Dissociation between decision making under ambiguity and risk in patients with juvenile myoclonic epilepsy.

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.

Higher IQ in juvenile myoclonic epilepsy: Dodging cognitive obstacles and "masking" impairments.

Executive deficits and impulsiveness are extensively reported in juvenile myoclonic epilepsy (JME). Previous literature suggests that intelligence may mediate these deficits. In this study, we evaluated and compared the performance of adults with JME with high and low intelligence quotient (IQ) and controls on tasks for executive function (EF) and impulsive traits. We investigated the neuropsychological performance of 53 adults with JME and below average IQ (57% women; 26.9 [±7.88] years; mean IQ: 89.8 [±5.1]), 26 adults with JME and average or above average IQ (53.8% women; 28.2 [±9.33] years; mean IQ: 110.7 [±8.3]), 38 controls with below average IQ (55% women; 28.4 [±8.4] years; mean IQ: 90.1 [±5.8]), and 31 controls with average or above average IQ (61.3% women; 32.20 [±11.3] years; mean IQ: 111.6 [±10.5]) with a comprehensive battery of neuropsychological tests that measure executive/attentional function. Impulsive traits were assessed using the Cloninger et al.'s Temperament and Character Inventory (novelty seeking (NS) domain). The group with JME with higher IQ presented worse performance compared with controls with higher IQ on Controlled Oral Word Association (COWA) and Wisconsin Card Sorting Test (WCST) (errors). This group showed worse performance than controls with lower IQ on Stroop Color-Word Test (SCT) 1, Trail Making (TM) A, COWA, and WCST (errors). Patients with lower IQ showed worse performance than controls with higher IQ on Digit Span Forward (DSF), Digit Span Backward (DSB), SCT1, SCT2, SCT3, TM A, COWA, and WCST (errors and failure to maintain set). Patients with lower IQ showed worse performance than controls with lower IQ on DSF, DSB, SCT1, SCT2, SCT3, TM A, TM B, COWA, and WCST (errors and failure to maintain set). Patients from groups with low and high IQ showed higher scores than controls with higher and lower IQ on impulsivity for NS1 and NS2 (except for patients with higher IQ versus controls with lower IQ). Adults with JME and higher IQ show less evidence of EF deficits compared with those with JME and below average IQ, suggesting that a higher degree of intellectual efficiency may act as a compensatory mechanism. However, it does not minimize some aspects of impulsive traits. Patients with JME and higher cognitive reserve may create strategies to dodge their cognitive obstacles. In this context, intelligence may protect and, at the same time, "mask" impairments that could be detected earlier.

Delineating behavioral and cognitive phenotypes in juvenile myoclonic epilepsy: Are we missing the forest for the trees?

INTRODUCTION: Patients with juvenile myoclonic epilepsy (JME) have executive dysfunction and impulsive traits. There are lines of evidence that JME is a heterogeneous epilepsy syndrome considering outcome. In this study, we aimed to analyze this heterogeneity beyond seizure control. The objective was to identify whether the pattern of cognitive dysfunction and impulse control is also heterogeneous, in an attempt to establish possible differences in patients with easy- and hard-to-control epilepsies. METHODS: Essentially, 57 patients with JME were compared with 44 controls. Patients and controls were assessed with a neuropsychological battery for executive, attention, and memory functions. The expression of impulsive traits was evaluated with the Temperament and Character Inventory - novelty seeking domain. Then, patients were categorized according to seizure control as having easy- and hard-to-control JME. RESULTS: Patients with hard-to-control JME showed worse performance in 12 out of 25 neuropsychological tests than those with easy-to-control JME. Patients with hard-to-control JME also demonstrated significantly higher scores in novelty seeking - subfactor impulsiveness (p=0.002). SIGNIFICANCE: Our study demonstrated the existence of distinct or more severe cognitive and psychiatric profiles in a subset of patients with JME. Patients with treatment-refractory seizures seem to present a broader impairment related to both cognitive deficits and impulsive traits. These findings suggest that patients with JME are not equally compromised by executive and memory deficits or dysfunction, neither by their impulsive traits. Thus, there is a need for a better characterization of patients with JME to include diverse phenotypes since our results suggest a possible existence of distinct groups of patients with JME.

