RESUMO
Objective: This study evaluated the feasibility of a matching-pair test using eye-tracking technology to assess nusinersen effectiveness in patients with advanced spinal muscular atrophy (SMA) type I. Methods: This prospective, observational study enrolled patients with 5q-SMA type I who had lost gross motor function. Three different levels of matching-pair tests were conducted using the eye-gaze system (My Tobii; TobiiDynavox Inc.) at baseline, and after 9 and 24 weeks of nusinersen treatment. The primary endpoint was the change from baseline in matching-pair test scores and response times (i.e., the time to answer matching-pair test) at 24 weeks from baseline. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), Pediatric Quality of Life inventory for patients with Neuromuscular Disease (PedsQL-NM) and Numerical Rating Scale (NRS) scores were also assessed as secondary endpoints. Analysis of ocular fixation was performed as an additional analysis. This study was registered at https://www.umin.ac.jp/ctr/ (UMIN000033935). Results: Seven patients (one male, six female) aged 5-21 years (median 11 years) were enrolled; all patients were bedridden and six patients were ventilated. All seven patients were able to conduct level 1 matching-pair tests at each assessment; five patients were also able to conduct levels 2 and 3. Two patients (those with the highest CHOP-INTEND scores) were able to complete all tests correctly within 60 s. There was a non-significant trend toward improvement in CHOP-INTEND, PedsQL-NM, and NRS scores over the 6-month period. There were no significant differences in the number of actions, errors, correct answers, or response times between baseline and Week 9 or 24 at any level. However, the result of an additional analysis suggests that detection of eye movement would be useful to evaluate for advanced SMA. Conclusions: Eye-tracking systems are possibly feasible for the assessment of treatment efficacy in patients with advanced SMA type I.
RESUMO
Seizure clusters (SCs) are acute repetitive seizures with acute episodes of deterioration during seizure control. SCs can be defined as a series of grouped seizures with short interictal periods. Vagus nerve stimulation (VNS) is a treatment option for drug-resistant epilepsy. We present a case where VNS suppressed epileptic SCs, which had persisted for several months. A 13-year-old boy with congenital cerebral palsy and mental retardation had drug-resistant epilepsy with daily jerking movements and spasms in both sides of his body. The seizures were often clustered, and he experienced two sustained SC episodes that persisted for a few months even with prolonged use of continuous intravenous midazolam (IV-MDZ). The patient underwent VNS device placement at the second sustained SC and rapid induction of VNS. Because the tapering of IV-MDZ did not exacerbate the SC, midazolam was discontinued 4 weeks after VNS initiation. Non-refractory SCs also disappeared 10 months after VNS. The seizure severity was improved, and the frequency of seizures reduced from daily to once every few months. The epileptic activity on electroencephalography (EEG) significantly decreased. This case highlights VNS as an additional treatment option for SC. VNS may be a therapeutic option if SC resists the drugs and sustains. Additional studies are necessary to confirm our findings and to investigate how device implantation and stimulation parameters affect the efficacy of VNS.
