Epilepsy, Cognition, and Behavior: The clinical picture

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Berg, Anne T.

2010-01-01

Although epilepsy is defined by the occurrence of spontaneous epileptic seizures, a large body of evidence indicates that epilepsy is linked to a spectrum behavioral, psychiatric, and cognitive disorders as well as to sudden death. Explanations for these associations include: (1) The effects of structural lesions which may impair the functions subserved by the regions of the brain involved in the lesion. (2) The effects of seizure activity which may begin well before a clinical seizure occurs and may persist long after it is over raising questions about what truly constitutes “interictal.” In addition, encephalopathic effects of epilepsy in infancy during critical periods in development may be particularly severe and potentially irreversible. (3) Shared mechanisms underlying seizures as well as these other disorders in the absence of structural lesions or separate diseases of the CNS. Epidemiological and clinical studies demonstrate the elevated risk of cognitive, psychiatric, and behavioral disorders not just during but also prior to the onset of epilepsy (seizures) itself. These may outlast the active phase of epilepsy as well. The mounting evidence argues strongly for the recognition of epilepsy as part of a spectrum of disorders and against the notion that even uncomplicated epilepsy can a priori be considered benign. PMID:21214534

Epilepsy in Children with Intellectual Disability in Bosnia and Herzegovina: Effects of Sex, Level and Etiology of Intellectual Disability

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Memisevic, Haris; Sinanovic, Osman

2009-01-01

The purpose of this study was to examine the occurrence of epilepsy in children with intellectual disability. An additional goal was to determine if there were statistical differences in the occurrence of epilepsy related to the sex, level and etiology of intellectual disability of children. The sample consisted of 167 children with intellectual…

Effect of learning disabilities on academic self-concept in children with epilepsy and on their quality of life.

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Brabcová, Dana; Zárubová, Jana; Kohout, Jiří; Jošt, Jiří; Kršek, Pavel

2015-01-01

Academic self-concept could significantly affect academic achievement and self-confidence in children with epilepsy. However, limited attention has been devoted to determining factors influencing academic self-concept of children with epilepsy. We aimed to analyze potentially significant variables (gender, frequency of seizures, duration of epilepsy, intellectual disability, learning disability and attention deficit hyperactivity disorder) in relation to academic self-concept in children with epilepsy and to additional domains of their quality of life. The study group consisted of 182 children and adolescents aged 9-14 years who completed the SPAS (Student's Perception of Ability Scale) questionnaire determining their academic self-concept and the modified Czech version of the CHEQOL-25 (Health-Related Quality of Life Measure for Children with Epilepsy) questionnaire evaluating their health-related quality of life. Using regression analysis, we identified learning disability as a key predictor for academic-self concept of children with epilepsy. While children with epilepsy and with no learning disability exhibited results comparable to children without epilepsy, participants with epilepsy and some learning disability scored significantly lower in almost all domains of academic self-concept. We moreover found that children with epilepsy and learning disability have significantly lower quality of life in intrapersonal and interpersonal domains. In contrast to children with epilepsy and with no learning disability, these participants have practically no correlation between their quality of life and academic self-concept. Our findings suggest that considerable attention should be paid to children having both epilepsy and learning disability. It should comprise services of specialized counselors and teaching assistants with an appropriate knowledge of epilepsy and ability to empathize with these children as well as educational interventions focused on their teachers

Accelerated cognitive decline in a rodent model for temporal lobe epilepsy

NARCIS (Netherlands)

Schipper, Sandra; Aalbers, Marlien W.; Rijkers, Kim; Lagiere, Melanie; Bogaarts, Jan G.; Blokland, Arjan; Klinkenberg, Sylvia; Hoogland, Govert; Vles, Johan S. H.

2016-01-01

Objective: Cognitive impairment is frequently observed in patients with temporal lobe epilepsy. It is hypothesized that cumulative seizure exposure causes accelerated cognitive decline in patients with epilepsy. We investigated the influence of seizure frequency on cognitive decline in a rodent

Accelerated cognitive decline in a rodent model for temporal lobe epilepsy.

