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1.
Epileptic Disord ; 21(2): 185-191, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30977726

RESUMO

Epilepsy with auditory features (EAF) is a focal epilepsy syndrome characterized by prominent auditory ictal manifestations. Two main genes, LGI1 and RELN, have been implicated in EAF, but the genetic aetiology remains unknown in half of families and most sporadic cases. We previously described a pathogenic SCN1A missense variant (p.Thr956Met) segregating in a large family in which the proband and her affected daughter had EAF, thus satisfying the minimum requirement for diagnosis of autosomal dominant EAF (ADEAF). However, the remaining eight affected family members had clinical manifestations typically found in families with genetic epilepsy with febrile seizures plus (GEFS+). We aimed to investigate the role/impact of SCN1A mutations in EAF. We detailed the phenotype of this family and report on SCN1A screening in a cohort of 29 familial and 52 sporadic LGI1 variant-negative EAF patients. We identified two possibly pathogenic missense variants (p.Tyr790Phe and p.Thr140Ile) in sporadic patients (3.8%) showing typical EAF and no antecedent febrile seizures. Both p.Thr956Met and p.Tyr790Phe were previously described in unrelated patients with epilepsies within the GEFS+ spectrum. SCN1A mutations may be involved in EAF within the GEFS+ spectrum, however, the role of SCN1A in EAF without features that lead to a suspicion of underlying GEFS+ remains unclear and should be elucidated in future studies.


Assuntos
Transtornos da Percepção Auditiva , Epilepsias Parciais , Epilepsia Generalizada , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Convulsões Febris , Adulto , Idoso , Transtornos da Percepção Auditiva/etiologia , Transtornos da Percepção Auditiva/genética , Transtornos da Percepção Auditiva/fisiopatologia , Epilepsias Parciais/complicações , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Convulsões Febris/complicações , Convulsões Febris/genética , Convulsões Febris/fisiopatologia
2.
Neurology ; 92(3): e183-e193, 2019 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-30568004

RESUMO

OBJECTIVE: To analyze the factors that determine the occurrence or severity of postictal hypoxemia in the immediate aftermath of a generalized convulsive seizure (GCS). METHODS: We reviewed the video-EEG recordings of 1,006 patients with drug-resistant focal epilepsy included in the REPO2MSE study to identify those with ≥1 GCS and pulse oximetry (SpO2) measurement. Factors determining recovery of SpO2 ≥ 90% were investigated using Cox proportional hazards models. Association between SpO2 nadir and person- or seizure-specific variables was analyzed after correction for individual effects and the varying number of seizures. RESULTS: A total of 107 GCS in 73 patients were analyzed. A transient hypoxemia was observed in 92 GCS (86%). Rate of GCS with SpO2 <70% dropped from 40% to 21% when oxygen was administered early (p = 0.046). Early recovery of SpO2 ≥90% was associated with early administration of oxygen (p = 0.004), absence of postictal generalized EEG suppression (PGES) (p = 0.014), and extratemporal lobe epilepsy (p = 0.001). Lack of early administration of O2 (p = 0.003), occurrence of PGES (p = 0.018), and occurrence of ictal hypoxemia during the focal phase (p = 0.022) were associated with lower SpO2 nadir. CONCLUSION: Postictal hypoxemia was observed in the immediate aftermath of nearly all GCS but administration of oxygen had a strong preventive effect. Severity of postictal hypoxemia was greater in temporal lobe epilepsy and when hypoxemia was already observed before the onset of secondary GCS.


Assuntos
Epilepsia Generalizada/complicações , Oxigenação Hiperbárica/métodos , Hipóxia/etiologia , Hipóxia/terapia , Resultado do Tratamento , Adulto , Eletroencefalografia , Epilepsia Generalizada/diagnóstico por imagem , Feminino , Humanos , Hipóxia/diagnóstico , Masculino , Pessoa de Meia-Idade , Oximetria , Tomografia por Emissão de Pósitrons , Estudos Prospectivos , Fatores de Risco , Tomografia Computadorizada de Emissão de Fóton Único , Gravação em Vídeo , Adulto Jovem
3.
Epileptic Disord ; 20(6): 479-489, 2018 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-30530446

