RESUMO
OBJECTIVE: The accurate prediction of seizure freedom after epilepsy surgery remains challenging. We investigated if (1) training more complex models, (2) recruiting larger sample sizes, or (3) using data-driven selection of clinical predictors would improve our ability to predict postoperative seizure outcome using clinical features. We also conducted the first substantial external validation of a machine learning model trained to predict postoperative seizure outcome. METHODS: We performed a retrospective cohort study of 797 children who had undergone resective or disconnective epilepsy surgery at a tertiary center. We extracted patient information from medical records and trained three models-a logistic regression, a multilayer perceptron, and an XGBoost model-to predict 1-year postoperative seizure outcome on our data set. We evaluated the performance of a recently published XGBoost model on the same patients. We further investigated the impact of sample size on model performance, using learning curve analysis to estimate performance at samples up to N = 2000. Finally, we examined the impact of predictor selection on model performance. RESULTS: Our logistic regression achieved an accuracy of 72% (95% confidence interval [CI] = 68%-75%, area under the curve [AUC] = .72), whereas our multilayer perceptron and XGBoost both achieved accuracies of 71% (95% CIMLP = 67%-74%, AUCMLP = .70; 95% CIXGBoost own = 68%-75%, AUCXGBoost own = .70). There was no significant difference in performance between our three models (all p > .4) and they all performed better than the external XGBoost, which achieved an accuracy of 63% (95% CI = 59%-67%, AUC = .62; pLR = .005, pMLP = .01, pXGBoost own = .01) on our data. All models showed improved performance with increasing sample size, but limited improvements beyond our current sample. The best model performance was achieved with data-driven feature selection. SIGNIFICANCE: We show that neither the deployment of complex machine learning models nor the assembly of thousands of patients alone is likely to generate significant improvements in our ability to predict postoperative seizure freedom. We instead propose that improved feature selection alongside collaboration, data standardization, and model sharing is required to advance the field.
Assuntos
Epilepsia , Criança , Humanos , Estudos Retrospectivos , Resultado do Tratamento , Epilepsia/diagnóstico , Epilepsia/cirurgia , Convulsões/diagnóstico , Convulsões/cirurgia , Aprendizado de MáquinaRESUMO
The aim of the study was to gain a comprehensive understanding of the experiences and needs of parents of young children with epilepsy from a total population sample. The parents (mothers (nâ¯=â¯38), fathers (nâ¯=â¯9)) of 40/53 (75% of total population) young children (1-7â¯years; 23 males, 17 females) with 'active' epilepsy (had a seizure in the last year or taking Anti-epileptic drugs (AEDs)) were interviewed either in person or over the telephone using a semistructured interview schedule. The families were resident in the south of the UK. The interviews were audio-recorded, transcribed, and coded using thematic analysis. Thematic analysis revealed six main themes: diagnostic journey, parental perception of epilepsy management, awareness and impact of associated neurobehavioral difficulties, inconsistent availability of therapeutic and educational supports, impact on family functioning, and need for parental support. Parents reported often having difficulty accessing a professional knowledgeable about epilepsy. While parents were generally satisfied with the initial information they received about seizures and their management, they reported that the association between epilepsy and neurobehavioral issues was often not broached. These developmental/behavioral difficulties often had a bigger impact on child wellbeing and family functioning, but provision of therapeutic and educational supports for the difficulties was often very patchy. Parents noted that early onset epilepsy and associated neurobehavioral difficulties often have a very significant impact on family functioning including increased restrictions on family activities and increased financial burden. Parents would like informational and emotional support to extend beyond the time of epilepsy diagnosis. There is a clear need for comprehensive childhood epilepsy services to include provision for identification and management of child neurobehavioral needs and a focus on family-centered care.
