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1.
J Sch Nurs ; : 10598405231210959, 2023 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-37960862

RESUMO

Regular attendance is integral for students' academic success; it also affects adolescents' physical and mental health. Very few studies consider (a) differences between partial- and full-day absences regarding chronic absenteeism (CA; missing school ≥15 days in an academic year); or (b) roles of school nurses in addressing student absenteeism. This study describes school nurses' perceptions of factors related to CA and differences between partial- and full-day absences by analyzing qualitative data from six focus groups with 21 Midwestern school nurses. Four themes emerged: Absenteeism at the intersection of family and health; Absenteeism at the intersection of family and school; Absenteeism at the intersection of family and ecological systems; and School nurse roles in supporting chronically absent students. Findings highlight the importance of school nurses by describing their role in identifying students who are at risk for CA, allowing for effective assessment and intervention with students before patterns of CA become habitual.

2.
Epilepsia ; 2022 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-36307934

RESUMO

OBJECTIVE: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome. METHODS: In this multicenter retrospective cohort study, we included 267 EEM patients from 9 countries. Data about electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia over body regions other than eyelids (body-MYO). RESULTS: Kernel density estimation revealed a trimodal distribution of AEO and Fisher-Jenks optimization disclosed three EEM subgroups: early-onset (EO-EEM), intermediate-onset (IO-EEM) and late-onset subgroup (LO-EEM). EO-EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EEM was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO-EEM and LO-EEM compared with EO-EEM. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome. SIGNIFICANCE: Based on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians towards a more accurate classification and prognostic profiling of EEM patients.

3.
Epilepsia ; 63(6): 1398-1442, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35503717

RESUMO

The 2017 International League Against Epilepsy classification has defined a three-tier system with epilepsy syndrome identification at the third level. Although a syndrome cannot be determined in all children with epilepsy, identification of a specific syndrome provides guidance on management and prognosis. In this paper, we describe the childhood onset epilepsy syndromes, most of which have both mandatory seizure type(s) and interictal electroencephalographic (EEG) features. Based on the 2017 Classification of Seizures and Epilepsies, some syndrome names have been updated using terms directly describing the seizure semiology. Epilepsy syndromes beginning in childhood have been divided into three categories: (1) self-limited focal epilepsies, comprising four syndromes: self-limited epilepsy with centrotemporal spikes, self-limited epilepsy with autonomic seizures, childhood occipital visual epilepsy, and photosensitive occipital lobe epilepsy; (2) generalized epilepsies, comprising three syndromes: childhood absence epilepsy, epilepsy with myoclonic absence, and epilepsy with eyelid myoclonia; and (3) developmental and/or epileptic encephalopathies, comprising five syndromes: epilepsy with myoclonic-atonic seizures, Lennox-Gastaut syndrome, developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep, hemiconvulsion-hemiplegia-epilepsy syndrome, and febrile infection-related epilepsy syndrome. We define each, highlighting the mandatory seizure(s), EEG features, phenotypic variations, and findings from key investigations.


Assuntos
Epilepsias Mioclônicas , Epilepsias Parciais , Epilepsia Tipo Ausência , Criança , Eletroencefalografia , Humanos , Convulsões
4.
Neurol Sci ; 42(5): 2059-2062, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33387058

RESUMO

Eyelid myoclonia with absences is recently included in the category of childhood epileptic syndromes. It is clinically characterized by brief seizures of eyelid myoclonia, sometimes followed by absences, and it is associated to EEG generalized discharges of polyspikes or polyspike-waves, which are triggered by eyes closure in a well-lit room. This epileptic syndrome probably has a genetic origin, as well as other genetic generalized epilepsies, in particular photosensitive epilepsies. We describe the case of a patient affected by eyelid myoclonia with absences, intellectual disability, and attention deficit hyperactivity disorder (ADHD), with a de novo mutation of the RORB gene (retinoid-related orphan receptor ß); this gene is involved in vivo in different neuronal processes among which are migration and differentiation. We suggest that its mutation in our patient can be considered the cause of the aberrant functioning of the cerebral cortex, which is clinically expressed by epilepsy and neurodevelopment disorders.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Epilepsias Mioclônicas , Epilepsia Tipo Ausência , Deficiência Intelectual , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/genética , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/genética , Pálpebras , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Mutação , Membro 2 do Grupo F da Subfamília 1 de Receptores Nucleares/genética , Fenótipo
5.
Adv Health Sci Educ Theory Pract ; 26(1): 5-18, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32144528

