How the characteristics of pediatric neurologists in Latin America influence the communication of sudden unexpected death in epilepsy to patients and caregivers.

OBJECTIVE: This study aimed to describe the characteristics of pediatric neurologists (PNs) in Latin America (LA) who attend to children and adolescents with epilepsy and convey to them the risk of sudden unexpected death in epilepsy (SUDEP). METHODS: Personal data and details of discussion of SUDEP with families, including relevance of SUDEP disclosure, frequency of such communication, perceived benefits and risks of disclosure, extent of training received on such disclosure, and professional experience with SUDEP, were collected through an online survey of PNs from LA. Their personal experience in carrying out this conversation was obtained through responses to an open question, further used to identify the main barriers. RESULTS: Of the 442 surveys received, 367 (83%) were analyzed. Most participants (73.8%) responded that the communication of SUDEP risk was relevant or very relevant; however, only 17.9% reported communicating it always or very frequently. Factors that increased the frequency of SUDEP communication included patients with higher levels of complexity (OR = 2.18, P = .003) and the physician's personal experience with SUDEP (OR = 2.305, P < .001). Direct questions from the family and avoiding scaring them about a rare outcome were the main motivations behind discussing and not discussing SUDEP, respectively. In the open question, respondents identified worries about the patient's ability to understand the information and cultural gaps as barriers. "Informing with the intention of improving adherence to treatment" and "establishing an empathic relationship" were significantly related. Further, the concept of "do not scare" was significantly related to "personal difficulties in discussing SUDEP." SIGNIFICANCE: Although most PNs agree that communication about SUDEP is relevant, only a minority actually engages in it. Participants identified a lack of appropriate training in such communication as a barrier. A better understanding of communication expectations, education of health professionals, and communication techniques have a strong relevance in diminishing the gap between guidelines and practice.

Morphometric analysis program: Detection of epileptic foci in young children using an adult normative database: Initial experience.

Objective: To report our initial experience using an adult-template MAP in drug-resistant focal epilepsy in five children with apparently normal MRI. Methods: Patients selected were highly suspicious of harboring focal structural lesions and had negative brain MRI studies. MAP was performed using a locally obtained adult database as a template. Results were reviewed by two neuroradiologists. Pertinence of MAP-positive areas was confirmed by the focal epileptic hypothesis or by pathology when possible (J Neuroradiol, 39, 2012, 87). Visual analysis was performed using Mango Software. MRI studies were reanalyzed at the workstation with knowledge of the clinical suspicion to confirm or discard the possibility of FCD. Results: Five patients aged 19-48 months were studied, all with initial 3T MRI studies interpreted as normal. All had focal epileptic hypothesis with coherence of clinical seizure characterization and electroencephalographic findings. In two patients, histology showed type 1 FCD. Due to the age of our subjects, the junction map always highlighted the subcortical white matter in relationship to maturity differences. FCD was identified as asymmetric U-shaped highlighted regions in the junction map. Significance: FCD is the most frequent pathology reported in pediatric epilepsy surgery series (Epileptic Disord, 18, 2016, 240). Significant number of FCDs may be overlooked on MRIs, reducing the odds of seizure freedom after surgery (Epilepsy Res, 89, 2010, 310). MAP is an image postprocessing method for enhanced visualization of FCD; however, when using an adult template in developing brains, normal subcortical regions may be highlighted as pathological. Creating a pediatric template is difficult, due to the need for general anesthesia to acquire the MRI database. Here, we were able to show that MAP identified FCDs as asymmetric "U-" shaped highlighted regions in the junction maps of all five patients, which may indicate that obtaining childhood databases for this purpose may not be necessary and that adult ones suffice for diagnosis of FCD.

Behavioral alterations associated with levetiracetam in pediatric epilepsy.

Levetiracetam (LEV) has an improved pharmacological profile and is one of the most commonly used antiepileptic drugs (AEDs). However, associations between this pharmacological profile and behavioral side effects have been extensively reported in pediatric populations. We assessed behavioral changes after initiation of LEV, prescribed by the treating neurologist, in Chilean patients with epilepsy aged 4-15 years. A behavioral questionnaire was applied at baseline and at two, four, and twelve weeks of treatment. Thirty patients were enrolled: 16 males, 14 females, average age 8 years (range: 4-14). By week four, 23.3% of patients showed significant behavioral alterations that persisted throughout the observation period. No significant alterations emerged after four weeks in the remaining patients. Family history of psychiatric disease and prior behavioral difficulties were predisposing factors for adverse behavioral effects. Although previous studies associated adverse behavioral effects with LEV in pediatric patients with epilepsy, we believe that this is the first study to use a prospective methodology and standardized tools to quantify the symptomatology. Adverse behavioral effects may significantly affect quality of life for patients and families, diminishing the tolerability of treatment. To ensure successful therapy and improve medical decision-making, it is essential to consider predisposing factors for drug-related adverse effects and to regularly assess for behavioral alterations during treatment.