RESUMO

To determine the electroclinical features of fixation-off sensitivity (FOS) in patients with idiopathic generalized epilepsy (IGE). We searched the EEG database using the terms "fixation-off sensitivity" and "idiopathic generalized epilepsy" over a four-year period from March 2014 to April 2018 in the Xijing Hospital, Xi'an, China. FOS was evaluated according to the technique proposed by Panayiotopoulos. Photic stimulation procedure and neuropsychological testing were performed during video-EEG monitoring. FOS was observed in eight patients with several different IGE syndromes, including four with eyelid myoclonia/Jeavons syndrome, two with juvenile myoclonic epilepsy, one with photosensitivity epilepsy, and one with epilepsy with generalized tonic-clonic seizures only. FOS was associated with seizures in five patients manifesting with eyelid myoclonic, myoclonic, and myoclonic-tonic-clonic seizures, and eyelid myoclonic status. FOS coexisted with photosensitivity in six patients as independent EEG features. Neuropsychological testing revealed transitory cognitive impairments associated with FOS. FOS is associated with several different IGE syndromes and may coexist with photosensitivity in the same patient as independent EEG features. FOS may be associated with both clinical seizures and cognitive impairments. Intermittent photic stimulation and registration of different eye conditions with and without fixation will aid the study of the dynamics of the visual system in epilepsy patients. [Published with video sequences on www.epilepticdisorders.com].


Assuntos
Encéfalo/fisiopatologia , Disfunção Cognitiva/complicações , Epilepsia Generalizada/fisiopatologia , Epilepsia Reflexa/fisiopatologia , Adolescente , Criança , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/psicologia , Eletroencefalografia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/psicologia , Epilepsia Reflexa/complicações , Epilepsia Reflexa/psicologia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Estimulação Luminosa
4.
J Neurosurg Pediatr ; 23(3): 303-307, 2018 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-30579267

RESUMO

Corpus callosotomy has been used as a form of surgical palliation for patients suffering from medically refractory generalized seizures, including drop attacks. Callosotomy has traditionally been described as involving a craniotomy with microdissection. MR-guided laser interstitial thermal therapy (MRg-LITT) has recently been used as a minimally invasive method for performing surgical ablation of epileptogenic foci and corpus callosotomy. The authors present 3 cases in which MRg-LITT was used to perform a corpus callosotomy as part of a staged surgical procedure for a patient with multiple seizure types and in instances when further ablation of residual corpus callosum is necessary after a prior open surgical procedure. To the authors' knowledge, this is the first case series of corpus callosotomy performed using the MRg-LITT system with a 3.3-year average follow-up. Although MRg-LITT is not expected to replace the traditional corpus callosotomy in all cases, it is a safe, effective, and durable alternative to the traditional open corpus callosotomy, particularly in the setting of a prior craniotomy.


Assuntos
Corpo Caloso/cirurgia , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia Generalizada/cirurgia , Terapia a Laser/métodos , Imagem por Ressonância Magnética Intervencionista/métodos , Síncope/cirurgia , Adolescente , Corpo Caloso/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/complicações , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsia Generalizada/complicações , Epilepsia Generalizada/tratamento farmacológico , Feminino , Hemisferectomia , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Procedimentos Cirúrgicos Robóticos/métodos , Síncope/etiologia , Resultado do Tratamento , Adulto Jovem
5.
Pediatr Ann ; 47(3): e130-e134, 2018 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-29538787

RESUMO

A 7-year-old girl with 20q13.33 deletion and a history of generalized convulsive epilepsy presented to the Developmental and Behavioral Pediatrics Clinic due to concerns about her behavioral outbursts in the context of overall delayed development. Evaluation by the Developmental and Behavioral and Gastroenterology teams revealed failure to thrive (FTT) as the primary cause of the behavioral outbursts and developed a high-calorie, high-fat, high-protein nutritional counseling plan. Children who have FTT and a genetic disorder are often thought to not thrive because of their underlying genetic disorder; however, feeding skills and nutritional intake need to be thoroughly investigated before determining an etiology for FTT. Motoric, communicative, and developmental skills in children with genetic disorders may impede appropriate feeding mechanisms, inducing or exaggerating FTT in these children with developmental disabilities due to genetic etiologies. [Pediatr Ann. 2018;47(3):e130-e134.].


