{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:19:08Z","timestamp":1788135548150,"version":"build-2803163510"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":75,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100014177","name":"Rosenau Family Research Foundation","doi-asserted-by":"crossref","award":["Rosenau Family Research Foundation"],"award-info":[{"award-number":["Rosenau Family Research Foundation"]}],"id":[{"id":"10.13039\/100014177","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>In 2024, the U.S. Department of Health and Human Services added infantile Krabbe disease to the Recommended Uniform Screening Panel for Newborn Screening (NBS). Families have previously expressed wanting their established general outpatient pediatrics clinicians involved in sharing NBS results. In this study, we aimed to understand pediatrics clinicians\u2019 perspectives on barriers, facilitators, and ideas for interventions regarding their involvement in sharing positive NBS results for Krabbe disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted individual semi-structured interviews with clinicians (physicians and advanced practice providers) in general outpatient pediatrics in Western Pennsylvania. Interviews were audio-recorded and transcribed. Two coders performed content analysis, coding transcripts, and identifying themes with representative quotations. Themes were mapped to the Consolidated Framework for Implementation Research.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Twenty-five clinicians participated. Barriers, facilitators, and ideas for interventions spanned the individual level, inner setting, and outer setting of the Consolidated Framework for Implementation Research. Barriers included: limited clinician knowledge of Krabbe disease, time in the clinical schedule, and accessibility of specialists. Facilitators included: prior clinical training in communicating serious diagnoses, protected time for Continuing Medical Education activities, and trustworthy online medical resources. Ideas for interventions included: fact sheets\/scripts\/algorithms for clinicians; integration of clinician education with NBS result notifications; and improvements in care coordination with specialists.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>While primary care pediatrics noted lack of time, knowledge, and access to specialists as barriers to sharing Krabbe disease newborn screening with families, they highlighted that communication tools\/tips, easy training or access to disease information, and assistance coordinating specialty care would facilitate their involvement.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04459-3","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T12:34:06Z","timestamp":1781699646000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventions"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8259-5997","authenticated-orcid":false,"given":"Laura","family":"Kirkpatrick","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Friel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gysella","family":"Muniz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy C.","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepa S.","family":"Rajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,17]]},"reference":[{"key":"4459_CR1","doi-asserted-by":"publisher","first-page":"135841","DOI":"10.1016\/j.neulet.2021.135841","volume":"752","author":"AM Bradbury","year":"2021","unstructured":"Bradbury AM, Bongarzone ER, Sands MS. Krabbe disease: new hope for an old disease. Neurosci Lett. 2021;752:135841.","journal-title":"Neurosci Lett"},{"key":"4459_CR2","doi-asserted-by":"publisher","first-page":"57","DOI":"10.3390\/ijns7030057","volume":"7","author":"DA Wenger","year":"2021","unstructured":"Wenger DA, Luzi P, Rafi MA. Advances in the diagnosis and treatment of Krabbe disease. Int J Neonatal Screen. 2021;7:57.","journal-title":"Int J Neonatal Screen"},{"key":"4459_CR3","doi-asserted-by":"publisher","first-page":"105","DOI":"10.2147\/ITT.S424622","volume":"12","author":"AA Maghazachi","year":"2023","unstructured":"Maghazachi AA. Globoid cell leukodystrophy (Krabbe disease): an update. Immunotargets Ther. 2023;12:105\u201311.","journal-title":"Immunotargets Ther"},{"key":"4459_CR4","unstructured":"Newborn screening for Krabbe Disease in Pennsylvania. KrabbeConnect. Last updated July 31. 2023. Available from: https:\/\/krabbeconnect.org\/states\/pa\/. 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All participants provided infomred consent to participate.","order":1,"name":"Ethics","label":"Ethical approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The institution of Laura Kirkpatrick received funding support from the Child Neurologist Career Development Program K12 Award (through the National Institute of Neurological Disorders and Stroke), the Child Neurology Foundation, the Society of Family Planning, and the Rosenau Family Research Foundation. The institution of Deepa Rajan received funding support from the National Scleroderma Foundation, the Rosenau Family Research Foundation, and the National Institutes of Health. Deepa Rajan has served as the site principal investigator for studies from Denali Therapeutics, Takeda Pharmaceutical Company, Prevail Therapeutics, Ultragenyx Pharmaceutical and RegenBio. She is part of the ad hoc advisory board for Sanofi and Takeda Pharmaceutical Company. She is part of the scientific advisory board for the National MPS Society, Krabbe Connect, and Gemin5.org. She is an associate editor for Medlink Neurology. The other authors have no disclosures to report.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"306"}}