Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy.

BACKGROUND: Sleep deprivation commonly increases seizure frequency in patients with genetic generalized epilepsy, though it is unknown whether there is an increased prevalence of sleepwalking or sleep paralysis in genetic generalized epilepsy patients. Establishing this could provide insights into the bio-mechanisms or genetic architecture of both disorders. The aim of this study was to determine the prevalence of sleepwalking and sleep paralysis in a cohort of patients with genetic generalized epilepsy and their relatives in extended families. METHODS: A structured interview based on International League Against Epilepsy (ILAE) and International Classification of Sleep Disorders (ICSD-3) criteria was applied to 67 index cases and their relatives to determine genetic generalized epilepsy subtypes and assess the occurrence of sleepwalking or sleep paralysis. Bivariate analysis was performed using chi-square and Fisher exact tests. RESULTS: The prevalence of sleepwalking and sleep paralysis was 15.3% (95% confidence interval 12.1-18.9) and 11.7% (95% confidence interval 8.7-15.3), respectively. Unusually, no sleepwalkers were found among individuals displaying epilepsy with generalized tonic-clonic seizures. Approximately a quarter of the patients had either parasomnia or genetic generalized epilepsy. Over half the genetic generalized epilepsy families had at least 1 individual with sleepwalking, and more than 40% of the families had one individual with sleep paralysis. CONCLUSION: The prevalence of sleepwalking or sleep paralysis is reported for individuals with genetic generalized epilepsy and their relatives. The co-existence of either parasomnia in the genetic generalized epilepsy patients and the co-aggregation within their families let suggest that shared heritability and pathophysiological mechanisms exist between these disorders. We hypothesize that sleepwalking/sleep paralysis and genetic generalized epilepsy could be variable expression of genes in shared pathways.

Nonconvulsive Seizure Detection by Reduced-Lead Electroencephalography in Children with Altered Mental Status in the Emergency Department.

OBJECTIVES: To evaluate the proportion of children presenting to the emergency department (ED) with altered mental status who demonstrate nonconvulsive seizures on reduced-lead electroencephalography (EEG), and to further investigate the characteristics, treatment, and outcomes in these patients compared with patients without nonconvulsive seizures. STUDY DESIGN: In this retrospective cohort study, we reviewed the database and medical records of pediatric patients (aged <18 years) in a single ED between May 1, 2016, and April 30, 2018. We first determined the proportion of nonconvulsive seizures among patients with altered mental status (Glasgow Coma Scale <15). We then compared the clinical presentation, demographic data, clinical diagnosis, EEG results, treatment, and outcomes of patients with altered mental status with nonconvulsive seizures and those without nonconvulsive seizures. RESULTS: In total, 16.9% of the patients with altered mental status (41 of 242; 95% CI, 12.2%-21.6%) evaluated by EEG had detectable nonconvulsive seizure, equivalent to 4.4% (41 of 932) of all patients with altered mental status presenting at our hospital. More than 80% of patients monitored for nonconvulsive seizures had a previous history of seizures, often febrile. Patients with nonconvulsive seizures were older (median, 68.5 vs 36.1 months) and had a higher Pediatric Cerebral Performance Category score at presentation (median, 2.0 vs 1.0). In addition, the proportion of patients admitted to the intensive care unit was significantly higher in the patients with nonconvulsive seizures (30.3% vs 15.0%). However, total duration of hospitalization, neurologic sequelae, and 30-day mortality rate did not differ between the 2 groups. CONCLUSIONS: A relatively high percentage of pediatric patients with altered mental status in the ED experience nonconvulsive seizures. The use of reduced-lead EEG monitoring in the ED might facilitate the recognition and treatment of nonconvulsive seizures, especially among patients with a history of seizures.

Are adverse effects of antiepileptic drugs different in symptomatic partial and idiopathic generalized epilepsies? The Portuguese-Brazilian validation of the Liverpool Adverse Events Profile.

