Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.

ABSTRACT:

Aims

KCNJ11-related diabetes is the most common form of permanent neonatal diabetes and has been associated with a spectrum of neurodevelopmental problems. We compared neurodevelopmental outcomes in patients with KCNJ11 mutations and their sibling controls.

Methods

Through our Monogenic Diabetes Registry (http://monogenicdiabetes.uchicago.edu/), we evaluated 23 patients with KCNJ11 mutations with (n = 9) and without (n = 14) global developmental delay successfully treated with sulfonylurea and 20 healthy sibling controls, using a battery of targeted neuropsychological and behavioural assessments with scaled scores that are comparable across a wide range of ages.

Results

Patients with KCNJ11-related diabetes without global developmental delay had significant difference

SUBMITTER: Carmody D 

PROVIDER: S-EPMC5654490 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature