmcn.13939 (2018).","DOI":"10.1111\/dmcn.13939"},{"key":"1309_CR8","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1136\/adc.56.12.956","volume":"56","author":"T Deonna","year":"1981","unstructured":"Deonna, T. & Martin, D. Benign paroxysmal torticollis in infancy. Arch. Dis. Child. 56, 956\u2013959, https:\/\/doi.org\/10.1136\/adc.56.12.956 (1981).","journal-title":"Arch. Dis. Child."},{"key":"1309_CR9","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1111\/j.1469-8749.2002.tb00311.x","volume":"44","author":"NJ Giffin","year":"2002","unstructured":"Giffin, N. J., Benton, S. & Goadsby, P. J. Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev. Med. Child Neurol. 44, 490\u2013493 (2002).","journal-title":"Dev. Med. Child Neurol."},{"key":"1309_CR10","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1111\/j.1468-2982.2008.01645.x","volume":"28","author":"E Cuenca-Leon","year":"2008","unstructured":"Cuenca-Leon, E. et al. Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. Cephalalgia 28, 1039\u20131047 (2008).","journal-title":"Cephalalgia"},{"key":"1309_CR11","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1016\/j.ejpn.2013.12.011","volume":"18","author":"M Vila-Pueyo","year":"2014","unstructured":"Vila-Pueyo, M. et al. A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. Eur. J. Paediatr. Neurol. 18, 430\u2013433 (2014).","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"1309_CR12","doi-asserted-by":"publisher","unstructured":"Humbertclaude, V. et al. Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders. Dev. Med. Child Neurol. https:\/\/doi.org\/10.1111\/dmcn.13935 (2018).","DOI":"10.1111\/dmcn.13935"},{"key":"1309_CR13","doi-asserted-by":"publisher","first-page":"1600","DOI":"10.1007\/s00415-008-0982-8","volume":"255","author":"A Roubertie","year":"2008","unstructured":"Roubertie, A. et al. Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J. Neurol. 255, 1600\u20131602 (2008).","journal-title":"J. Neurol."},{"key":"1309_CR14","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1111\/j.1469-8749.2012.04394.x","volume":"54","author":"RC Dale","year":"2012","unstructured":"Dale, R. C., Gardiner, A., Antony, J. & Houlden, H. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev. Med. Child Neurol. 54, 958\u2013960 (2012).","journal-title":"Dev. Med. Child Neurol."},{"key":"1309_CR15","doi-asserted-by":"publisher","unstructured":"Moavero, R. et al. Cyclic vomiting syndrome and benign paroxysmal torticollis are associated with a high risk of developing primary headache: a longitudinal study. Cephalalgia https:\/\/doi.org\/10.1177\/0333102419844542 (2019).","DOI":"10.1177\/0333102419844542"},{"key":"1309_CR16","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","volume":"42","author":"PA Harris","year":"2009","unstructured":"Harris, P. A. et al. Research electronic data capture (REDCap)\u2013a metadata-driven methodology and workflow process for providing translational research informatics support. J. Biomed. Inf. 42, 377\u2013381 (2009).","journal-title":"J. Biomed. Inf."},{"key":"1309_CR17","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1111\/head.13327","volume":"58","author":"DW Dodick","year":"2018","unstructured":"Dodick, D. W. et al. Use of most bothersome symptom as a coprimary endpoint in migraine clinical trials: a post-hoc analysis of the pivotal ZOTRIP randomized, controlled trial. Headache 58, 986\u2013992 (2018).","journal-title":"Headache"},{"key":"1309_CR18","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1007\/s11136-012-0177-8","volume":"22","author":"JM Landgraf","year":"2013","unstructured":"Landgraf, J. M., Vogel, I., Oostenbrink, R., van Baar, M. E. & Raat, H. Parent-reported health outcomes in infants\/toddlers: measurement properties and clinical validity of the ITQOL-SF47. Qual. Life Res. 22, 635\u2013646 (2013).","journal-title":"Qual. Life Res."},{"key":"1309_CR19","unstructured":"HealthActCHQ Inc. Confidential Scoring Rules Infant and Toddler Quality of Life Questionnaire \u2013 47 (ITQOL-SF47) (HealthActCHQ, Boston, MA, 2015)."},{"key":"1309_CR20","unstructured":"HealthActCHQ Inc. ITQOL-SF47 US Norms (HealthActCHQ, Boston, MA, 2017)."