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Schipper, Sandra; Aalbers, Marlien W; Rijkers, Kim; Lagiere, Melanie; Bogaarts, Jan G; Blokland, Arjan; Klinkenberg, Sylvia; Hoogland, Govert; Vles, Johan S H

2016-12-01

Cognitive impairment is frequently observed in patients with temporal lobe epilepsy. It is hypothesized that cumulative seizure exposure causes accelerated cognitive decline in patients with epilepsy. We investigated the influence of seizure frequency on cognitive decline in a rodent model for temporal lobe epilepsy. Neurobehavioral assessment was performed before and after surgery, after the induction of self-sustaining limbic status epilepticus (SSLSE), and in the chronic phase in which rats experienced recurrent seizures. Furthermore, we assessed potential confounders of memory performance. Rats showed a deficit in spatial working memory after the induction of the SSLSE, which endured in the chronic phase. A progressive decline in recognition memory developed in SSLSE rats. Confounding factors were absent. Seizure frequency and also the severity of the status epilepticus were not correlated with the severity of cognitive deficits. The effect of the seizure frequency on cognitive comorbidity in epilepsy has long been debated, possibly because of confounders such as antiepileptic medication and the heterogeneity of epileptic etiologies. In an animal model of temporal lobe epilepsy, we showed that a decrease in spatial working memory does not relate to the seizure frequency. This suggests for other mechanisms are responsible for memory decline and potentially a common pathophysiology of cognitive deterioration and the occurrence and development of epileptic seizures. Identifying this common denominator will allow development of more targeted interventions treating cognitive decline in patients with epilepsy. The treatment of interictal symptoms will increase the quality of life of many patients with epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

Cognitive predictors of adaptive functioning in children with symptomatic epilepsy.

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Kerr, Elizabeth N; Fayed, Nora

2017-10-01

The current study sought to understand the contribution of the attention and working memory challenges experienced by children with active epilepsy without an intellectual disability to adaptive functioning (AF) while taking into account intellectual ability, co-occurring brain-based psychosocial diagnoses, and epilepsy-related variables. The relationship of attention and working memory with AF was examined in 76 children with active epilepsy with intellectual ability above the 2nd percentile recruited from a tertiary care center. AF was measured using the Scales of Independent Behavior-Revised (SIB-R) and compared with norm-referenced data. Standardized clinical assessments of attention span, sustained attention, as well as basic and more complex working memory were administered to children. Commonality analysis was used to investigate the importance of the variables with respect to the prediction of AF and to construct parsimonious models to elucidate the factors most important in explaining AF. Seventy-one percent of parents reported that their child experienced mild to severe difficulties with overall AF. Similar proportions of children displayed limitations in domain-specific areas of AF (Motor, Social/Communication, Person Living, and Community Living). The reduced models for Broad and domain-specific AF produced a maximum of seven predictor variables, with little loss in overall explained variance compared to the full models. Intellectual ability was a powerful predictor of Broad and domain-specific AF. Complex working memory was the only other cognitive predictor retained in each of the parsimonious models of AF. Sustained attention and complex working memory explained a large amount of the total variance in Motor AF. Children with a previously diagnosed comorbidity displayed lower Social/Communication, Personal Living, and Broad AF than those without a diagnosis. At least one epilepsy-related variable appeared in each of the reduced models, with age of

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

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de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G F; Piard, Juliette; Minassian, Berge A; Nezarati, Marjan M; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van ‘t Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H; Koeleman, Bobby P C

2016-01-01

Background Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Methods Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible. Results All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles. Conclusions Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. PMID:27358180

[Advances in research on cognitive function related to temporal lobe epilepsy: focus on social cognitive function].

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Yamano, Mitsuhiko; Akamatsu, Naoki; Tsuji, Sadatoshi

2012-09-01

Research on cognitive function related to temporal lobe epilepsy has thus far focused on memory, language, and general intelligence. Recently, however, the concept of social cognitive function has been proposed in the field of neuropsychology. Social cognitive function refers collectively to the higher cognitive functions that are essential in our social lives, and its representative aspects are facial expression recognition and decision-making. Emotional processing centered around the amygdala is thought to play a key role in the neural mechanism of this function. We conducted a study on the social cognitive function (decision-making) of patients with temporal lobe epilepsy, and found that this function is reduced in these patients, and that the right amygdalo-hippocampal complexes play an important role. In order to ensure the best possible treatment for epilepsy patients, it is necessary not only to make an accurate diagnosis and provide appropriate treatment, but also to provide support for enabling a smoother social life from the perspective of social cognitive function. Future research developments in this field are expected to contribute to total management in medical care for epilepsy patients.

Living with epilepsy accompanied by cognitive difficulties: young adults' experiences.

