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1.
Clin Neurophysiol ; 130(4): 491-504, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30771726

RESUMO

OBJECTIVE: To evaluate the accuracy and clinical utility of conventional 21-channel EEG (conv-EEG), 72-channel high-density EEG (HD-EEG) and 306-channel MEG in localizing interictal epileptiform discharges (IEDs). METHODS: Twenty-four children who underwent epilepsy surgery were studied. IEDs on conv-EEG, HD-EEG, MEG and intracranial EEG (iEEG) were localized using equivalent current dipoles and dynamical statistical parametric mapping (dSPM). We compared the localization error (ELoc) with respect to the ground-truth Irritative Zone (IZ), defined by iEEG sources, between non-invasive modalities and the distance from resection (Dres) between good- (Engel 1) and poor-outcomes. For each patient, we estimated the resection percentage of IED sources and tested whether it predicted outcome. RESULTS: MEG presented lower ELoc than HD-EEG and conv-EEG. For all modalities, Dres was shorter in good-outcome than poor-outcome patients, but only the resection percentage of the ground-truth IZ and MEG-IZ predicted surgical outcome. CONCLUSIONS: MEG localizes the IZ more accurately than conv-EEG and HD-EEG. MSI may help the presurgical evaluation in terms of patient's outcome prediction. The promising clinical value of ESI for both conv-EEG and HD-EEG prompts the use of higher-density EEG-systems to possibly achieve MEG performance. SIGNIFICANCE: Localizing the IZ non-invasively with MSI/ESI facilitates presurgical evaluation and surgical prognosis assessment.

2.
Ann Clin Transl Neurol ; 6(1): 114-120, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30656189

RESUMO

Objective: Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a disorder of elevated gamma-amino butyric acid (GABA) and gamma hydroxybutyric acid (GHB) and a complex neuropsychiatric profile. Adult reports suggest worsening epilepsy and high SUDEP risk. Methods: Subjects with confirmed SSADH deficiency were recruited into a longitudinal study. Plasma thyroid hormone and total GABA/GHB were quantified by standard clinical chemistry methodologies and mass spectrometry, respectively. Results: A total of 133 subjects with SSADH deficiency are enrolled in the registry; 49 participated in the longitudinal study. The age range of the population is 8 weeks to 63 years (median 7.75 year; 44% male). There is a significant difference in proportions among the age groups in subjects affected with hypotonia, compulsive behavior, sleep disturbances, and seizures. Epilepsy is present in 50% of the total population, and more prevalent in subjects 12 years and older (P = 0.001). The median age of onset for absence seizures was 2 years, and 12 years for generalized tonic-clonic seizures (P < 0.01). The SUDEP rate in adults was 12% (4/33). There was a significant age-dependent negative correlation between GABA and T3 levels. Interpretation: There is an age-dependent association with worsening of epilepsy, behavioral disturbances including obsessive-compulsive behavior, and sleep disturbances with age in SSADH deficiency. There is a high risk of SUDEP. We have observed more absence seizures in younger patients, compared to tonic-clonic in the older cohort, which correlates with age-related changes in GABA and GHB concentration and thyroid function, as well as the natural history of seizures in the murine model.

3.
J Child Neurol ; 34(4): 216-220, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30644311

RESUMO

γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. We report 2 affected siblings in adolescence and adulthood, both with profound developmental impairment, intractable epilepsy, movement disorder, and behavioral fluctuations. This considerably expands the phenotype and longevity of this inherited neurotransmitter disease.

5.
Ann Neurol ; 84(3): 331-346, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30022519

RESUMO

OBJECTIVE: In patients with medically refractory epilepsy (MRE), interictal ripples (80-250Hz) are observed in large brain areas whose resection may be unnecessary for seizure freedom. This limits their utility as epilepsy biomarkers for surgery. We assessed the spatiotemporal propagation of interictal ripples on intracranial electroencephalography (iEEG) in children with MRE, compared it with the propagation of spikes, identified ripples that initiated propagation (onset-ripples), and evaluated their clinical value as epilepsy biomarkers. METHODS: Twenty-seven children who underwent epilepsy surgery were studied. We identified propagation sequences of ripples and spikes across multiple iEEG contacts and calculated each ripple or spike latency from the propagation onset. We classified ripples and spikes into categories (ie, onset, spread, and isolated) based on their spatiotemporal characteristics and correlated their mean rate inside and outside resection with outcome (good outcome, Engel 1 versus poor outcome, Engel≥2). We determined, as onset-zone, spread-zone, and isolated-zone, the areas generating the corresponding ripple or spike category and evaluated the predictive value of their resection. RESULTS: We observed ripple propagation in all patients and spike propagation in 25 patients. Mean rate of onset-ripples inside resection predicted the outcome (odds ratio = 5.37; p = 0.02) and correlated with Engel class (rho = -0.55; p = 0.003). Resection of the onset-ripple-zone was associated with good outcome (p = 0.047). No association was found for the spread-ripple-zone, isolated-ripple-zone, or any spike-zone. INTERPRETATION: Interictal ripples propagate across iEEG contacts in children with MRE. The association between the onset-ripple-zone resection and good outcome indicates that onset-ripples are promising epilepsy biomarkers, which estimate the epileptogenic tissue better than spread-ripples or onset-spikes. Ann Neurol 2018;84:331-346.