Relación entre tiempo de pesquisa de alteraciones del neurodesarrollo por parte de cuidadores y diagnóstico de TEA de alto funcionamiento / Relationship between time of detection of neurodevelopmental alterations by caregivers and diagnosis of high functioning ASD

INTRODUCCIÓN: La intervención precoz en el trastorno del espectro autista (TEA) ha demostrado ser fundamental para un mejor pronóstico a largo plazo. Se han descrito importantes latencias entre la pesquisa de sintomatología y el diagnóstico, retardando el inicio de terapia. OBJETIVO: Correlacionar el tiempo entre la pesquisa de alteración del neurodesarrollo por parte de los cuidadores y el diagnóstico de TEA. METODOLOGÍA: Estudio observacional retrospectivo de pacientes diagnosticados con TEA en el Centro de Terapia del Comportamiento. RESULTADOS: 28 pacientes (24 hombres) con diagnóstico de TEA. Mediana de edad de inicio de síntomas de 24 meses y de diagnóstico de 62,5 meses. No existe una correlación entre la edad de pesquisa de síntomas y del diagnóstico (r2=0,1). CONCLUSIONES: No hubo relación entre edad de pesquisa de síntomas por los cuidadores y diagnóstico de TEA. Este estudio refleja la necesidad de ampliar el conocimiento poblacional sobre sintomatología temprana de TEA, siendo una herramienta de salud pública para lograr el manejo precoz y mejorar el pronóstico de estos sujetos.

INTRODUCTION: Early intervention in autism spectrum disorder (ASD) has shown to be essential for better long-term prognosis. Significant delays have been described between symptom assessment and diagnosis, deferring therapy initiation. OBJECTIVE: To relate the moment of symptom detection by caregivers and the medical diagnosis of ASD. METHODOLOGY: Observational retrospective study, including patients diagnosed with ASD at a private behavioral therapy center. Results: 28 patients (24 male) with diagnosis of ASD. Median age of symptom assessment was at 24 months and of diagnosis at 62.5 months. There is no relation between the age of symptoms assessment and diagnosis (r2 = 0.1). CONCLUSIONS: There was no relationship between the age at which symptoms were detected by caregivers and medical diagnosis of ASD. This study reflects the need to increase the awareness about early symptoms of ASD, being a public health tool to achieve early management and improve the prognosis of these subjects.

Phenotypic variability of GLUT1 deficiency: When is necessary to suspect? / Variabilidad fenotípica del déficit de GLUT1: ¿Cuándo es necesario sospechar?

INTRODUCTION: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. OBJECTIVE: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. CLINICAL CASE: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.

Variabilidad fenotípica del déficit de GLUT1: ¿Cuándo es necesario sospechar? / Phenotypic variability of GLUT1 deficiency: when is necessary to suspect?

Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados.

Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.

Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial.

INTRODUCTION: Tuberous sclerosis complex is a rare genetic disorder leading to the growth of hamartomas in multiple organs, including cardiac rhabdomyomas. Children with symptomatic cardiac rhabdomyoma require frequent admissions to intensive care units, have major complications, namely, arrhythmias, cardiac outflow tract obstruction and heart failure, affecting the quality of life and taking on high healthcare cost. Currently, there is no standard pharmacological treatment for this condition, and the management includes a conservative approach and supportive care. Everolimus has shown positive effects on subependymal giant cell astrocytomas, renal angiomyolipoma and refractory seizures associated with tuberous sclerosis complex. However, evidence supporting efficacy in symptomatic cardiac rhabdomyoma is limited to case reports. The ORACLE trial is the first randomised clinical trial assessing the efficacy of everolimus as a specific therapy for symptomatic cardiac rhabdomyoma. METHODS: ORACLE is a phase II, prospective, randomised, placebo-controlled, double-blind, multicentre protocol trial. A total of 40 children with symptomatic cardiac rhabdomyoma secondary to tuberous sclerosis complex will be randomised to receive oral everolimus or placebo for 3 months. The primary outcome is 50% or more reduction in the tumour size related to baseline. As secondary outcomes we include the presence of arrhythmias, pericardial effusion, intracardiac obstruction, adverse events, progression of tumour reduction and effect on heart failure. CONCLUSIONS: ORACLE protocol addresses a relevant unmet need in children with tuberous sclerosis complex and cardiac rhabdomyoma. The results of the trial will potentially support the first evidence-based therapy for this condition.

[Treatment of a severe Clostridium difficile infection with colonic lavages. Report of one case]. / Ileostomía en asa derivativa y lavado colónico intraoperatorio como alternativa de tratamiento en un caso de colitis grave por Clostridium difficile.

A loop ileostomy with intraoperative anterograde colonic lavage has been described as an alternative to colectomy in the management of cases of Clostridium difficile infection refractory to medical treatment. We report a 69 years old diabetic women admitted with a septic shock. An abdominal CAT scan showed a pan-colitis that seemed to be infectious. A polymerase chain reaction was positive for Clostridium Difficile. Due to the failure to improve after full medical treatment, a derivative loop ileostomy and intra-operatory colonic lavage were performed, leaving a Foley catheter in the proximal colon. In the postoperative period, anterograde colonic instillations of Vancomycin flushes through the catheter were performed every 6 hours. Forty eight hours after surgery, the patient improved. A colonoscopy prior to discharge showed resolution of the pseudomembranous colitis.

Ileostomía en asa derivativa y lavado colónico intraoperatorio como alternativa de tratamiento en un caso de colitis grave por Clostridium difficile / Treatment of a severe Clostridium difficile infection with colonic lavages. Report of one case

A loop ileostomy with intraoperative anterograde colonic lavage has been described as an alternative to colectomy in the management of cases of Clostridium difficile infection refractory to medical treatment. We report a 69 years old diabetic women admitted with a septic shock. An abdominal CAT scan showed a pan-colitis that seemed to be infectious. A polymerase chain reaction was positive for Clostridium Difficile. Due to the failure to improve after full medical treatment, a derivative loop ileostomy and intra-operatory colonic lavage were performed, leaving a Foley catheter in the proximal colon. In the postoperative period, anterograde colonic instillations of Vancomycin flushes through the catheter were performed every 6 hours. Forty eight hours after surgery, the patient improved. A colonoscopy prior to discharge showed resolution of the pseudomembranous colitis.