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Studies of neurodevelopmental outcomes in HI report prevalence ranging from less than one-quarter to about half of all people with HI. These studies largely focus on formal clinical assessments, but the real-world experiences of individuals with HI and their families are rarely published. The aim of this study was to describe the neurodevelopmental outcomes of a heterogenous cohort of individuals with HI directly from the perspective of the person with HI or their family, as shared through the HI Global Registry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      193 participants with HI from 34 countries were included in this analysis. Mean age at follow-up was 12.52 years (SD\u2009=\u200912.60). 66% of all participants, and 72% of participants aged\u2009\u2265\u20095 years at follow-up (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009145), reported an adverse neurodevelopmental outcome. Of those aged\u2009\u2265\u20095 years at follow-up, 50% reported a diagnosed neurological, neurodevelopmental, or sensory disorder, 57% reported a history of developmental delay, and 18% reported a diagnosed mental health condition. Amongst participants\u2009\u2265\u20095 years of age with an adverse neurodevelopmental outcome, approximately half were capable of performing at peer level in domains of daily life. Participants added richness to the categorical data by providing free-text responses describing the problems faced in day-to-day life, with reported challenges in social, emotional, and behavioral issues.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This is the first study of neurodevelopmental outcomes in people with HI to focus on real-world data reported directly from people with HI and their families. Neurodevelopmental challenges were highly prevalent in people with HI and extended beyond formal clinical diagnoses into social, emotional, and behavioral problems. Proactive developmental assessments should be offered to all children with HI, and efforts should be made to develop multidisciplinary teams to support all medical and developmental aspects of care for people with HI. The real-world data on neurodevelopmental outcomes and experiences of individuals with HI and their families generated in this study will serve as a benchmark and help to quantify how future advances in diagnosis and treatment impact patient-centered neurodevelopmental outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04471-7","type":"journal-article","created":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T05:44:01Z","timestamp":1783057441000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3012-5771","authenticated-orcid":false,"given":"Lauren N.","family":"Lopez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Indraneel","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diva D.","family":"De Leon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tai L. 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PubMed PMID: 37978865; PubMed Central PMCID: PMC10843937.","journal-title":"Eur J Public Health"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04471-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04471-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04471-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:03:03Z","timestamp":1790251383000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-026-04471-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,3]]},"references-count":39,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4471"],"URL":"https:\/\/doi.org\/10.1186\/s13023-026-04471-7","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,3]]},"assertion":[{"value":"23 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The HI Global Registry is a research study that is reviewed under the North Star Institutional Review Board (NB100012) to ensure that all study activities comply with legal and ethical standards.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All study participants provided informed consent to participate in research when they joined the HI Global Registry.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"LNL, KER, JR, and TLSP were employees of Congenital Hyperinsulinism International (CHI) at the time of study. Over the past 3 years, CHI has received sponsorships for events and research and support programs from Amidebio, Dexcom Inc., Hanmi Pharmaceuticals, Rezolute, Rhythm Pharmaceuticals, and Zealand Pharma. None of these authors received any fees directly from these companies. CHI staff and the board of directors retain all control of the programmatic aspects of these programs. In last 2 years, IB received grant funding from NIHR, University of Manchester, Manchester BRC, Zealand Pharma, Crinetics Pharma, Hanmi Pharmaceuticals and Rezolute, and received speaker fees from Neurocrine and Merck. IB has held the following positions of interest: Chair of Communications Committee, European Society for Paediatric Endocrinology; Treasurer, Manchester Medical Society; Co-chair Research Oversight Group, Children\u2019s Hospital Alliance; Co-director Manchester Child Health Research Institute; Associate Editor, Frontiers in Endocrinology; Member of HI Global Registry Steering Committee; Medical advisor for Congenital Hyperinsulinism Charity, Pituitary Foundation, and Living with CAH. DDDL has received consulting fees from Zealand Pharma A\/S, Rezolute, Rhythm Pharmaceuticals, Confo Therapeutics, AmideBio, Spruce Biosciences, Ligand Pharmaceuticals, Twist Biosciences, and Fortress Biotech. DDDL has received research funding from Hanmi Pharmaceuticals, Twist Biosciences, Zealand Pharma A\/S, Rezolute, Ultragenyx, Rhythm Pharmaceuticals, and Moderna, for studies not related to this manuscript. MR and ER have nothing to disclose. PT received payments independent of this work from Ascendis, Novo Nordisk, Rezolute Inc., Spruce Biosciences, Xeris Pharmaceuticals, and Zealand Pharma for performing research studies and consulting fees from Nutrition North America. His institution has received payments on his behalf for consulting from Neurocrine Biosciences, Spruce Biosciences, Crinetics, Rezolute and Zealand Pharma.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"328"}}