RESUMO

Many processes and practices in the field of health professions education have been based more on tradition and assumption than on evidence and theory. As the field matures, researchers are increasingly seeking evidence to support various teaching and assessment methods. However, there is a tendency to focus on a limited set of topics, leaving other areas under-examined and limiting our understanding of the field. By explicitly examining areas that are undescribed, i.e. absences in the literature, researchers and scholars have the potential to enrich our practice and our field's understanding of what counts as legitimate research. Using the theoretical framework of Bourdieu's concept of field, we conducted an instrumental case study of three published research projects that each had a finding of absence. We examined each case individually, and then analyzed across cases. Our dataset included published papers, peer-review feedback, and reflective notes. Each of the cases interrogated a different form of absence: absence of content, absence of research, and absence of evidence. While the typology suggests that each absence was different, there were similarities across cases in terms of challenges in 'proving' the reality of the absence and some disbelief or discomfort with accepting the findings as rigorous and/or legitimate. Absence research has potential to add to our theoretical and methodological approaches to the field. This type of research is potentially an exciting and productive new way for scholars to shed light on aspects of health professions education that have received limited attention to date.


Assuntos
Ocupações em Saúde/educação , Pesquisa/organização & administração , Acreditação/normas , Educação Médica/métodos , Empatia , Empoderamento , Medicina de Família e Comunidade/normas , Humanos , Pesquisa/normas , Projetos de Pesquisa , Ultrassonografia/métodos
6.
Int J Mol Sci ; 22(11)2021 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-34070602

RESUMO

Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or electroencephalogram (EEG) paroxysms induced by eye closure. Although a genetic contribution to this syndrome is likely and some genetic alterations have been defined in several cases, the genes responsible for have not been identified. In this review, patients diagnosed with EMA (or EMA-like phenotype) with a genetic diagnosis are summarized. Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2). Moreover, although there is not enough evidence yet to consider them as candidate for EMA, three more genes present also different alterations in some patients with clinical diagnosis of the disease (SLC2A1, NAA10, and KCNB1). Therefore, a possible relationship of these genes with the disease is discussed in this review.


Assuntos
Epilepsia Tipo Ausência/genética , Doenças Genéticas Inatas/genética , Mioclonia/genética , Humanos
7.
Environ Monit Assess ; 193(12): 772, 2021 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-34739583

RESUMO

We use binomial kriging to model the spatial distribution of myiasis by three species namely Chrysomya bezziana, Wohlfahrtia magnifica and Lucilia cuprina in the livestock of Khyber Pakhtunkhwa, Pakistan. Traditional species distribution models are usually based on assumption of independence of observations. Species data often come in presence-only form for which background points are generated based on some covariates using statistical and machine learning techniques such as MaxEnt. We assume a symmetric binomial distribution based on the principle of maximum entropy in order to decide the number of pseudo-absences. Our results showed that the spatial models fitted very well and prediction distributions were estimated with excellent accuracy. Moreover kriging maps were more accurate as most of the non-spatial variation has been picked up by external drift with higher values of the sensitivity focusing partial AUC for all the three species. Land-use-land-cover was a common factor significantly affecting spatial distribution of all the three species suggesting that for established species anthropogenic factors such as land use become a strong determinant of their spatial distribution. Our results also revealed that for invading species like W. magnifica elevation acts as a barrier to species dispersal and therefore is more limiting to distribution. Furthermore the higher overall prediction accuracy demonstrated that our models performed well in predicting the distributions of the three species, which would lead to better understanding and management of the larval infestation.


