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PURPOSE: Evaluate the effectiveness and efficiency of two different pain neuroscience education (PNE) lectures provided to physician assistant (PA) students. Primary outcomes explored were knowledge of pain and shift in attitudes and beliefs about chronic pain after the lecture. METHODS: A PNE lecture was provided at two separate university PA programs. One program received a two-hour PNE lecture with a case-based example. The other program received a one-hour PNE lecture without the casebased example. Measurement of change for pre and post-test pain knowledge and attitudes and beliefs about chronic pain were recorded. RESULTS: Students at both universities showed medium effect size improvements in pain knowledge following the lecture. Only students that received the longer two-hour lecture in the case-based example showed significant improvements with their attitudes and beliefs about patients with chronic pain. CONCLUSION: PA students can increase their knowledge about current pain science through lecture alone, however, case-based learning along with lecture, may be more effective in improving the attitudes and beliefs of PA students regarding patients with chronic pain.
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Dolor Crónico/psicología , Conocimientos, Actitudes y Práctica en Salud , Asistentes Médicos/educación , Estudiantes de Medicina/psicología , Humanos , Asistentes Médicos/psicologíaRESUMEN
BACKGROUND: Patients with adhesive capsulitis are commonly seen by physical therapists. Pain and limited shoulder motion from adhesive capsulitis have at times been linked to neural irritation. The purpose of this case is to describe the examination and intervention of a patient with adhesive capsulitis who appeared to have a coexisting, underlying neural irritation. This paper emphasizes how the neurological component must initially be identified and addressed for a successful outcome. CASE DESCRIPTION: A 47-year-old female presented with reduced shoulder motion and function, upper extremity neural irritation, diffuse weakness, altered sensation in the involved extremity, and symptoms reproduced with upper limb neurodynamic testing. Her reduced shoulder range of motion was accompanied by limited glenohumeral glides and a report of local neck stiffness. Symptoms began several months earlier after an apparent electrical shock injury to the arm that caused symptoms and guarding of the shoulder. Intervention initially addressed the underlying neural component with spinal mobilizations while avoiding further irritation. Interventions were progressed to include mobilization and exercise to address shoulder mobility. OUTCOMES: The patient's neurodynamic irritability, distal symptoms, and neck stiffness were normalized within the first weeks of care. Subsequently, interventions were directed at the shoulder. Outcomes over an 12-week time frame included reduced pain from 10/10 to 2/10. Passive range of motion increases included flexion from 121 to 160°, abduction from 71 to 121°, and external rotation from 18 to 60°. Disability scores on Disabilities of the Arm, Shoulder, and Hand (DASH) dropped from initially 68·3 to 18·3% at discharge. She ultimately regained full upper extremity function. DISCUSSION: Therapists should be cognizant of possible neural irritation in shoulder disorders, which may contribute to conditions such as adhesive capsulitis. Identifying neural irritation is critical when determining which interventions will achieve optimal outcomes without aggravating the condition.
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OBJECTIVE: To determine if a neuroplasticity educational explanation for a manual therapy technique will produce a different outcome compared to a traditional mechanical explanation. METHODS: Sixty-two patients with chronic low back pain (CLBP) were recruited for the study. Following consent, demographic data were obtained as well as pain ratings for low back pain (LBP) and leg pain (Numeric Pain Rating Scale), disability (Oswestry Disability Index), fear-avoidance (Fear-Avoidance-Beliefs Questionnaire), forward flexion (fingertips-to-floor), and straight leg raise (SLR) (inclinometer). Patients were then randomly allocated to receive one of two explanations (neuroplasticity or mechanical), a manual therapy technique to their lumbar spine, followed by post-intervention measurements of LBP, leg pain, forward flexion, and SLR. RESULTS: Sixty-two patients (female 35 [56.5%]), with a mean age of 60.1 years and mean duration of 9.26 years of CLBP participated in the study. There were no statistically significant interactions for LBP (p = .325), leg pain (p = .172), and trunk flexion (p = .818) between the groups, but SLR showed a significant difference in favor of the neuroplasticity explanation (p = .041). Additionally, the neuroplasticity group were 7.2 times (95% confidence interval = 1.8-28.6) more likely to improve beyond the MDC on the SLR than participants in the mechanical group. DISCUSSION: The results of this study show that a neuroplasticity explanation, compared to a traditional biomechanical explanation, resulted in a measureable difference in SLR in patients with CLBP when receiving manual therapy. Future studies need to explore if the increase in SLR correlated to changes in cortical maps of the low back.