Assuntos
Epilepsia/enfermagem , Necessidades e Demandas de Serviços de Saúde , Pais/psicologia , Apoio Social , Adulto , Criança , Pré-Escolar , Epilepsia/economia , Epilepsia/psicologia , Feminino , Humanos , Lactente , Masculino , Pesquisa QualitativaRESUMO
AIM: There are limited population-based data on global development and adaptive behaviour in children with early-onset epilepsy. The aims of this study were: (1) to identify the prevalence of deficits in global development and adaptive behaviour experienced by children with early-onset epilepsy; (2) to identify factors associated with such deficits; and (3) to compare the relationship between measures of neurodevelopment in the group with epilepsy to a group without epilepsy who had other neurological or neurodevelopmental difficulties. METHOD: The Sussex Early Epilepsy and Neurobehaviour study is a prospective, community-based study involving children (1-7y) with epilepsy. We undertook comprehensive psychological assessment with participants, including measures of global development and adaptive behaviour. We compared the children with epilepsy with a sex, age, and developmentally-matched group of children without epilepsy who had neurodevelopmental or neurological difficulties using correlation matrices. RESULTS: Forty-eight children (91% of the eligible population) with epilepsy underwent assessment. Seventy-one per cent of children displayed delayed global development (<2SD) and 56% showed significant deficits (<2SD) in adaptive behaviour. Our analysis revealed that non-white ethnicity and use of polytherapy were independently associated with decreased scores on measures of global development and adaptive behaviour. The correlations between measures of developmental functioning were higher in children with epilepsy than in those without. INTERPRETATION: Children with early-onset epilepsy frequently have difficulties with global development and adaptive behaviour. The higher correlations between neurodevelopmental measures in children with epilepsy suggest that the profile in children with epilepsy is different. This may have significant implications for both neuropathology and interventions. WHAT THIS PAPER ADDS: Children with early-onset epilepsy are at significant risk of intellectual disability. Developmental impairment is associated with use of polytherapy but not with any seizure parameters. Developmental profiles in young children with epilepsy differ from other conditions.
Assuntos
Adaptação Psicológica/fisiologia , Epilepsia/epidemiologia , Epilepsia/fisiopatologia , Transtornos do Neurodesenvolvimento/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Planejamento em Saúde Comunitária , Feminino , Humanos , Lactente , Deficiência Intelectual/etiologia , Masculino , Transtornos do Neurodesenvolvimento/epidemiologia , Testes Psicológicos , Estudos RetrospectivosRESUMO
The aim was to provide data on parenting stress and perceived stigma in mothers (nâ¯=â¯47) of young children with epilepsy, and to compare findings with those of mothers (nâ¯=â¯48) of developmental, age- and gender-matched children with nonepilepsy-related neurodisability (neurological and/or neurodevelopmental concerns). The mothers of young children (1-7â¯years) with epilepsy and mothers of children with neurodisability in a defined geographical area of the UK, completed the Parenting Stress Index-4th Edition (PSI-4) and a measure of perceived stigma. Factors associated with parenting stress and stigma were analyzed using linear regression. Thirty-eight percent of mothers of children with epilepsy scored in the at-risk range (>85th percentile) on the Total Stress score of the PSI-4 (Neurodisability 21%) (pâ¯=â¯0.06). Significantly more mothers of children with epilepsy scored in the at-risk range on the Parent-Child Dysfunctional Interaction subscale than mothers of children with neurodisability (Epilepsy 45% vs. Neurodisability 21%; pâ¯=â¯0.01), but not on the Parental Distress subscale (Epilepsy 32% vs. Neurodisability 23%; pâ¯=â¯0.33) or Difficult Child (Epilepsy 57% vs. Neurodisability 46%; pâ¯=â¯0.26) subscales. There was no statistically significant difference in perceived stigma between mothers in both groups (pâ¯=â¯0.51). Factors significantly associated with increased parenting stress in the group with epilepsy were child behavior difficulties (pâ¯<â¯0.001) and maternal sleep difficulties (pâ¯=â¯0.02). Lower child developmental level was the only factor independently associated with increased stigma in the group with epilepsy (pâ¯=â¯0.08). Mothers of young children with epilepsy report high levels of parenting stress and higher levels of difficulties with parent-child interaction compared with that of mothers of children with nonepilepsy-related neurodisability. Parenting stress and stigma in epilepsy were not associated with epilepsy factors. Efforts at reducing parenting stress and stigma should focus on interventions targeting child development and maternal sleep.