Assuntos
Dípteros , Gado/parasitologia , Miíase , Animais , Dípteros/classificação , Monitoramento Ambiental , Larva , Miíase/veterinária , Paquistão
8.
Epilepsy Behav ; 102: 106638, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31805510

RESUMO

INTRODUCTION: Praxis induction (PI) is a reflex trait defined as the precipitation of epileptic discharges (ED) or seizures by cognition-guided tasks that often involve visuomotor coordination and decision-making. This is a characteristic of genetic generalized epilepsy (GGE), and especially of juvenile myoclonic epilepsy (JME). Additionally, several studies have described dysexecutive traits in these patients. Our objective was to analyze PI in the different syndromes of GGE and explore the relationship between PI and cognitive performance. METHODS: Sixty-one adult patients with GGE underwent video-electroencephalograph (EEG) during which a neuropsychological activation protocol (NPAP) was performed: reading, writing, calculations, crosswords, and tangram. Praxis induction was defined by the presence of ED during the NPAP with a persistence of at least twice seen on the basal EEG. All patients also underwent a comprehensive cognitive evaluation. RESULTS: We observed PI in 22 out of 61 patients (36%). Grouped by syndrome, PI was more frequent in adult patients with persistent childhood or juvenile absence epilepsy (JAE, 60%), followed by JME (42.1%) and in a lesser grade in patients with only tonic-clonic generalized seizures (9%). Patients classified as having PI did not obtain worse results in the cognitive evaluation. The presence of ED during the performance of a test was associated with a trend to lower results in that specific test. SIGNIFICANCE: Our study showed a relevant presence of PI in patients whose absence epilepsy persists into adulthood, and not only in JME, the syndrome classically associated with PI. According to our results, PI as a reflex trait does not imply necessarily a poorer cognitive phenotype, but the induction of frequent ED during the tasks could be associated with transient cognitive impairment.


Assuntos
Cognição , Epilepsia Generalizada/psicologia , Adolescente , Adulto , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/psicologia , Tomada de Decisões , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Desempenho Psicomotor , Adulto Jovem
9.
BMC Health Serv Res ; 20(1): 763, 2020 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-32811477

RESUMO

BACKGROUND: The coverage for influenza vaccination among healthcare workers (HCWs) is inadequate in many countries despite strong recommendations; is there evidence that influenza vaccination is effective in preventing absenteeism? Aim of the study is to evaluate the influenza vaccination coverage and its effects on absences from work among HCWs of an Italian academic healthcare trust during the 2017-2018 influenza season. METHODS: We performed a retrospective study to identify predictive characteristics for vaccination, and a retrospective cohort study to establish the effect of vaccination on absences among the vaccinated and non-vaccinated cohorts between December 2017 and May 2018. Overall absence rates over the whole observation period and sub-rates over 14-days intervals were calculated; then comparison between the two groups were conducted applying Chi-square test. RESULTS: Influenza vaccination coverage among 4419 HCWs was 14.5%. Age, university degree, medical care area and physician profile were positively associated with vaccine uptake. Globally during influenza season non-vaccinated HCWs lost 2.47/100 person-days of work compared to 1.92/100 person-days of work among vaccinated HCWs (p < 0.001); significant differences in absences rates resulted when focusing on the influenza epidemic peak. CONCLUSIONS: Factors predicting influenza uptake among HCWs were male sex, working within medical care area and being a physician. Absenteeism among HCWs resulted to be negatively correlated with vaccination against influenza. These findings add evidence to the urgent need to implement better influenza vaccination strategies towards HCWs to tackle vaccine hesitancy among professionals.


Assuntos
Absenteísmo , Pessoal de Saúde/estatística & dados numéricos , Vacinas contra Influenza/administração & dosagem , Cobertura Vacinal/estatística & dados numéricos , Adulto , Feminino , Humanos , Influenza Humana/prevenção & controle , Itália , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
10.
Epilepsia ; 60(6): 1104-1113, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31087661

RESUMO

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


Assuntos
Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/diagnóstico , Epilepsia Tipo Ausência/complicações , Epilepsia Tipo Ausência/diagnóstico , Doenças Palpebrais/complicações , Doenças Palpebrais/diagnóstico , Adolescente , Adulto , Idoso , Anticonvulsivantes/uso terapêutico , Criança , Estudos de Coortes , Eletrodiagnóstico , Eletroencefalografia , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsia Tipo Ausência/tratamento farmacológico , Doenças Palpebrais/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
11.
Epilepsy Behav ; 98(Pt A): 273-278, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31419648