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Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS(+) ) in multiplex families and accounts for 70-80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS(+) families could be explained by highly penetrant SCN9A mutations.
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Epilepsias Mioclónicas/genética , Mutación/genética , Canal de Sodio Activado por Voltaje NAV1.7/genética , Convulsiones Febriles/genética , Canales de Sodio/genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , LinajeRESUMEN
INTRODUCTION: Current evidence supports the inclusion of directional preference exercises for a subgroup of patients with low back (LBP) and leg pain. Recent pain neuroscience strategies have suggested that cortical restructuring associated with movement activating the body map representation in the brain might account for the observed improvement with the directional preference approach. OBJECTIVES: To explore whether or not a motor imagery directional preference approach would result in any changes in patients with LBP and leg pain. METHODS: A consecutive convenience sample of patients with LBP and leg pain were recruited at two outpatient physical therapy clinics. Measurements of LBP, leg pain, fear-avoidance beliefs (FABQ), pain catastrophizing (PCS), active lumbar flexion, and straight leg raise (SLR) were compared before and immediately after a virtual (motor imagery) directional preference exercise. RESULTS: Statistically significant differences for LBP, FABQ, PCS, active lumbar flexion, and SLR were observed, but only SLR changes met or exceeded the minimally clinically important difference (MCID). CONCLUSIONS: A brief virtual motor imagery extension treatment yielded some immediate positive shifts in patients presenting to physical therapy with LBP and leg pain. Our results indicate that randomized comparison trials are needed to determine the effect of this intervention on the short- and longer-term outcomes in patients with LBP and leg pain.
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Dolor de la Región Lumbar , Humanos , Dolor de la Región Lumbar/rehabilitación , Estudios Prospectivos , Pierna , Encuestas y Cuestionarios , Terapia por Ejercicio/métodosRESUMEN
PURPOSE: Cognitive impairment is observed commonly in children with a history of infantile spasms (IS). The goal of this study was to prospectively examine the effect on cognitive outcome of a neuroprotective agent used as adjunctive therapy during treatment of the spasms. METHODS: In a randomized controlled trial, patients received a standardized therapy plus flunarizine or placebo. The standardized treatment consisted of vigabatrin as first-line therapy. Nonresponders were switched to intramuscular synthetic adrenocorticotropic hormone (sACTH depot) after 2 weeks and, if necessary, to topiramate after two additional weeks. The Vineland Adaptive Behavior Scale (VABS) and Bayley Scales of Infant Development (BSID) were used as outcome measures 24 months after the intervention. KEY FINDINGS: Sixty-eight of 101 children diagnosed over 3 years in seven centers in Canada received either adjunctive flunarizine or placebo. Sixty-five of the 68 children (96%) became spasm-free within 8 weeks and no late relapse occurred. Bayley and Vineland results were available at baseline and at 24 months in 45 children. There was no significant difference in the BSID developmental quotient between the flunarizine- and placebo-treated children at baseline (44.3 ± 35.5 vs. 30.9 ± 29.8; p = 0.18) or 24 months later (56.9 ± 33.3 vs. 46 ± 34.2; p = 0.29). However, the 10 flunarizine-treated children with no identified etiology had a better outcome than the eight controls at 24 months on both the Vineland Scale (84.1 ± 11.3 vs. 72.3 ± 9.8; p = 0.03) and the Bayley Scale (87.6 ± 14.7 vs. 69.9 ± 25.3; p = 0.07). SIGNIFICANCE: Our study failed to demonstrate a protective effect of flunarizine on cognitive outcome in a cohort of children with IS. An analysis of subgroups suggested that flunarizine may further improve cognitive outcome in children with no identified etiology.
