RESUMO
OBJECTIVE: To determine the prevalence of and identify factors associated with gastrointestinal (GI) symptoms among children with channelopathy-associated developmental and epileptic encephalopathy (DEE). STUDY DESIGN: Parents of 168 children with DEEs linked to SCN1A (n = 59), KCNB1 (n = 31), or KCNQ2 (n = 78) completed online CLIRINX surveys about their children's GI symptoms. Our analysis examined the prevalence, frequency, and severity of GI symptoms, as well as DEE type, functional mobility, feeding difficulties, ketogenic diet, antiseizure medication, autism spectrum disorder (ASD), and seizures. Statistical analyses included the χ2 test, Wilcoxon rank-sum analysis, and multiple logistic regression. RESULTS: GI symptoms were reported in 92 of 168 patients (55%), among whom 63 of 86 (73%) reported daily or weekly symptoms, 29 of 92 (32%) had frequent or serious discomfort, and 13 of 91 (14%) had frequent or serious appetite disturbances as a result. The prevalence of GI symptoms varied across DEE cohorts with 44% of SCN1A-DEE patients, 35% of KCNB1-DEE patients, and 71% of KCNQ2-DEE patients reporting GI symptoms in the previous month. After adjustment for DEE type, current use of ketogenic diet (6% reported), and gastrostomy tube (13% reported) were both associated with GI symptoms in a statistically, but not clinically, significant manner (P < .05). Patient age, functional mobility, feeding difficulties, ASD, and seizures were not clearly associated with GI symptoms. Overall, no individual antiseizure medication was significantly associated with GI symptoms across all DEE cohorts. CONCLUSIONS: GI symptoms are common and frequently severe in patients with DEE.
Assuntos
Encefalopatias/complicações , Canalopatias/complicações , Epilepsia/complicações , Gastroenteropatias/etiologia , Adolescente , Encefalopatias/genética , Encefalopatias/terapia , Canalopatias/genética , Canalopatias/terapia , Criança , Pré-Escolar , Epilepsia/genética , Epilepsia/terapia , Feminino , Gastroenteropatias/diagnóstico , Gastroenteropatias/epidemiologia , Marcadores Genéticos , Inquéritos Epidemiológicos , Humanos , Lactente , Canal de Potássio KCNQ2/genética , Modelos Logísticos , Masculino , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Prevalência , Fatores de Risco , Índice de Gravidade de Doença , Canais de Potássio Shab/genéticaRESUMO
OBJECTIVE: To test whether the reported association between pediatric epilepsy and behavioral problems may be distorted by the use of parental proxy report instruments. STUDY DESIGN: Children in the Connecticut Study of Epilepsy were assessed 8-9 years after their epilepsy diagnosis (time-1) with the parent-proxy Child Behavior Check List (CBCL) (ages 6-18 years) or the Young Adult Self-Report (≥18 years of age). For children <18 years of age, parents also completed the Child Health Questionnaire, which contains scales for impact of child's illness on the parents. The same study subjects completed the Adult Self-Report 6-8 years later (time-2). Sibling controls were also tested. Case-control differences were examined for evidence suggesting more behavioral problems in cases with epilepsy than in controls based on proxy- vs self-report measures. RESULTS: At time-1, parent-proxy CBCL scores were significantly higher (worse) for cases than controls (n = 140 matched pairs). After adjustment for Child Health Questionnaire scales reflecting parent emotional and time impact, only 1 case-control difference on the CBCL remained significant. Self-reported Young Adult Self-Report scores did not differ between cases and controls (n = 42 pairs). At time-2, there were no significant self-reported case-control differences on the Adult Self-Report (n = 105 pairs). CONCLUSIONS: Parent-proxy behavior measures appear to be influenced by the emotional impact of epilepsy on parents. This may contribute to apparent associations between behavioral problems and childhood epilepsy. Self-report measures in older adolescents (>18 years of age) and young adults do not confirm parental perceptions. Evidence suggesting more behavioral problems in children with epilepsy should be interpreted in light of the source of information.