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Gauffin, Helena; Flensner, Gullvi; Landtblom, Anne-Marie

2011-12-01

Epilepsy can sometimes be followed by memory impairment. This can result from the underlying cause of epilepsy or from recurrent seizures, or can be a side effect of antiepileptic drugs or a symptom of another disease such as depression. The aim of the study described here was to explore the experience of living with epilepsy and subjective cognitive decline. To better understand the deeper meaning of the phenomenon, a qualitative design was chosen. Fourteen adults aged 18-35 took part in focus group interviews. The participants were divided into four groups, two groups of women and two groups of men, and the interviews were conducted according to a semistructured protocol. Transcripts were analyzed in accordance with the content analysis guidelines. Four themes emerged: "affecting the whole person," "influencing daily life," "affecting relationships," and "meeting ignorance in society." Cognitive decline has a heavy impact on young adults with intractable epilepsy. In contrast to seizures, the cognitive decline is persistent. The themes reflected different hardships faced by the participants. The consequences of living with epilepsy and cognitive impairment concerned education, employment, social life, self-esteem, and hope for the future. The participants were already using strategies to cope with their cognitive decline, but may benefit from help in developing new strategies to better adjust to their memory problems. Development of more educational programs for both people with epilepsy and their relatives could improve their difficult situations. With help, people can learn to adjust their goals in life and live a fulfilling life despite the disease. Copyright © 2011 Elsevier Inc. All rights reserved.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

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Ali, Zafar; Klar, Joakim; Jameel, Mohammad; Khan, Kamal; Fatima, Ambrin; Raininko, Raili; Baig, Shahid; Dahl, Niklas

2016-12-15

We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). MRI revealed typical cerebellar and pontine changes associated with ARSACS as well as multiple supratentorial changes in both families as likely contributing factors to the cognitive symptoms. Intellectual disability and behavioral abnormalities have been reported in some cases of ARSACS but are not a part of the characteristic triad of symptoms that includes cerebellar ataxia, spasticity and peripheral neuropathy. Our combined findings bring further knowledge to the phenotypic spectrum, neurodegenerative changes and genetic variability associated with the SACS gene of clinical and diagnostic importance. Copyright © 2016. Published by Elsevier B.V.

Management challenges in children with both epilepsy and intellectual disability.

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Buelow, Janice M; Shore, Cheryl P

2010-01-01

People who have both epilepsy and intellectual disability have significant problems requiring skilled health care management. Clinical nurse specialists have the unique opportunity to work with these people and their families to help them develop self-management and family management skills. In this article, we describe some factors associated with intellectual disability and epilepsy. In addition, we address the management challenges associated with this dual diagnoses in 3 areas: (1) problems associated with the management of seizure and prescription management, (2) problems associated with the seizure management other than prescriptions, and (3) life management issues. Finally, we suggest ways that clinical nurse specialists can foster development of management skills.

Cognitive functions, electroencephalographic and diffusion tensor imaging changes in children with active idiopathic epilepsy.

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A Yassine, Imane; M Eldeeb, Waleed; A Gad, Khaled; A Ashour, Yossri; A Yassine, Inas; O Hosny, Ahmed

2018-07-01

Neurocognitive impairment represents one of the most common comorbidities occurring in children with idiopathic epilepsy. Diagnosis of the idiopathic form of epilepsy requires the absence of any macrostructural abnormality in the conventional MRI. Though changes can be seen at the microstructural level imaged using advanced techniques such as the Diffusion Tensor Imaging (DTI). The aim of this work is to study the correlation between the microstructural white matter DTI findings, the electroencephalographic changes and the cognitive dysfunction in children with active idiopathic epilepsy. A comparative cross-sectional study, included 60 children with epilepsy based on the Stanford-Binet 5th Edition Scores was conducted. Patients were equally assigned to normal cognitive function or cognitive dysfunction groups. The history of the epileptic condition was gathered via personal interviews. All patients underwent brain Electroencephalography (EEG) and DTI, which was analyzed using FSL. The Fractional Anisotropy (FA) was significantly higher whereas the Mean Diffusivity (MD) was significantly lower in the normal cognitive function group than in the cognitive dysfunction group. This altered microstructure was related to the degree of the cognitive performance of the studied children with epilepsy. The microstructural alterations of the neural fibers in children with epilepsy and cognitive dysfunction were significantly related to the younger age of onset of epilepsy, the poor control of the clinical seizures, and the use of multiple antiepileptic medications. Children with epilepsy and normal cognitive functions differ in white matter integrity, measured using DTI, compared with children with cognitive dysfunction. These changes have important cognitive consequences. Copyright © 2018 Elsevier Inc. All rights reserved.

Epilepsy in School-Aged Children: More than Just Seizures?

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Reilly, Colin; Ballantine, Rebecca

2011-01-01

Epilepsy is the most common neurological disorder in childhood and can have a significant impact on a child's schooling. Children with epilepsy may have special educational needs due to having learning disability, specific learning difficulties, specific cognitive deficits or having symptoms associated with ASD, ADHD, depression or anxiety. These…

Cognitive decline in temporal lobe epilepsy due to unilateral hippocampal sclerosis.