Assuntos
Epilepsia/psicologia , Mães/psicologia , Poder Familiar/psicologia , Estigma Social , Adulto , Estudos de Casos e Controles , Criança , Comportamento Infantil/psicologia , Pré-Escolar , Feminino , Humanos , Lactente , Relações Pais-Filho , Análise de Componente Principal , Análise de Regressão , Distúrbios do Início e da Manutenção do Sono/psicologia , Estresse Psicológico/etiologia , Estresse Psicológico/fisiopatologia , Inquéritos e Questionários , Reino UnidoRESUMO
The objective was to provide population-based data on depression, anxiety, and stress in parents of young children with epilepsy and to compare findings with those of parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (neurological and/or neurodevelopmental concerns). The parents (mothers and fathers) of 47 (89% ascertainment) young children (1-7years) with epilepsy in a defined geographical area of the UK completed the Depression Anxiety Stress Scales - Short Form (DASS-21), a screening measure for depression, anxiety, and stress. The responses of parents of children with epilepsy were compared with parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (n=48). Factors associated with parental symptoms were analyzed using regression. In the group with epilepsy, 47 mothers and 39 fathers completed the DASS-21. Seventy-two percent of mothers scored in the at-risk range on at least one DASS-21 subscale (Fathers 49%). Mothers of children with epilepsy were significantly more likely to score in the at risk range than fathers on depression (55% vs. 33%), anxiety (47% vs. 26%), and stress (55% vs. 31%) subscales (all p<0.05). Mothers of children with epilepsy were also significantly more likely to score in the at-risk range than mothers of children with neurodisability on measures of depression (p=0.005) and stress (p=0.03). There was not a significant difference between fathers in both groups on any measures. In the group with epilepsy, increased child emotional-behavioral difficulties were associated with increased DASS-21 scores on multivariable analysis (p=0.04). Mothers of young children with epilepsy are at high risk for mental health difficulties, and all should be screened for such difficulties. There is a need to explore what parent and/or child focused interventions might be useful to reduce the mental health difficulties reported by mothers of young children with epilepsy.
Assuntos
Ansiedade/diagnóstico , Cuidadores/psicologia , Depressão/diagnóstico , Epilepsia/diagnóstico , Pais/psicologia , Qualidade de Vida/psicologia , Estresse Psicológico/diagnóstico , Adulto , Ansiedade/psicologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Depressão/psicologia , Emoções , Epilepsia/psicologia , Pai/psicologia , Feminino , Inquéritos Epidemiológicos , Humanos , Lactente , Masculino , Saúde Mental , Mães/psicologia , Escalas de Graduação Psiquiátrica , Estresse Psicológico/psicologia , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To provide data on the health, social care, and education costs of active childhood epilepsy and factors associated with these costs over an 18-month period in a population-based sample. METHODS: The Children with Epilepsy in Sussex Schools (CHESS) study is a population-based study involving school-aged children (5-15 years) with active epilepsy (taking one or more antiepileptic drug and/or had a seizure in the last year) in a defined geographical area in England. Clinical data were collected on 85 children (74% of eligible population) who underwent comprehensive psychological assessment. Health, education, and social care resource use was collected retrospectively over an 18-month period. Regression analysis was used to identify variables associated these with costs. RESULTS: The mean (standard deviation) 18-month cost of health care for a child with active epilepsy was £3,635 (£5,339), with mean education and social care cost of £11,552 (£8,937) and £1,742 (£8,158), respectively, resulting in total mean costs per participant of £16,931 (£14,764). Health care costs were significantly associated with seizure frequency and etiology (all p-values < 0.05). Combined health care, social care, and education costs were significantly related to cognitive impairment (intelligence quotient [IQ] <85) and seizure frequency (p < 0.05). The mean cost of health care, social care, and education over 18 months for participants with cognitive impairment was £23,579 (95% confidence interval [CI] £16,489-£30,670) compared to £7,785 (95% CI £4,943-£10,627) for those without impairment. SIGNIFICANCE: Active childhood epilepsy has significant health, social care, and education costs. This is the first study to comprehensively document the economic impact on these sectors as well as factors associated with these costs. When caring for children with epilepsy in England, costs incurred by education and social care sectors are approximately four times the costs incurred by the health care sector. Increased costs were associated with cognitive impairment (IQ <85) and weekly or greater seizure frequency.
