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Pediatric GAD-65 Autoimmune Encephalitis: Assessing Clinical Characteristics and Response to Therapy With a Novel
Alexis Harmon1, Cory Stingl2, Aruna Rikhi3
1Duke University School of Medicine, Durham, North Carolina.
Insights
Pediatric Glutamic Acid Decarboxylase (GAD) encephalitis presents with varied symptoms. While cognition and fatigue improve over time, seizures and psychiatric issues may persist, highlighting the need for tailored treatments.
Area of Science:
- Neuroimmunology
- Pediatric Neurology
- Autoimmune Encephalitis
Background:
- Glutamic acid decarboxylase (GAD) encephalitis is a neuroinflammatory condition affecting children, presenting with diverse symptoms like cognitive decline, seizures, and behavioral changes.
- Understanding symptom progression and treatment response in pediatric GAD encephalitis is limited due to heterogeneous presentations.
Purpose of the Study:
- To characterize symptom profiles and progression in pediatric GAD encephalitis.
- To evaluate the utility of a novel symptom severity scale in assessing functional outcomes.
- To analyze response to immunotherapy over a one-year follow-up period.
Main Methods:
- Retrospective chart review of 10 pediatric patients (<18 years) diagnosed with GAD encephalitis.
- Assessment of clinical, imaging, and laboratory findings at diagnosis and at 6- and 12-month follow-ups.
- Utilized a novel scale to quantify symptom severity across cognitive, language, seizure, psychiatric, sleep, and movement domains.
Main Results:
- All patients presented with cognitive deficits; seizures and language decline were observed in 60% and 70% respectively.
- Psychiatric symptoms, including psychosis, were prominent in most patients.
- Cognition and fatigue showed significant improvement over time, while seizures, psychiatric symptoms, and sleep disturbances showed limited improvement.
Conclusions:
- Pediatric GAD encephalitis exhibits significant variability in symptom presentation and progression.
- Symptom severity scales are beneficial for assessing functional outcomes in this population.
- Further research is needed to understand long-term outcomes and optimize immunotherapy strategies.
Background:
Glutamic acid decarboxylase (GAD) encephalitis is a neuroinflammatory disease characterized by a broad range of symptoms including cognitive deficits, behavioral changes, and seizures. Children with this disorder have heterogeneous presentations, and little is known about symptom progression over time and response to immunotherapy.
Methods:
This study reports 10 pediatric GAD encephalitis cases and symptoms found at presentation and follow-up. In addition, symptom severity was reported utilizing a novel scale evaluating functional outcomes across the domains affected by autoimmune encephalitis including cognition, language, seizures, psychiatric symptoms, sleep, and movement. Retrospective chart review was conducted for 10 patients aged <18 years, diagnosed with GAD encephalitis, and followed for one year or more. Chart review included clinical, imaging, and laboratory findings at time of diagnosis and at six- and 12-month follow-ups.
Results:
At presentation, cognitive deficits were found in all patients, seizures in six of 10, and language decline in seven of 10. Psychiatric symptoms were prominent for all but one patient with three of nine patients presenting with psychosis. Fatigue, sleep disruption, and movement disorders were less prominent symptoms, occurring in approximately half of the cohort. Cognition and fatigue improved significantly over time when compared with symptom severity, whereas seizures, psychiatric symptoms, and sleep did not. Language and sleep showed improvement only in early stages. Analysis of seizure frequency and type noted variability mirroring trends noted in adult studies of GAD encephalitis.
Conclusions:
This study demonstrated the variability of symptom profiles of pediatric GAD encephalitis and benefits of symptom severity scales. Symptom profiles and progression vary in this population.
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