Abstract
BackgroundIntellectual 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.MethodsWe 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).ResultsAll 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.ConclusionOur observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers.
Highlights
Intellectual disability (ID) is often associated with behavioral problems or disorders
We provide a detailed clinical synopsis of the behavioral phenotype associated with GRIN2B mutations
Results of behavioral assessment The results of parents’ and teachers’ ratings by Developmental Behavior Checklist (DBC) and Conners’ Rating Scales Revised (CRS-R):L for all five individuals are illustrated in Figures 2, 3, 4, 5, and Tables 2 and 3 show additional data
Summary
Intellectual disability (ID) is often associated with behavioral problems or disorders. Several recently published papers demonstrate that exome sequencing is a powerful tool for the identification of the genetic basis of ID [2,3] One of these papers shows that de novo point mutations and small indels account for up to 45-55% of patients with severe ID with high locus heterogeneity [2], so it can be assumed that the number of gene mutations involved in ID is higher than previously expected. Diagnosis of ID leads to improvement of psychoeducation, genetic counseling of the families and potentially of therapy in the affected individuals. This is important, because children and youths with ID are at high
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