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OBJECTIVES: This study aims to determine the current state of CDD diagnosis and epilepsy treatment in an upper-middle-income country. METHODS: Forty-seven families of the Brazilian CDD Association were invited to participate in an online survey to gather information about the diagnosis and treatment of epilepsy. RESULTS: Forty-three families (91.5%) of unrelated patients with confirmed genetic diagnosis of CDD participated. The median age was 7 years (ranging from 1.3-25 years) and the male: female ratio was 1:6. Early and severe epilepsy started during infancy in 74.4%. Seizures occurred daily in 61.9% and 83.7% had clusters of seizures. The mean age of diagnosis was 3.3 years (ranging from 37 days to 16 years), and younger patients had an earlier diagnosis (p < 0.001). Patients were seen by an average of 4.4 physicians (1-15) before the diagnosis. The most relevant obstacles to genetic testing were cost (55.8%) and late requests by physicians (27.9%). At the moment of the assessment, patients received a mean of 3.6 ASMs/day (ranging from 1 to 5). Thirty-four (79.1%) caregivers reported side effects throughout life, including life-threatening events in 16.3%. SIGNIFICANCE: Based on our findings, a sense of urgency for genetic assessment implementation is evident since the delay in the diagnosis with unnecessary use of resources and excessive polytherapy with serious side effects cause a higher burden to the healthcare system, caregivers, and patients. PLAIN LANGUAGE SUMMARY: In this study, we assessed the diagnosis and treatment of patients with genetically confirmed DEE-CDKL5 from the Brazilian Association of CDD with an online survey. Caregivers reported a long delay in the diagnosis associated with cost and late referral to genetic testing, considered the last resource for one-third of the patients. Patients received a high number of ASM, mainly under polytherapy, with serious side effects. Although it is promising that younger patients received earlier diagnosis, public policies for genetic testing are needed to improve CDD patients' care.
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BACKGROUND: Mood disorders are the most frequent psychiatric disorders in patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS). The pathophysiological mechanisms in common between TLE and mood disorders include abnormalities in the serotonergic pathway. We aimed to evaluate the association between serotonin transporter genetic polymorphisms - 5-HTTLPR and 5-HTTVNTR - and the presence of mood disorders in patients with TLE-HS. METHODS: We evaluated 119 patients with TLE-HS, with and without psychiatric disorder; 146 patients diagnosed with major depressive disorder (MDD), and 113 healthy volunteers. Individuals were genotyped for the 5-HTTLPR and 5-HTTVNTR polymorphisms. RESULTS: No difference was observed between the TLE-HS groups, healthy controls, and MDD without epilepsy. There was a correlation between the 12-allele of the 5-HTTVNTR and the family history of patients with epilepsy with TLE-HS (pâ¯=â¯0.013). CONCLUSIONS: In this study conducted in two Brazilian centers, the serotonin transporter polymorphisms evaluated cannot be associated with depressive disorder in patients with TLE-HS. Still, they do have some influence over some clinical characteristics of epilepsy in TLE-HS. These data may not be reproduced in other populations with distinct ethnic characteristics.
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Trastorno Depresivo Mayor , Epilepsia del Lóbulo Temporal , Brasil , Depresión , Trastorno Depresivo Mayor/complicaciones , Trastorno Depresivo Mayor/genética , Trastorno Depresivo Mayor/patología , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/genética , Epilepsia del Lóbulo Temporal/patología , Hipocampo/patología , Humanos , Polimorfismo Genético/genética , Esclerosis/genética , Esclerosis/patología , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genéticaRESUMEN
PURPOSE: This study aimed to determine the presence of anxiety disorder and severity of anxiety symptoms in an extensive series of consecutive patients with JME and its association with epilepsy-related factors. In addition, we evaluated the impact of anxiety and clinical variables on social adjustment. METHODS: We prospectively evaluated 112 (56.2 % females, mean age 27.2 years) patients with an electroclinical diagnosis of JME and 61 (52.4 % females, mean age 29.3 years) healthy controls. Anxiety symptoms were assessed by the State and Trait Anxiety Inventory (STAI). Social functioning was addressed with Self-Report Social Adjustment Scale (SAS). The patient group was also evaluated with a psychiatric interview. RESULTS: Patients with JME presented more severe anxiety symptoms and worse social adjustment compared with controls. The presence of anxiety disorder and the severity of anxiety symptoms was associated with frequent seizures - generalized tonic-clonic seizures (p = 0.008) and drug-resistant epilepsy (p = 0.021). Regarding social adjustment, the severity of anxiety symptoms was associated with lower economic adjustment (p = 0.039), while the presence of anxiety disorder impacted family relationships (p 0.025). The presence of hard-to-control myoclonic seizure was associated with lower scores on work (p = 0.019), leisure activities (p = 0.008), family relationship (p = 0.022) and overall social adjustment (p = 0.038). CONCLUSION: Patients with JME have severe anxiety symptoms and worse social adjustment. Anxiety disorder and symptoms were associated with frequent seizures and drug-resistant epilepsy. Epilepsy-related factors and anxiety impaired distinct aspects of social functioning.
