{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T20:17:47Z","timestamp":1780345067711,"version":"3.54.1"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:00:00Z","timestamp":1705449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001545","name":"Children's Tumor Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001545","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder that can cause an individual significant chronic pain (CP). CP affects quality of life and daily functioning, yet there are limited effective treatments for CP within NF1. The current study describes the impact of CP using the Neurofibromatosis Pain Module (NFPM). The NFPM is a self\u2010reported clinical assessment that evaluates the impact of CP across multiple domains (e.g., interference, severity, tolerance, and symptomology) and three prioritized pain regions. A cross\u2010sectional study (<jats:italic>N<\/jats:italic>\u2009=\u2009242) asked adults with NF1 to describe and rate their pain using the NFPM. The results indicated that they reported moderate pain severity (<jats:italic>M<\/jats:italic>\u2009=\u20096.6, SD\u2009=\u20092.0) on a 0\u201310 scale, that 54% (<jats:italic>n<\/jats:italic>\u2009=\u2009131) had been in pain at least 24\u2009days in the last 30, for 75% (<jats:italic>n<\/jats:italic>\u2009=\u2009181) sleep was affected, and 16% reported that nothing was effective in reducing their CP for their primary pain region. The current results extend previously published work on CP within adults with NF1 and indicate that more emphasis on understanding and ameliorating CP is required. The NFPM is a sensitive clinical measure that provides qualitative and quantitative responses to inform medical providers about changes in CP.<\/jats:p>","DOI":"10.1002\/ajmg.a.63541","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T07:24:30Z","timestamp":1705562670000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Understanding chronic pain in <scp>Neurofibromatosis Type 1<\/scp> using the <scp>Neurofibromatosis Pain Module<\/scp> (<scp>NFPM<\/scp>)"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1324-7857","authenticated-orcid":false,"given":"Frank D.","family":"Buono","sequence":"first","affiliation":[{"name":"Yale School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaitlyn","family":"Larkin","sequence":"additional","affiliation":[{"name":"Northern Illinois University  DeKalb Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William T.","family":"Zempsky","sequence":"additional","affiliation":[{"name":"Connecticut Children's Medical Center  Hartford Connecticut USA"},{"name":"University of Connecticut School of Medicine  Farmington Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauretta E.","family":"Grau","sequence":"additional","affiliation":[{"name":"Yale School of Public Health  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Staci","family":"Martin","sequence":"additional","affiliation":[{"name":"National Cancer Institute  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,1,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/papr.12695"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/b978-0-444-62702-5.00004-4"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/j.pain.0000000000001486"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3959(90)91158-F"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.2147\/JPR.S209540"},{"key":"e_1_2_10_7_1","unstructured":"Burns K. M. Wolters P. L. Martin S. Baldwin A. Dombi E. Kurwa A. Gillespie A. Salzer W. &Wildemann B.(2011).Parent and self reports of pain in children and adolescents with NF1 and plexiform neurofibromas: Relation to quality of life social\u2010emotional functioning and physical manifestations. National Conference in Pediatric Psychology San Antonio TX."},{"issue":"2","key":"e_1_2_10_8_1","first-page":"129","article-title":"Pain assessment: Global use of the brief pain inventory","volume":"23","author":"Cleeland C.","year":"1994","journal-title":"Annals of Academic Medicine"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12551"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(21)00393-7"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/1359105320944987"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.3.473"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-021-03826-3"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61627"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpain.2010.10.011"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/occmed\/kqz134"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1037\/0033-2909.133.4.581"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337548"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.4"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajem.2018.01.008"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61069"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1497.2001.016009606.x"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01170-5"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcna.2019.07.004"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-016-0036-9"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.166.10.1092"},{"key":"e_1_2_10_27_1","unstructured":"Struemph K. Wolters P. Martin S. Tonsgard J. MacKenzie C. Schorry E. Manning S. Walsh K. S. Kennedy T. &Widemann B.(2017).Development of patient\u2010reported outcomes (PROs) to assess pain in individuals with Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (PNs) for clinical trial endpoints: Results from adult participants. Children's Tumor Foundation Washington D.C."},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37123"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000002927"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63541","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T19:01:32Z","timestamp":1714503692000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63541"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,17]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/ajmg.a.63541"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63541","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,17]]},"assertion":[{"value":"2023-09-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63541"}}