RESUMO

OBJECTIVES: The objective of this study was to investigate several clinical electroencephalogram (EEG) findings possibly predicting the early response to antiepileptic drugs (AEDs) and the late outcome in children with clinical EEG features fitting the syndromic diagnosis of childhood absence epilepsy (CAE). METHODS: In 117 untreated patients with typical absences, we analyzed clinical EEG features, and resting EEG activity using partial directed coherence to calculate out- and inflow of cortical oscillations in different regions of interest. RESULTS: Absences began before 4 years in 12.0%, at 4-9.5 years in 71.8%, and at 10-13 years in 16.2% of the cases. Valproate was started in 91 patients and ethosuximide in 27. With one of AEDs, 77.8% reached seizure control, while the remaining patients needed to switch to the alternative AED. Only 5.9% patients remained drug-resistant. Absences with simple automatisms were the only feature associated with a lack of response to the first AED. Connectivity analysis of resting EEGs showed increased frontal outflow in patients compared with controls, which was significantly greater in the nonresponders to the first AED than in responders. Among the 91 patients followed for 61.2 ±â€¯31.7 months, 14.2% relapsed after a seizure-free period, without differences between the responders to the first or second AED. CONCLUSIONS: The assessment of electroclinical features provided only minimal prognostic indices. The enhanced outflow of frontal oscillations suggests a circuitry dysfunction significantly greater in the nonresponder to the early treatment. Seizure relapses were rare and comparable in patients who reached seizure freedom with first or second AED, indicating that the resistance to one AED does not influence the outcome.


Assuntos
Anticonvulsivantes/uso terapêutico , Eletroencefalografia/tendências , Epilepsia Tipo Ausência/tratamento farmacológico , Epilepsia Tipo Ausência/fisiopatologia , Adolescente , Criança , Pré-Escolar , Eletroencefalografia/métodos , Epilepsia Tipo Ausência/diagnóstico , Etossuximida/uso terapêutico , Feminino , Seguimentos , Humanos , Masculino , Recidiva , Resultado do Tratamento , Ácido Valproico/uso terapêutico
12.
Epilepsy Behav ; 89: 99-104, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30408705

RESUMO

OBJECTIVE: Dysexecutive traits have been described in idiopathic generalized epilepsy (IGE), but studies mainly focused on juvenile myoclonic epilepsy (JME). To better understand the neuropsychology of IGE, more research is needed on syndromes other than JME, controlling potential confounding factors as the cognitive effects of valproate and epileptic discharges (ED). We describe the neuropsychological profile of a group of patients with different syndromes of IGE including simultaneous video electroencephalography (EEG). METHODS: We performed a comprehensive cognitive and neuropsychiatric evaluation with video-EEG on 61 adults with IGE (JME 19; IGE with generalized tonic-clonic seizures [GTCS] alone [IGE-GTCS] 22; childhood absence epilepsy [CAE] or juvenile absences epilepsy [JAE] persisting in adulthood 20). We compared results between patients (globally and by syndrome) and a control group of 21 individuals (similar age, educational level); p-values were adjusted for multiple testing according to a 0.05 false discovery rate. RESULTS: Patients obtained significantly lower results than controls on visuospatial working memory, processing speed, cognitive flexibility and strategy, abstract visuospatial reasoning, arithmetic, and acquired knowledge. While CAE/JAE showed the lowest scores on cognitive assessment and highest anxiety index, IGE-GTCS showed the most favorable scores. Most tests were not influenced by valproate intake, and the dose did not correlate with cognitive performance in the test that yielded differences between patients and controls. Epileptic discharges during assessment were not frequent (10 patients, 1-4 tests). SIGNIFICANCE: Our findings suggest that patients with IGE have significantly lower abilities in various executive functions and acquired knowledge, compared to population of same age and education. The low frequency of ED on simultaneous video-EEG and absence of correlation of scores with valproate dose reinforce that the obtained results are due to a cognitive phenotype in IGE. This phenotype may be influenced by syndrome, and patients with CAE/JAE persisting in the adult may have a wider neuropsychiatric impairment.