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Marques, Carolina Mattos; Caboclo, Luís Otávio Sales Ferreira; da Silva, Tatiana Indelicato; Noffs, Maria Helena da Silva; Carrete, Henrique; Lin, Katia; Lin, Jaime; Sakamoto, Américo Ceiki; Yacubian, Elza Márcia Targas

2007-05-01

We assessed the cognitive performance of patients with temporal lobe epilepsy (TLE) caused by unilateral hippocampal sclerosis (HS), in comparison with that of matched, healthy controls. We report the relationship between cognitive measures and duration of epilepsy, correlating with hippocampal volumes, and the impact of educational level on cognitive decline. This study involved 61 outpatients (40 with 8 years of formal education) with unilateral HS and 61 controls. Volumetric MRI was performed on all patients and 10 controls. The results (mean, SD) of the neuropsychological tests of healthy subjects and patients were compared using the Student t and Mann-Whitney tests. Patients performed worse than controls in the neuropsychological evaluation. When adjusted z scores were used to calculate the impairment index, patients had a greater percentage of abnormal tests compared with controls. The cognitive decline, assessed through the impairment index, correlated with duration of epilepsy. Higher level of education did not protect against this decline, thus not supporting the hypothesis of cerebral reserve in this population. A significant correlation between hippocampal volumetric measures and duration of epilepsy was observed only in patients with left HS. Patients with TLE caused by HS present with cognitive morbidity that extends beyond memory deficits. Cognitive decline is associated with duration of epilepsy, and in patients with left-sided HS, duration may correlate with volumetric hippocampal loss.

Wordless intervention for epilepsy in learning disabilities (WIELD): study protocol for a randomized controlled feasibility trial.

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Durand, Marie-Anne; Gates, Bob; Parkes, Georgina; Zia, Asif; Friedli, Karin; Barton, Garry; Ring, Howard; Oostendorp, Linda; Wellsted, David

2014-11-20

Epilepsy is the most common neurological problem that affects people with learning disabilities. The high seizure frequency, resistance to treatments, associated skills deficit and co-morbidities make the management of epilepsy particularly challenging for people with learning disabilities. The Books Beyond Words booklet for epilepsy uses images to help people with learning disabilities manage their condition and improve quality of life. Our aim is to conduct a randomized controlled feasibility trial exploring key methodological, design and acceptability issues, in order to subsequently undertake a large-scale randomized controlled trial of the Books Beyond Words booklet for epilepsy. We will use a two-arm, single-centre randomized controlled feasibility design, over a 20-month period, across five epilepsy clinics in Hertfordshire, United Kingdom. We will recruit 40 eligible adults with learning disabilities and a confirmed diagnosis of epilepsy and will randomize them to use either the Books Beyond Words booklet plus usual care (intervention group) or to receive routine information and services (control group). We will collect quantitative data about the number of eligible participants, number of recruited participants, demographic data, discontinuation rates, variability of the primary outcome measure (quality of life: Epilepsy and Learning Disabilities Quality of Life scale), seizure severity, seizure control, intervention's patterns of use, use of other epilepsy-related information, resource use and the EQ-5D-5L health questionnaire. We will also gather qualitative data about the feasibility and acceptability of the study procedures and the Books Beyond Words booklet. Ethical approval for this study was granted on 28 April 2014, by the Wales Research Ethics Committee 5. Recruitment began on 1 July 2014. The outcomes of this feasibility study will be used to inform the design and methodology of a definitive study, adequately powered to determine the impact of

Speech, Language, and Cognition in Preschool Children with Epilepsy

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Selassie, G. Rejno-Habte; Viggedal, G.; Olsson, I.; Jennische, M.

2008-01-01

We studied expressive and receptive language, oral motor ability, attention, memory, and intelligence in 20 6-year-old children with epilepsy (14 females, six males; mean age 6y 5mo, range 6y-6y 11mo) without learning disability, cerebral palsy (CP), and/or autism, and in 30 reference children without epilepsy (18 females, 12 males; mean age 6y…

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.

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Klein, Karl Martin; Pendziwiat, Manuela; Eilam, Anda; Gilad, Ronit; Blatt, Ilan; Rosenow, Felix; Kanaan, Moien; Helbig, Ingo; Afawi, Zaid

