SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life.

SYNGAP1-developmental and epileptic encephalopathy (SYNGAP1-DEE) has been recently featured as a distinct genetic disease characterized by global psychomotor delay mainly involving language, moderate-to-severe cognitive impairment, autism spectrum disorder, and a generalized epilepsy with spontaneous and reflex seizures. The severity and variability of function impairment and the impact on patients' and caregivers' daily life are still poorly acknowledged. The SYNGAP1 Italian Family Association developed a survey, shared online with caregivers, exploring several issues, including: epilepsy outcome, comorbidities, daily-living skills, hospitalizations, rehabilitation treatments, economic burden, and COVID-19 pandemic impact. Caregivers of 13 children and adolescents participated in the survey. They most often show a fine and gross-motor impairment and a drug-resistant epilepsy with possibility to experience pluridaily absence seizures that may lead to periods of psychomotor regressions. Eating and sleep problems are reported in the majority. Most parents are concerned about language impairment, behavioral issues and lack of autonomy in daily-living activities. Specific neuropsychological evaluations for autism should be early considered in order to identify intervention strategies involving alternative communication strategies, which can positively affect behavior and quality of life. Rehabilitation treatment should aim to the acquisition and consolidation of personal autonomy.

Remote Teamwork Management of NORSE During the COVID-19 Lockdown.

New-onset refractory status epilepticus (NORSE) is rare condition, and sharing knowledge is vital in its management, based on strict collaboration between multiple specialists, continuous EEG (c-EEG) monitoring, and prompt therapy modification. The coronavirus disease 2019 (COVID-19) pandemic challenged many of these established practices because of "social distancing" measures, making it necessary to work around physical restrictions. We report a case of a 10-year-old with NORSE admitted in a pediatric intensive-care unit and monitored with c-EEG and amplitude-integrated EEG. The monitoring interface was livestreamed using videoconference web-based platforms allowing remote viewing. Multiple daily web meetings took place between team members, where real-time therapy response was evaluated and confronted with medium-term trends in the epileptic activity, dictating further treatment and diagnostic steps. In addition to the known use of telemedicine in chronic conditions, we report how its use can be exploited to treat urgent conditions such as NORSE. By taking advantage of new tools and virtual environments, we were able to share treatment and diagnostic decisions and guarantee real-time therapy adjustments and a coherent course in treatment despite restrictions necessary for the COVID-19 pandemic. The constant specialist monitoring and the coherent and on-time communication of the patient's condition relieved the family stress, usually complained in these situations.