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Epilepsia Mioclónica Juvenil , Adulto , Ansiedad/epidemiología , Ansiedad/etiología , Trastornos de Ansiedad , Femenino , Humanos , Masculino , Convulsiones , Ajuste SocialRESUMEN
INTRODUCTION: Decision making (DM) is one aspect of impulsivity that can be defined by the ability to decide between two or more options in a given situation. To date, there are at least two types of DM that differ in the level of uncertainty, and how much information about consequences is provided. In this study, we aimed to evaluate the two domains of DM - under risk and ambiguous - with a comprehensive evaluation in a group of patients with juvenile myoclonic epilepsy (JME), and correlate with patients' characteristics, clinical variables, and neuropsychological evaluation for executive functions. METHODS: We evaluated 35 patients with JME and 39 healthy controls using the Iowa Gambling Task for DM under ambiguity and the Game Dice Task for DM under risk. We assessed the performance in Iowa Gambling Task and Game Dice Task through net scores, safe and risky choices, besides the type of decisions across time. RESULTS: Patients with JME had a higher number of risky choices compared to controls in the Game Dice Task. There was no significant difference between patients and controls in the Iowa Gambling Task. However, patients with higher seizure frequency had worse scores on decks C and D (safe choices) from the Iowa Gambling Task. CONCLUSION: Patients with JME have worse performance on DM under risk. The same was not observed for DM under ambiguity. Epilepsy-related factors and the presence of psychiatric disorders, but not executive dysfunction, were associated with a lower tendency for safe choices. These findings showed a dissociation between DM processes in patients with JME and a tendency to make disadvantageous decisions with measurable risks.
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Toma de Decisiones/fisiología , Epilepsia Mioclónica Juvenil/psicología , Pruebas Neuropsicológicas , Asunción de Riesgos , Incertidumbre , Adolescente , Adulto , Función Ejecutiva/fisiología , Femenino , Juego de Azar/diagnóstico , Juego de Azar/psicología , Humanos , Conducta Impulsiva/fisiología , Masculino , Persona de Mediana Edad , Epilepsia Mioclónica Juvenil/diagnóstico , Adulto JovenRESUMEN
PURPOSE: Some variants of the brain derived neurotrophic factors (BDNF) gene, namely the Val66Met (rs6265), may contribute the risk for epilepsy development. We aimed to investigate if this polymorphism was associated with the risk for epilepsy development in TLE-HS and its correlation with epilepsy-related factors and the presence of psychiatric disorders. METHODS: We assessed 119 patients with unequivocal TLE-HS and 112 healthy controls. Individuals were genotyped for the polymorphisms of the gene encoding BDNF Val66Met. RESULTS: There was no difference between TLE-HS and healthy controls, for the genotypic distribution (pâ¯=â¯0.636) and allelic distribution (pâ¯=â¯0.471). There was no correlation between Val66Met and epilepsy-related factors and for psychiatric comorbidities (pâ¯=â¯0.888). CONCLUSIONS: Our findings demonstrated that polymorphism Val66Met is not associated with TLE-HS, epilepsy-related factors and psychiatric comorbidities in this selected group of patients.