2017-07-01

Mutations or structural genomic alterations of the X-chromosomal gene ARHGEF9 have been described in male and female patients with intellectual disability. Hyperekplexia and epilepsy were observed to a variable degree, but incompletely described. Here, we expand the phenotypic spectrum of ARHGEF9 by describing a large Ethiopian-Jewish family with epilepsy and intellectual disability. The four affected male siblings, their unaffected parents and two unaffected female siblings were recruited and phenotyped. Parametric linkage analysis was performed using SNP microarrays. Variants from exome sequencing in two affected individuals were confirmed by Sanger sequencing. All affected male siblings had febrile seizures from age 2-3 years and intellectual disability. Three developed afebrile seizures between age 7-17 years. Three showed focal seizure semiology. None had hyperekplexia. A novel ARHGEF9 variant (c.967G>A, p.G323R, NM_015185.2) was hemizygous in all affected male siblings and heterozygous in the mother. This family reveals that the phenotypic spectrum of ARHGEF9 is broader than commonly assumed and includes febrile seizures and focal epilepsy with intellectual disability in the absence of hyperekplexia or other clinically distinguishing features. Our findings suggest that pathogenic variants in ARHGEF9 may be more common than previously assumed in patients with intellectual disability and mild epilepsy.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Science.gov (United States)

de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G F; Piard, Juliette; Minassian, Berge A; Nezarati, Marjan M; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van 't Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H; Koeleman, Bobby P C

2016-12-01

Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible. All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles. Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

The Relationship between Sleep and Epilepsy: The Effect on Cognitive Functioning in Children

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Parisi, Pasquale; Bruni, Oliviero; Pia Villa, Maria; Verrotti, Alberto; Miano, Silvia; Luchetti, Anna; Curatolo, Paolo

2010-01-01

Aim: The purpose of this review was to examine the possible pathophysiological links between epilepsy, cognition, sleep macro- and microstructure, and sleep disorders to highlight the contributions and interactions of sleep and epilepsy on cognitive functioning in children with epilepsy. Method: PubMed was used as the medical database source. No…

THE FORMATION OF COGNITIVE AND MENTAL DISORDERS IN EPILEPSY: THE ROLE OF VARIOUS FACTORS ASSOCIATED WITH DISEASE AND TREATMENT (A REVIEW OF LITERATURE AND CASE REPORTS

Directory of Open Access Journals (Sweden)

K. Yu. Mukhin

2017-01-01

Full Text Available Cognitive and mental disorders often occur in patients with epilepsy and significantly reduce the quality of life of patients and their families. Approximately in 35 % of patients, despite treatment, various violations of intelligence, behavior, affective sphere of different degree of seve rity are preserved. In general, mental (affective, anxious and psychotic disorders occur in epilepsy 2–3 times more often than in the general population. The most common is depression: the occurrence of depression and anxiety in epilepsy varies from 20 to 55 % (and more than 50 % of patients with refractory focal epilepsy, especially epilepsy of the temporal lobe of the brain. Children are a particularly vulnerable category of patients: in addition to persistent intellectual disabilities (mental retardation, they may have specific impairments in the form of mental and speech development delay, learning difficulties, attention deficit hyperactivity disorder.Causes of cognitive and mental disorders in epilepsy can directly be the factor underlying epilepsy (genetic disease, structural brain defect, etc., epileptic seizures, interictal epileptiform activity, side effects of antiepileptic drugs (AED. In many cases, a patient with epilepsy combines several of these causes, and it is often difficult to determine which one cause is leading. The contribution of specific factors is difficult to estimate, because different factors can have an independent different effect on cognitive impairment. Some of causes underlying cognitive and mental disorders in epilepsy can be influenced and thus reduce the existing risk. Such measures include early diagnosis and effective adequate treatment of epileptic encephalopathy, as early as possible control of seizures, justified appointment of AED in children with cognitive impairment of unknown etiology and frequent epileptiform discharges on the electroencephalogram, careful monitoring of cognitive side effects of AED and

Copy number variations in Saudi family with intellectual disability and epilepsy.

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Naseer, Muhammad I; Chaudhary, Adeel G; Rasool, Mahmood; Kalamegam, Gauthaman; Ashgan, Fai T; Assidi, Mourad; Ahmed, Farid; Ansari, Shakeel A; Zaidi, Syed Kashif; Jan, Mohammed M; Al-Qahtani, Mohammad H

2016-10-17

Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis. Our results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics 3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2, GSTTP2, DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21 (4303127-4337759) and the potential gene in this region is CSMD1 (OMIM: 612279). Moreover, the array CGH results deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs using simple PCR and also by using quantitative real time PCR. We found some of the de novo deletions and duplication in our study in Saudi family with intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing epileptic disorder, may help to improve the clinical

Cognitive Dysfunctions in Epileptic Syndromes

Directory of Open Access Journals (Sweden)

Semih Ayta

2014-05-01

Full Text Available Some children with epilepsy display a low level of intelligence, learning disabilities, attention deficit hyperactivity disorder, mood disorders and anxiety. Besides specific learning disabilities like reading, writing, arithmetics, learning problems may involve other major areas of intellectual functions such as speech and language, attention, memory, fine motor coordination. Even in the presence of common pathology that leads to epilepsy and mental dysfunctions, seizures cause additional cognitive problems. Age at seizure onset, type of seizures and epileptic syndromes are some variables that determine the effect of epilepsy on cognition. As recurrent seizures may have some negative impact on the developing brain, the use of antiepileptic drugs should be considered not only to aim reducing seizures but also to prevent possible seizure-induced cortical dysfunctions. Epilepsy is a disorder requiring a complicated psychological adjustment for the patients and indeed is a disease that affects the whole family. Thus, the management of epilepsy must include educational, psychotherapeutic and behavioral interventions as well as drug treatment.