6.
J Clin Neurophysiol ; 35(4): 339-345, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29746391

RESUMO

INTRODUCTION: This study evaluates magnetoencephalographic (MEG) spike population as compared with intracranial electroencephalographic (IEEG) spikes using a quantitative method based on distributed source analysis. METHODS: We retrospectively studied eight patients with medically intractable epilepsy who had an MEG and subsequent IEEG monitoring. Fifty MEG spikes were analyzed in each patient using minimum norm estimate. For individual spikes, each vertex in the source space was considered activated when its source amplitude at the peak latency was higher than a threshold, which was set at 50% of the maximum amplitude over all vertices. We mapped the total count of activation at each vertex. We also analyzed 50 IEEG spikes in the same manner over the intracranial electrodes and created the activation count map. The location of the electrodes was obtained in the MEG source space by coregistering postimplantation computed tomography to MRI. We estimated the MEG- and IEEG-active regions associated with the spike populations using the vertices/electrodes with a count over 25. RESULTS: The activation count maps of MEG spikes demonstrated the localization associated with the spike population by variable count values at each vertex. The MEG-active region overlapped with 65 to 85% of the IEEG-active region in our patient group. CONCLUSIONS: Mapping the MEG spike population is valid for demonstrating the trend of spikes clustering in patients with epilepsy. In addition, comparison of MEG and IEEG spikes quantitatively may be informative for understanding their relationship.


Assuntos
Mapeamento Encefálico/métodos , Encéfalo/fisiopatologia , Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/fisiopatologia , Eletrocorticografia , Magnetoencefalografia , Adolescente , Encéfalo/cirurgia , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/cirurgia , Eletrocorticografia/métodos , Feminino , Humanos , Magnetoencefalografia/métodos , Masculino , Cuidados Pré-Operatórios , Estudos Retrospectivos , Processamento de Sinais Assistido por Computador
7.
Pediatr Neurol ; 83: 25-31, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29685607

RESUMO

BACKGROUND: The purpose of this study is to clarify the source distribution patterns of magnetoencephalographic spikes correlated with postsurgical seizure-free outcome in pediatric patients with focal cortical dysplasia. PATIENTS AND METHODS: Thirty-two patients with pathologically confirmed focal cortical dysplasia were divided into seizure-free and seizure-persistent groups according to their surgical outcomes based on Engel classification. In each patient, presurgical magnetoencephalography was reviewed. Dipole sources of magnetoencephalographic spikes were calculated according to a single dipole model. We obtained the following quantitative indices for evaluating dipole distribution: maximum distance over all pairs of dipoles, standard deviation of the distances between each dipole and the mean coordinate of all dipoles, average nearest neighbor distance, the rate of dipoles located within 10, 20, and 30 mm from the mean coordinate, and the rate of dipoles included in the resection. These indices were compared between the two patient groups. RESULTS: Average nearest neighbor distance was significantly smaller in the seizure-free group than in the seizure-persistent group (P = 0.008). The rates of dipoles located within 10, 20, and 30 mm from the mean coordinate were significantly higher in the seizure-free group (P = 0.001, 0.001, 0.005, respectively). The maximum distance, standard deviation, and resection rate of dipoles did not show a significant difference between the two groups. CONCLUSIONS: A spatially restricted dipole distribution of magnetoencephalographic spikes is correlated with postsurgical seizure-free outcomes in patients with focal cortical dysplasia. The distribution can be assessed by quantitative indices that are clinically useful in the presurgical evaluation of these patients.

8.
Am J Hum Genet ; 102(5): 995-1007, 2018 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-29656858

RESUMO

Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis.