Assuntos
Educação/economia , Epilepsia/economia , Custos de Cuidados de Saúde , Vigilância da População , Fatores Sociológicos , Estudantes , Adolescente , Criança , Pré-Escolar , Epilepsia/epidemiologia , Epilepsia/terapia , Feminino , Custos de Cuidados de Saúde/tendências , Humanos , Masculino , Vigilância da População/métodos , Estudos RetrospectivosRESUMO
The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5'-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5'-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of the PNPO gene was undertaken for a cohort of 82 individuals who had shown a reduction in frequency and severity of seizures in response to pyridoxine or pyridoxal 5'-phosphate. Novel sequence changes were studied using a new cell-free expression system and a mass spectrometry-based assay for pyridoxamine phosphate oxidase. Three groups of patients with PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5'-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5'-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 8). Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine. Other mutations seem to be associated with infertility, miscarriage and prematurity. However, the situation is clearly complex with the same combination of mutations being seen in patients who responded and did not respond to pyridoxine. It is possible that pyridoxine responsiveness in PNPO deficiency is affected by prematurity and age at the time of the therapeutic trial. Other additional factors that are likely to influence treatment response and outcome include riboflavin status and how well the foetus has been supplied with vitamin B6 by the mother. For some patients there was a worsening of symptoms on changing from pyridoxine to pyridoxal 5'-phosphate. Many of the mutations in PNPO affected residues involved in binding flavin mononucleotide or pyridoxal 5'-phosphate and many of them showed residual enzyme activity. One sequence change (R116Q), predicted to affect flavin mononucleotide binding and binding of the two PNPO dimers, and with high residual activity was found in Groups (ii) and (iii). This sequence change has been reported in the 1000 Genomes project suggesting it could be a polymorphism but alternatively it could be a common mutation, perhaps responsible for the susceptibility locus for genetic generalized epilepsy on 17q21.32 (close to rs72823592). We believe the reduction in PNPO activity and B6-responsive epilepsy in the patients reported here indicates that it contributes to the pathogenesis of epilepsy.
Assuntos
Meio Ambiente , Epilepsia/genética , Mutação/genética , Piridoxaminafosfato Oxidase/genética , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/terapia , Feminino , Células HeLa , Humanos , Lactente , Masculino , Mutagênese Sítio-Dirigida/métodos , Fosfato de Piridoxal/uso terapêutico , Piridoxaminafosfato Oxidase/metabolismo , Transfecção , Adulto JovemRESUMO
METHODS: Children (5-15 years) with active epilepsy were screened using the parent-report (n=69) and self-report (n=48) versions of the Spence Children's Anxiety Scale (SCAS) and the self-report version of the Children's Depression Inventory (CDI) (n=48) in a population-based sample. RESULTS: A total of 32.2% of children (self-report) and 15.2% of children (parent-report) scored ≥1 SD above the mean on the SCAS total score. The subscales where most difficulty were reported on parent-report were Physical Injury and Separation Anxiety. There was less variation on self-report. On the CDI, 20.9% of young people scored ≥1 SD above the mean. Children reported significantly more symptoms of anxiety on the SCAS total score and three of the subscales (p<.05). There was a significant effect on the SCAS total score of respondents by seizure type interaction, suggesting higher scores on SCAS for children with generalized seizures on self- but not parent-report. Higher CDI scores were significantly associated with generalized seizures (p>.05). SUMMARY: Symptoms of anxiety were more common based on self-report compared with parent-report. Children with generalized seizures reported more symptoms of depression and anxiety.
Assuntos
Ansiedade/psicologia , Depressão/psicologia , Epilepsia/psicologia , Adolescente , Anticonvulsivantes/uso terapêutico , Ansiedade/etiologia , Ansiedade de Separação/psicologia , Criança , Pré-Escolar , Depressão/etiologia , Epilepsia/complicações , Epilepsia Generalizada/complicações , Epilepsia Generalizada/psicologia , Feminino , Humanos , Masculino , Pais , População , Escalas de Graduação Psiquiátrica , AutorrelatoRESUMO
In a defined geographical area in the south of the UK, 115 children with active epilepsy (i.e., children who had seizures in the last year and/or children who were taking antiepileptic drugs (AEDs)) were identified via a computerized database and liaison with local pediatricians. Eighty-five (74%) of the children (5-15years of age) underwent a comprehensive psychological assessment. Twenty-one percent of the children met the DSM-IV-TR criteria for ASD, and 61% of those with ASD had another DSM-IV-TR behavioral or motor disorder. The Autism Spectrum Screening Questionnaire (ASSQ) was completed by parents (n=69) and by teachers (n=67) of children with an IQ>34. Only 9% of children on parent ratings and 15% of children on teacher ratings had no features of ASD. Parents reported significantly (p<.05) more features of ASD on the ASSQ compared with teachers. Factors significantly associated with responses on the ASSQ included respondent (parents reported more features), school placement (more features in specialized settings), and respondent by school placement interaction. Effective screening for ASD in children with epilepsy will need a consideration of the impact of informant and school placement on ratings. In conclusion, features of ASD were common in children with epilepsy regardless of cognitive ability. The ASSQ was a useful screening instrument in this population, and combining parent and teacher forms was optimal in terms of screening properties.