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/complicações , Cromossomos Humanos Par 20 , Deficiências do Desenvolvimento/complicações , Epilepsia Generalizada/complicações , Insuficiência de Crescimento/diagnóstico , Comportamento Problema , Criança , Transtornos Cromossômicos/genética , Deficiências do Desenvolvimento/genética , Epilepsia Generalizada/genética , Insuficiência de Crescimento/etiologia , Insuficiência de Crescimento/psicologia , Feminino , Humanos , Desnutrição/diagnóstico , Desnutrição/etiologia , Desnutrição/psicologia , Síndrome
6.
Epilepsia ; 59(2): 389-402, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29315614

RESUMO

OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg). SIGNIFICANCE: Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.


Assuntos
Epilepsias Mioclônicas/fisiopatologia , Proteínas da Membrana Plasmática de Transporte de GABA/genética , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Ataxia/complicações , Ataxia/genética , Ataxia/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Epilepsias Parciais/complicações , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Estudos de Associação Genética , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Mutação , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Resultado do Tratamento , Ácido Valproico/uso terapêutico , Adulto Jovem
7.
J Korean Med Sci ; 33(3): e17, 2018 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-29215804

RESUMO

BACKGROUND: In this study, we aimed to identify cognitive function and neuropsychological comorbidities in children with newly diagnosed idiopathic epilepsy. METHODS: We retrospectively reviewed the records of 97 antiepileptic drug-naïve children (9.7 ± 2.9 years; 54 males and 43 females) with newly diagnosed idiopathic epilepsy, all of whom underwent a neuropsychological battery. The battery consisted of the Korean Wechsler Intelligence Scale, Attention Deficit Hyperactivity Disorder (ADHD) Rating Scale, ADHD Diagnostic System, Children's Depression Inventory, and State-Trait Anxiety Inventory for Children. We investigated association between scores of the neuropsychological battery and epilepsy classification, lateralization of interictal epileptiform discharges (IEDs) on electroencephalography (EEG), and variables related to seizures. RESULTS: Thirteen patients (14.3%) had ADHD symptoms. Three patients (4.1%) had depressive symptoms, and 9 (12.3%) had anxiety symptoms. Patients with idiopathic generalized epilepsy (IGE) had significantly lower full-scale intelligence and performance intelligence quotient scores than patients with idiopathic localization-related epilepsy (ILRE) (89.0 ± 17.6 vs. 96.3 ± 14.8; P = 0.030 and 88.9 ± 16.3 vs. 97.0 ± 16.4; P = 0.016, respectively). Patients with ILRE having unilateral IEDs had significantly higher full-scale intelligence quotient scores than patients with ILRE having bilateral IEDs and patients with IGE (99.9 ± 12.2 vs. 93.7 ± 16.1 vs. 89.0 ± 17.6; P = 0.039, respectively). CONCLUSION: Our results suggest that idiopathic epilepsy may be accompanied by various neuropsychological comorbidities even at initial diagnosis. Patients with IGE and ILRE having bilateral IEDs on EEG appear more likely to be at high risk of decreased cognitive function.


Assuntos
Cognição/fisiologia , Epilepsia Generalizada/diagnóstico , Adolescente , Ansiedade/complicações , Ansiedade/diagnóstico , Ansiedade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Transtorno Depressivo/complicações , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Inteligência , Imagem por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Estudos Retrospectivos
8.
Seizure ; 54: 41-44, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29223885