10.
J Child Neurol ; 33(6): 405-412, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29575949

RESUMO

PURPOSE: To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile spasms, correlate them to clinical characteristics, and describe repeat imaging findings. METHODS: A retrospective review of infantile spasm patients was conducted, classifying abnormal MRI into developmental, acquired, and nonspecific subgroups. RESULTS: MRIs were abnormal in 52 of 71 infantile spasm patients (23 developmental, 23 acquired, and 6 nonspecific) with no correlation to the clinical infantile spasm characteristics. Both developmental and acquired subgroups exhibited cortical gray and/or white matter abnormalities. Additional abnormalities of deep gray structures, brain stem, callosum, and volume loss occurred in the structural acquired subgroup. Repeat MRI showed better definition of the extent of existing malformations. CONCLUSION: In structural infantile spasms, developmental/acquired subgroups showed differences in pattern of MRI abnormalities but did not correlate with clinical characteristics.

11.
Epilepsy Behav ; 80: 291-295, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29398626

RESUMO

BACKGROUND: Presurgical evaluation with antiseizure medication tapering in patients with refractory epilepsy places them at risk for seizure clustering or prolonged seizures. We looked at the occurrence of seizure clustering (3 or more seizures within 24h) and prolonged seizures and the factors that influence seizure clustering and affect length of stay (LOS) in pediatric patients during presurgical monitoring. METHODS: We retrospectively reviewed the medical records of all consecutive admissions to the epilepsy monitoring unit (EMU) and included patients undergoing noninvasive presurgical evaluation. Data were extracted regarding demographics, seizure history, details of the EMU admission including occurrence of seizure clusters, prolonged seizures, status epilepticus, treatment, and LOS. RESULTS: Sixty-nine patients met our inclusion criteria. Seizure clustering during monitoring was observed in 33 patients (48%). Prolonged seizures lasting >5min was observed in 14 (20%) patients including 2 with status epilepticus (3%). Seizure clusters necessitated rescue treatment in around 30%. History of seizure clustering at home was the only factor associated with the occurrence of seizure clustering during the EMU stay (p<0.0001). The LOS did not differ significantly between patients who had seizure clustering during monitoring versus those who did not (p=0.369). CONCLUSIONS: Seizure clustering was common in children undergoing presurgical monitoring and seen especially in those with a history of seizure clustering at home. Occurrence of seizure clustering did not prolong the LOS but necessitated the use of rescue medications in about a third of the patients with seizure clusters due to multiple seizures.

12.
Continuum (Minneap Minn) ; 24(1, Child Neurology): 186-209, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29432243

RESUMO

PURPOSE OF REVIEW: Epilepsy syndromes are an important clinical construct in pediatric epilepsy, as they encompass recognizable patterns seen in patients with epilepsies, whether of the more benign variety or associated with encephalopathy. RECENT FINDINGS: Syndromes may be organized by age of onset: neonatal, infantile, childhood, or adolescent. The assignment of a syndrome has specific implications for diagnosis, management, and prognostication. The 2010 revised classification of the epilepsies by the International League Against Epilepsy preserved the syndrome approach, while progress in genetics continues to advance our understanding of the pathophysiology and overlap of the epilepsy syndromes. SUMMARY: Given that mutations of the same gene may cause both encephalopathic and relatively benign epilepsies, an understanding of the pediatric epilepsy syndromes remains vital to patient care.


Assuntos
Síndromes Epilépticas , Adolescente , Idade de Início , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino
13.
Epilepsia ; 59(4): e40-e44, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29473152

RESUMO

The histopathology, "white matter spongiosis," defined by electron microscopy (EM) as "intramyelinic edema," has been associated with vigabatrin therapy in various animal models, but its role or significance in clinical studies is unknown. We conducted a neuropathological examination on a 27-month-old boy with bilateral polymicrogyria and epilepsy after sudden unexpected death in epilepsy (SUDEP). The patient was initiated on vigabatrin at 4 months of age, which controlled infantile spasms, and was continued as maintenance therapy. Autopsy showed a combination of developmental and acquired lesions: (1) bilateral gyral malformations of the frontal, parietal, temporal, and insular cortex; (2) agenesis of the olfactory tracts and bulbs; (3) hippocampal abnormalities: dentate gyrus bilamination and granule cell dispersion; and (4) areas of microscopic bilateral, symmetric white matter spongiosis in the brainstem central tegmental tract, amiculum and hilum of the inferior olive, medial longitudinal fasciculus, paragigantocellularis lateralis, optic nerves and chiasm, and hypothalamus. The white matter spongiosis was identical to the histopathologic lesions (which by EM exhibited intramyelinic edema) that were demonstrated in animal models on vigabatrin therapy, indicating that vigabatrin toxicity is not restricted to animal models.

