In: Behavioral and Brain Functions, 9 (2013), Nr. 20. S. 1-11. ISSN 1744-9081
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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.
Dokumententyp: | Artikel |
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Titel der Zeitschrift: | Behavioral and Brain Functions |
Band: | 9 |
Nummer: | 20 |
Verlag: | BioMed Central |
Ort der Veröffentlichung: | London |
Erstellungsdatum: | 25 Jan. 2016 11:47 |
Erscheinungsjahr: | 2013 |
ISSN: | 1744-9081 |
Seitenbereich: | S. 1-11 |
Institute/Einrichtungen: | Medizinische Fakultät Heidelberg und Uniklinikum > Institut für Humangenetik |
DDC-Sachgruppe: | 570 Biowissenschaften, Biologie
610 Medizin |