Assuntos
Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Epilepsia/diagnóstico , Adolescente , Criança , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Pré-Escolar , Comorbidade , Epilepsia/epidemiologia , Docentes , Feminino , Humanos , Masculino , Pais , Escalas de Graduação Psiquiátrica/normas , Reino Unido/epidemiologiaRESUMO
AIMS: To provide data on parent-reported features of developmental coordination disorder (DCD) and describe neurobehavioural comorbidity in children with epilepsy and DCD. METHOD: Eighty-five (74% of those eligible) children (44 males, 41 females; age range 5-15y) with active childhood epilepsy (an epileptic seizure in the last year and/or currently taking antiepileptic drugs) in a population-based cohort underwent comprehensive multidisciplinary assessment. The DCD Questionnaire (DCD-Q) was completed by parents (n=69) of children with an IQ>34, of whom 56 did not have cerebral palsy (CP), and were considered for a diagnosis of DCD. RESULTS: Of those considered for a DCD diagnosis, 16 (29%) met DSM-IV-TR criteria whereas 34 (61%) scored in the at-risk range on the DCD-Q. The sensitivity of the DCD-Q was 100% (95% CI 76-100) and specificity was 55% (95% CI 39-70). Significant predictors of higher scores on the DCD-Q included the presence of autism spectrum disorder, CP, and early seizure onset. Increasing age and IQ were independently associated with higher DCD-Q scores. Intellectual disability, attention-deficit-hyperactivity disorder, academic underachievement, and specific memory problems were the most common neurobehavioural difficulties in those with both DCD and epilepsy. INTERPRETATION: Parent-reported symptoms of DCD are very common in childhood epilepsy. The DCD-Q has good sensitivity but lower specificity in this population.
Assuntos
Deficiências do Desenvolvimento , Epilepsia/epidemiologia , Transtornos das Habilidades Motoras , Adolescente , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Planejamento em Saúde Comunitária , Bases de Dados Factuais/estatística & dados numéricos , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Feminino , Humanos , Masculino , Transtornos das Habilidades Motoras/complicações , Transtornos das Habilidades Motoras/diagnóstico , Transtornos das Habilidades Motoras/epidemiologia , Pais/psicologia , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To provide population-based data on the performance of school-aged children with epilepsy on measures of academic achievement and factors associated with this performance after controlling for IQ. METHODS: Eighty-five (74%) of 115 children with "active" epilepsy (experienced a seizure in the past year and/or on antiepileptic drugs [AEDs]) underwent psychological assessment including measures of IQ, aspects of working memory and processing speed. Sixty-five of the 85 were able to complete subtests on the Wide Range Achievement Test-Fourth Edition (WRAT-4). Paired sample t-tests were conducted to compare subtest scores. Factors associated with academic performance after controlling for IQ were examined using linear regression. RESULTS: Seventy-two percent of the children, who could complete subtests on the WRAT-4, displayed "low achievement" (1 standard deviation [SD] below test mean) and 42% displayed "underachievement" (1 SD below assessed IQ) on at least one of the four WRAT-4 subtests. The mean scores on the Math Computation subtest and Sentence Comprehension subtest were significantly lower than scores on the Word Reading (p < 0.05) and Spelling (p < 0.001) subtests. Younger age at seizure onset was associated (p < 0.05) with decreased scores on three of the four WRAT-4 subtests after controlling for IQ. Difficulties with auditory working memory were associated with difficulties on reading comprehension (p < 0.05), and parent-reported difficulties with school attendance were associated with decreased scores on the Spelling and Word Reading subtests after controlling for IQ (p < 0.05). SIGNIFICANCE: Difficulties with academic achievement are common in school-aged children with "active" epilepsy. Much of the difficulties can be attributed to lowered global cognition. However, specific cognitive deficits, younger onset of first seizure, and school attendance difficulties may contribute to difficulties independent of global cognition. There is a need to screen all children with "active" epilepsy for difficulties in school achievement, to identify contributory factors and to identify efficacious interventions for ameliorating such difficulties.
