ESPE Abstracts (2014) 82 P-D-2-3-483

Neurodevelopmental Outcomes in Early and Late Presenting Congenital Hyperinsulinism

Zainaba Mohameda,b, Jacqueline Nicholsona, Imran Zamira, Thomas Butlera, Lindsey Rigbya, Louise Bowdena, Philip Murraya,c, Caroline Steelea, Raja Narender Rao Padidelaa, Leena Patela, Karen Cosgroveb, Peter Claytona,c, Mark Dunneb & Indraneel Banerjeea,b


aDepartment of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK; bFaculty of Life Sciences, University of Manchester, Manchester, UK; cFaculty of Human Sciences, University of Manchester, Manchester, UK


Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.

Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.

Method: A cohort of children with E-CHI (n=24) and another with L-CHI (n=13), who underwent psychometric testing using the parent reported Vineland Adaptive Behaviour Scales II (VABS-II) 2 years after diagnosis of CHI, were assessed for performance in the domains of communication, daily living skills, socialisation, motor skills, and behaviour. VABS-II scores were categorised as low (<−2 SDS) or acceptable (>−2 SDS), using normative data.

Results: Children with E-CHI and L-CHI presented at median (range) 1 (1:6) and 270 (72; 1260) days respectively. Mutations in ABCC8/KCNJ11 were identified in 12 (50%) E-CHI children, compared to 3 (23%) in L-CHI children. In E-CHI, low VABS-II was observed in the following domains in decreasing order of frequency: behaviour (56%), motor (25%), daily living skills (16%), social (16%), and communication (8%). In contrast, in L-CHI, the order of frequency of low VABS-II was: behaviour (30%), communication (30%), daily living skills (30%), motor (18%), and social (16%). These domain frequencies were not significantly different between E-CHI and L-CHI. However, within E-CHI, mean (S.D.) VABS-II scores were lower for motor than for communication (80.3 (23.2) vs 92.1 (19.6), P=0.02) while in L-CHI, VABS-II was similar among all domains.

Conclusion: Adverse neurodevelopmental outcomes occur in several domains in both early and late presenting CHI. In early presenters, motor ability is reduced more than communication, while in late presenters all domains are equally affected. Prompt recognition and treatment of hypoglycaemia, particularly in older children, may prevent neurodevelopmental morbidity in CHI.