We report the results of administration of the Portuguese-Brazilian translation of the Liverpool Adverse Events Profile (LAEP) to 100 patients (mean age=34.5, SD=12.12; 56 females), 61 with symptomatic partial epilepsy (SPE) and 39 with idiopathic generalized epilepsy (IGE) (ILAE, 1989) who were on a stable antiepileptic drug (AED) regimen and being treated in a Brazilian tertiary epilepsy center. Carbamazepine was the most commonly used AED (43.0%), followed by valproic acid (32.0%). Two or more AEDs were used by 69.0% of patients. The mean LAEP score (19 questions) was 37.6 (SD=13.35). The most common adverse effects were sleepiness (35.0%), memory problems (35.0%), and difficulty in concentrating (25.0%). Higher LAEP scores were associated with polytherapy with three or more AEDs (P=0.005), female gender (P<0.001), older age (P<0.001), and uncontrolled seizures (P=0.045). The intraclass coefficient (test-retest reliability) for LAEP overall score was 0.848 (95% CI=0.782-0.895), with a range from 0.370 (unsteadiness) to 0.750 (memory problems). Cronbach's α coefficient (internal consistency) was 0.903. The LAEP was highly correlated with Quality of Life in Epilepsy-31 inventory (r=-0.804, P>0.001) and Hospital Anxiety and Depression Scale (Depression: r=0.637, P<0.001; Anxiety: r=0.621, P<0.001) dimensions. LAEP overall scores were similar in people with SPE and IGE and were not helpful in differentiating adverse effects in these two groups. Clinical variables that influenced global LAEP were seizure frequency (P=0.050) and generalized tonic-clonic seizures in the last month (P=0.031) in the IGE group, and polytherapy with three or more AEDs (P=0.003 and P=0.003) in both IGE and SPE groups.

Chronic intermittent vagal nerve stimulation in the treatment of refractory epilepsy: experience in Mexico with 35 cases.

BACKGROUND: The role of vagal nerve stimulation (VNS) in the treatment of refractory epilepsy is still evolving and requires precision through extensive description of acute and chronic results, adverse effects and complications in specific populations. METHODS: We selected patients with refractory epilepsy subjected to VNS who had completed at least a 12-month followup. Descriptive and inferential statistics were used to review and assess the effects of VNS on seizure frequency/intensity, memory, alertness, mood, postictal recovery, and quality of life (subjective scale, QoL IE-31 inventory) as well as factors (gender, age, age of onset, time of surgery, stimulation parameters, seizure frequency and type) associated with clinical response. We describe stimulation parameters, complications and adverse effects compared to other series. RESULTS: We selected 35 patients with an age range of 5-48 years; 18 patients presented partial epilepsy and 17 generalized epilepsy. All procedures and wound healing were uneventful, and no infections were reported. Median reduction in seizure frequency was 55.65% (p <0.001). Four patients showed improvement of >90%. Two patients became seizure free, whereas seizure frequency increased in two patients. The subjectively qualified response to treatment was good in 33 patients. The mean global increase in the QoLIE-31 Scale was 12.6 (p = 0.020). Improvements in memory, mood, alertness and postictal recovery period were documented. Only seizure type showed statistically significant association with clinical response. Adverse effects were transitory and responded to changes in stimulation parameters. CONCLUSIONS: VNS is a safe, feasible, well-tolerated and effective palliative treatment in appropriately selected cases of refractory partial and multifocal generalized seizures.