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Anticonvulsivantes/administración & dosificación , Trastornos del Conocimiento/tratamiento farmacológico , Trastornos del Conocimiento/epidemiología , Flunarizina/administración & dosificación , Espasmos Infantiles/tratamiento farmacológico , Espasmos Infantiles/epidemiología , Trastornos del Conocimiento/psicología , Método Doble Ciego , Quimioterapia Combinada , Femenino , Humanos , Lactante , Masculino , Espasmos Infantiles/psicología , Resultado del TratamientoRESUMEN
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Type of mutation was related to the severity of mental retardation and the presence of complex movement disorders. Cerebrospinal fluid : blood glucose ratio was related to type of mutation and phenotype. In conclusion, a substantial number of the patients with glucose transporter-1 deficiency syndrome do not have epilepsy. Our study demonstrates that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
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Errores Innatos del Metabolismo de los Carbohidratos , Transportador de Glucosa de Tipo 1/deficiencia , Transportador de Glucosa de Tipo 1/genética , Adolescente , Adulto , Edad de Inicio , Errores Innatos del Metabolismo de los Carbohidratos/diagnóstico , Errores Innatos del Metabolismo de los Carbohidratos/genética , Errores Innatos del Metabolismo de los Carbohidratos/terapia , Niño , Preescolar , Dieta Cetogénica , Discinesias/diagnóstico , Discinesias/genética , Discinesias/terapia , Epilepsia/diagnóstico , Epilepsia/genética , Epilepsia/terapia , Femenino , Humanos , Lactante , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Discapacidad Intelectual/terapia , Masculino , Mutación , Fenotipo , Estudios Retrospectivos , Síndrome , Adulto JovenRESUMEN
The introduction of highly active antiretroviral therapy (HAART) has drastically changed the scope and spectrum of diseases associated with HIV, shifting from AIDS-related to non-AIDS-related diseases. Studies linking HIV/AIDS databases to cancer registries have shown a dramatic decrease in AIDS-related malignancies and a steady increase in non-AIDS-defining malignancies (NADM). We review the causes underlying the rise in incidence of NADM and the clinical presentation, pathology, and treatment outcomes of the four most commonly encountered NADM in the HAART era. Meta-analysis of published studies show an increase in NADM over the general population, mostly among infection-related cancers such as anal cancer, Hodgkin lymphoma, and liver cancer. Among the non-infection-related cancers, lung and skin cancers predominate. The overall effect of HAART on NADM is unsettled. As HIV-infected individuals survive longer, better screening strategies are needed to detect cancer earlier, and prospective data are needed to assess the impact of HAART on cancer outcomes.
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The formation of deoxyhemoglobin S (deoxy-Hb S) polymers is the key triggering event for the complex pathophysiologic manifestations of sickle cell anemia (SCA). This polymer formation is associated with a marked right-shifted oxyhemoglobin dissociation curve (decreased affinity, increased P50), which results in a decrease in arterial oxygen saturation (SaO2. There is a delay period ("delay time") from the formation of deoxy-Hb S to polymerization that is markedly sensitive (to the power of 30-40) to the concentration and solubility changes of deoxy-Hb S. Deoxy-Hb S polymer formation leads to sickle cell vaso-occlusion, a unique characteristic of SCA. This theoretical study, which views SCA as a disease of oxygen transport, provides a novel framework to suggest that a small to modest increase in cardiac index (by decreasing the P50 and thus increasing the SaO2) could change the distribution of the delay times (sec) such that the balance between occlusion and opening of microcirculatory vessels is shifted favoring the opening of these vessels, therefore disfavoring vaso-occlusion. Our approach integrates a mathematical model of oxygen transport in SCA with: (1) the expression relating the solubility of deoxy-Hb S to SaO2, and (2) the kinetic expression relating the delay time to the solubility of deoxy-Hb S.
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Anemia de Células Falciformes/prevención & control , Anemia de Células Falciformes/fisiopatología , Corazón/fisiopatología , Hemodinámica/fisiología , Hemoglobina Falciforme/metabolismo , Oxígeno/metabolismo , Enfermedad Aguda , Adolescente , Adulto , Transporte Biológico , Niño , Femenino , Humanos , Masculino , Modelos EstadísticosRESUMEN
We present a case of acute appendicitis within an incarcerated femoral hernia. This is a rare complication of the phenomenon eponymously known as a 'De Garengeot Hernia', which describes a vermiform appendix in an incarcerated femoral hernia sac. Our case is somewhat unique in the manner by which the affected patient had presented. Attending hospital for an unrelated elective surgery, an incarcerated hernia was diagnosed at time of admission. Thorough assessment in advance of the procedure and decisive action led to a satisfactory outcome. This may be the first case in literature reporting a 'De Garengeot Hernia' presenting in such a fashion.
