In: Behavioral and Brain Functions, 9 (2013), Nr. 20. S. 1-11. ISSN 1744-9081

Vorschau

PDF, Englisch Download (1MB) | Lizenz: Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene von Freunscht, Inga ; Popp, Bernt ; Blank, Rainer ; Endele, Sabine ; Moog, Ute ; Petri, Holger ; Prott, Eva-Christina ; Reis, Andre ; Rübo, Jochen ; Zabel, Bernhard ; Zenker, Martin ; Hebebrand, Johannes ; Wieczorek, Dagmar steht unter einer Creative Commons Namensnennung 3.0 Deutschland

Abstract

Background: 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. Methods: 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). Results: 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. Conclusion: Our observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers.