Long-term analysis of the effects of COVID-19 in people with epilepsy: Results from a multicenter on-line survey across the pandemic waves.

PURPOSE: The worldwide pandemic caused by SARS-CoV-2 virus posed many challenges to the scientific and medical communities, including the protection and management of fragile populations. People with epilepsy (PWE) are a heterogenous group of subjects, with different treatment regimens and severity of symptoms. During the National lockdown, in Italy many patients with chronic conditions lost their regular follow-up program. The aim of this study was to investigate the impact of COVID-19 on their health status, from the start of the pandemic (March 2020) to July 2021 and one year later. METHODS: We proposed an online questionnaire to subjects followed up at different epilepsy centers located in Milano, Monza & Lodi, three of Lombardy, Northern Italy, the most affected areas by the pandemic. Survey evaluated age, sex, characteristics of patients, type of epilepsy and therapies, COVID-19 diagnosis, vaccines, sleep quality, and anxiety status. RESULTS: Among 178 analyzed surveys, 37 individuals reported symptoms of COVID-19 in closed contacts, including 9 with molecular diagnosis and 16 PWE performing the nasopharyngeal swab with 3 positive cases. One year later, 35 individuals reported at least one symptom overlapping with those typical of COVID-19, 8 received COVID-19 diagnosis, among which 6 were positive for SARS-CoV-2 infection. According to the sleep quality scale assessment, most PWE (52.3%) had poor sleep quality. Assessing anxiety status, 32 (38.1%) had a pathological score. CONCLUSION: In this multicenter study, we observed that PWE do not appear to be at a higher risk of severe COVID-19. It will be fundamental monitoring this group to assess possible differences in long-COVID-19 and/or neuro-COVID-19 prevalence. On the other hand, our survey confirmed the impact of the pandemic on anxiety and quality of sleep in PWE. Thus, it is important to promptly recognize and treat psychological distress in PWE, because it could be a risk factor in seizure aggravation and quality-of-life deterioration. Telemedicine appears to be a useful tool to support patients with chronic diseases, such as epilepsy.

Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project.

Cerebral amyloid angiopathy (CAA) is one of the major types of cerebral small vessel disease, and a leading cause of spontaneous intracerebral hemorrhage and cognitive decline in elderly patients. Although increasingly detected, a number of aspects including the pathophysiology, the clinical and neuroradiological phenotype, and the disease course are still under investigation. The incomplete knowledge of the disease limits the implementation of evidence-based guidelines on patient's clinical management and the development of treatments able to prevent or reduce disease progression. The SENECA (SEarchiNg biomarkErs of Cerebral Angiopathy) project is the first Italian multicenter cohort study aimed at better defining the disease natural history and identifying clinical and neuroradiological markers of disease progression. By a multidisciplinary approach and the collection of a large and well-phenotyped series and biorepository of CAA patients, the study is ultimately expected to improve the diagnosis and the knowledge of CAA pathophysiological mechanisms.

Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.

Pathogenic variants in the SCN8A gene have been associated with a broad phenotypic spectrum, ranging from benign familial infantile seizures to severe, early-onset developmental and epileptic encephalopathy. This spectrum also includes an "intermediate phenotype" characterized by different degrees of cognitive disability, mild neurological impairment, and therapeutically manageable epilepsy. We report on a child harbouring a de novo, novel SCN8A deletion, whose clinical picture is consistent with an SCN8A-related "intermediate phenotype". This patient's peculiar feature is the occurrence of paroxysmal tonic upgaze (PTU), a non-epileptic disorder consisting of sustained conjugate upward deviation of the eyes, with neck flexion, and downbeat saccades. PTU has been described in otherwise healthy children, as well as in a few genetic syndromes, but has never been observed in SCN8A-related phenotypes. This report, therefore, adds a new symptom to the spectrum of movement disorders associated with SCN8A-related developmental and epileptic encephalopathy. In this short communication, we provide video-EEG documentation of PTU and seizures, and discuss the challenging differential diagnosis between the two symptoms.