Case report: Developmental Delay and Acute Neuropsychiatric Episodes Associated with a de novo Mutation in the CAMK2B Gene

In this study, Dwyer and colleagues describe a 15-year-old female with developmental delay and neuropsychiatric episodes due to a de novo CAMK2B mutation (c.328G>A p.Glu110Lys), which resulted in a “gain of function” that increased catalytic activity of CaMKII.

The neuropsychiatric episodes began at age 7 and manifest as encephalopathy with behavioral changes, headache, loss of language and loss of complex motor coordination.

Scientific and clinical research is increasingly demonstrating that a particular kinase enzyme, calcium/calmodulin dependent protein kinase II (CaMKII), which is highly concentrated in the brain, is essential for normal neurodevelopment and cognition but elevated activity can result in seizures, developmental delay and behavioral abnormalities.

STUDY DEMONSTRATES CLINICAL VALUE OF THE CUNNINGHAM PANEL™ AND ACCURACY IN PATIENTS WITH SYMPTOMS OF AN AUTOIMMUNE ENCEPHALOPATHY

Antineuronal antibodies correlate with pre- and post-treatment neuropsychiatric symptoms

This study examined 58 patients tested with the Cunningham Panel™ who were diagnosed with PANS or PANDAS and whether changes in pre- and post-treatment symptoms correlated with anti-neuronal antibody titers and the neuronal cell stimulation assay (CaMKII) measured by the Cunningham Panel™.

In comparing pre- and post-treatment patient symptom status, it was revealed that the Cunningham Panel™ results paralleled changes in a patient’s neuropsychiatric symptoms following treatment. The Cunningham Panel demonstrated an overall accuracy of 86% to 90%, a sensitivity of 88% and a specificity of 83% to 92% when comparing clinical symptoms to test results.

The study results support the clinical utility of the Cunningham Panel™ as an aid to a physician’s diagnosis and may help in managing treatment of an infection-triggered autoimmune encephalopathy, such as PANS/PANDAS.

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