Assuntos
Cognição/fisiologia , Epilepsia Generalizada/psicologia , Adulto , Estudos de Casos e Controles , Eletroencefalografia/métodos , Epilepsia Tipo Ausência/fisiopatologia , Epilepsia Tipo Ausência/psicologia , Epilepsia Generalizada/fisiopatologia , Função Executiva/fisiologia , Feminino , Humanos , Conhecimento , Masculino , Memória de Curto Prazo/fisiologia , Pessoa de Meia-Idade , Epilepsia Mioclônica Juvenil/fisiopatologia , Epilepsia Mioclônica Juvenil/psicologia , Testes Neuropsicológicos , Fenótipo , Estudos Prospectivos , Convulsões/fisiopatologia
13.
Scand J Public Health ; 46(19_suppl): 18-31, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29471761

RESUMO

AIM: We examine the relationship between the subjective assessment of health status and retirement by using information on expected and actual retirement ages. METHODS: Subjective data from cross-sectional surveys, conducted in Finland in 2003 and 2008, are linked to information on actual retirement age from register data from 2003 to 2013. Regression models are estimated for actual and expected retirement ages. RESULTS: While the health status is positively correlated with both actual and anticipated full-time retirement age, the actual age of retirement is less sensitive to health. On average, individuals tend to retire later than they had anticipated. We examine potential biases in the health-retirement relationship. Measurement error in regard to health status biases the results downwards. Using data on observed retirement ages, omitting those who do not retire during the data period, leads to a selection problem. Ignoring the selection also leads to a downwards bias in the health-retirement age connection. As a more exogenous health variable we use health shocks, which are measured by average annual days of absence due to sickness in the follow-up period. These shocks are negatively related to retirement age in a subsample of initially healthy individuals. CONCLUSIONS: When subjective assessment of health is used for explaining retirement behavior, the effects of health can often be underestimated rather than overestimated. To lengthen working careers, attention should be given to both the ability (health) and willingness (perceptions of proper retirement age) of people to continue longer at work.


Assuntos
Nível de Saúde , Aposentadoria/psicologia , Aposentadoria/estatística & dados numéricos , Fatores Etários , Estudos Transversais , Feminino , Finlândia , Humanos , Intenção , Masculino , Pessoa de Meia-Idade
14.
Mem Cognit ; 46(8): 1344-1359, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30027454

RESUMO

Some causal relations refer to causation by commission (e.g., "A gunshot causes death"), and others refer to causation by omission (e.g., "Not breathing causes death"). We describe a theory of the representation of omissive causation based on the assumption that people mentally simulate sets of possibilities-mental models-that represent causes, enabling conditions, and preventions (Goldvarg & Johnson-Laird, 2001). The theory holds that omissive causes, enabling conditions, and preventions each refer to distinct sets of possibilities. For any such causal relation, reasoners typically simulate one initial possibility, but they are able to consider alternative possibilities through deliberation. These alternative possibilities allow them to deliberate over finer-grained distinctions when reasoning about causes and effects. Hence, reasoners should be able to distinguish between omissive causes and omissive enabling conditions. Four experiments corroborated the predictions of the theory. We describe them and contrast the results with the predictions of alternative accounts of causal representation and inference.


Assuntos
Lógica , Pensamento/fisiologia , Adulto , Feminino , Humanos , Masculino
15.
Brain ; 138(Pt 5): 1198-207, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25783594

RESUMO

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2.17 × 10(-5)). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3.50 × 10(-4)). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability.


Assuntos
Proteínas de Ligação a DNA/genética , Epilepsia Reflexa/genética , Predisposição Genética para Doença , Mutação/genética , Animais , Eletroencefalografia , Técnicas de Silenciamento de Genes/métodos , Humanos , Estimulação Luminosa/métodos , Fatores de Risco , Peixe-Zebra
16.
Epilepsy Behav ; 64(Pt A): 242-247, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27770719

