Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
| Autor: | 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 |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Male
Adolescent Medizinische Fakultät -ohne weitere Spezifikation Medizin Intellectual disability Behavioral Symptoms Receptors N-Methyl-D-Aspartate 570 Life sciences Behavioral Neuroscience 610 Medical sciences Medicine Behavior problems Humans ddc:610 Child Biological Psychiatry Psychiatric Status Rating Scales Research Hyperactivity Phenotype Stereotypies Child Preschool Mutation Female GRIN2B mutations |
| Zdroj: | Behavioral and Brain Functions : BBF |
| Popis: | 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. OA Förderung 2013 |
| Databáze: | OpenAIRE |
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