Cognitive rehabilitation in epilepsy: An evidence-based review.

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Farina, Elisabetta; Raglio, Alfredo; Giovagnoli, Anna Rita

2015-01-01

To review the modalities of cognitive rehabilitation (CR), outcome endpoints, and the levels of evidence of efficacy of different interventions. A systematic research in Pubmed, Psychinfo, and SCOPUS was performed assessing the articles written in the entire period covered by these databases till December 2013. Articles in English, Spanish or French were evaluated. A manual research evaluated the references of all of the articles. The experimental studies were classified according to the level of evidence of efficacy, using a standardized Italian method (SPREAD, 2007), adopting the criteria reported by Cicerone et al. (2000, 2011). Eighteen papers were classified into two reviews, four papers dealing with the principles and efficacy of CR in epilepsy, a methodological paper, a single-case report, a multiple-case report, and nine experimental papers. Most studies involved patients with temporal lobe epilepsy. Different types of CR were used to treat patients with epilepsy. A holistic rehabilitation approach was more useful than selective interventions to treat memory and attention disturbances. CR may be a useful tool to treat cognitive impairment in patients with epilepsy. However, the modalities of treatment and outcome endpoints are important concerns of clinical care and research. Controlled studies are needed to determine the efficacy of rehabilitation in well-defined groups of patients with epilepsy. Copyright © 2014 Elsevier B.V. All rights reserved.

Emotion recognition and social cognition in temporal lobe epilepsy and the effect of epilepsy surgery.

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Amlerova, Jana; Cavanna, Andrea E; Bradac, Ondrej; Javurkova, Alena; Raudenska, Jaroslava; Marusic, Petr

2014-07-01

The abilities to identify facial expression from another person's face and to attribute mental states to others refer to preserved function of the temporal lobes. In the present study, we set out to evaluate emotion recognition and social cognition in presurgical and postsurgical patients with unilateral refractory temporal lobe epilepsy (TLE). The aim of our study was to investigate the effects of TLE surgery and to identify the main risk factors for impairment in these functions. We recruited 30 patients with TLE for longitudinal data analysis (14 with right-sided and 16 with left-sided TLE) and 74 patients for cross-sectional data analysis (37 with right-sided and 37 with left-sided TLE) plus 20 healthy controls. Besides standard neuropsychological assessment, we administered an analog of the Ekman and Friesen test and the Faux Pas Test to assess emotion recognition and social cognition, respectively. Both emotion recognition and social cognition were impaired in the group of patients with TLE, irrespective of the focus side, compared with healthy controls. The performance in both tests was strongly dependent on the intelligence level. Beyond intelligence level, earlier age at epilepsy onset, longer disease duration, and history of early childhood brain injury predicted social cognition problems in patients with TLE. Epilepsy surgery within the temporal lobe seems to have neutral effect on patients' performances in both domains. However, there are a few individual patients who appear to be at risk of postoperative decline, even when seizure freedom is achieved following epilepsy surgery. Copyright © 2014 Elsevier Inc. All rights reserved.

Burden of epilepsy in rural Kenya measured in disability-adjusted life years

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Ibinda, Fredrick; Wagner, Ryan G; Bertram, Melanie Y; Ngugi, Anthony K; Bauni, Evasius; Vos, Theo; Sander, Josemir W; Newton, Charles R

2014-01-01

Objectives The burden of epilepsy, in terms of both morbidity and mortality, is likely to vary depending on the etiology (primary [genetic/unknown] vs. secondary [structural/metabolic]) and with the use of antiepileptic drugs (AEDs). We estimated the disability-adjusted life years (DALYs) and modeled the remission rates of active convulsive epilepsy (ACE) using epidemiologic data collected over the last decade in rural Kilifi, Kenya. Methods We used measures of prevalence, incidence, and mortality to model the remission of epilepsy using disease-modeling software (DisMod II). DALYs were calculated as the sum of Years Lost to Disability (YLD) and Years of Life Lost (YLL) due to premature death using the prevalence approach, with disability weights (DWs) from the 2010 Global Burden of Disease (GBD) study. DALYs were calculated with R statistical software with the associated uncertainty intervals (UIs) computed by bootstrapping. Results A total of 1,005 (95% UI 797–1,213) DALYs were lost to ACE, which is 433 (95% UI 393–469) DALYs lost per 100,000 people. Twenty-six percent (113/100,000/year, 95% UI 106–117) of the DALYs were due to YLD and 74% (320/100,000/year, 95% UI 248–416) to YLL. Primary epilepsy accounted for fewer DALYs than secondary epilepsy (98 vs. 334 DALYs per 100,000 people). Those taking AEDs contributed fewer DALYs than those not taking AEDs (167 vs. 266 DALYs per 100,000 people). The proportion of people with ACE in remission per year was estimated at 11.0% in males and 12.0% in females, with highest rates in the 0–5 year age group. Significance The DALYs for ACE are high in rural Kenya, but less than the estimates of 2010 GBD study. Three-fourths of DALYs resulted from secondary epilepsy. Use of AEDs was associated with 40% reduction of DALYs. Improving adherence to AEDs may reduce the burden of epilepsy in this area. PMID:25131901

