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Intellectual Disability in KATP Channel Neonatal Diabetes

Pernille Svalastoga1,2, Åsta Sulen1, Jarle R Fehn3

  • 1Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.

Diabetes Care
|January 15, 2020
PubMed

Insights

The p.V59M genotype in KATP channel neonatal diabetes is linked to significant intellectual disability. This finding impacts understanding of treatment benefits and neuropsychiatric risks in affected children.

Area of Science:

  • Endocrinology
  • Genetics
  • Neuroscience

Background:

  • Neonatal diabetes mellitus (NDM) is linked to neuropsychiatric issues.
  • The precise impact of specific NDM mutations on intellectual functioning remains unclear.
  • Limited data exists for NDM patients with developmental delay.

Purpose of the Study:

  • To comprehensively assess intellectual functioning and mental health in the Norwegian KATP channel NDM population.
  • To investigate genotype-phenotype correlations, particularly for the p.V59M mutation.
  • To evaluate the influence of sulfonylurea treatment timing on cognitive outcomes.

Main Methods:

  • Evaluated the complete Norwegian KATP channel NDM cohort.
  • Included eight sulfonylurea-treated children (five with p.V59M genotype).
  • Utilized developmental examinations, cerebral MRI, psychometric testing, and questionnaires compared to type 1 diabetes controls.

Main Results:

  • A strong genotype-phenotype correlation identified the p.V59M genotype with substantial intellectual disability.
  • Other genotypes were associated with minor cognitive impairment.
  • Cerebral MRI showed normal brain anatomy in most participants.

Conclusions:

  • The p.V59M genotype is strongly associated with significant intellectual disability in KATP channel NDM.
  • Intellectual disability complicates the interpretation of psychological measures and the perceived benefit of sulfonylurea.
  • This study found no evidence for an early treatment start benefit, though a weaker effect cannot be excluded.
Abstract

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