RESUMO

PURPOSE: The purpose of this article was to study the electroclinical characteristics and seizure outcome of children with epilepsy with myoclonic absences (EMA). METHOD: In this descriptive cohort study, we reviewed clinical records of patients who met the criteria for EMA. Each patient's demographic data, birth/developmental history, seizure semiology/pattern, antiepileptic drugs (AED), clinical examination, video-electroencephalography (VEEG), and neuroimaging data were reviewed. Response to AED and change in seizure frequency/pattern on follow-up were noted. Responders were defined by seizure freedom/>50% reduction in seizure frequency on follow-up. RESULT: Twelve children were diagnosed with EMA between 2008 and 2013 [50% male; mean age of onset: 3.5years]. Main seizure types were the characteristic myoclonic absences (100%) and generalized tonic-clonic seizures (42%). Ictal correlate on VEEG was 3- to 3.5-Hz spike-and-wave discharges (82%) and fast recruiting bifrontal rhythm (25%). One patient had specific MRI abnormalities. Mean duration of follow-up was 23.9months. Seizure frequency had significantly improved on follow-up (p=0.005), and at last follow-up, nine patients were in the responder group: four seizure-free for at least 1year, two with >90%, and three with >50% reduction in seizure frequency. The number of AED reduced significantly between initial visit and last follow-up among responders. Two patients on follow-up developed different seizure patterns, with generalized tonic and complex partial seizures. One responder expired because of unprovoked generalized convulsive status epilepticus. CONCLUSION: This cohort, the largest from the Indian subcontinent on the rare syndrome of EMA, suggests mild heterogeneity in a seemingly homogenous electroclinical phenotype. Clinical semiology while unique may demonstrate focality and variable ictal patterns. Most patients respond to either valproate monotherapy or valproate-lamotrigine combination; however, the prognosis remains guarded. The seizures of a minority of patients remain drug-refractory and may evolve into tonic or complex partial seizures.


Assuntos
Encéfalo/fisiopatologia , Epilepsias Mioclônicas/fisiopatologia , Convulsões/fisiopatologia , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Estudos de Coortes , Quimioterapia Combinada , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/tratamento farmacológico , Feminino , Humanos , Lamotrigina , Masculino , Fenótipo , Prognóstico , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Resultado do Tratamento , Triazinas/uso terapêutico , Ácido Valproico/uso terapêutico
18.
Epilepsy Behav ; 52(Pt A): 260-3, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26492104

RESUMO

Jeavons syndrome (JS, eyelid myoclonia with absences [EMA]) consists of a triad of symptoms including eyelid myoclonia that may be accompanied by absence seizures, eye closure-induced EEG paroxysms or seizures, and photosensitivity. The age of onset ranges between 2 and 14 years with symptoms peaking between 6 and 8 years of age. Though investigation of the clinical, EEG, and neurological features of JS has occurred, neurocognitive functioning has not been well-delineated despite suggestion that a subtype of the syndrome is characterized in part by cognitive impairment. The purpose of this study was to define neurocognitive functioning in a more detailed manner by examining global IQ and relevant neurocognitive domains (i.e., verbal and nonverbal reasoning, attention, executive functioning, memory) in pediatric patients. The sample (N=6, 4 females) ranged in age from 8 to 15 years (M=11, SD=2.82). All participants completed neuropsychological evaluations. Statistical analyses revealed performance that was below average on measures of global IQ, processing speed and rote, verbal learning coupled with average nonverbal reasoning, and sustained attention. There was also evidence of impaired higher-level verbal reasoning. While global IQ ranged from low average to borderline impaired, no participant could be accurately described as impaired or having intellectual disability (ID) given the consistently average performance noted on some higher-order tasks including nonverbal reasoning.


Assuntos
Transtornos Cognitivos/psicologia , Epilepsia Tipo Ausência/psicologia , Mioclonia/psicologia , Adolescente , Idade de Início , Atenção , Criança , Pré-Escolar , Transtornos Cognitivos/etiologia , Eletroencefalografia , Função Executiva , Feminino , Humanos , Testes de Inteligência , Aprendizagem , Masculino , Memória , Processos Mentais , Testes Neuropsicológicos , Síndrome , Escalas de Wechsler
19.
Epilepsy Behav ; 45: 265-70, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25819946

