Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber Syndrome.

BACKGROUND AND PURPOSE: Sturge-Weber syndrome is a rare congenital neuro-oculo-cutaneous disorder. Although the principal mechanism of Sturge-Weber syndrome is characterized by a leptomeningeal vascular malformation, few data regarding perfusion abnormalities of the brain parenchyma are available. Therefore, the aim of this study was to assess the diagnostic performance of arterial spin-labeling perfusion imaging in the early stage of Sturge-Weber syndrome before 1 year of age until 3.5 years of age. We hypothesized that a leptomeningeal vascular malformation has very early hypoperfusion compared with controls with healthy brains. MATERIALS AND METHODS: We compared the CBF using arterial spin-labeling perfusion imaging performed at 3T MR imaging in the brain parenchymal regions juxtaposing the leptomeningeal vascular malformation in patients with Sturge-Weber syndrome (n = 16; 3.5 years of age or younger) with the corresponding areas in age-matched controls with healthy brains (n = 58). The analysis was performed following two complementary methods: a whole-brain voxel-based analysis and a visual ROI analysis focused on brain territory of the leptomeningeal vascular malformation. RESULTS: Whole-brain voxel-based comparison revealed a significant unilateral decrease in CBF localized in the affected cortices of patients with Sturge-Weber syndrome (P < .001). CBF values within the ROIs in patients with Sturge-Weber syndrome were lower than those in controls (in the whole cohort: median, 25 mL/100g/min, versus 44 mL/100g/min; P < .001). This finding was also observed in the group younger than 1 year of age, emphasizing the high sensitivity of arterial spin-labeling in this age window in which the diagnosis is difficult. CONCLUSIONS: Arterial spin-labeling perfusion imaging in the early stage of Sturge-Weber syndrome can help to diagnose the disease by depicting a cortical hypoperfusion juxtaposing the leptomeningeal vascular malformation.

Physician and patient satisfaction with the switch to remote outpatient encounters in epilepsy clinics during the Covid-19 pandemic.

PURPOSE: Analyzing parents' and physicians' opinions regarding phone-based encounters in emergency shifts of a French pediatric epilepsy center compared to traditional face-to-face encounters during the first lockdown of the COVID-19 pandemic METHODS: Prospective monocentric study on remote encounters at Necker rare epilepsy reference center from March 20th, 2020 to April 23rd, 2020 due to lockdown measures. This study was conducted with a survey based on 5-point Likert scales (LS-2/2) designed for both parents and physicians. We compared first versus follow-up encounters as well as physicians' and parents' opinions. RESULTS: We had a total of 224 responses, among which 204 were completed by physicians (91%) and 173 (84,4%) by parents. Twenty five were first encounters (14,2%). Physicians pointed out the need for clinical examination (42.6%), mainly for first encounters (p=0.0004). Physicians rated the quality of communication lower (p=0.003) as their capacity to answer parents' questions (p=0.004). They were significantly less satisfied with remote encounters compared to parents (p<10-4). We identified six urgent (2.9%) and 50 semi-urgent (24%) situations requiring programming face-to-face encounter during or shortly after the lockdown. CONCLUSION: Remote encounters could be a helpful practice for pediatric patients with epilepsy in emergency situations such as pandemics. It allowed the identification and prioritization of emergency situations. Physicians were less positive than parents. We raised the possible use of remote encounters in association to face-to-face encounters for routine follow-up of pediatric patients with epilepsy.

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.

OBJECTIVE: We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types: interstitial (intdup15) and isodicentric (idic15). METHODS: Clinical data and 70 EEGs of 12 patients (5 intdup15, 7 idic15), followed from 4.5 m.o to 17y4m (median follow-up 8y3m), were retrospectively reviewed. EEGs were analyzed visually and using power spectrum analysis. RESULTS: Seventy video-EEGs were analyzed (1-16 per patient, median 6), follow-up lasting up to 8y10m (median 4y2m): 25 EEGs in intdup15 (8 m.o to 12y.o, median 4y6m) and 45 EEGs in idic15 (7 m.o to 12 y.o, median 15 m). Epilepsy: 6 West syndrome (WS) (2intdup15, 4idic15); 4 Lennox-Gastaut syndromes (LGS) (1 intdup15, 3 idic15), 2 evolving from WS; focal epilepsy (3 intdup15). In idic15, WS displayed additional myoclonic seizures (3), atypical (4) or no hypsarrhythmia (2) and posterior predominant spike and polyspike bursts (4). Beta-band rapid-rhythms (RR): present in 11 patients, power decreased during non-REM-sleep, localization shifted from diffuse to anterior, peak frequency increased with age. CONCLUSION: WS with peculiar electro-clinical features and LGS, along with beta-band RR decreasing in non-REM-sleep and shifting from diffuse to anterior localization with age are recognizable features pointing towards dup15q diagnosis in children with autism spectrum disorder and developmental delay. SIGNIFICANCE: This study describes electroclinical features in both interstitial and isodicentric duplications of chromosome 15q, in epileptic children, including some recent extensions regarding sleep features; and illustrates how the temporo-spatial organization of beta oscillations can be of significant help in directing towards dup15q diagnosis hypothesis.

Safety considerations selecting antiseizure medications for the treatment of individuals with Dravet syndrome.

Introduction: Management of individuals with Dravet Syndrome has evolved significantly over the past 10 years. Progress has been made in understanding the pathophysiology, the long-term outcome and possible consequences of inappropriate therapies, new drugs have been approved by the regulatory authorities and patients and families expressed their needs beyond seizures' control.Areas covered: The authors aimed at providing an overview of the main antiseizure medications used in Dravet syndrome with a particular focus on safety considerations. As the highly active phase of seizures takes place before the age of 5 years, the characteristics of antiseizure medications in infancy and childhood have also been considered due to their impact on antiseizure medication safety.Expert opinion: Recent treatments, evaluated via randomized clinical trials, are promising in terms of efficacy and safety in individuals with DS. However, the balance between expected benefits and risks taken must be accurately assessed on an individual basis. There is a lack of data to understand the needs of patients and families, a major point particularly in this population, where the evaluation of efficacy and safety beyond seizures is difficult due to cognitive delay and behavioral disorders and where this evaluation is coming almost exclusively from caregivers.