Assuntos
Atitude Frente a Saúde , Epilepsia/complicações , Epilepsia/psicologia , Pais , Comportamento Problema , Autorrelato , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Procurador , Adulto JovemRESUMO
OBJECTIVE: This systematized literature review identified reports describing epilepsy misconceptions in the developed Western countries and research interventions focused on reducing these misconceptions. MATERIALS AND METHODS: English language publications from January 2004 to January 2015 that described original research conducted in Europe, North/Central/South America, or Australia on misconceptions about epilepsy among the general public were used for this review. RESULTS: Eighty-one publications were selected. Most studies were conducted in the Americas (N=30) and Europe (N=31). Misconceptions and attitudes about epilepsy were assessed among clinical providers (N=9), family members of people with epilepsy (PWE) (N=5), teachers (N=11), students (N=22), and the general public (N=25). Most studies used structured questionnaires, sometimes adding open-ended questions. Misconceptions reflected socially exclusionary attitudes directed at PWE, ignorance about treatment, and overgeneralizations that are stigmatizing when applied to all PWE. Misconceptions were more prevalent in those with less education, lower socioeconomic status, and no exposure to PWE. There were only 12 intervention studies. While intervention studies were generally effective in improving attitudes, many were targeted to healthcare and education settings, were time-intensive, and impractical for broad general population implementation. None incorporated newer technology-based strategies regarding effective health communication approaches. CONCLUSIONS: Types of epilepsy misconceptions were similar in reports published over the last decade, although most referred to misconceptions that have already been previously described. Existing questionnaires may fail to identify more subtle forms of current misconceptions and negative attitudes. Few interventional studies specifically target epilepsy stigma. Practical and broad scalable approaches to destigmatize epilepsy may help reduce misconceptions.
Assuntos
Epilepsia/epidemiologia , Epilepsia/psicologia , Estigma Social , Estereotipagem , Austrália/epidemiologia , América Central/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , América do Norte/epidemiologia , Grupos Populacionais , Distância Psicológica , América do Sul/epidemiologia , Estudantes , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarrhythmia. Secondarily, it assesses whether response to treatment differs by etiology or developmental status. METHODS: The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of infantile spasms. Children were considered responders if there was clinical remission and resolution of hypsarrhythmia that was sustained at 3 months after first treatment initiation. Standard treatments of adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin were considered individually, and all other nonstandard therapies were analyzed collectively. Developmental status and etiology were assessed. We compared response rates by treatment group using chi-square tests and multivariate logistic regression models. RESULTS: Two hundred thirty infants were enrolled from 22 centers. Overall, 46% of children receiving standard therapy responded, compared to only 9% who responded to nonstandard therapy (p < 0.001). Fifty-five percent of infants receiving ACTH as initial treatment responded, compared to 39% for oral corticosteroids, 36% for vigabatrin, and 9% for other (p < 0.001). Neither etiology nor development significantly modified the response pattern by treatment group. INTERPRETATION: Response rate varies by treatment choice. Standard therapies should be considered as initial treatment for infantile spasms, including those with impaired development or known structural or genetic/metabolic etiology. ACTH appeared to be more effective than other standard therapies.
Assuntos
Corticosteroides/administração & dosagem , Hormônio Adrenocorticotrópico/uso terapêutico , Anticonvulsivantes/administração & dosagem , Espasmos Infantis/tratamento farmacológico , Espasmos Infantis/epidemiologia , Vigabatrina/uso terapêutico , Administração Oral , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Prevalência , Estudos Prospectivos , Fatores de Risco , Espasmos Infantis/diagnóstico , Estados Unidos/epidemiologiaRESUMO
OBJECTIVE: To compare the occurrence of injuries in adolescents with childhood-onset epilepsy and matched sibling controls. STUDY DESIGN: Retrospective case-control lifetime injury assessments were obtained from a community-based cohort of adolescents with childhood-onset epilepsy diagnosed 9 years earlier and their siblings. The children with epilepsy (n = 501; mean age, 15.3 years) included those with complicated (abnormal neurologic examination or IQ <80; n = 133) and uncomplicated (normal neurologic examination and IQ ≥80; n = 368) epilepsy. Children with uncomplicated epilepsy were matched to sibling controls (n = 210 pairs). The children reported whether or not they had ever (before and after epilepsy diagnosis) experienced injuries "serious enough to require medical attention" and if so, the type of treatment required. RESULTS: Almost one-half (49.1%) of the children with epilepsy experienced injury, of whom 8.9% required surgery/hospitalization and 17.1% had injury related to a seizure. Fewer children with uncomplicated epilepsy had seizure-related injuries versus those with complicated epilepsy (13.6% vs 27.4%; P ≤ .01). The proportion of children with epilepsy with any injury by type (not mutually exclusive) were: 25.2% with fractures (n = 126); 24.4% with head injuries (n = 122); 10.2% with other injuries (n = 51); 8.4% with dental injuries (n = 42); and 8% with burns/scalds (n = 40). A similar proportion of children with uncomplicated epilepsy experienced any injury (overall and by type) compared to matched sibling controls, with the exception that more children with uncomplicated epilepsy had head injuries (30.0% vs 19.5%; P < .02). CONCLUSION: With the exception of head injuries, we found no evidence of an increased risk of injury in a representative cohort of children with epilepsy compared with matched sibling controls. This finding may reflect the fact that the sample was not biased to more severe cases, or that safety precautions to prevent injury were widely used.