A systematic review of neuropsychiatric comorbidities in patients with both epilepsy and intellectual disability

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van Ool, Jans S.; Snoeijen-Schouwenaars, Francesca M.; Schelhaas, Helenius J.; Tan, In Y.; Aldenkamp, Albert P.; Hendriksen, Jos G.M.

2016-01-01

Epilepsy is a neurological condition that is particularly common in people with intellectual disability (ID). The care for people with both epilepsy and ID is often complicated by the presence of neuropsychiatric disorders, defined as psychiatric symptoms, psychiatric disorders, and behavioral

Pediatric epilepsy and comorbid reading disorders, math disorders, or autism spectrum disorders: Impact of epilepsy on cognitive patterns

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van Iterson, L.; de Jong, P.F.; Zijlstra, B.J.H.

2015-01-01

Introduction: In pediatric epilepsy, comorbidities are reported to be frequent. The present study focusedon the cognitive patterns of children with isolated epilepsy, children with isolated neurodevelopmental disorders (reading disorders, math disorders, autism spectrum disorders), and children with

Cognitive Function and Heat Shock Protein 70 in Children With Temporal Lobe Epilepsy.

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Oraby, Azza M; Raouf, Ehab R Abdol; El-Saied, Mostafa M; Abou-Khadra, Maha K; Helal, Suzette I; Hashish, Adel F

2017-01-01

We conducted the present study to examine cognitive function and serum heat shock protein 70 levels among children with temporal lobe epilepsy. The Stanford-Binet Intelligence Test was carried out to examine cognitive function in 30 children with temporal lobe epilepsy and 30 controls. Serum heat shock protein 70 levels were determined with an enzyme-linked immunosorbent assay. The epilepsy group had significantly lower cognitive function testing scores and significantly higher serum heat shock protein 70 levels than the control group; there were significant negative correlations between serum heat shock protein 70 levels and short-term memory and composite scores. Children with uncontrolled seizures had significantly lower verbal reasoning scores and significantly higher serum heat shock protein 70 levels than children with controlled seizures. Children with temporal lobe epilepsy have cognitive dysfunction and elevated levels of serum heat shock protein 70, which may be considered a stress biomarker.

Methylphenidate, cognition, and epilepsy: A 1-month open-label trial.

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Adams, Jesse; Alipio-Jocson, Valerie; Inoyama, Katherine; Bartlett, Victoria; Sandhu, Saira; Oso, Jemima; Barry, John J; Loring, David W; Meador, Kimford J

2017-12-01

Cognitive difficulties are common in epilepsy. Beyond reducing seizures and adjusting antiepileptic medications, no well-validated treatment exists in adults. Methylphenidate is used effectively in children with epilepsy and attention-deficit/hyperactivity disorder, but its effects in adults have not been systematically evaluated. We hypothesized that methylphenidate can safely improve cognition in adults with epilepsy. We detail here the open-label follow-up to a double-blind, placebo-controlled, single-dose study. Thirty epilepsy patients entered a 1-month open-label methylphenidate trial after a double-blind phase. Doses were titrated according to clinical practice and patient tolerance, ranging 20-40 mg/day. Primary measures included: Conners' Continuous Performance Test (CPT), Symbol-Digit Modalities Test (SDMT), and Medical College of Georgia Memory Test (MCG). Secondary measures were: Beck Depression Inventory, 2nd Edition (BDI-II), Beck Anxiety Inventory, Apathy Evaluation Scale (AES), Stimulant Side-Effect Checklist, Adverse Events Profile, Quality of Life in Epilepsy-89 (QOLIE-89), and seizure frequency. Fourteen healthy, nonmedicated controls were tested concurrently. Twenty-eight participants with epilepsy (13 men/15 women) completed the trial. Withdrawals occurred due to anxiety (n = 1) and fatigue (n = 1). Mean age was 36.4 years (range = 20-60). Epilepsy types were: focal (n = 21), generalized (n = 6), or unclassified (n = 1). Mean epilepsy duration was 12.3 years. Mean baseline seizure frequency was 2.8/month. There were significant improvements on methylphenidate for SDMT, MCG, CPT (the ability to discriminate between targets and nontargets [d'] hits, hit reaction time standard deviation, omissions, and commissions), and QOLIE subscales (energy/fatigue, attention/concentration, memory, and language; paired t tests; p ≤ 0.002). BDI-II and additional subscales also improved, at a lower level of statistical significance. Effect

