Eyelid myoclonia with absences: Electroclinical features and prognostic factors.

OBJECTIVE: Eyelid myoclonia with absences (EMA) is a syndrome characterized by eyelid myoclonia with or without absences, eye closure-induced generalized electroencephalographic (EEG) paroxysms and photosensitivity. Few data are available about the prognostic factors of this syndrome. The main objectives of our study were to describe the clinical and EEG features of a group of patients with EMA and to evaluate the presence of prognostic factors. METHODS: We retrospectively selected a cohort of patients with diagnosis of EMA evaluated in the epilepsy service of the Neurological Clinic of Catania, in the Neurology and Clinical Neurophysiopathology Unit of Oasi Research Institute, Troina and in the Regional Epilepsy Centre of Bianchi-Melacrino-Morelli Hospital of Reggio Calabria. We considered the features of the patients during the first year of disease, and at the last follow-up visit. We stratified the patients into two groups: "seizure-free", defined as the absence of seizures for at least 2 years, and "not seizure-free" and we evaluated the evolution of their characteristics and the presence of factors associated with outcome. RESULTS: We enrolled 51 patients (40 women (78%); mean age: 30.8 years ± 15.5 [range 10-79]). The mean follow-up time was 8.7 ± 5.8 years. Eleven patients (21.6%) achieved the condition of seizure-free. Family history of epilepsy was associated with the condition of seizure-free (P = 0.05). At the last follow-up visit, EEG photosensitivity and eye closure sensitivity were significantly associated with the condition of "not seizure-free". SIGNIFICANCE: The results of our study revealed that a positive family history of epilepsy might be associated with a better outcome in EMA. Furthermore, the persistence of photosensitivity and eye closure sensitivity might indicate persistence of seizures, offering an aid in therapeutic management.

Impulsivity traits in eyelid myoclonia with absences.

PURPOSE: Eyelid myoclonia with absences (EMA) shares some clinical characteristics with juvenile myoclonic epilepsy (JME), in which impulsivity traits have been described. Aim of the study was to evaluate whether EMA patients could present a peculiar behavioural profile. METHODS: Patients with EMA, JME and healthy controls (HCs) were enrolled. Subjects with intellectual quotient <80 were excluded from the study. All the enrolled subjects underwent the Italian version of the Barratt Impulsiveness Scale (BIS-11) and the three dimensions of impulsivity (motor, attentional-cognitive and nonplanning impulsivity) were considered. RESULTS: Seventeen patients with EMA (12 females [70.6%], age 30.8±10 years), 29 patients with JME (17 females [58.6%], age 29.1±9.7 years) and 31 HCs (15 females [48.4%], age 27.6±5.8 years) were enrolled. Both EMA and JME patients presented a borderline significantly higher BIS total score than HCs (p=0.064). EMA patients presented a significantly higher BIS nonplanning subscore than JME patients and HCs (p=0.001). CONCLUSION: The study showed the presence of peculiar behavioral characteristics in EMA patients, slightly different from patients with JME.

Ictal hypoxemia: A systematic review and meta-analysis.

PURPOSE: To estimate the incidence of ictal hypoxemia (IH) and to identify clinical and study-related factors modulating the estimate. METHODS: We searched articles recording concurrent peri-ictal and ictal EEG and Sp02 in adults and children with epilepsy. Studies reporting the total number of seizures recorded and the number of seizures with IH were included in a random-effects meta-analysis. A random-effects meta-regression was used to identify variables affecting study heterogeneity. RESULTS: Twenty-one studies, including 917 participants and 1840 with SpO2 data available were included. The meta-analysis showed a pooled incidence of IH of 35/100 seizures (95% CI 27-44). Sp02 desaturation threshold was associated with the incidence of IH, with less severe desaturations resulting in higher IH frequencies. The incidence of IH was 41/100 seizures (95% CI 29-54) for adults and 47/100 seizures (95% CI 15-78) for tonic-clonic seizures. The meta-regression showed that SpO2 desaturation severity was the sole variable significantly correlated with the incidence of ictal hypoxemia (p = 0.00). CONCLUSION: In a population with refractory epilepsy IH is a frequent phenomenon, especially in adults and in patients presenting with tonic-clonic seizures. The severity of IH appeared independent from the age group and from seizure type and is probably the major clinical concern for its correlation with potentially life-threatening cardiorespiratory alterations and sudden unexpected death in epilepsy (SUDEP).