Distinct domains of impulsivity are impaired in juvenile myoclonic epilepsy but not in temporal lobe epilepsy.

OBJECTIVE: The Barratt Impulsiveness Scale (BIS-11) is the most widely used questionnaire to study impulsivity in persons with psychiatric disorders, but it has rarely been applied to persons with epilepsy. The present study aimed to evaluate the usefulness of BIS-11 as a tool to explore impulsivity in two distinct epilepsy syndromes. METHOD: The BIS-11 was applied to 20 patients with juvenile myoclonic epilepsy (JME) (32.5±8.95years old), 20 patients with temporal lobe epilepsy (TLE) (37.7±13.25years old), and 26 healthy controls (31.86±11.25years old). The scores in motor, attentional, and lack of planning impulsivity were compared between groups. RESULTS: Patients with JME showed higher scores than patients with TLE and controls in all domains: motor (JME vs TLE: 28.60 vs 13.25 (mean score), p<0.001 and JME vs controls: 28.60 vs 14.12, p<0.001), attentional (JME vs TLE: 21.55 vs 13.45, p<0.001 and JME vs controls: 21.55 vs 14.88, p<0.001) and nonplanning (JME vs TLE: 28.05 vs 13.10, p<0.001 and JME vs controls: 28.05 vs 16.15, p<0.001). CONCLUSION: Higher BIS-11 scores in all domains of impulsivity [i.e., motor, attentional, and lack of planning] corroborated previous findings described in patients with JME. On the other hand, BIS-11 could not demonstrate problem solving and inhibitory control deficits related to impulsive behavior, which were described in patients with TLE. Other behavioral measures may be more sensitive to some aspects of impulsivity in TLE. Our results reinforce the concept that distinct epileptic syndromes require different neuropsychological approaches, especially considering a complex construct such as impulsivity.

Impulsivity and seizure frequency, but not cognitive deficits, impact social adjustment in patients with juvenile myoclonic epilepsy.

PURPOSE: Despite growing evidence on the occurrence of poor psychosocial adjustment, to the moment there is no formal assessment of social adjustment (SA) using a validated instrument developed and standardized for this purpose in patients with juvenile myoclonic epilepsy (JME). We aimed to: (1) verify social adjustment in patients with JME with an objective scale and; (2) identify whether clinical variables, impulsiveness, and neuropsychological profile are associated with worse social adjustment. METHODS: We prospectively evaluated 42 patients with an unequivocal diagnosis of JME and 42 controls. The inclusion criteria for patients and controls included age range from 16 to 40 years and an estimated intelligence quotient (IQ) ranging from 85 to 110. One trained neuropsychologist administered the scales and tests in a standard sequence. Social Adjustment was evaluated by The Self-Report Social Adjustment Scale (Weissman & Bothwell, 1976), a 42-item scale, measuring performance in seven major areas: work; social and leisure activities; relationship with extended family; marital role as a spouse; parental role; membership in the family unit; and economic adequacy. Impulsivity was assessed by using the Temperament and Character Inventory (Cloninger, 2000). Patients with JME and control subjects were evaluated with a comprehensive battery of neuropsychological tests evaluating executive and memory functions. We evaluated the age at onset; time from onset to seizure control with antiepileptic drugs (duration of epilepsy); seizure control; frequency of myoclonic seizures; frequency of generalized tonic-clonic GTC seizures; frequency of absence seizures; family history of epilepsy; family history of psychiatric disorders; and personal history of psychiatric disorders. KEY FINDINGS: The score on Global Social Adjustment was worse than controls (p = 0.001), especially on the factors: Work (p = 0.032); Extended Family (p = 0.005). Higher Novelty Seeking (NS) scores were significantly correlated with worse on Global (p = 0.002); Work (p = 0.001) and Leisure (p = 0.003). There was no correlation between cognitive performance and Social Adjustment Scale (SAS) factors. Higher seizure frequency--myoclonic (p = 0.005) and GTC (p = 0.035)--were correlated with higher scores on factor Work of SAS. SIGNIFICANCE: Our findings suggest that patients with JME have worse social adjustment in two relevant aspects of their lives--work and familiar relationship. In this series of patients with JME, higher seizure frequency and impulsive traits, but not cognitive performance, were correlated with worse social adjustment.

