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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes

Karen A Landmeier1, Monica Lanning2, David Carmody2

  • 1Section Department of Developmental and Behavioral Pediatrics, The University of Chicago, Chicago, Illinois.

Pediatric Diabetes
|August 25, 2016
PubMed

Insights

Mutations in KCNJ11 cause neonatal diabetes mellitus (NDM) and are linked to increased risks of ADHD, learning delays, and sleep issues in affected children. Early support may improve neurodevelopmental outcomes.

Area of Science:

  • Endocrinology
  • Genetics
  • Neurodevelopmental Disorders

Background:

  • Mutations in KCNJ11 are the primary genetic cause of permanent neonatal diabetes mellitus (NDM).
  • While overt neurological dysfunction is observed in some NDM patients, milder neurodevelopmental concerns remain less understood.
  • Assessing parental concerns regarding learning, behavior, ADHD, social skills, and sleep is crucial for understanding the full impact of KCNJ11 mutations.

Purpose of the Study:

  • To determine the prevalence of parental concerns about learning, behavior, ADHD, social competency, and sleep in children with KCNJ11-related NDM.
  • To compare these concerns in affected children with those of unaffected sibling controls.
  • To identify potential neurodevelopmental consequences associated with KCNJ11 mutations.

Main Methods:

  • Surveys were administered to guardians of subjects in the University of Chicago Monogenic Diabetes Registry.
  • The survey assessed learning, behavior, ADHD, and sleep patterns.
  • Data from 30 subjects with KCNJ11-related NDM and 25 unaffected sibling controls were analyzed using nonparametric Fisher's exact test.

Main Results:

  • 43% of individuals with KCNJ11-related NDM had ADHD diagnoses or treatment, compared to 8% of controls (P < 0.05).
  • Significant differences were observed in behavior difficulties, social awareness, academic achievement, and the need for Individualized Education Plans (IEPs) in affected individuals.
  • Individuals with KCNJ11 mutations exhibited significantly higher rates of sleep difficulties (P < 0.01).

Conclusions:

  • Parent-reported data indicate an increased risk for learning delays, social-emotional and behavioral issues, ADHD, and sleep difficulties in patients with KCNJ11-related NDM.
  • Early identification and integrated medical and developmental support are recommended to enhance neurodevelopmental outcomes.
  • Further research with detailed neuropsychological testing is needed to fully elucidate the neurodevelopmental consequences of KATP channel mutations.
Abstract

Keywords:
attention deficit disorder with hyperactivitydevelopmental disabilitiesdiabetes mellitusgeneticspermanent neonatal

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