Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
Open Access
- 1 January 2013
- journal article
- case report
- Published by Springer Science and Business Media LLC in Behavioral and Brain Functions
- Vol. 9 (1), 20-11
- https://doi.org/10.1186/1744-9081-9-20
Abstract
Intellectual disability (ID) is often associated with behavioral problems or disorders. Mutations in the GRIN2B gene (MRD6, MIM613970) have been identified as a common cause of ID (prevalence of 0.5 – 1% in individuals with ID) associated with EEG and behavioral problems. We assessed five GRIN2B mutation carriers aged between 3 and 14 years clinically and via standardized questionnaires to delineate a detailed behavioral phenotype. Parents and teachers rated problem behavior of their affected children by completing the Developmental Behavior Checklist (DBC) and the Conners’ Rating Scales Revised (CRS-R:L). All individuals had mild to severe ID and needed guidance in daily routine. They showed characteristic behavior problems with prominent hyperactivity, impulsivity, distractibility and a short attention span. Stereotypies, sleeping problems and a friendly but boundless social behavior were commonly reported. Our observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers.Keywords
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