Juvenile myoclonic epilepsy: the impact of clinical variables and psychiatric disorders on executive profile assessed with a comprehensive neuropsychological battery.

Executive dysfunction is reported in juvenile myoclonic epilepsy (JME). However, batteries employed in previous studies included no more than three tests of executive function. In this study, we aimed to assess executive and attentional functions in JME using a comprehensive battery of eight tests (encompassing fifteen subtests). We also evaluated neuropsychological profiles using a clinical criterion of severity and correlated these findings with epilepsy clinical variables and the presence of psychiatric disorders. We prospectively evaluated 42 patients with JME and a matched control group with Digit Span tests (forward and backward), Stroop Color-Word Test, Trail Making Test, Wisconsin Card-Sorting Test, Matching Familiar Figures Test and Word Fluency Test. We estimated IQ with the Matrix Reasoning and Vocabulary subtests of the Wechsler Abbreviated Intelligence Scale. The patients with JME showed specific deficits in working memory, inhibitory control, concept formation, goal maintenance, mental flexibility, and verbal fluency. We observed attentional deficits in processes such as alertness and attention span and those requiring sustained and divided attention. We found that 83.33% of the patients had moderate or severe executive dysfunction. In addition, attentional and executive impairment was correlated with higher frequency of seizures and the presence of psychiatric disorders. Furthermore, executive dysfunction correlated with a longer duration of epilepsy. Our findings indicate the need for comprehensive neuropsychological batteries in patients with JME, in order to provide a more extensive evaluation of attentional and executive functions and to show that some relevant deficits have been overlooked.

Personality traits in patients with juvenile myoclonic epilepsy.

There is evidence of personality disorders in patients with juvenile myoclonic epilepsy (JME). To date, there have been no published quantitative studies on personality traits in JME. The aim of the work described here was to study a group of patients with JME and quantitatively measure personality traits. We evaluated 42 patients (mean age: 26.57 years, SD: 8.38) and 42 controls (mean age: 26.96, SD: 8.48) using a validated personality inventory, the Temperament and Character Inventory (TCI). We applied two scores, one for the Beck Depression Inventory and one for the State-Trait-Anxiety Inventory, as depression and anxiety may impact the performance of these patients on the TCI. We compared both groups on TCI scales using analysis of covariance with Beck Depression Inventory and State-Trait-Anxiety Inventory scores as covariates. Patients with JME obtained significantly higher scores on Novelty Seeking (P=0.001) and Harm Avoidance (P=0.002) and significantly lower scores on Self-Directedness (P=0.001). Patients with JME have a higher expression of impulsive personality traits that demand early recognition to avoid further consequences and facilitate social insertion, consequently avoiding future stigma.

Anxiety symptoms are the strongest predictor of quality of life in temporal lobe epilepsy.

PURPOSE: It is established that the severity of depressive and anxiety symptoms is associated with poorer quality of life (QOL) in persons with drug-resistant epilepsy. We aimed to verify the presence of subsyndromic depressive episodes (SDEs) and subsyndromic anxiety episodes (SAEs) in persons with temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) compared to healthy controls and to determine the impact of depressive and anxiety symptoms on patients' QOL. METHODS: We prospectively evaluated 35 persons with TLE-HS and 90 healthy controls. QOL was assessed by the Epilepsy Surgery Inventory (ESI) and QOL in Epilepsy Inventory-31 (QOLIE-31). The Beck Depression Inventory (BDI) and the State-Trait Anxiety Inventory (STAI-X) were used to assess symptoms, and SDEs and SAEs diagnosis were made considering the total scores of BDI (<9) and STAI-Trait (<49), respectively. RESULTS: Persons with TLE-HS had higher symptoms on BDI, STAI-S, and STAI-T. They have 3.011 greater odds of presenting SDEs and 7.056 times odds, SAEs. The depressive and anxiety symptoms, added in the model with epilepsy-related factors, accounted for a significant increase in the variance in several aspects of QOL. Anxiety-trait symptoms are the most critical individual determinant of the QOL. CONCLUSION: Our results demonstrated that persons with TLE-HS had greater odds of presenting SDE and SAE than healthy controls. Besides, there was a relationship between anxiety and depressive symptoms and worse QOL in TLE-HS. It is essential to be aware of psychiatric symptoms, even though these symptoms do not meet the criteria to be considered a "disorder."