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Factor Neurotrófico Derivado del Encéfalo/genética , Epilepsia del Lóbulo Temporal/etiología , Epilepsia del Lóbulo Temporal/genética , Polimorfismo Genético , Adulto , Brasil , Comorbilidad , Epilepsia del Lóbulo Temporal/epidemiología , Epilepsia del Lóbulo Temporal/patología , Femenino , Hipocampo/patología , Humanos , Masculino , Trastornos Mentales/complicaciones , Trastornos Mentales/epidemiología , Trastornos Mentales/genética , Esclerosis/complicaciones , Esclerosis/epidemiología , Esclerosis/genética , Esclerosis/patologíaRESUMEN
The phospholipase A2 (PLA2) enzymes have been implicated in several neuropsychiatry disorders and activity alterations have been described in brain and platelet. Since brain tissue is not readily available for the measurement of PLA2 activity, it would be of interest to test directly whether PLA2 activities in both tissues are correlated. We performed this task assessing PLA2 activity in platelets and hippocampus collected simultaneously from 19 patients undergoing temporal lobectomy for treatment of refractory epilepsy. Our findings suggest that total PLA2 activity in platelets may reflect the total activity of the enzyme in the brain (rs=0.59, p=0.008). However in our sample no correlations were found between the subgroups of the enzyme in brain and in platelets. This lack of correlations may be due to different effects of drug treatment on the PLA2 subtypes. In face of the difficulty to obtain brain tissues from living patients, further studies with larger drug-free samples are warranted to clarify whether the use of platelets is a reliable strategy to reflect the subtypes of PLA2 activity in the brain.
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Plaquetas/enzimología , Epilepsia del Lóbulo Temporal/enzimología , Hipocampo/enzimología , Fosfolipasas A2/metabolismo , Adulto , Lobectomía Temporal Anterior , Epilepsia del Lóbulo Temporal/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
The few studies addressing semiology of psychogenic nonepileptic seizures (PNES) in children showed that this group differs from adults, considering the classical signs described. Our study with systematic assessment provides a direct comparison of the classical signs of psychogenic nonepileptic seizures (PNESs) in children and adults in order to establish the usefulness of the most important signs described for adults in children. Video-EEG recordings of patients with PNESs from 2006 to 2011 were analyzed. Twenty-five signs were selected as the most prevalent in literature, and their presence was evaluated. Events were categorized as either of the following: catatonic, major motor, minor motor, and subjective (Griffith et al., 2007 [11]). One hundred and fifteen patients were included; 63.5% were adults, 73.2% were females, and 14.4% had epilepsy. Adults presented more ictal eye closure (p=0.006), convulsions lasting >2 min (p<0.001), postictal speech change (p=0.021), vocalization during the "tonic-clonic" phase (p=0.005), and pelvic thrust movement (p=0.035). Biting the tip or side of the tongue and opisthotonos were rare and only present in adults. As for the semiological categories, major motor activity was the main feature in adults, and minor motor activity was more prevalent among children (52.9% and 38.1%, respectively; p=0.01). Our data showed that research about the distinct ictal features of PNESs, such as minor motor events that are more typical in children, is likely to be useful in promoting earlier recognition of PNESs in this population.
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Envejecimiento , Trastornos de Conversión/diagnóstico , Epilepsia , Trastornos Psicofisiológicos/diagnóstico , Adolescente , Adulto , Factores de Edad , Anciano , Niño , Trastornos de Conversión/epidemiología , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/epidemiología , Epilepsia/psicología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Observación , Trastornos Psicofisiológicos/epidemiología , Estudios Retrospectivos , Grabación en Video , Adulto JovenRESUMEN
OBJECTIVE: The aim of this work was to investigate whether increased activity of the enzyme phospholipase A(2) (PLA(2)) in the brain, as frequently reported in schizophrenia, is also related to psychosis in epilepsy. Our working hypothesis was based on the increased prevalence of schizophrenia-like psychosis in patients with temporal lobe epilepsy (TLE) secondary to mesial temporal sclerosis (MTS), as compared to patients with other forms of epilepsy. METHODS: We determined PLA(2) activity in hippocampal tissue from 7 patients with TLE-MTS and psychosis, as compared to 9 TLE-MTS patients without psychosis. Hippocampal tissue was obtained from patients who underwent an anterior temporal lobectomy due to therapy-resistant epilepsy. RESULTS: We found that patients with TLE-MTS and psychosis had a significantly increased calcium-independent PLA(2) activity as compared to patients without psychosis (p = 0.016). CONCLUSION: Our finding suggest that an increment in brain PLA(2) activity is not specific for schizophrenia, but rather may be associated to the manifestation of schizophrenia-like psychotic symptoms in general.