Assuntos
Epilepsia/complicações , Epilepsia/psicologia , Deficiências da Aprendizagem/etiologia , Baixo Rendimento Escolar , Logro , Adolescente , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Planejamento em Saúde Comunitária , Escolaridade , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Feminino , Humanos , Deficiências da Aprendizagem/epidemiologia , Masculino , Reino UnidoRESUMO
One of the considerations when a child presents with paroxysmal events is psychogenic nonepileptic seizures (PNES). PNES are discernible changes in behavior or consciousness that resemble epileptic seizures but are not accompanied by electrophysiologic changes. They are usually understood as the manifestation of a conversion disorder that reflects underlying psychological distress. There is a lack of population-based data on the prevalence or incidence of PNES in pediatric populations. The prevalence of PNES in children would appear to be lower than that in the adult population, but the prevalence of PNES seems to increase with age, and nonepileptic paroxysmal events are more likely to be PNES in adolescence than earlier in childhood. In terms of manifestation, PNES in childhood have been described using various categorizations and terminology, making comparisons across studies difficult. There is some evidence that events are more likely to involve unresponsiveness in younger children and prominent motor symptoms in older children. The most common precipitating factors would appear to be school-related difficulties and interpersonal conflict within the child's family. In terms of psychopathology, children with PNES are at high risk for symptoms of depression and anxiety. Accurate diagnosis of PNES in children is likely to involve taking a comprehensive description of the episodes, garnering the child's medical/developmental history, video-electroencephalography (video-EEG) to rule out epileptic seizures, and an evaluation of family functioning. The importance of effective and sensitive communication of the diagnosis of PNES has been emphasized and management approaches will typically involve multidisciplinary efforts to safely manage the events at home and at school. Interventions to reduce the effect of precipitating psychosocial stressors and the involvement of a mental health professional to treat comorbid psychopathology will also form part of an effective management plan. Outcome at follow-up is reported to be largely positive, although studies have not been able to follow all children, and few studies have focused on predictors of a good outcome. Future controlled intervention studies using a range of outcome measures are needed to identify efficacious approaches and predictors of best outcome.
Assuntos
Convulsões/etiologia , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Masculino , Psicopatologia , Convulsões/diagnóstico , Convulsões/fisiopatologia , Convulsões/terapia , Estresse Psicológico/complicaçõesRESUMO
PURPOSE: To provide data on the prevalence of Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), and parent reported behaviour difficulties in young children with epilepsy, and to compare results with children with neurodisability (neurodevelopmental/neurological difficulties) without epilepsy. METHOD: Children with epilepsy (1-7 years, nâ¯=â¯48) and children with neurodisability (1-7 years, nâ¯=â¯48) matched for gender, chronological and developmental age underwent psychological assessment. Parents completed measures of behaviour including the Strengths and Difficulties Questionnaire (SDQ). DSM-5 diagnoses of ASD and ADHD were made at consensus case conferences. Factors associated with child behaviour were analysed using linear regression. RESULTS: Of the children with epilepsy, 18% met ASD criteria and 40% met ADHD criteria (corresponding figures in the non-epilepsy group were 41% and 27%). A large proportion (76%-78%) in both groups scored in the at-risk range on the SDQ and frequently had difficulties across multiple behavioural domains. Children with epilepsy had more concerns expressed regarding attention and mood. None of the epilepsy factors were significantly associated with scores on the behavioural measures. SIGNIFICANCE: Young children with epilepsy had a very high level of parent reported behavioural difficulties and a high risk for ADHD and ASD highlighting the need for comprehensive multidisciplinary assessment. Behavioural concerns were not greater than for other children with non-epilepsy related neurodisability with the exception of attention and mood. Epilepsy related factors were not associated with child behaviour, suggesting that seizures per se do not confer a unique risk for behavioural difficulties.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Comportamento Infantil , Epilepsia/epidemiologia , Comportamento Problema , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Epilepsia/complicações , Feminino , Humanos , Lactente , Masculino , PaisRESUMO
Accurate diagnosis of a distinct epilepsy syndrome is based on well-defined electroclinical features that differentiate separate nosological entities. In clinical practice, however, syndromes may overlap and cases may present with unusual manifestations posing a diagnostic challenge. This heterogeneity has been documented in several cases presenting with eyelid myoclonia with or without absences (EMA) diagnosed either as Jeavons syndrome (JS) variants or as genetic generalised epilepsies defined by the presence of this unique clinical entity. The hallmark of JS is the triad: (1) eyelid myoclonia with or without absences, (2) eye closure-induced paroxysms, and (3) photosensitivity. The presence of massive myoclonus, intellectual disability, or slowing of the EEG background are not typical features of the syndrome and may cause delay in making the correct diagnosis. Adding to the variability of clinical features, we describe two female paediatric patients with probable genetic epilepsy who presented with EMA but demonstrated clear atypical features, such as prominent myoclonic seizures, atonic components on video-EEG, and cognitive impairment. We also note the presence of interictal and ictal posterior discharges during eyelid myoclonia in one, supporting similar previous observations leading to consideration of EMA as an occipital cortex-initiated seizure activity. [Published with video sequences on www.epilepticdisorders.com].