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A microtiter alamarBlue assay was adapted and optimized for Mycobacterium avium subsp. paratuberculosis. Using cell concentrations ranging from 10(4) to 10(8) CFU/ml, a minimum incubation time to indicate viability was obtained after 24 h. Rifampin (rifampicin) was used to demonstrate that this method has applications for high-throughput screening against M. avium subsp. paratuberculosis.
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Técnicas Bacteriológicas , Viabilidad Microbiana , Mycobacterium avium/aislamiento & purificación , Animales , Bovinos , Enfermedades de los Bovinos/microbiología , Pruebas de Sensibilidad Microbiana , Mycobacterium avium/citología , Paratuberculosis/microbiologíaRESUMEN
Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the KCNA1 voltage-gated potassium channel gene. In the present study, we describe a family with novel clinical features including persistent cerebellar dysfunction, cerebellar atrophy, and cognitive delay. All affected family members have myokymia and epilepsy, but only one individual has episodes of vertigo. Additional features include postural abnormalities, episodic stiffness and weakness. A novel KCNA1 mutation (c.1222G>T) which replaces a highly conserved valine with leucine at position 408 (p.Val408Leu) was identified in affected family members, and was found to augment the ability of the channel to inactivate. Together, our data suggests that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay.
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Enfermedades Cerebelosas/genética , Predisposición Genética a la Enfermedad , Canal de Potasio Kv.1.1/genética , Mutación/genética , Adulto , Animales , Células CHO , Enfermedades Cerebelosas/patología , Enfermedades Cerebelosas/fisiopatología , Preescolar , Cricetinae , Cricetulus , Análisis Mutacional de ADN/métodos , Femenino , Humanos , Leucina/genética , Imagen por Resonancia Magnética/métodos , Masculino , Potenciales de la Membrana/genética , Transfección/métodos , Valina/genéticaRESUMEN
PURPOSE: Factors influencing the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the EEG features of absence seizures. METHODS: Children with untreated absence seizures were studied using video-EEG recording. The influence of state of arousal, provocation (hyperventilation, photic stimulation), age, and epilepsy syndrome on specific EEG features was analyzed. RESULTS: Five hundred nine seizures were evaluated in 70 children with the following syndromes: childhood absence epilepsy (CAE) 37, CAE+ photoparoxysmal response (PPR) 10, juvenile absence epilepsy (JAE) 8, juvenile myoclonic epilepsy (JME) 6, and unclassified 9. Polyspikes occurred in all syndromes but were more common in JME. They were brought out by drowsiness and sleep in fragments of generalized spike and wave (GSW). Polyspikes were more likely to occur during photic stimulation, but were not influenced by age independently. GSW was more likely to be disorganized in JME than JAE, and in JAE than CAE. Increasing age and levels of arousal were more likely to result in organized GSW. Factors specific to each child independently influenced EEG features; the nature of these factors has not been identified. DISCUSSION: The EEG features of absence seizures are influenced by a complex interaction of age, epilepsy syndrome, level of arousal, provoking factors, and other intrinsic factors. Epilepsy syndrome alone cannot predict specific features of GSW; however, JME is more frequently associated with polyspikes and disorganization of the paroxysm.
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Electroencefalografía , Epilepsia Tipo Ausencia/etiología , Epilepsia Tipo Ausencia/patología , Epilepsia Generalizada/complicaciones , Adolescente , Factores de Edad , Encéfalo/patología , Encéfalo/fisiopatología , Niño , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Estimulación Luminosa/métodos , Estudios Retrospectivos , Sueño/fisiología , Fases del Sueño/fisiologíaRESUMEN
A simplified approach to mathematical modeling/problem solving in global oxygen transport is presented. In addition to standard oxygen transport formulae, it uses the S-Factor and a mathematical relationship relating SvO(2) to the ratio DO(2)/VO(2). This method allows the determination or specification of SvO(2), PvO(2), P(50), and systemic shunting in the context of this simplified approach. Heretofore this has not been possible. With this approach, essentially all clinical problems in global oxygen transport can be dealt with. This is illustrated by the broad scope of the five problems presented.