RESUMO

OBJECTIVES: Eyelid myoclonia (EM), without or with absences (EMA), is induced by eye closure (ECL)-associated generalized paroxysms of polyspikes and waves. Although considered as an epileptic syndrome, it has been listed as a type of seizure in the recent epilepsy classifications, perhaps because of its clinical heterogeneity. In this study, we aimed to specifically study the clinical and electroencephalogram (EEG) features and the prognosis of long-term followed-up adult patients with EMs and to determine common points between EMAs, idiopathic generalized epilepsies (IGEs), and symptomatic epilepsies. METHODS: Between 1996 and November 2011, 61 adult patients with EMs with or without absences and bilateral EEG paroxysms were retrospectively enrolled in the study and followed up for 1-34 years (mean: 5.8 years). RESULTS: According to patient history, seizure semiology, and EEG findings, we classified the patients having EM seizures into three main groups. In group 1 (n=31), all patients had prominent EMs with or without absences associated with upward rolling of eyeballs. The second group included 20 patients with EM seizures associated with generalized tonic-clonic seizures (GTCSs) and/or massive myoclonias. The third group of 7 patients had varying diagnosis of symptomatic epilepsies. In the first group with pure EMA, the diagnosis was more delayed than in the other groups (p=0.01). In the group with pure EMA, EMs continued in adulthood (p=0.00), and only 24% of patients were seizure-free, which was considered poor prognosis. On EEG, occipital (n=3) and frontal (n=4) focal discharges were found in the group with pure EMA. Interestingly, 2 patients with symptomatic epilepsy with frontal lesions also had EM seizures. CONCLUSION: The patients with pure EMA have many similarities to patients with IGEs. We also demonstrated that EMs could be seen as a seizure type in symptomatic epilepsies. Eyelid myoclonia with absences meets the criteria for an epileptic syndrome with the early onset and long duration of seizures, special seizure type, specific EEG findings, possibility of cognitive impairment, precipitating modalities, photosensitivity, and presence of family history, suggesting a strong genetic background.


Assuntos
Epilepsias Mioclônicas/diagnóstico , Epilepsia Generalizada/diagnóstico , Mioclonia/diagnóstico , Convulsões/diagnóstico , Adulto , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/fisiopatologia , Epilepsia Generalizada/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Mioclonia/complicações , Mioclonia/fisiopatologia , Estudos Retrospectivos , Convulsões/complicações , Convulsões/fisiopatologia , Síndrome , Adulto Jovem
20.
Scand J Public Health ; 43(4): 432-40, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25816861

RESUMO

AIMS: Studies show a negative association between an absence from work due to disease of injury (sickness absence (SA)) and subsequent earnings; however, little is known about the association between SA and an individuals' subsequent overall economic welfare. Our primary objective was to evaluate individuals' disposable income (DI) following a spell of SA. Our secondary objective was to examine if the potential association between SA and DI differs, depending on the diagnosis given to that sickness or the duration of the SA spell. METHODS: We used a cohort based on a linked individual register database that includes all individuals living in Sweden from 2001 to 2005, aged 30-54. DI was measured 2-6 years after a spell of SA and compared with a propensity score-matched reference group (individuals without SA in 2005). Each year of follow-up during 2007-2011 was estimated by linear regression for three different forms of exposure: SA (yes/no), diagnosis specific (cancer, circulatory, injuries, musculoskeletal or mental illnesses), and by duration of the SA spell (15-29, 30-89, 90-179 or > 179 days). RESULTS: Individuals with SA during 2005 had 4% lower disposable income in subsequent years than the reference group. Our results were similar across diagnoses, except for mental diagnoses, where disposable income was 7-10% lower than the reference group; and for cancer, where we found only a marginal difference among those with SA and the reference group. Furthermore, DI was negatively associated with the SA spell duration. CONCLUSIONS: SA was associated with lower subsequent DI, 2­6 years after a SA spell, especially after a mental illness diagnosis and if the SA was for longer spells.


Assuntos
Absenteísmo , Renda/estatística & dados numéricos , Licença Médica/estatística & dados numéricos , Adulto , Estudos de Coortes , Diagnóstico , Feminino , Humanos , Masculino , Transtornos Mentais/diagnóstico , Pessoa de Meia-Idade , Sistema de Registros , Suécia , Fatores de Tempo
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