Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.

ABSTRACT:

Objective

Central nervous system (CNS) features in children with permanent neonatal diabetes (PNDM) due to KCNJ11 mutations have a major impact on affected families. Sulfonylurea therapy achieves outstanding metabolic control but only partial improvement in CNS features. The effects of KCNJ11 mutations on the adult brain and their functional impact are not well understood. We aimed to characterize the CNS features in adults with KCNJ11 PNDM compared with adults with INS PNDM.

Research design and methods

Adults with PNDM due to KCNJ11 mutations (n = 8) or INS mutations (n = 4) underwent a neurological examination and completed standardized neuropsychological tests/questionnaires about development/behavior. Four individua

SUBMITTER: Bowman P 

PROVIDER: S-EPMC6354912 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature