Outcomes following vagus nerve stimulation (VNS) improve over years after implantation in children with drug‐resistant epilepsy. The added value of deep brain stimulation (DBS) instead of continued VNS optimization is unknown. In a prospective, non‐blinded, randomized patient preference trial of 18 children (aged 8–17 years) who did not respond to VNS after at least 1 year, add‐on DBS resulted in greater seizure reduction compared with an additional year of VNS optimization (51.9% vs. 12.3%, p = 0.047). Add‐on DBS also resulted in less bothersome seizures (p = 0.03), but no change in quality of life. DBS may be considered earlier for childhood epilepsy after non‐response to VNS. ANN NEUROL 2024;96:405–411

Background: Parkinson’s disease (PD) presents with motor symptoms such as bradykinesia, rigidity, and tremor that can affect gait. To monitor changes associated with disease progression or medication use, quantitative gait assessment is often performed during clinical visits. Conversely, vision-based solutions have been proposed for monitoring gait quality in non-clinical settings. Methods: We use three 2D human pose-estimation libraries (AlphaPose, Detectron, OpenPose) and one 3D library (ROMP) to calculate gait features from color video, and correlate them with those extracted by a Zeno instrumented walkway in older adults with PD. We calculate video-based gait features using a manual and automated heel-strike detection algorithm, and compare the correlations when the participants walk towards and away from the camera separately. Results: Based on analysis of 67 bidirectional walking bouts from 25 adults with PD, moderate to strong positive correlations were identified between the number of steps, cadence, as well as the mean and coefficient of variation of step width calculated from Zeno and video using 2D pose-estimation libraries. We noted that our automated heel-strike annotation method struggled to identify short steps. Conclusion: Gait features calculated from 2D joint trajectories are more strongly correlated with the Zeno than analogous gait features calculated from ROMP. Based on our analysis, videos processed with 2D pose-estimation libraries can be used for longitudinal gait monitoring in individuals with PD. Future work will seek to improve the prediction of gait features using a comprehensive machine learning model to predict gait features directly from color video without relying on intermediate extraction of joint trajectories.

Background and Objectives Relative to the pediatric population, there is limited information about Dravet syndrome (DS) in adults. In addition to some of the gait abnormalities reported in children with DS (such as crouch gait and ataxia), adults with this condition have other gait and motor disturbances. Our primary objective was to examine gait and motor manifestations in adults with DS. Methods This study includes a prospective arm where 6 patients (mean age, 32 years) were examined through a modified version of the Unified Parkinson9s Disease Rating Scale (mUPDRS) in 2014 and again in 2019. mUPDRS scores were assigned to gait, resting tremors, facial expression, arising from a chair, posture, and body bradykinesia. The cross-sectional arm includes mUPDRS testing in patients who were not evaluated in 2014 and an instrumental gait analysis (IGA). These cross-sectional tests were done in the 2019–2020 period. The IGA was performed using ProtoKinetics software with a gait mat built with sensors and 2 cameras capturing the sagittal and coronal planes. The IGA was performed in a group of 17 patients with DS (mean age, 31 years); the control group consisted of 81 healthy individuals, whose mean age was 62 years. Regression analyses were performed for the IGA and mUPDRS data. Results Five out of 6 participants evaluated prospectively over 5 years experienced worsening of their parkinsonian manifestations, including gait. Two patients (47 and 51 years of age) who were initially ambulatory could no longer walk 5 years later. The cross-sectional analysis of mUPDRS in a larger group of adults showed that worse scores for arising from a chair (p = 0.04), body bradykinesia (p = 0.01), and gait (p = 0.0003) were positively associated with age. The IGA cross-sectional arm revealed that all 17 adults with DS had abnormal gait measures in all domains tested. This group of patients performed worse than the healthy and older control group. Discussion Although seizures may decrease in older adults with DS, this prospective and cross-sectional study showed that their motor symptoms and gait become progressively worse as they age.

Objective: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and determine whether abnormalities reported were detectable in validated tests. We also investigated possible correlations between symptoms, age, and exposure to sodium channel blockers (SCBs). Methods: This cross‐sectional, multicenter study used the Vineland Adaptive Behavior Scales, 3rd edition (raw scores) for behavior analyses and Moss–Psychiatric Assessment Schedules checklist to screen for psychiatric symptoms. The Social Communication Questionnaire screened for social communication deficits. Parkinsonian features were evaluated with the modified Unified Parkinson's Disease Rating Scale. For gait evaluation, we validated the use of home videos, using instrumental gait analysis in a subgroup of patients, and then used the home videos for the remainder. Results: A total of 92 patients were enrolled (age range = 18–51 years, mean = 27.93 ± 8.59 years). Sixty percent of caregivers observed a decline in previously acquired skills, including intelligence, speech, interaction with others, ability to climb stairs and walk without support, and hand coordination. Adaptive skills, parkinsonian symptoms, and gait were worse in older patients and those exposed to SCBs for longer periods of time. Fourteen percent of patients screened positive for affective disorders, 11.6% for dementia, and 10.5% for a psychotic disorder. Fifty‐three percent screened positive for social communication deficits. Significance: This is the largest group of adults with DS to be systematically evaluated. They had severe nonseizure symptoms. Older age and longer use of SCBs were associated with worse adaptive skills, gait, and parkinsonism. Some older adults screened positive for depression and dementia. Caregivers identified functional decline in activities of daily living (ADLs). Taken together, the risk of dementia, parkinsonian gait, and decline in ability to perform previously mastered ADLs support that some adults with DS may be developing a neurodegenerative disorder.