Estimulación crónica intermitente del nervio vago en el tratamiento de epilepsia refractaria: experiencia en México con 35 casos / Chronic intermittent vagal nerve stimulation in the treatment of refractory epilepsy: experience in Mexico with 35 cases

Introducción: El papel de la estimulación crónica intermitente del nervio vago (ECINV) en el tratamiento de la epilepsia refractaria está evolucionando y requiere precisarse mediante la descripción de resultados, efectos adversos y complicaciones en poblaciones específicas. Material y métodos: Se seleccionaron los pacientes con epilepsia refractaria sometidos a ECINV con mínimo 12 meses de seguimiento, utilizando estadística descriptiva e inferencial para valorar el efecto sobre la frecuencia e intensidad de las crisis, memoria, ánimo, estado de alerta, recuperación postictal y calidad de vida (escala subjetiva, cuestionario QoLIE-31), y los factores (sexo, edad, tiempo de evolución, número/tipo crisis, parámetros de estimulación) asociados a la respuesta clínica. Se describen los parámetros de estimulación usados, empleo del magneto, complicaciones y efectos adversos. Resultados: Se seleccionaron 35 pacientes, edad de cinco a 48 años, 18 con epilepsia parcial, 17 con generalizada. No hubo complicaciones, infección o alteración de la cicatrización en los procedimientos quirúrgicos. La reducción promedio en crisis fue de 55.65 % (p < 0.001). En epilepsias generalizadas hubo 58.8 % de respondedores y 88.9 % en parciales. Cuatro sujetos presentaron mejoría > 90 %, con control total; en dos pacientes aumentó la frecuencia de las crisis. La respuesta al tratamiento fue buena subjetivamente en 33 pacientes. La calificación global de QoLIE-31 aumentó 12.6 puntos (p = 0.020). Solo el tipo de crisis se asoció con la respuesta clínica. Los efectos adversos fueron transitorios y respondieron al cambio de parámetros de estimulación. Conclusiones: la ECINV es segura, bien tolerada y eficaz para el tratamiento paliativo en casos seleccionados de crisis parciales y generalizadas multifocales refractarias.

BACKGROUND: The role of vagal nerve stimulation (VNS) in the treatment of refractory epilepsy is still evolving and requires precision through extensive description of acute and chronic results, adverse effects and complications in specific populations. METHODS: We selected patients with refractory epilepsy subjected to VNS who had completed at least a 12-month followup. Descriptive and inferential statistics were used to review and assess the effects of VNS on seizure frequency/intensity, memory, alertness, mood, postictal recovery, and quality of life (subjective scale, QoL IE-31 inventory) as well as factors (gender, age, age of onset, time of surgery, stimulation parameters, seizure frequency and type) associated with clinical response. We describe stimulation parameters, complications and adverse effects compared to other series. RESULTS: We selected 35 patients with an age range of 5-48 years; 18 patients presented partial epilepsy and 17 generalized epilepsy. All procedures and wound healing were uneventful, and no infections were reported. Median reduction in seizure frequency was 55.65% (p <0.001). Four patients showed improvement of >90%. Two patients became seizure free, whereas seizure frequency increased in two patients. The subjectively qualified response to treatment was good in 33 patients. The mean global increase in the QoLIE-31 Scale was 12.6 (p = 0.020). Improvements in memory, mood, alertness and postictal recovery period were documented. Only seizure type showed statistically significant association with clinical response. Adverse effects were transitory and responded to changes in stimulation parameters. CONCLUSIONS: VNS is a safe, feasible, well-tolerated and effective palliative treatment in appropriately selected cases of refractory partial and multifocal generalized seizures.

Parkinsonism induced by VNS in a child with double-cortex syndrome.

We describe a child with epilepsy associated with double-cortex syndrome in whom vagus nerve stimulation (VNS) generated parkinsonian symptoms. A 13-year-old girl presented with refractory secondary generalized epilepsy from the age of 6 years and mental retardation. Her electroencephalography (EEG) showed diffuse polyspike and wave discharges. Magnetic resonance imaging (MRI) showed double-cortex syndrome. She was submitted to extended callosal section at the age of 10 years, which yielded 50% seizure frequency reduction. She was submitted to VNS by the age of 12 years. As stimulation intensity was increased, there was appearance of extrapyramidal symptoms: She developed bilateral tremor and rigidity, and gait and postural disturbance. All symptoms disappeared 7-10 days after VNS was turned off. Several attempts to reactivate VNS led to the same results. During the periods when VNS was on she presented with marked seizure frequency reduction. This is the first report of a clinically evident direct effect of VNS on the basal ganglia.