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Modelos Teóricos , Oxígeno/metabolismo , Transporte Biológico , Dióxido de Carbono/metabolismo , Humanos , Modelos Biológicos , Consumo de OxígenoRESUMEN
Although the epileptic encephalopathies have a profound impact on neurological development, there has been limited progress made in the successful treatment of these disorders. This article suggests that the limited understanding of the pathophysiology of the encephalopathies, the lack of a good animal model of these disorders, the failure to understand the impact of etiology on response to treatment, and the absence of a reliable method for measurement of cognitive change in response to treatment are factors that contribute to the limited progress.
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Corteza Cerebral/fisiopatología , Epilepsia/patología , Epilepsia/fisiopatología , Animales , Encéfalo , Trastornos del Conocimiento/etiología , Modelos Animales de Enfermedad , Epilepsia/terapia , HumanosRESUMEN
BACKGROUND: Most estimates of the prevalence of seizure disorders in Canada derive from national surveys which differ in sampling and case-finding methods. This study used health care utilization data to make a population-based estimate of the prevalence of epileptic seizures and of epilepsy in children in British Columbia (BC). METHODS: All BC residents between 0-19 years-of-age in 2002-3 enrolled in the Medical Services Plan were included. Epileptic seizures were defined using ICD-9 codes; health care utilization data was obtained from BC Linked Health Database. The period prevalence of epileptic seizures and of epilepsy was determined by age, urban/rural region and socioeconomic status. RESULTS: 8,125 of 1,013,816 children were identified as having an epileptic seizure of which 5621 were classified as epilepsy--5.5 per 1000 children (95% CI: 5.4-5.7). The prevalence of epilepsy in infants and preschoolers was higher than that reported in the literature. A higher prevalence of epilepsy was observed also among those with low socioeconomic status. A higher prevalence of epilepsy was observed in those health regions with a higher proportion of First Nations and a lower prevalence was observed in health regions with a higher proportion of visible minorities. CONCLUSIONS: Age-specific prevalence rates in BC children for epilepsy, determined from population-based administrative records, were similar to published data except in children under five years. We found a gradient of increased prevalence with decreased level of income. Prevalence rates based on utilization data have the potential to guide program planning for children with epileptic seizures.
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Bases de Datos Factuales/estadística & datos numéricos , Epilepsia/epidemiología , Adolescente , Distribución por Edad , Colombia Británica/epidemiología , Preescolar , Planificación en Salud Comunitaria , Estudios Transversales , Femenino , Humanos , Lactante , Recién Nacido , Clasificación Internacional de Enfermedades , Masculino , Prevalencia , Estudios Retrospectivos , Factores Socioeconómicos , Adulto JovenRESUMEN
Study Design: A prospective, single-arm, pre-postintervention study.Objective: To determine the preliminary usefulness of providing pain neuroscience education (PNE) on improving pain and movement in patients presenting with non-chronic mechanical low back pain (LBP).Background: PNE has been shown to be an effective intervention for the treatment of chronic LBP but its usefulness in patients with non-chronic LBP has not been examined.Methods: A single group cohort pilot study was conducted. Eighty consecutive patients with LBP < 3 months completed a demographics questionnaire, leg and LBP rating (Numeric Pain Rating Scale - NPRS), disability (Oswestry Disability Index), fear-avoidance (Fear-Avoidance Beliefs Questionnaire), pain catastrophizing (Pain Catastrophizing Scale), central sensitization (Central Sensitization Inventory), pain knowledge (Revised Neurophysiology of Pain Questionnaire), risk assessment (Keele STarT Back Screening Tool), active trunk flexion and straight leg raise (SLR). Patients received a 15-minute verbal, one-on-one PNE session, followed by repeat measurement of LBP and leg pain (NPRS), trunk flexion and SLR.Results: Immediately after intervention, LBP and leg pain improved significantly (p < 0.001), but the mean change did not exceed minimal clinically important difference (MCID) of 2.0. Active trunk flexion significantly improved (p < 0.001), with the mean improvement (4.7 cm) exceeding minimal detectible change (MDC). SLR improved significantly (p = 0.002), but mean change did not exceed MDC.Conclusions: PNE may be an interesting option in the treatment of patients with non-chronic mechanical LBP. The present pilot study provides the rationale for studying larger groups of patients in controlled studies over longer periods of time.