RESUMO

PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into the molecular pathology of GLUT1-DS that would strengthen the genotype-phenotype correlations and improve the diagnostic procedure. METHODS: We have performed sequencing analysis of the SLC2A1 gene in thirty-eight Bulgarian patients with different forms of GGE having emerged in childhood followed by array comparative genome (aCGH) hybridization in patients with severe forms of GLUT1-DS who display extraneurological features. RESULTS: We have detected three novel SLC2A1 gene mutations that are predicted to have different impacts on the GLUT1 protein structure and function - one being to cause the amino acid substitution p.H160Q, another leading to the truncation p.Q360*, and also a 1p34.2 microdeletion. The overall frequency of the SLC2A1 mutations in the studied group is 8.1%. They have been found in clinical cases that differ notably by their severity. CONCLUSION: Our study enriches the mutation spectrum of the SLC2A1 gene by 3 novel cases that reflect the genetic and phenotypic diversity of GLUT1-DS and brings new insights into the molecular pathology of that disorder. The clinical data showed that the SLC2A1 genetic defects should be considered equally in the entire range of the clinical manifestations of GGE paying attention to the extraneurological features. The aCGH analysis should be considered as an ultimate step during the diagnostic procedure of GLUT1-DS in patients with a complex clinical picture of intractable epilepsy involving neuropsychological impairments and accompanied by extraneurological features.


Assuntos
Erros Inatos do Metabolismo dos Carboidratos/complicações , Erros Inatos do Metabolismo dos Carboidratos/genética , Epilepsia Generalizada/complicações , Epilepsia Generalizada/genética , Variação Genética/genética , Transportador de Glucose Tipo 1/genética , Proteínas de Transporte de Monossacarídeos/deficiência , Adolescente , Bulgária , Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Criança , Hibridização Genômica Comparativa , Saúde da Família , Feminino , Humanos , Masculino , Modelos Moleculares , Proteínas de Transporte de Monossacarídeos/genética , Fenótipo
9.
Brain Dev ; 39(10): 828-835, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28712486

RESUMO

OBJECTIVE: To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS). METHODS: Thirty-three children were retrospectively recruited from approximately 42,814 video-electroencephalogram (VEEG) recordings monitored in our department over last nearly 10years. Myoclonic seizures (MS) must be identified by VEEG in all patients. The clinical, EEG features and outcome were analyzed among these patients. RESULTS: The 33 patients (25 boys and 8 girls) were divided into three groups: 11 patients with typical MEI; 16 patients with MEI experienced afebrile GTCS before MS onset; and 6 patients with MEI presented afebrile GTCS occurring concurrently with MS. No significant differences were found among the three groups, including gender distribution, family history, personal history of febrile seizures, the age at seizure onset and control, the duration of MS, the interval between age at onset and seizure control, the age at EEG normalization, the interval between seizure onset age and EEG normalization age and normal psychomotor development at the end of follow-up. More patients in group two and group three were controlled by two or three kinds of antiepileptic drugs compared with those in group one. CONCLUSIONS: In this study, three groups of patients had similar clinical, EEG features and outcome. Afebrile GTCS was associated with a stronger cortical hyperexcitability. It was worth considering whether MEI with preceding or concurrent afebrile GTCS should be recognized as subgroups or different epileptic syndromes independent of MEI.


Assuntos
Epilepsias Mioclônicas/etiologia , Epilepsias Mioclônicas/fisiopatologia , Convulsões/etiologia , Adolescente , Anticonvulsivantes/uso terapêutico , Grupo com Ancestrais do Continente Asiático/genética , Criança , Pré-Escolar , China , Eletroencefalografia/métodos , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsia Generalizada/complicações , Epilepsia Tônico-Clônica/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Convulsões/fisiopatologia , Convulsões Febris/tratamento farmacológico
11.
Lung ; 195(4): 477-487, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28455784