14.
Epilepsia ; 59(1): 37-66, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29247482

RESUMO

The most common forms of acquired epilepsies arise following acute brain insults such as traumatic brain injury, stroke, or central nervous system infections. Treatment is effective for only 60%-70% of patients and remains symptomatic despite decades of effort to develop epilepsy prevention therapies. Recent preclinical efforts are focused on likely primary drivers of epileptogenesis, namely inflammation, neuron loss, plasticity, and circuit reorganization. This review suggests a path to identify neuronal and molecular targets for clinical testing of specific hypotheses about epileptogenesis and its prevention or modification. Acquired human epilepsies with different etiologies share some features with animal models. We identify these commonalities and discuss their relevance to the development of successful epilepsy prevention or disease modification strategies. Risk factors for developing epilepsy that appear common to multiple acute injury etiologies include intracranial bleeding, disruption of the blood-brain barrier, more severe injury, and early seizures within 1 week of injury. In diverse human epilepsies and animal models, seizures appear to propagate within a limbic or thalamocortical/corticocortical network. Common histopathologic features of epilepsy of diverse and mostly focal origin are microglial activation and astrogliosis, heterotopic neurons in the white matter, loss of neurons, and the presence of inflammatory cellular infiltrates. Astrocytes exhibit smaller K+ conductances and lose gap junction coupling in many animal models as well as in sclerotic hippocampi from temporal lobe epilepsy patients. There is increasing evidence that epilepsy can be prevented or aborted in preclinical animal models of acquired epilepsy by interfering with processes that appear common to multiple acute injury etiologies, for example, in post-status epilepticus models of focal epilepsy by transient treatment with a trkB/PLCγ1 inhibitor, isoflurane, or HMGB1 antibodies and by topical administration of adenosine, in the cortical fluid percussion injury model by focal cooling, and in the albumin posttraumatic epilepsy model by losartan. Preclinical studies further highlight the roles of mTOR1 pathways, JAK-STAT3, IL-1R/TLR4 signaling, and other inflammatory pathways in the genesis or modulation of epilepsy after brain injury. The wealth of commonalities, diversity of molecular targets identified preclinically, and likely multidimensional nature of epileptogenesis argue for a combinatorial strategy in prevention therapy. Going forward, the identification of impending epilepsy biomarkers to allow better patient selection, together with better alignment with multisite preclinical trials in animal models, should guide the clinical testing of new hypotheses for epileptogenesis and its prevention.


Assuntos
Lesões Encefálicas/complicações , Modelos Animais de Doenças , Epilepsia/etiologia , Pesquisa Médica Translacional , Animais , Lesões Encefálicas/classificação , Humanos
15.
Dev Med Child Neurol ; 60(3): 283-289, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29168169

RESUMO

AIM: To evaluate the efficacy of clobazam treatment in reducing epileptiform discharges and modifying neuropsychological function in continuous spike-wave during slow wave sleep. METHOD: We performed a prospective clinical trial in patients with continuous spike-wave during sleep aged 4 to 10 years. Patients underwent neuropsychological assessment and overnight electroencephalographic monitoring before treatment, and subsequent repeat assessment and overnight electroencephalographic monitoring 3 months after treatment. Treatment consisted of 1mg/kg clobazam up to a maximum dose of 30mg during the first night, followed by 0.5mg/kg nightly for 3 months. RESULTS: Nine patients completed the study and had pre- and post-neuropsychological evaluation. There was a qualitative reduction in median (p25 -p75 ) spike percentage after 3 months (72.2 [68.0-75.8] vs 32.7 [4.7-81.7]). There were no marked changes in median (p25 -p75 ) IQ comparing pre- and post-clobazam treatment (80.0 [74.0-88.0] vs 80.0 [67.0-89.0]). There was a qualitative increase in Verbal IQ (83.0 [69.0-92.0] vs 95.0 [83.0-99.0]) and a qualitative decrease in Non-verbal IQ (84.0 [74.0-87.0] vs 71.0 [60.0-84.0]). INTERPRETATION: Qualitative improvements in epileptiform activity and cognition occurred in patients treated with clobazam for 3 months and the relationship between epileptiform activity and cognitive outcome should be studied in larger studies. WHAT THIS PAPER ADDS: Verbal IQ in patients with continuous spike-wave during sleep improved following short-term treatment with clobazam. Other neuropsychological improvements were observed, but varied by patient. Cognitive improvement was observed despite some worsening of epileptiform discharges.


