Electroconvulsive Therapy Shows Promise for Catatonia in SCN2A Variant Patient with Autism
Rapid Improvement in Catatonia Observed After Electroconvulsive Therapy
An 18-year-old female patient diagnosed with autism spectrum disorder and carrying a loss-of-function variant in the SCN2A gene experienced significant relief from catatonia following a course of electroconvulsive therapy (ECT). The patient had been suffering from disabling catatonia for one year prior to treatment.
Treatment Details and Outcomes
After a gradual reduction of lorazepam, the patient underwent bitemporal ECT. Remarkably, her condition improved rapidly, with the Bush-Francis Catatonia Rating Scale score dropping to zero after just four ECT sessions. This remission was sustained even after stopping lorazepam entirely.
However, when the family chose to discontinue ECT after the initial treatment series, catatonia symptoms reappeared two months later. A subsequent course of ECT again led to remission, indicating the therapy’s effectiveness in managing her symptoms.
Physiological Observations During Treatment
Throughout the treatments, the patient’s brain activity showed consistent patterns, including marked postictal suppression on electroencephalogram (EEG). This suppression coincided with cortical spreading depolarization (CSD), a wave of neuronal and glial depolarization. The findings add to emerging research suggesting that CSD may play a role in both the EEG changes observed after ECT and the clinical improvements seen in patients.
Context and Significance
This case is notable for being only the fourth documented instance of catatonia associated with SCN2A variants and represents the oldest known onset age for catatonia in this genetic context. SCN2A is a gene important for neuronal excitability, and its variants have been linked to neurodevelopmental disorders.
While ECT is a recognized treatment for catatonia, this report enhances understanding of its physiological effects and potential mechanisms, especially in patients with underlying genetic factors.
Considerations for Families and Clinicians
Families and healthcare providers should be aware that ECT may offer substantial benefits for catatonia linked to SCN2A mutations, but symptom recurrence can occur if treatment is stopped prematurely. Close monitoring and individualized treatment plans remain essential.
Limitations and Future Directions
As a single case report, these findings cannot establish definitive cause-and-effect relationships or generalize to all patients with SCN2A variants. Further research is needed to clarify the role of cortical spreading depolarization in ECT response and to explore optimal treatment strategies for catatonia in this population.
For more detailed information, see the original study published in Journal of ECT at PubMed.
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