},{"key":"1309_CR21","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1177\/0333102409355601","volume":"30","author":"TW Victor","year":"2010","unstructured":"Victor, T. W., Hu, X., Campbell, J. C., Buse, D. C. & Lipton, R. B. Migraine prevalence by age and sex in the United States: a life-span study. Cephalalgia 30, 1065\u20131072 (2010).","journal-title":"Cephalalgia"},{"key":"1309_CR22","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1542\/peds.108.4.878","volume":"108","author":"JA Castro-Rodriguez","year":"2001","unstructured":"Castro-Rodriguez, J. A. et al. Relation between infantile colic and asthma\/atopy: a prospective study in an unselected population. Pediatrics 108, 878\u2013882 (2001).","journal-title":"Pediatrics"},{"key":"1309_CR23","doi-asserted-by":"publisher","first-page":"1392","DOI":"10.1212\/WNL.0b013e31826c1b7b","volume":"79","author":"AA Gelfand","year":"2012","unstructured":"Gelfand, A. A., Thomas, K. C. & Goadsby, P. J. Before the headache: infant colic as an early life expression of migraine. Neurology 79, 1392\u20131396 (2012).","journal-title":"Neurology"},{"key":"1309_CR24","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1136\/adc.84.5.398","volume":"84","author":"PL Lucassen","year":"2001","unstructured":"Lucassen, P. L. et al. Systematic review of the occurrence of infantile colic in the community. Arch. Dis. Child. 84, 398\u2013403 (2001).","journal-title":"Arch. Dis. Child."},{"key":"1309_CR25","doi-asserted-by":"publisher","unstructured":"Sargent, B., Kaplan, S. L., Coulter, C. & Baker, C. Congenital muscular torticollis: bridging the gap between research and clinical practice. Pediatrics https:\/\/doi.org\/10.1542\/peds.2019-0582 (2019).","DOI":"10.1542\/peds.2019-0582"}],"container-title":["Pediatric Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41390-020-01309-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41390-020-01309-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41390-020-01309-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T19:02:52Z","timestamp":1638903772000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41390-020-01309-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,9]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["1309"],"URL":"https:\/\/doi.org\/10.1038\/s41390-020-01309-1","relation":{},"ISSN":["0031-3998","1530-0447"],"issn-type":[{"value":"0031-3998","type":"print"},{"value":"1530-0447","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,9]]},"assertion":[{"value":"14 July 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 November 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 November 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 February 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"M.S.L. has received consulting fees from Boston Scientific in 2019; receives grant support from NIH (NINDS, K23NS0099441-O1A), and receives personal compensation for medico-legal consulting. A.A.G. has received consulting fees from Theranica, Advanced Clinical, Biohaven, Impel Neuropharma, and Satsuma; has received honoraria from <i>UpToDate<\/i> (for authorship) and <i>JAMA Neurology<\/i> (as an associate editor); receives grant support from Amgen and the Duke Clinical Research Institute; has received personal compensation for medical\u2013legal consulting (last in Jan 2019); her spouse reports research support (to UCSF) from Genentech for a clinical trial, honoraria for editorial work from Dynamed Plus, and personal compensation for medical\u2013legal consulting. S.L.I. receives honoraria for authoring a chapter for the Canadian Pharmacy Association (CPhA) and research support from the Duke Clinical Research Institute. The remaining authors (K.A.G., V.L., W.Q., B.G.) have nothing to disclose.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"All subjects provided written informed consent. Children aged 7\u201317 years provided assent, and those who had reached the age of 18 years provided consent for their parent\/caregiver to be interviewed about their history of BPT. Families provided consent for use of photographs\/videos for publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}