RESUMO

PURPOSE: Diffuse alveolar hemorrhage (DAH) with negative-pressure pulmonary edema (NPPE) is an uncommon yet life-threatening condition. We aimed at describing the circumstances, clinical, radiological, and bronchoscopic features, as well as the outcome of patients with NPPE-related DAH. METHODS: We performed a retrospective, observational cohort study, using data prospectively collected over 35 years in an intensive care unit (ICU). RESULTS: Of the 149 patients admitted for DAH, we identified 18 NPPE episodes in 15 patients, one admitted four times for recurrent NPPE-related DAH. The patients were primarily young, male, and athletic. The NPPE setting was postoperative (n = 12/18, 67%) or following generalized tonic-clonic seizures (n = 6/18, 33%). Hemoptysis was almost constant (n = 17/18, 94%), yet rarely massive (>200 cc, n = 1/18, 6%), with anemia observed in 10 (56%) episodes. The DAH triad (hemoptysis, anemia, and pulmonary infiltrates) was observed in 50% of episodes (n = 9/18), and acute respiratory failure in 94% (n = 17/18). Chest computed tomography revealed diffuse bilateral ground glass opacities (n = 10/10, 100%), while bronchoscopy detected bilateral hemorrhage (n = 12/12, 100%) and macroscopically bloody bronchoalveolar lavage, with siderophage absence in most (n = 7/8, 88%), indicating acute DAH. While one episode proved fatal, the other 17 recovered rapidly, with a mean ICU stay lasting 4.6 (2-15) days. Typically, the evolution was rapidly favorable under supportive care. CONCLUSION: NPPE-related DAH is a rare life-threatening condition occurring primarily after tonic-clonic generalized seizure or generalized anesthesia. Clinical circumstances are a key to its diagnosis. Early diagnosis and recognition likely allow for successful management of this potentially serious complication, whereas ictal-DAH appears ominous in epileptic patients.


Assuntos
Anestesia Geral/efeitos adversos , Epilepsia Generalizada/complicações , Epilepsia Tônico-Clônica/complicações , Hemorragia/etiologia , Edema Pulmonar/etiologia , Adolescente , Adulto , Anestesia Geral/mortalidade , Broncoscopia , Diagnóstico Diferencial , Diagnóstico Precoce , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/mortalidade , Epilepsia Tônico-Clônica/diagnóstico , Epilepsia Tônico-Clônica/mortalidade , Feminino , Hemoptise/etiologia , Hemorragia/diagnóstico , Hemorragia/mortalidade , Hemorragia/terapia , Humanos , Unidades de Terapia Intensiva , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Edema Pulmonar/diagnóstico , Edema Pulmonar/mortalidade , Edema Pulmonar/terapia , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto Jovem
12.
Epilepsy Behav ; 67: 7-12, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-28086190

RESUMO

OBJECTIVE: Attention difficulties are a common clinical complaint among children with epilepsy. We aimed to compare a range of attentional abilities between groups of children with two common epilepsy syndromes, Temporal Lobe Epilepsy (TLE) and Idiopathic Generalized Epilepsy (IGE), and to healthy controls. We also investigated whether epilepsy factors (laterality of seizure focus, epilepsy onset, duration, and severity) were related to attentional abilities. METHODS: Multiple dimensions of attention (selective, sustained, and divided attention and attentional control) were assessed directly with standardized neuropsychological measures in 101 children aged 6-16years (23 children with TLE, 20 with IGE and 58 healthy controls). Attention was also assessed indirectly, via a parent-report measure. RESULTS: Children with TLE performed worse than children with IGE (p=0.013) and healthy controls (p<0.001) on a test of attentional control, but no between-group differences were apparent on tests of other attentional abilities. Compared to healthy controls, greater attention problems were reported by parents of children with TLE (p=0.006) and IGE (p=0.012). Left-hemisphere seizure focus and greater epilepsy severity were associated with poorer attentional control and sustained-divided attention, respectively, but no other epilepsy factors were associated with attentional abilities. SIGNIFICANCE: These findings suggest that children with localization-related epilepsy, but not generalized epilepsy, may be at risk of deficits in attentional control. Interventions aimed at improving attentional control may be targeted at children with localization-related epilepsy, particularly those with a left-hemisphere seizure focus, who appear to be particularly susceptible to this type of attentional deficit.


Assuntos
Atenção/fisiologia , Epilepsia Generalizada/fisiopatologia , Epilepsia Generalizada/psicologia , Epilepsia do Lobo Temporal/fisiopatologia , Epilepsia do Lobo Temporal/psicologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Epilepsia Generalizada/complicações , Epilepsia do Lobo Temporal/complicações , Feminino , Lateralidade Funcional/fisiologia , Humanos , Masculino , Testes Neuropsicológicos
13.
Hum Brain Mapp ; 38(2): 957-973, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27726245