Seizure control and anxiety: Which factor plays a major role in social adjustment in patients with Juvenile Myoclonic Epilepsy?

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.

Epilepsia Mioclônica Juvenil: endofenótipos distintos considerando aspectos neuropsicológicos, traços de personalidade e variáveis clínicas / Juvenile Myoclonic Epilepsy: distinct phenotypes considering aspects neuropsychological, personality traits and variables clinics

INTRODUÇÃO: Estudos neuropsicológicos sugerem que indivíduos com EMJ apresentam disfunção executiva além de maior impulsividade, refletindo uma disfunção de lobo frontal. Este estudo teve como objetivos verificar: 1. o desempenho e gravidade de comprometimento das funções executivas; 2. presença de traços de personalidade impulsivos; 3. a correlação entre o desempenho nas funções cognitivas e a expressão de traços de personalidade impulsivos e; 4. se as variáveis da epilepsia se correlacionam com as disfunções executivas e a um pior controle de impulsos. MÉTODOS: Foram avaliados 42 pacientes com EMJ e 42 sujeitos saudáveis pareados por idade, escolaridade e nível socioeconômico, através de bateria compreensiva de testes neuropsicológicos avaliadores de funções executivas e questionário padronizado de avaliação de traços de personalidade (ITC). RESULTADOS: Pacientes com EMJ tiveram pior desempenho nos testes de atenção imediata, seletiva e sustentada; controle mental e inibitório; flexibilidade mental; fluência verbal; formação de conceitos e manutenção de metas. A disfunção executiva foi moderada/grave em 83,33 por cento. Pacientes com EMJ apresentaram maior expressão dos traços de personalidade impulsivos. A disfunção executiva se correlacionou com o pior controle dos impulsos. Pacientes refratários apresentaram pior disfunção executiva e maior expressão de traços impulsivos. CONCLUSÕES: Nosso estudo demonstra a presença de disfunção atencional e executiva nos pacientes com EMJ, além da presença de traços de personalidade impulsivos. Além disso, verificamos a existência de dois grupos distintos de pacientes, sendo que pacientes mais refratários apresentam-se globalmente comprometidos. Estes achados sugerem que há uma necessidade de melhor caracterização fenotípica dos pacientes com EMJ a fim de incluir endofenótipos visto que nossos resultados demonstram uma possível existência de grupos distintos de pacientes com EMJ.

INTRODUCTION: Neuropsychological studies suggest that patients with JME have executive dysfunction and impulsiveness, reflecting a possible frontal lobe dysfunction. This study aimed to verify: 1. the performance and severity of attentional and executive functions; 2. presence of impulsive personality traits; 3. correlation between cognitive performance and the expressions of impulsive personality traits; 4. correlation between epilepsy variables and neuropsychological performance as well as worse impulse control. METHODS: We evaluated 42 patients with JME and a group of 42 control subjects, matched for age, education and socioeconomic status with a comprehensive battery of neuropsychological tests of attentional and executive functions and a standardized assessment of personality traits (TCI). RESULTS: Patients with JME showed worse performance than controls on tests of attentional span, working memory, inhibitory control, concept formation, maintenance of goals, and verbal fluency. Executive dysfunction was severe/moderate in 83.33 percent. Patients with JME showed higher expression of personality traits associated with an impaired impulse control. Attentional/executive dysfunction was correlated with poor impulse control. Refractory patients had worse executive dysfunction with an even a greater presence of impulsive personality traits. CONCLUSIONS: Our study demonstrates the presence of attentional and executive dysfunction in patients with JME, as well as the presence of impulsive personality traits. We also note the existence of two distinct groups of patients, were more refractory patients appear to present broader impairment. These findings suggest that there is a need for better phenotypic characterization of patients with JME to include diverse phenotypes since our results suggest a possible existence of distinct groups of patients with JME.