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Dolor de la Región Lumbar/terapia , Neurociencias/educación , Educación del Paciente como Asunto , Enfermedad Aguda , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Proyectos Piloto , Rango del Movimiento Articular , Muestreo , Torso , Adulto JovenRESUMEN
PURPOSE: The clinical features of absence seizures in idiopathic generalized epilepsy have been held to be syndrome-specific. This hypothesis is central to many aspects of epilepsy research yet has not been critically assessed. We examined whether specific factors such as epilepsy syndrome, age, and state determine the features of absence seizures. METHODS: Children with newly presenting absence seizures were studied using video electroencephalography (EEG) recording. We analyzed whether a child's epilepsy syndrome, age, state of arousal, and provocation influenced specific clinical features of their absence seizures: duration, eyelid movements, eye opening, and level of awareness during the seizure. RESULTS: Seizures (509) were evaluated in 70 children with the following syndromes: Childhood absence epilepsy (CAE), 37; CAE plus photoparoxysmal response (PPR), 10; juvenile absence epilepsy (JAE), 8; juvenile myoclonic epilepsy (JME), 6; unclassified, 9. Seizure duration was associated with epilepsy syndrome as children with JME had shorter seizures than in other syndromes, independent of age. Age independently influences level of awareness and eye opening. Arousal or provocation affected all features except level of awareness. Specific factors unique to the child independently influenced all features; the nature of these factors has not been identified. DISCUSSION: The view that the clinical features of absence seizures have syndrome-specific patterns is not supported by critical analysis. We show that confounding variables profoundly affect clinical features and that syndromes also show marked variation. Variation in clinical features of absence seizures results from a complex interaction of many factors that are likely to be genetically and environmentally determined.
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Epilepsia Tipo Ausencia/diagnóstico , Epilepsia Tipo Ausencia/fisiopatología , Adolescente , Edad de Inicio , Concienciación/fisiología , Niño , Preescolar , Electroencefalografía , Movimientos Oculares/fisiología , Párpados/fisiopatología , Femenino , Humanos , Lactante , Masculino , Recuerdo Mental/fisiología , Factores de TiempoRESUMEN
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders.
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Epilepsia/genética , Proteínas del Tejido Nervioso/genética , Enfermedades Neurodegenerativas/genética , Canales de Sodio/genética , Adolescente , Adulto , Edad de Inicio , Secuencia de Bases/genética , Niño , Preescolar , Análisis Mutacional de ADN/métodos , Epilepsias Mioclónicas/genética , Epilepsias Parciales/genética , Epilepsia Generalizada/genética , Humanos , Modelos Genéticos , Mutación/genética , Mutación Missense/genética , Canal de Sodio Activado por Voltaje NAV1.1 , Padres , FenotipoRESUMEN
BACKGROUND: The full spectrum of clinical manifestations and outcome, and the potential importance of regional or demographic features or viral triggers in paediatric multiple sclerosis (MS), has yet to be fully characterised. Our aim was to determine some of these characteristics in children with MS. METHODS: 137 children with MS and 96 control participants matched by age and geographical region were recruited in a multinational study. They underwent structured clinical-demographic interviews, review of academic performance, physical examination, disability assessment (MS patients only), and standardised assays for IgG antibodies directed against Epstein-Barr virus, cytomegalovirus, parvovirus B19, varicella zoster virus, and herpes simplex virus. FINDINGS: MS was relapsing-remitting at diagnosis in 136 (99%) children. The first MS attack resembled acute disseminated encephalomyelitis (ADEM) in 22 (16%) of the children, most under 10 years old (mean age 7.4 [SD 4.2] years). Children with ADEM-like presentations were significantly younger than were children with polyfocal (11.2 [4.5] years; p<0.0001) or monofocal (12.0 [3.8] years; p=0.0005) presentations. Permanent physical disability (EDSS>or=4.0) developed within 5 years in 15 (13%) of the 120 children for whom EDSS score was available. 23 (17%) had impaired academic performance, which was associated with increasing disease duration (p=0.02). Over 108 (86%) of the children with MS, irrespective of geographical residence, were seropositive for remote EBV infection, compared with only 61 (64%) of matched controls (p=0.025, adjusted for multiple comparisons). Children with MS did not differ from controls in seroprevalence of the other childhood viruses studied, nor with respect to month of birth, sibling number, sibling rank, or exposure to young siblings. INTERPRETATION: Paediatric MS is a relapsing-remitting disease, with presenting features that vary by age at onset. MS in children might be associated with exposure to EBV, suggesting a possible role for EBV in MS pathobiology.