RESUMO

Idiopathic generalized epilepsy (IGE) has been linked with disrupted intra-network connectivity of multiple resting-state networks (RSNs); however, whether impairment is present in inter-network interactions between RSNs, remains largely unclear. Here, 50 patients with IGE characterized by generalized tonic-clonic seizures (GTCS) and 50 demographically matched healthy controls underwent resting-state fMRI scans. A dynamic method was implemented to investigate functional network connectivity (FNC) in patients with IGE-GTCS. Specifically, independent component analysis was first carried out to extract RSNs, and then sliding window correlation approach was employed to obtain dynamic FNC patterns. Finally, k-mean clustering was performed to characterize six discrete functional connectivity states, and state analysis was conducted to explore the potential alterations in FNC and other dynamic metrics. Our results revealed that state-specific FNC disruptions were observed in IGE-GTCS and the majority of aberrant functional connectivity manifested itself in default mode network. In addition, temporal metrics derived from state transition vectors were altered in patients including the total number of transitions across states and the mean dwell time, the fraction of time spent and the number of subjects in specific FNC state. Furthermore, the alterations were significantly correlated with disease duration and seizure frequency. It was also found that dynamic FNC could distinguish patients with IGE-GTCS from controls with an accuracy of 77.91% (P < 0.001). Taken together, this study not only provided novel insights into the pathophysiological mechanisms of IGE-GTCS but also suggested that the dynamic FNC analysis was a promising avenue to deepen our understanding of this disease. Hum Brain Mapp 38:957-973, 2017. © 2016 Wiley Periodicals, Inc.


Assuntos
Mapeamento Encefálico , Epilepsia Generalizada/patologia , Vias Neurais/patologia , Dinâmica não Linear , Convulsões/patologia , Adulto , Epilepsia Generalizada/complicações , Epilepsia Generalizada/diagnóstico por imagem , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imagem por Ressonância Magnética , Masculino , Modelos Neurológicos , Vias Neurais/diagnóstico por imagem , Oxigênio/sangue , Convulsões/complicações , Convulsões/diagnóstico por imagem , Convulsões/fisiopatologia , Adulto Jovem
14.
Eur J Neurol ; 24(3): 453-460, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28026919

RESUMO

BACKGROUND AND PURPOSE: Considered to be benign conditions, the common genetic generalized epilepsy (GGE) syndromes are now known to be frequently accompanied by cognitive dysfunction. However, unresolved issues impede clinical management of this common comorbidity, including which cognitive abilities are most affected, whether there are differences between syndromes and how seizure type and mood symptoms affect cognitive dysfunction. We provide a detailed description of cognitive ability and evaluate factors contributing to cognitive dysfunction. METHODS: A total of 76 adults with GGE were assessed with the Woodcock Johnson III Tests of Cognitive Abilities. RESULTS: Scores on tests of overall cognitive ability, acquired knowledge, long-term retrieval and speed of information processing were significantly below the normative mean. Long-term retrieval was a pronounced weakness with a large reduction in scores (d = 0.84). GGE syndrome, seizure type and the presence of recent psychopathology symptoms were not significantly associated with cognitive function. CONCLUSIONS: This study confirms previous meta-analytic findings with a prospective study, offers new insights into the cognitive comorbidity of these common epilepsy syndromes and reinforces the need for cognitive interventions in people with GGE.


Assuntos
Cognição , Epilepsia Generalizada/genética , Epilepsia Generalizada/psicologia , Testes Neuropsicológicos , Adolescente , Adulto , Epilepsia Generalizada/complicações , Síndromes Epilépticas , Feminino , Humanos , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/etiologia , Transtornos Mentais/psicologia , Processos Mentais , Rememoração Mental , Pessoa de Meia-Idade , Estudos Prospectivos , Valores de Referência , Reprodutibilidade dos Testes , Convulsões/fisiopatologia , Convulsões/psicologia , Adulto Jovem
15.
Epilepsy Behav ; 62: 297-303, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27544704