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Epilepsia del Lóbulo Temporal/patología , Hipocampo/metabolismo , Fosfolipasas A2/metabolismo , Trastornos Psicóticos/patología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Radioinmunoensayo/métodos , Estadísticas no Paramétricas , Adulto JovenRESUMEN
OBJECTIVES: In adults with epilepsy it is well known that the epileptic syndrome, seizure frequency and antiepileptic drug use may influence sexual function and behavior. However, knowledge acquired with adult populations has been extrapolated to teenagers, based on the supposition that these patients are influenced by similar factors. This study aimed to evaluate aspects related to sexuality obtained from female adolescents with epilepsy. METHODS: We carried out a prospective study of 35 female adolescents, with epilepsy, with ages from 10 to 20 years, and epileptic syndromes diagnosed according to ILAE criteria (1989). Information on sexual function and behavior of adolescents with epilepsy was evaluated by use of a standard questionnaire. Exclusion criteria were lack of menarche, previous endocrine or chronic clinical disorders, and moderate to severe mental retardation. RESULTS: No differences were observed between the age at first sexual intercourse, sexual activity, libido and orgasm of adolescents with epilepsy when compared to controls. Epilepsy clinical variables such as age of onset, duration and severity had no significant relationship with distinct aspects of sexual function and behavior. CONCLUSION: Adolescents with epilepsy represent a special patient group because, even with their chronic disorder, they have an active sexual life, despite the severity of their disorder. Therefore, aspects related to sexuality require special attention by health professionals when attending to adolescents with epilepsy.
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Epilepsia/fisiopatología , Conducta Sexual/fisiología , Adolescente , Niño , Femenino , Humanos , Disfunciones Sexuales Fisiológicas/etiología , Disfunciones Sexuales Psicológicas/etiología , Adulto JovenRESUMEN
OBJETIVO: Mulheres com epilepsia apresentam com maior freqüência alterações relacionadas à sexualidade. O conhecimento adquirido com as adultas tem sido usado para as adolescentes, pressupondo-se que elas também sofram influência semelhante. Este estudo teve como objetivo avaliar aspectos relacionados à sexualidade nas adolescentes com epilepsia. MÉTODOS: Foram estudadas 35 pacientes do sexo feminino, com epilepsia, com idades entre 10 a 20 anos. Os critérios de exclusão foram: pacientes que ainda não apresentaram a menarca, com doença crônica associada, ou deficiência mental moderada a grave. As informações sobre a função sexual das adolescentes foram avaliadas através de um questionário padrão. RESULTADOS: Não foi observada diferença entre a idade da primeira relação sexual, atividade sexual, libido e orgasmo entre as adolescentes com epilepsia e o grupo controle. Observaram-se índices de gravidez superiores entre as adolescentes com epilepsia. CONCLUSÃO: Adolescentes com epilepsia têm vida sexualmente ativa, não apresentando as mesmas disfunções que a mulher adulta. Nesta série, nós observamos freqüência elevada de gestação, sugerindo a falta de aconselhamento adequado. Os aspectos relacionados à sexualidade requerem atenção especial por parte dos profissionais de saúde que atendem adolescentes com epilepsia.
OBJECTIVES: Women with epilepsy have higher rates of sexual dysfunction. However, knowledge acquired with adult populations has been extrapolated to teenagers, by surmising that these patients are submitted to similar factors. This study aims to evaluate aspects related to sexuality in female adolescents with epilepsy. METHODS: We studied 35 female adolescents, with epilepsy, ages from 10 to 20 years. The criteria of exclusion were: patients that had not yet presented a first period, patients with previous endocrine or clinical chronic disorders, and patients with moderate to severe mental deficiency. Information on sexual behavior of adolescents with epilepsy was evaluated by use of a standard questionnaire. RESULTS: No differences were observed between age at first sexual intercourse, sexual activity, libido and orgasm of adolescents with epilepsy when compared to controls. Higher rates of pregnancy occurred in adolescents with epilepsy when compared to controls. CONCLUSION: Adolescents with epilepsy have an active sexual life, without the dysfunctions presented by adults. In this series, we observed high rates of pregnancy suggesting lack of proper counseling. Therefore, aspects related to sexuality require special attention by health professionals when attending to adolescents with epilepsy.
