Peer-reviewed article
Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.
Lopez LN, Banerjee I, De Leon DD, Pasquini TLS, Roeper M et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study examined neurodevelopmental outcomes in 193 children with congenital hyperinsulinism (a rare condition causing severe low blood sugar) from 34 countries. Two-thirds of all participants, and 72% of children aged 5 years or older, reported adverse neurodevelopmental outcomes including developmental delays, neurological disorders, and mental health conditions. Beyond formal diagnoses, families reported challenges with social, emotional, and behavioral problems in daily life. The authors recommend proactive developmental assessments and multidisciplinary support for all children with this condition.
Key points
- 66% of all 193 participants with congenital hyperinsulinism reported adverse neurodevelopmental outcomes
- Among children aged ≥5 years (n=145), 72% had adverse outcomes, including 50% with diagnosed neurological/neurodevelopmental/sensory disorders and 57% with developmental delay history
- 18% of older children reported diagnosed mental health conditions
- Approximately half of affected children were capable of performing at peer level in daily life domains despite neurodevelopmental challenges
- Families reported social, emotional, and behavioral problems extending beyond formal clinical diagnoses
Limitations
This study relies on self-reported data from families rather than standardized clinical assessments, which may introduce recall bias or inconsistency in how outcomes are interpreted across the diverse international cohort. The cross-sectional design cannot determine causal relationships between the condition, treatment approaches, and neurodevelopmental outcomes.
Abstract
Background Congenital hyperinsulinism (HI) is a rare condition causing excessive insulin secretion, leading to severe hypoglycemia and high risk of neurological damage. 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. Results 193 participants with HI from 34 countries were included in this analysis. Mean age at follow-up was 12.52 years (SD = 12.60). 66% of all participants, and 72% of participants aged ≥ 5 years at follow-up (n = 145), reported an adverse neurodevelopmental outcome. Of those aged ≥ 5 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 ≥ 5 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. Conclusions 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.
Findings the Hub has extracted
Each claim below is labelled by its type of design and links back to this report.
- Intervention
- Proactive developmental assessments and multidisciplinary team support for medical and developmental care
- Population
- 193 people with congenital hyperinsulinism from 34 countries, mean age 12.52 years at follow-up
Key finding
66% of all participants reported adverse neurodevelopmental outcomes
LN et al. · Europe PMC · 3 Jul 2026