RESUMO

Reduced cognitive functioning has been documented in the genetic generalized epilepsies (GGE). Among a number of hypothesized causal mechanisms, some evidence from other epilepsy syndromes suggests the impact of epileptiform discharges. This study investigates the relationship between cognitive function in GGE and burden of epileptiform discharges within a 24-hour EEG recording, controlling for variables relevant to cognitive function in epilepsy. As part of a larger prospective cohort study, 69 patients with EEG-confirmed GGE (11-58years) underwent 24-hour EEG and detailed neuropsychological assessment using the Woodcock Johnson III Tests. Ten-second pages of the EEG were marked manually page-by-page on longitudinal bipolar montage with 0.5 to 70Hz bandwidth by an experienced EEG reader. Multiple regression analyses were conducted. Epileptiform discharges were detected in 90% of patients. Less than 0.01% of electrophysiological events of two or more seconds were recognized by patients. Regression analysis demonstrated that the cumulative duration of epileptiform discharges over a 24-hour period predicted overall cognitive ability and memory function, accounting for 9.6% and 11.8% of adjusted variance, respectively. None of the epilepsy covariates included in multiple regression analysis added significantly to the model. Duration of epileptiform discharges negatively predicts overall cognitive ability and memory function, even after accounting for other known determinants of cognition. Prolonged epileptiform discharges are common and remain unreported by patients, raising important questions regarding the management of GGE syndromes and their associated comorbidities. Further research is required to investigate causal mechanisms if we are to improve cognitive outcomes in this common group of epilepsies.


Assuntos
Cognição/fisiologia , Disfunção Cognitiva/etiologia , Epilepsia Generalizada/complicações , Convulsões/complicações , Adolescente , Adulto , Criança , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/psicologia , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Epilepsia Generalizada/psicologia , Feminino , Humanos , Masculino , Memória/fisiologia , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estudos Prospectivos , Convulsões/fisiopatologia , Convulsões/psicologia , Adulto Jovem
16.
Acta Neurol Taiwan ; 25(1): 33-7, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27411798

RESUMO

PURPOSE: The immediate complications associated with a generalized tonic-clonic (GTC) seizure usually involve injuries such as aspiration pneumonia, head injury, skull or vertebral fracture and orolingual biting injury. Here we present a young man who suffered from GTC that was followed by a rare complication, acute diffuse pulmonary hemorrhage, which presented with massive hemoptysis and subsequent respiratory failure. CASE REPORT: An 18-year-old boy developed a GTC convulsion that lasted for about two minutes and then regained consciousness 15 minutes later. Another GTC convulsion occurred four hours later for about two minutes. Upon admission, coughing with blood clots was noted and was initially imputed to a bite wound affecting the tongue. However, massive hemoptysis developed soon after. A chest X-ray showed diffuse consolidation of the bilateral lungs. He was transferred to the intensive care unit and was intubated immediately owing to acute respiratory failure. A further chest CT also showed extensive consolidation of the bilateral lungs, mainly in the central and posterior portions. Bronchoscopy showed diffuse tracheal and bronchial erythematous mucosa and post-hemorrhage changes. Laboratory surveys for autoimmune disease, infectious disease, tuberculosis and intoxication gave normal results. After treatment with anticonvulsants, antibiotics and corticosteroids, he was stabilized and extubated on the 5th day of hospitalization. CONCLUSION: The disease entity of acute diffuse pulmonary hemorrhage is similar to neurogenic pulmonary edema. Physicians should be aware of this extremely rare but life-threatening complication, namely seizure-related acute diffuse pulmonary hemorrhage. The patient's response to respiratory support and corticosteroid is usually quite satisfactory.


Assuntos
Epilepsia Generalizada/complicações , Hemorragia/etiologia , Pneumopatias/etiologia , Doença Aguda , Adolescente , Humanos , Masculino
17.
Epilepsy Behav ; 61: 158-161, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27351726