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Humanos , Adolescente , Conducta Sexual , Epilepsia/patología , Enfermedad Crónica , Interpretación Estadística de Datos , ConsejoRESUMEN
There is evidence that psychogenic nonepileptic seizures (PNES) remain underdiagnosed, especially in children and adolescents. Diagnosis of such events is even more difficult in patients that do have epilepsy, leading to delayed diagnosis and treatment and, consequently, iatrogenic complications. This study aimed to evaluate possible risk factors in children with epilepsy who had PNES. Seizures and epileptic syndromes were classified according to International League Against Epilepsy guidelines. Patients were evaluated with a structured psychiatric anamnesis and classified according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition; Classification of Mental and Behavioral Disorders: Diagnostic Criteria for Research; and Schedule for Affective Disorders and Schizophrenia for School-Age Children--Epidemiological Version. Risk factors such as head trauma, physical, sexual and psychological abuse, and psychiatric diagnoses, among others, were investigated. Family history of epilepsy and psychiatric illness were detected by review of medical records and/or follow-up interviews. Gender was not a predictive factor, and although older children had a higher risk for PNES, younger children also presented truly psychogenic events mimicking epileptic seizures. The most common associated psychiatric diagnosis was depression. Family histories for epilepsy and psychiatric illness were a frequent finding. An inadequate family environment was more common than sexual or physical abuse. Current knowledge obtained from adults with PNES has been used to understand children with PNES. However, this study of children with epilepsy revealed some similarities and many differences. These features may help to identify predictive factors in a population in need of adequate diagnosis of and therapy for this long-lasting pathology.
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Depresión/complicaciones , Epilepsia/complicaciones , Trastornos Mentales/complicaciones , Convulsiones/etiología , Trastornos Somatomorfos/diagnóstico , Adolescente , Niño , Preescolar , Comorbilidad , Diagnóstico Diferencial , Electroencefalografía , Relaciones Familiares , Femenino , Humanos , Masculino , Factores de Riesgo , Convulsiones/diagnóstico , Convulsiones/psicología , Trastornos Somatomorfos/etiología , Grabación de Cinta de VideoRESUMEN
We describe an 18-year-old boy with a frontofacial syndrome. The presence of severe epilepsy led to a neuroimaging investigation, which revealed a diffuse pachygyric (normal thickness and simplified folding) cortex that was bilateral and affected all supratentorial regions, sparing the medial and inferior aspects of the frontal lobe plus the posterior occipital region. In addition, an unusual skull base presentation with small posterior fossa, narrowed foramen magnum, and low torcular and tentorial insertions was documented. Dysmorphic ventricles and enlarged cavi of the septi pellucidum, vergae, and velum interpositum were also noted. This case shares many similarities with two patients formerly described by Fryns and Aftimos, who were previously classified as having mental retardation and multiple congenital anomalies syndrome. The existence of a new case corroborates the idea of a distinct condition with particular characteristic dysmorphic facial features and the presence of a specific malformation of cortical development associated with severe epilepsy. We believe that epilepsy and pachygyria play a central role in distinguishing this syndrome from others classified as frontofacial or cerebrofrontofacial syndromes, and we propose the term "Fryns-Aftimos syndrome" to name it.
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Anomalías Múltiples/patología , Corteza Cerebral/anomalías , Epilepsia/patología , Facies , Adolescente , Humanos , Masculino , SíndromeRESUMEN
The purpose of the present report is to document a 20-year-old woman with glycogenosis type III who presented a malformation of cortical development, in this case a polymicrogyria over bilateral perisylvian regions. Association of a malformation of cortical development in this type of glycogenosis has not been previously reported. The existence of previous cases of glycogenosis associated with malformations of cortical development led us to believe that glycogen storage during pregnancy may act as a harmful prenatal event. On the other hand, the presence of a lesion associated with severe neurologic deficits in one patient with a milder form of glycogenosis is in disagreement with the idea that there is a strong correlation between the severity of the central nervous system lesion and that of the disease.