Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases - Summary - MDSpire
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Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases
To describe the neurodevelopmental, neuropsychiatric, and dysmorphic features of five patients with pathogenic variants in SHANK genes, focusing on specific symptoms and conditions.
Key Findings:
Five patients with pathogenic variants in SHANK1, SHANK2, and SHANK3 were identified, representing 4.3% of the cohort, indicating a notable prevalence of these variants.
Two loss of function variants in SHANK1 were found, absent from the Genome Aggregation Database, suggesting their potential clinical significance.
Interpretation:
The findings suggest a prevalent neuropsychiatric phenotype associated with SHANK gene variants, highlighting the genetic underpinnings of psychiatric disorders in patients with intellectual disabilities and the need for targeted interventions.
Limitations:
The study is limited by the small sample size of five patients, which may restrict the ability to draw broader conclusions.
The cohort may not be representative of all patients with SHANK gene variants, potentially limiting the applicability of the findings.
Conclusion:
This study emphasizes the importance of genetic screening in understanding the neuropsychiatric profiles of patients with SHANK gene variants, which could lead to improved management strategies.
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