Nonepileptic disorders imitating generalized idiopathic epilepsies.

Differential diagnosis between epileptic and nonepileptic paroxysmal disorders is fundamental not only to allow correct management of patients but also to avoid the burden of unnecessary antiepileptic medication. The focus of this chapter is limited to imitators of idiopathic generalized epilepsies (IGE) which are expressed through myoclonic, tonic-clonic, tonic, atonic, and absence seizures. Apparent losses of consciousness and drop attacks also have to be considered. Benign myoclonus of early infancy is the main nonepileptic disorder in the differential diagnosis of infantile spasms, but is not dealt with here because West syndrome is not an IGE. Hyperekplexia, metabolic disorders, hypnagogic myoclonus, and disturbed responsiveness caused by the use of drugs are listed in Table 1. Other conditions that may imitate more focal epileptic seizures are omitted. Benign neonatal sleep myoclonus, apnea and apparent life-threatening events in infants, cyanotic and pallid breath-holding spells, syncope, staring spells, psychogenic seizures, hyperventilation syndrome, and narcolepsy have been selected based on frequency or difficulties in differential diagnosis with the intention to cover the most conspicuous imitators of IGE in different ages.

Epilepsy, cysticercosis, and toxocariasis: a population-based case-control study in rural Bolivia.

OBJECTIVE: To assess the relationship between epilepsy and infection with Taenia solium and Toxocara canis with a case-control study, in the rural area of the Cordillera Province, Bolivia. METHODS: A preliminary two-phase door-to-door prevalence survey determined the prevalence of epilepsy and identified cases and control subjects. At least two control subjects per case were selected, matching on sex, age, and community of residence. Cases and control subjects were assessed serologically for antibodies against T. canis by ELISA and against T. solium by enzyme-linked immunoelectrotransfer blot (EITB). RESULTS: The prevalence survey found 130 confirmed cases of epilepsy, of which 113 were eligible for the case-control study (59 partial seizures and 54 generalized seizures). Two hundred thirty-three control subjects were selected. Multivariable analysis for a matched case-control study was carried out. There was an association between EITB positivity for T. solium and epilepsy with an OR of 1.85 (95% CI 0.99 to 3.4) for all cases. A stronger association was found in those with partial epilepsy with a late onset of disease (15 years and older), where the OR was 3.66 (95% CI 1.10 to 12.10). A positive association was also found with T. canis for all cases with an OR of 2.70 (95% CI 1.41 to 5.19). This increased for those with late-onset partial epilepsy to an OR of 18.22 (95% CI 2.10 to 158.10). CONCLUSION: This finding suggests that both neurocysticercosis and toxocariasis may in part explain the higher prevalence of epilepsy, particularly partial epilepsy, in developing countries.

Prevalence of epilepsy in rural Bolivia: a door-to-door survey.

OBJECTIVE: To carry out a door-to-door survey in rural areas of the Cordillera Province, Santa Cruz Department, Bolivia, to determine the prevalence of neurologic diseases (epilepsy, stroke, parkinsonism, and peripheral neuropathy) in a sample of approximately 10,000 inhabitants. METHODS: A team of nondoctor health workers administered a standard screening instrument for neurologic diseases-a slightly modified version of the World Health Organization protocol. All subjects found positive during the screening underwent a neurologic examination. RESULTS: On screening, the authors found 1,130 positive subjects, of whom 1,027 were then investigated by neurologists. On the basis of the definition proposed by the International League Against Epilepsy, we detected 124 epileptic patients (prevalence, 12.3/1,000), 112 of whom had active epilepsy (prevalence, 11.1/1,000) on the prevalence day (November 1, 1994). Peak age-specific prevalence occurred in the 15 to 24-year age group (20.4/1,000). Sex-specific prevalence was higher in women (13.1/1,000) than men (11.4/1,000). Eighty-nine patients (71.8%) underwent a standard EEG recording. Considering both EEG and clinical data, partial seizures were the most common type (53.2%) based on the classification of the International League Against Epilepsy. The mean age at onset was 20.7 years for partial seizures and 13.6 years for generalized seizures. Only 10.5% of patients had received specific treatment for more than 2 months of their life. CONCLUSION: This report on epilepsy prevalence in Bolivia confirms that epilepsy is a major health problem in rural areas of developing countries.

