Neurodevelopmental Outcomes in HI
Published on
HI Hope
By Elizabeth Rosenfeld, MD, MSCE
Unrecognized or inadequately treated hyperinsulinism (HI) poses a high risk of adverse neurodevelopmental outcomes due to the combined insult of hypoglycemia and lack of alternate brain fuels. The prevalence of neurodevelopmental differences in children with HI has been reported to range between 26% and 50%. These rates reflect composite outcomes ascertained both via formal assessment and by parent report that include delayed developmental milestones, learning differences, need for educational support and behavioral disorders.
Prior CHOP research evaluating outcomes in children who underwent pancreatectomy for treatment of HI found that 48% of participants reported neurobehavioral problems. Reported difficulties included speech delay in 18%, psychiatric and behavioral problems in 21%, learning disability in 16%, and attention-deficit hyperactivity disorder in 10%. A study of young adults with hyperinsulinism/hyperammonemia syndrome (HI/HA) revealed that 75% of subjects reported a history of neurodevelopmental problems. These findings are in keeping with reports from other centers around the world.
Notably, in these studies only one-quarter of children had formal neuropsychologic assessment. Many children with neurobehavioral issues were only identified after struggling academically in school.
Formal neuropsychological testing reveals deficits
More recently, studies incorporating formal neuropsychological testing in children with HI have revealed that difficulties in attention, working memory and executive functions are common among children with HI.
Problems in these areas may not become readily apparent until educational demands increase, which highlights the importance of dedicated neurobehavioral and cognitive assessment for children with HI. Through identification of an individual child’s strengths and challenges, interventions can be tailored to support educational growth and social development proactively.
Notably, the prevalence of adverse neurodevelopmental outcomes is similar in children with focal HI — who can be cured with surgical resection — and children with diffuse HI, who usually require ongoing treatment for hypoglycemia even after near-total pancreatectomy.
Moreover, similar rates of adverse neurodevelopmental outcomes have been reported in children with perinatal stress-induced hyperinsulinism, when hypoglycemia exposure is limited to the first months of life.
These findings underscore that regardless of the etiology of HI, or whether HI has been cured, longitudinal assessment of neurodevelopmental, behavioral and cognitive development is essential for all children with HI.
These finding guided the decision of the Congenital Hyperinsulinism Center at Children’s Hospital of Philadelphia to add a dedicated neuropsychologist to the center’s multidisciplinary team. Neuropsychologist Sophie Foss, PhD, recently joined CHOP to provide thorough neurodevelopmental evaluations for HI Center patients.