Assuntos
Epilepsias Mioclônicas/diagnóstico , Epilepsia Generalizada/diagnóstico , Mioclonia/diagnóstico , Adolescente , Criança , Eletroencefalografia , Epilepsias Mioclônicas/classificação , Epilepsias Mioclônicas/fisiopatologia , Epilepsia Generalizada/classificação , Epilepsia Generalizada/fisiopatologia , Feminino , Humanos , Mioclonia/classificação , Mioclonia/fisiopatologiaRESUMO
OBJECTIVE: To determine the prevalence of parent-reported sleep problems in young children with epilepsy and their parents, and to compare findings with those in a non-epilepsy-related neurodisability (neurodevelopmental/neurological difficulties) group. METHOD: Parents of young children (1-7 years) with epilepsy (n = 48 [91% ascertainment]) completed the Child Sleep Habits Questionnaire (CSHQ). Parents (mothers and fathers) also completed the Pittsburgh Sleep Quality Index (PSQI) and the Iowa Fatigue Scale (IFS) in relation to their own functioning. The responses of parents of children with epilepsy were compared with parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (n = 48). RESULTS: There was not a significant difference in the proportion of children with epilepsy and the children with neurodisability scoring in the at-risk range on the CSHQ (81% vs. 71% respectively) (p = 0.232). 62% of mothers and 44% of fathers of children with epilepsy had 'poor quality sleep' on the PSQI; there was not a significant difference between mothers of children with epilepsy and those of children with neurodisability (p = 0.526) or IFS (p = 0.245) total scores. However, mothers of children with epilepsy had significantly more difficulties on the productivity subscale of the IFS (p = 0.004). There were no significant differences between fathers' scores on either measure. In the epilepsy group, child behavioral problems (p = 0.001) were independently associated with child sleep difficulties and maternal mental health problems were associated with parental sleep difficulties (p = 0.04) and fatigue (p = 0.018). SIGNIFICANCE: Young children with epilepsy and their parents have a high rate of sleep difficulties. There is a need to develop effective interventions for this population, taking into consideration of the role of child behavioral problems and parental mental health difficulties.
RESUMO
Video telemetry in a 15-year-old boy with moderate learning difficulties revealed episodes of staring and cessation of activity, followed by sudden stiffening of the body for several seconds, abduction of the arms and a brief vocal utterance ("ugh"). Each episode lasts around 30 seconds, 3-4 times/day despite treatment. The EEG showed generalized 3-4Hz spike-wave discharges during the "absence" period followed immediately by a run of fast polyspikes typical of a tonic seizure, terminating in a run of 1-2 Hz sharp-slow wave complexes. Although tonic-absence seizures have been reported rarely, the clinical sequence appears to be reversed in this patient, with the occurrence of "absence-tonic" attacks. We present video documentation of such attacks and discuss their nosology.[Published with video sequences].
Assuntos
Eletroencefalografia/estatística & dados numéricos , Epilepsia Tipo Ausência/diagnóstico , Epilepsia Generalizada/diagnóstico , Adolescente , Comorbidade , Epilepsia Tipo Ausência/epidemiologia , Epilepsia Generalizada/epidemiologia , Humanos , Masculino , Fenótipo , Telemetria , Terminologia como Assunto , Gravação de VideoteipeRESUMO
OBJECTIVE: Provide data on the distribution of parent- and teacher-reported symptoms of ADHD in childhood epilepsy and describe coexisting cognitive and behavioral disorders in children with both epilepsy and ADHD. METHOD: Eighty-five (74% of those eligible) children (5-15 years) in a population-based sample with active epilepsy underwent psychological assessment. The ADHD Rating Scale-IV (ADHD-RS-IV) scale was completed by parents ( n = 69) and teachers ( n = 67) of participating children with an IQ > 34. ADHD was diagnosed with respect to Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.). RESULTS: Parents reported significantly more symptoms of ADHD than teachers ( p < .001). Symptoms of inattention were more commonly reported than symptoms of hyperactivity-impulsivity ( p < .001). Neurobehavioral comorbidity was similar in those with ADHD and non-ADHD with the exception of oppositional defiant disorder (ODD) and developmental coordination disorder (DCD), which were more common in those with both epilepsy and ADHD. CONCLUSION: Symptoms of ADHD are very common in childhood epilepsy but prevalence is influenced by informant.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Epilepsia/epidemiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/psicologia , Criança , Pré-Escolar , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Inglaterra/epidemiologia , Epilepsia/psicologia , Docentes , Feminino , Humanos , Comportamento Impulsivo/fisiologia , Masculino , Pais , Prevalência , Comportamento Problema , Estudos Prospectivos , Professores EscolaresRESUMO
We report a retrospective case study of the use of clomethiazole for treatment of non-convulsive status epilepticus in a patient not responding to benzodiazepines, illustrated by EEG and video. Clomethiazole can be considered as a safe oral option for management of non-convulsive status epilepticus when conventional treatment has failed. [Published with video sequences online].