Assuntos
Benzodiazepinas/farmacologia , Benzodiazepinas/uso terapêutico , Ondas Encefálicas/efeitos dos fármacos , Cognição/efeitos dos fármacos , Epilepsia/tratamento farmacológico , Sono/efeitos dos fármacos , Adolescente , Criança , Pré-Escolar , Clobazam , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Adulto Jovem
16.
Pediatr Neurol ; 76: 47-53, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28985901

RESUMO

OBJECTIVE: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency. METHODS: A series of six patients with homozygous mutations of PNPO, the gene coding pyridox(am)ine 5'-phosphate oxidase, were evaluated in our center over the course of two years for phenotyping of neurological and systemic manifestations. RESULTS: Five of six were born prematurely, three had anemia and failure to thrive, and two had elevated alkaline phosphatase. A movement disorder was observed in two children, and a reversible retinopathy was observed in the most severely affected infant. All patients had neonatal-onset epilepsy and were on a continuum of developmental delay to profound encephalopathy. Electroencephalographic features included background slowing and disorganization, absent sleep features, and multifocal and generalized epileptiform discharges. All the affected probands carried a homozygous PNPO mutation (c.674 G>T, c.686 G>A and c.352G>A). CONCLUSION: In addition to the well-described epileptic encephalopathy, pyridox(am)ine 5'-phosphate oxidase deficiency causes a range of neurological and systemic manifestations. A movement disorder, developmental delay, and encephalopathy, as well as retinopathy, anemia, and failure to thrive add to the broadening clinical spectrum of P5P dependent epilepsy.


Assuntos
Encefalopatias Metabólicas/complicações , Epilepsia/etiologia , Hipóxia-Isquemia Encefálica/complicações , Piridoxaminafosfato Oxidase/deficiência , Convulsões/complicações , Encefalopatias Metabólicas/diagnóstico por imagem , Eletroencefalografia , Feminino , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Recém-Nascido , Imagem por Ressonância Magnética , Masculino , Mutação/genética , Fosfato de Piridoxal/líquido cefalorraquidiano , Fosfato de Piridoxal/genética , Retina/patologia , Convulsões/diagnóstico por imagem
17.
J Child Neurol ; 32(10): 880-885, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28691593

RESUMO

OBJECTIVE: Characterize clinical and electroencephalography (EEG) characteristics of preterm neonates undergoing continuous EEG in the neonatal intensive care unit. METHODS: Retrospective study of preterm neonates born less than 37 weeks' gestational age undergoing continuous EEG in the neonatal intensive care unit at Boston Children's Hospital over a 2-year period. RESULTS: Fifty-two preterms (46% male) had a mean gestational age of 32.8 weeks (standard deviation = 4.17). Seizures were detected in 12/52 (23%), with EEG seizures detected in 4/12 (33%). The median time from EEG to the first seizure was 0.5 hours (interquartile range 0.24-4). Factors associated with seizures were male gender (odds ratio = 4.65 [95% confidence interval = 1.02-21.24], P = .047) and lack of EEG state change (odds ratio = 0.043 [95% confidence interval = 0.005-0.377], P = .04). CONCLUSION: Twenty-three percent of preterms undergoing continuous EEG had EEG seizures or electrographic seizures with no clear clinical correlate. This confirms recent American Clinical Neurophysiology Society guidelines suggesting that preterm neonates are at high risk for seizures.


Assuntos
Encéfalo/fisiopatologia , Eletroencefalografia , Recém-Nascido Prematuro/fisiologia , Unidades de Terapia Intensiva Neonatal , Convulsões/fisiopatologia , Cuidados Críticos , Feminino , Humanos , Recém-Nascido de Baixo Peso/fisiologia , Recém-Nascido , Tempo de Internação , Modelos Logísticos , Masculino , Análise Multivariada , Monitorização Neurofisiológica , Razão de Chances , Estudos Retrospectivos , Fatores de Risco , Convulsões/epidemiologia , Convulsões/etiologia , Convulsões/terapia , Fatores Sexuais
18.
J Child Neurol ; 32(8): 774-788, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28503985

RESUMO

By definition, unprovoked seizures are not precipitated by an identifiable factor, such as fever or trauma. A thorough history and physical examination are essential to caring for pediatric patients with a potential first unprovoked seizure. Differential diagnosis, EEG, neuroimaging, laboratory tests, and initiation of treatment will be reviewed. Treatment is typically initiated after 2 unprovoked seizures, or after 1 seizure in select patients with distinct epilepsy syndromes. Recent expansion of the definition of epilepsy by the ILAE allows for the diagnosis of epilepsy to be made after the first seizure if the clinical presentation and supporting diagnostic studies suggest a greater than 60% chance of a second seizure. This review summarizes the current literature on the diagnostic and therapeutic management of first unprovoked seizure in children and adolescents while taking into consideration the revised diagnostic criteria of epilepsy.


