Supplemental data from: Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann Syndrome

Context: Congenital hyperinsulinism (HI) is a serious clinical feature of Beckwith-Wiedemann syndrome (BWS) causing severe hypoglycemia. The relationship between BWS genotypes and HI severity is not well understood.
Objective: Investigate the relationship between molecular determinants of patients with BWS and HI with measures of HI severity.
Design: Retrospective cohort study including 85 children from 2009-2024.
Setting: All patients evaluated at single, tertiary care center.
Patients: BWS genotype frequency included 41 children with pUPD11, 24 with IC2 LOM, eight with 11p15 chromosomal anomalies, six with GWpUPD, four with IC1 GOM, and two with CDKN1C.
Interventions: Retrospectively reviewed interventions included maximum glucose infusion rate (max GIR), diazoxide responsiveness, and surgery.
Main Outcome Measures: Primary outcome was association between BWS genotypes and measures of HI severity. Secondary outcomes included the relationship between pUPD11 length and presence of K-ATP..., Patient Cohort
All patients included in this study received care at the Children’s Hospital of Philadelphia Congenital Hyperinsulinism Center. A retrospective chart review was conducted on medical records of patients with molecularly confirmed BWS and a diagnosis of hyperinsulinism between 2009 and 2024. Among all patients with BWS cared for at the Children’s Hospital of Philadelphia between 2009 to 2024, only those with a molecularly confirmed diagnosis were eligible for inclusion and patients with only a clinical diagnosis of BWS were excluded. From this molecularly confirmed BWS cohort, patients were included if they also had a diagnosis of hyperinsulinism. The diagnosis of HI was established when hypoglycemia persisted beyond the first week of life and was supported by additional criteria such as increased glucose requirement, inappropriately low plasma concentrations of beta-hydroxybutyrate and free fatty acids, and a glycemic response to glucagon. Molecular testing via single nucl..., # Supplemental data from: Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann Syndrome

Dataset DOI: [10.5061/dryad.95x69p908](https://doi.org/10.5061/dryad.95x69p908)

## Description of the data and file structure

Supplemental tables and figures are included with legends, this includes all data for this publication.

Supplementary Table 1. Percent Mosaicism Calculations, csv document

Supplementary Table 2: Cardinal and Suggestive Features of BWS, csv document

Supplementary Table 3. Clinical Features of BWS-Hyperinsulinism Cohort by Molecular Subtype, csv document

Supplementary Table 4. HI Pathogenic Variants in Novel Cohort, csv document

Supplementary Table 5. Pancreatectomy Extent and Post-operative Treatments, csv document

Supplementary Table 6. Sensitivity and Specificity of Firth’s Logistic Regression, csv document

Supplementary Figure 1. HI Therapeutic Considerations by BWS Molecular Subtype, pdf figure

Supplementary Figure 2. Receiver operating ch..., We received explicit consent from our participants to publish the de-identified data in the public domain, and all data when entered into the database are de-indentifed and the data tables are generated with these deidentifed data that cannot be re-linked to specific patients. , Patients for this student were consented under IRB 13-010658 which includes publication of de-identified data. Data is collected under a study number and PHI are separated from the data when it is collected for analysis.