Assuntos
Benzodiazepinas/uso terapêutico , Encéfalo/fisiopatologia , Clormetiazol/uso terapêutico , Estado Epiléptico/tratamento farmacológico , Adolescente , Clormetiazol/administração & dosagem , Eletroencefalografia/métodos , Humanos , Masculino , Estudos Retrospectivos , Estado Epiléptico/diagnóstico , Estado Epiléptico/fisiopatologia , Resultado do TratamentoRESUMO
An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. We report a child who presented with reflex myoclonus at the age of 9 months and was initially diagnosed with myoclonic epilepsy in infancy. After 9 years of medically resistant myoclonic seizures, extensive investigations, and emerging learning difficulties, she was referred for video-telemetry to characterize her seizures in an attempt to make a syndromic diagnosis. A three-day video-telemetry assessment was performed to document seizures. Neck and deltoid EMG channels were applied from the onset of the recording. Frequent generalized bursts of 3- to 5-Hz spike/polyspike and slow wave discharges, associated with clinical manifestations, mostly myoclonic seizures, were noted. In addition, definite atonic components were noted on the neck EMG as well as the deltoids associated with the slow component of the ictal discharges. The EEG and polygraphy findings are suggestive of a generalized epilepsy characterized by predominantly myoclonic seizures with atonic components. This raises the possibility whether a variant of epilepsy with myoclonic-atonic seizures (Doose syndrome) may be the underlying diagnosis for this girl. A trial of the ketogenic diet would therefore be considered as an option in her future management in view of its beneficial effect in this condition.
RESUMO
INTRODUCTION: There is a lack of population-based data on specific cognitive profiles in childhood epilepsy. This study sought to determine the frequency of impairments in global cognition and aspects of working memory and processing speed in a population-based sample of children with "active" epilepsy (on antiepileptic Drugs (AEDs), and/or had a seizure in the last year). Factors significantly associated with global and specific difficulties in cognition were also identified. METHOD: A total of 85 (74% of eligible population) school-aged children (5-15 years) with "active" epilepsy underwent comprehensive psychological assessment including assessment of global cognition, working memory, and processing speed. Scores on cognitive subtests were compared via paired-samples t tests. The factors associated with cognitive difficulties were analyzed via linear regression. RESULTS: A total of 24% of children were functioning below IQ 50, and 40% had IQ scores below 70. Scores on the Processing Speed Index were significantly lower than scores on the Verbal or Performance indexes on Wechsler instruments. The Coding subtest was a significant weakness compared with the other Wechsler subtests. A total of 58% of children displayed "memory underachievement" (memory score 1 SD below assessed IQ) on at least one of the four administered working memory subtests. Factors significantly associated with globally impaired cognition included being on polytherapy (ß = -13.0; 95% CI [-19.3, -6.6], p = .000) and having attention-deficit/hyperactivity disorder (ADHD; ß = -11.1, 95% CI [-3.0, -19.3], p = .008). Being on polytherapy was also associated with lower scores on the working memory and processing speed composite scores. Having developmental coordination disorder (DCD) was associated with a lower score on the processing speed composite. CONCLUSIONS: There is a high rate of global and specific cognitive difficulties in childhood epilepsy. Difficulties are most pronounced in aspects of working memory and processing speed. Predictors of cognitive impairment in childhood epilepsy include epilepsy-related and behavioral factors, which may differ depending on the domain of cognition assessed.