[Antiochian genealogies in which idiopathic epilepsy presents familial conglomeration. Simulations of power for the detection of genetic linkage]. / Genealogías antioqueñas en las que la epilepsia idiopática presenta conglomeración familiar. Simulaciones de poder para detectar ligamiento genético.

OBJECTIVE AND METHODS: We have analyzed a set of multigenerational extended pedigrees ascertained from affected cases of idiopathic epilepsy in the Antioquian Neurologic Institute. All pedigrees show familial aggregation of several forms of non myoclonic idiopathic epilepsy. In a recent paper, we have demonstrated that generalized idiopathic epilepsy of the awakening type is better explained by the existence of a major gene. In this paper, we have explored by simulation techniques the usefulness of the bigger pedigrees for linkage analysis. By using simlink and taking into account the parameters of the major gene, we have estimated that total power of three families is approximately 100 million times favoring the linkage detection. RESULTS AND CONCLUSIONS: These analyses suggest that the major gene accounting by the susceptibility to develop generalized idiopathic epilepsy of the awakening type could be localized by typifying affected families belonging to the Paisa community from Antioquia, Colombia (Acta Neurol Colomb 1997; 13: 69-75).

Complex segregation analysis of non-myoclonic idiopathic generalized epilepsy in families ascertained from probands affected with idiopathic epilepsy with tonic-clonic seizures in Antioquia, Colombia.

In an attempt to identify the possible role of major genes, multifactorial inheritance, and cohort effects in the susceptibility to idiopathic epilepsy with generalized tonic-clonic seizures of the awakening type (GTCS), complex segregation analysis was performed in 196 nuclear families ascertained through affected probands with idiopathic epilepsy with GTCS belonging to the Paisa community of Antioquia (Colombia). Models postulating no transmission, single major locus (dominant and recessive) only, and multifactorial component only, were rejected. Since the codominant single major locus model could not be rejected and models that assign no major locus to transmission, no polygenic component to transmission, and no transmission of the major effect were rejected, complex segregation analysis suggested that a major autosomal codominant allele together with a multifactorial component (mixed model) best explained clustering of idiopathic epilepsy with GTCS in families of the Paisa community. The deficit of transmission of heterozygotes (0.17) is compatible with the existence of epistasis acting on a major gene whose frequency was estimated to be 0.0211. Its transmission variance accounts for 81% of the susceptibility to idiopathic epilepsy with GTCS. The complementary variance (19%) is due to the polygenic component.

A descriptive study of epilepsy in the district of El Salvador, Chile, 1984-1988.

To describe the epidemiological characteristics of epilepsy in a northern area of Chile, an investigation was conducted in four localities in the province of Copiapó (population of 17,694). Based on 314 cases of active epilepsy, the prevalence per 1000 at June 30, 1988 was 17.7. The average annual incidence for the period 1984-1988 was 113 per 100,000. Partial seizures were the most frequent type of seizure diagnosed (54.1%). Antecedents considered as possible etiological factors were found in 29.9% of cases. According to age of onset, 64.6% had their first attack before 15 years. Middle and low socioeconomic classes had higher prevalence rates of epilepsy. We compare our results with previous Latin-American studies.