{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T16:20:07Z","timestamp":1775665207616,"version":"3.50.1"},"reference-count":21,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T00:00:00Z","timestamp":1699488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001594","name":"Familial Dysautonomia Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001594","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Background<\/jats:title>\n<jats:p>Children with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the disease-causing homozygous <jats:italic>ELP-1<\/jats:italic> mutations. Here, we created growth curves for weight, height, and body mass index (BMI) in male and female children with FD to monitor the nutritional status of patients with FD.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Methods<\/jats:title>\n<jats:p>We used the New York University (NYU) FD Registry which includes data from 680 individuals with FD who were followed longitudinally since birth. We generated sex-specific FD growth charts for three age ranges (birth to 36 months, 2 to 20 years, and 2 to 40 years) and compared them to the general population. We generated Kaplan-Meier curves to test the hypothesis that FD patients with low BMI had shorter survival than the rest of the cohort.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Results<\/jats:title>\n<jats:p>Growth charts generated from 591 individuals with FD show that these patients grow more slowly, reach less height, and gain less weight than the general population. The impact of FD on height was more pronounced in girls than in boys. However, both groups showed markedly low weights, which resulted in low BMI. Low weight, but not height, is already evident at birth. In a subpopulation of FD patients, we found that treatment with growth hormone or spinal fusion surgery helped patients achieve the expected growth characteristic of FD patients, but these treatments did not lead FD patients to achieve the growth pattern of the general population. Contrary to our hypothesis, low BMI had no impact on patient survival.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Conclusions<\/jats:title>\n<jats:p>Pediatric patients with FD have lower height, weight, and BMI compared to the general pediatric population, but this does not appear to affect survival. Growth curves specific to the FD population are an important tool to monitor growth and nutritional status in pediatric patients with FD when the general population growth curves are of limited use.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0293800","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T18:23:19Z","timestamp":1699554199000},"page":"e0293800","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":3,"title":["Height, weight, and body mass index in patients with familial dysautonomia"],"prefix":"10.1371","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1860-5572","authenticated-orcid":true,"given":"Maria L.","family":"Cotrina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barr","family":"Morgenstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Perez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Norcliffe-Kaufmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1345-6774","authenticated-orcid":true,"given":"Jose-Alberto","family":"Palma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Horacio","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2023,11,9]]},"reference":[{"key":"pone.0293800.ref001","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1542\/peds.3.4.468","article-title":"Central autonomic dysfunction with defective lacrimation; report of five cases","volume":"3","author":"CM Riley","year":"1949","journal-title":"Pediatrics"},{"key":"pone.0293800.ref002","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1086\/318810","article-title":"Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia","volume":"68","author":"SA Slaugenhaupt","year":"2001","journal-title":"Am J Hum Genet"},{"key":"pone.0293800.ref003","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.pneurobio.2016.06.003","article-title":"Familial dysautonomia: History, genotype, phenotype and translational research","volume":"152","author":"L Norcliffe-Kaufmann","year":"2017","journal-title":"Prog Neurobiol"},{"key":"pone.0293800.ref004","first-page":"1","article-title":"Sudden Unexpected Death during sleep in Familial Dysautonomia: A Case-Control Study","volume":"40","author":"JA Palma","journal-title":"SLEEP"},{"key":"pone.0293800.ref005","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10286-020-00735-9","article-title":"Frequency and burden of gastrointestinal symptoms in familial dysautonomia","volume":"31","author":"C Ramprasad","year":"2021","journal-title":"Clin Auton Res"},{"key":"pone.0293800.ref006","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/mus.10499","article-title":"Familial dysautonomia","volume":"29","author":"FB Axelrod","year":"2004","journal-title":"Muscle Nerve"},{"key":"pone.0293800.ref007","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1148\/90.1.107","article-title":"Familial dysautonomia. A cineradiographic study of the swallowing mechanism","volume":"90","author":"SI Margulies","year":"1968","journal-title":"Radiology"},{"key":"pone.0293800.ref008","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s10286-017-0487-6","article-title":"Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia","volume":"28","author":"JA Palma","year":"2018","journal-title":"Clin Auton Res"},{"key":"pone.0293800.ref009","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1097\/00000658-198203000-00002","article-title":"Gastroesophageal fundoplication and gastrostomy in familial dysautonomia","volume":"195","author":"FB Axelrod","year":"1982","journal-title":"Ann Surg"},{"key":"pone.0293800.ref010","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.jpeds.2003.10.065","article-title":"Growth hormone treatment in children with familial dysautonomia","volume":"144","author":"MK Kamboj","year":"2004","journal-title":"J Pediatr"},{"key":"pone.0293800.ref011","doi-asserted-by":"crossref","first-page":"e27015","DOI":"10.1371\/journal.pone.0027015","article-title":"Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality","volume":"6","author":"P Dietrich","year":"2011","journal-title":"PLoS One"},{"key":"pone.0293800.ref012","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1080\/01621459.1979.10481038","article-title":"Robust Locally Weighted Regression and Smoothing Scatterplots","volume":"74","author":"WS Cleveland","year":"1979","journal-title":"Journal of the American Statistical Association"},{"key":"pone.0293800.ref013","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jclinepi.2021.08.033","article-title":"Meta-analysis for individual participant data with a continuous exposure: A case study","volume":"140","author":"D Darssan","year":"2021","journal-title":"J Clin Epidemiol"},{"key":"pone.0293800.ref014","unstructured":"CDC Growth Charts\u2014Percentile Data Files with LMS Values. In: https:\/\/www.cdc.gov\/growthcharts\/clinical_charts.htm"},{"key":"pone.0293800.ref015","doi-asserted-by":"crossref","first-page":"18698","DOI":"10.1073\/pnas.1308596110","article-title":"Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons","volume":"110","author":"L George","year":"2013","journal-title":"Proc Natl Acad Sci U S A"},{"key":"pone.0293800.ref016","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1242\/dev.107797","article-title":"A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation","volume":"141","author":"MZ Jackson","year":"2014","journal-title":"Development"},{"key":"pone.0293800.ref017","doi-asserted-by":"crossref","first-page":"5078","DOI":"10.1093\/hmg\/dds354","article-title":"IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia","author":"P Dietrich","year":"2012","journal-title":"Hum Mol Genet"},{"key":"pone.0293800.ref018","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1186\/1471-2458-14-371","article-title":"Mortality risk associated with underweight: a census-linked cohort of 31,568 individuals with up to 32 years of follow-up","volume":"14","author":"L Roh","year":"2014","journal-title":"BMC Public Health"},{"key":"pone.0293800.ref019","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/S2213-8587(18)30288-2","article-title":"Association of BMI with overall and cause-specific mortality: a population-based cohort study of 3.6 million adults in the UK","volume":"6","author":"K Bhaskaran","year":"2018","journal-title":"Lancet Diabetes Endocrinol"},{"key":"pone.0293800.ref020","article-title":"Effect of nutrition on neurodegenerative diseases. A systematic review","author":"VE Bianchi","year":"2019","journal-title":"Nutritional Neuroscience"},{"key":"pone.0293800.ref021","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1136\/thorax.56.10.746","article-title":"Wasting as an independent predictor of mortality in patients with cystic fibrosis","volume":"56","author":"R Sharma","year":"2001","journal-title":"Thorax"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0293800","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T18:23:33Z","timestamp":1699554213000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0293800"}},"subtitle":[],"editor":[{"given":"Engy Asem","family":"Ashaat","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2023,11,9]]},"references-count":21,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2023,11,9]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0293800","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,9]]}}}