AI Article Synopsis
- Intellectual disability (ID) can often lead to behavioral issues, and mutations in the GRIN2B gene are a common cause of ID, affecting about 0.5 - 1% of individuals with this condition.
- Researchers evaluated five children aged 3 to 14 years with GRIN2B mutations using standardized behavioral assessments to identify their specific behavior patterns.
- All participants exhibited varying degrees of ID and displayed notable behavior problems such as hyperactivity, impulsivity, distractibility, and atypical social interactions, providing insights into the behavioral characteristics associated with GRIN2B mutations.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3685602 | PMC |
| http://dx.doi.org/10.1186/1744-9081-9-20 | DOI Listing |
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