RESUMO

OBJECTIVE: The objectives of this study were to determine the incidence of peri-ictal prone position in patients with generalized convulsive seizures (GCS) and to further assess the risk of sudden unexpected death in epilepsy (SUDEP) associated with the prone position. METHOD: We retrospectively reviewed the video-EEG data of 308 GCS in 193 patients who underwent long-term video-EEG monitoring in two epilepsy centers. We determined the peri-ictal (preictal, ictal, and/or postictal) body positions. RESULTS: A peri-ictal prone position was observed in 12 (6.2%) of 193 patients and 13 (4.2%) of 308 GCS. In 5 (1.6%) of 308 GCS, patients in nonprone positions at seizure onset turned into the prone position during versive seizures. In 8 (2.6%) of 308 GCS, patients were sleeping prone at seizure onset. Peri-ictal intervention with body repositioning was provided in 11 of 12 patients and 12 of the 13 GCS. Repositioning was not provided during the remaining seizure; the patient died in the prone position. In the subset of 96 GCS without ictal intervention, patients in a supine position at seizure onset remained in the supine position at seizure termination in 57 (98.3%) of 58 GCS. Patients sleeping prone at seizure onset remained in the prone position at seizure termination in 4 (80%) of 5 GCS. CONCLUSION: Our data suggest that the incidence of peri-ictal prone position in patients with GCS is low. Both prone sleeping and forced ictal version may result in postictal prone position. Although avoiding prone sleeping may reduce the SUDEP risk, influencing forced ictal version may be difficult in the absence of supervision.


Assuntos
Epilepsia Generalizada/complicações , Epilepsia Generalizada/epidemiologia , Decúbito Ventral , Convulsões/epidemiologia , Convulsões/etiologia , Adolescente , Adulto , Idade de Início , Eletroencefalografia , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Convulsões/fisiopatologia , Sono , Adulto Jovem
18.
Patient ; 9(5): 419-31, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27002318

RESUMO

PURPOSE: For patients with uncontrolled epilepsy, the severity and postictal sequelae of seizures might be more impactful than their frequency. Seizure severity is often assessed using patient-reported outcome (PRO) instruments; however, evidence of content validity for existing instruments is lacking. Our aim was to understand the real-life experiences of patients with uncontrolled epilepsy. METHODS: A preliminary conceptual model was developed. The model was refined through (1) a targeted literature review of qualitative research on seizure severity; (2) interviews with four clinical epilepsy experts to evaluate identified concepts; and (3) qualitative interviews with patients with uncontrolled epilepsy, gathering descriptions of symptoms and impacts of epilepsy, focusing on how patients experience and describe "seizure severity." Findings were summarized in a final conceptual model of seizure severity in epilepsy. RESULTS: Twenty-five patients (12 who experienced primary generalized tonic-clonic seizures and 13 who experienced partial-onset seizures) expressed 42 different symptoms and 26 different impacts related to seizures. The final conceptual model contained a wide range of concepts related to seizure frequency, symptoms, and duration. CONCLUSION: Our model identified several new concepts that characterize the patient experience of seizure severity. A seizure severity PRO instrument should cover a wide range of seizure symptoms alongside frequency and duration of seizures. This qualitative work reinforces the notion that measuring seizure frequency is insufficient and that seizure severity is important in defining the patient's experience of epilepsy. This model could be used to assess the content validity of existing PRO instruments, or could support the development of a new one.


Assuntos
Epilepsia Generalizada , Modelos Teóricos , Convulsões , Anticonvulsivantes/uso terapêutico , Epilepsia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/tratamento farmacológico , Humanos , Pesquisa Qualitativa
20.
J Foot Ankle Surg ; 55(2): 314-6, 2016 Mar-Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25451204

RESUMO

Cuneiform dislocation associated with Lisfranc injury is a very rare injury. Dislocation over the midfoot due to a seizure has not been previously reported in published studies. A 35-year-old female presented with an intercuneiform dislocation and Lisfranc fracture-dislocation after a generalized seizure. Immediate close reduction of the dorsally dislocated cuneiforms was performed, followed by definitive treatment to restore the foot arches. A proposed underlying pathophysiology of dislocation due to seizure in terms of the biomechanics is discussed. The purpose of our report was to present the unusual etiology of this form of cuneiform dislocation and Lisfranc joint complex injury.


Assuntos
Epilepsia Generalizada/complicações , Ossos do Pé/lesões , Fratura-Luxação/cirurgia , Ossos do Tarso/lesões , Adulto , Feminino , Ossos do Pé/diagnóstico por imagem , Ossos do Pé/cirurgia , Fratura-Luxação/diagnóstico por imagem , Fratura-Luxação/etiologia , Humanos , Ossos do Tarso/diagnóstico por imagem , Ossos do Tarso/cirurgia
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