Assuntos
Gerenciamento Clínico , Epilepsia/diagnóstico , Epilepsia/terapia , Adolescente , Criança , Cognição , Diagnóstico Diferencial , Eletroencefalografia/métodos , Eletroencefalografia/normas , Epilepsia/psicologia , Feminino , Humanos , Masculino , Neuroimagem , Exame Físico
19.
J Clin Neurophysiol ; 34(5): 421-426, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28430674

RESUMO

PURPOSE: Our goal was to define the duration of continuous EEG (cEEG) monitoring needed to adequately capture electrographic seizures and EEG status epilepticus in the pediatric intensive care unit using clinical and background EEG features. METHODS: Retrospective study of patients aged 1 month to 21 years admitted to a tertiary pediatric intensive care unit and undergoing cEEG (>3 hours). Clinical data collected included admission diagnosis, EEG background features, and time variables including time to first seizure after initiation of cEEG. RESULTS: Four hundred fourteen patients aged 4.2 (0.75-11.3) years (median, interquartile range) were included. With a median duration of 21 (16-42.2) hours of cEEG monitoring, we identified electrographic seizure or EEG status epilepticus in 25% of subjects. We identified three features that could improve the efficiency of cEEG resources and provide a decision-making framework: (1) clinical history of acute encephalopathy is not predictive of detecting electrographic seizure or EEG status epilepticus, whereas a history of status epilepticus or seizures is; (2) normal EEG background or absence of epileptiform discharges in the initial 24 hours of recording informs the decision to discontinue cEEG; (3) failure to record electrographic ictal events within the first 4 to 6 hours of monitoring may be sufficient to predict the absence of subsequent ictal events. CONCLUSIONS: Individualized monitoring plans are necessary to increase seizure detection yield while improving resource utilization. A strategy using information from the clinical history, initial EEG background, and the first 4 to 6 hours of recording may be effective in determining the necessary duration of cEEG monitoring in the pediatric intensive care unit.


Assuntos
Transtornos da Consciência/diagnóstico , Cuidados Críticos/métodos , Eletroencefalografia/métodos , Unidades de Terapia Intensiva Pediátrica , Monitorização Fisiológica/métodos , Convulsões/diagnóstico , Estado Epiléptico/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Cuidados Críticos/normas , Eletroencefalografia/normas , Feminino , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica/normas , Masculino , Monitorização Fisiológica/normas , Adulto Jovem
20.
Neurology ; 88(20): 1919-1924, 2017 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-28411234

RESUMO

OBJECTIVE: We report a case series of 10 patients with γ-aminobutyric acid (GABA)-transaminase deficiency including a novel therapeutic trial and an expanded phenotype. METHODS: Case ascertainment, literature review, comprehensive evaluations, and long-term treatment with flumazenil. RESULTS: All patients presented with neonatal or early infantile-onset encephalopathy; other features were hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. EEGs showed burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Five of the 10 patients are currently alive with age at last follow-up between 18 months and 9.5 years. Treatment with continuous flumazenil was implemented in 2 patients. One patient, with a milder phenotype, began treatment at age 21 months and has continued for 20 months with improved alertness and less excessive adventitious movements. The second patient had a more severe phenotype and was 7 years of age at initiation of flumazenil, which was not continued. CONCLUSIONS: GABA-transaminase deficiency presents with neonatal or infantile-onset encephalopathy including hypersomnolence and choreoathetosis. A widened phenotypic spectrum is reported as opposed to lethality by 2 years of age. The GABA-A benzodiazepine receptor antagonist flumazenil may represent a therapeutic strategy.


Assuntos
4-Aminobutirato Transaminase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Erros Inatos do Metabolismo dos Aminoácidos/mortalidade , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Flumazenil/uso terapêutico , Seguimentos , Moduladores GABAérgicos/uso terapêutico , Humanos , Lactente , Masculino , Fenótipo
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