Copy number variations in Saudi family with intellectual disability and epilepsy

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Muhammad I. Naseer

2016-10-01

Full Text Available Abstract Background Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. Results In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID, and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis. Our results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics 3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2, GSTTP2, DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21 (4303127–4337759 and the potential gene in this region is CSMD1 (OMIM: 612279. Moreover, the array CGH results deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs using simple PCR and also by using quantitative real time PCR. Conclusions We found some of the de novo deletions and duplication in our study in Saudi family with intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing

Social cognition dysfunctions in patients with epilepsy: Evidence from patients with temporal lobe and idiopathic generalized epilepsies.

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Realmuto, Sabrina; Zummo, Leila; Cerami, Chiara; Agrò, Luigi; Dodich, Alessandra; Canessa, Nicola; Zizzo, Andrea; Fierro, Brigida; Daniele, Ornella

2015-06-01

Despite an extensive literature on cognitive impairments in focal and generalized epilepsy, only a few number of studies specifically explored social cognition disorders in epilepsy syndromes. The aim of our study was to investigate social cognition abilities in patients with temporal lobe epilepsy (TLE) and in patients with idiopathic generalized epilepsy (IGE). Thirty-nine patients (21 patients with TLE and 18 patients with IGE) and 21 matched healthy controls (HCs) were recruited. All subjects underwent a basic neuropsychological battery plus two experimental tasks evaluating emotion recognition from facial expression (Ekman-60-Faces test, Ek-60F) and mental state attribution (Story-based Empathy Task, SET). In particular, the latter is a newly developed task that assesses the ability to infer others' intentions (i.e., intention attribution - IA) and emotions (i.e., emotion attribution - EA) compared with a control condition of physical causality (i.e., causal inferences - CI). Compared with HCs, patients with TLE showed significantly lower performances on both social cognition tasks. In particular, all SET subconditions as well as the recognition of negative emotions were significantly impaired in patients with TLE vs. HCs. On the contrary, patients with IGE showed impairments on anger recognition only without any deficit at the SET task. Emotion recognition deficits occur in patients with epilepsy, possibly because of a global disruption of a pathway involving frontal, temporal, and limbic regions. Impairments of mental state attribution specifically characterize the neuropsychological profile of patients with TLE in the context of the in-depth temporal dysfunction typical of such patients. Impairments of socioemotional processing have to be considered as part of the neuropsychological assessment in both TLE and IGE in view of a correct management and for future therapeutic interventions. Copyright © 2015 Elsevier Inc. All rights reserved.

Epilepsy in the School Aged Child: Cognitive-Behavioral Characteristics and Effects on Academic Performance.

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Black, Kathryn C.; Hynd, George W.

1995-01-01

Children with epilepsy frequently display cognitive sequelae that are overlooked or misunderstood by educational personnel, yet may adversely impact academic performance. Reviews common cognitive-behavioral characteristics of children with epilepsy, typical effects of anticonvulsant medications, and various periictal phenomena and their relative…

Cognitive and psychosocial effects of oxcarbazepine monotherapy in newly diagnosed partial epilepsy.

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Kim, Daeyoung; Seo, Ji-Hye; Joo, Eun Yeon; Lee, Hyang Woon; Shin, Won Chul; Hong, Seung Bong

2014-01-01

The aim of this study was to assess the effects of oxcarbazepine (OXC) on cognition and psychosocial difficulties in patients with new-onset partial epilepsy. Cognitive and psychosocial assessments were performed before and after 6 to 12 months of OXC monotherapy in 52 drug-naive patients (25 women; mean age, 31.1 years; SD, 12.1 years). Cognitive functions were evaluated with well-structured and validated tools. Mood, psychological distress, subjective handicap, and quality of life were also evaluated. Differences between baseline and after-treatment evaluation were compared and adjusted for possible confounders such as age, sex, seizure control, duration of epilepsy, assessment interval, and epileptogenic region. Mean assessment interval was 231.8 (range, 182-348) days, and mean (SD) OXC dose at retest was 693.8 (208.9) mg. The OXC was found to have no significant adverse effect on cognition. Furthermore, OXC monotherapy was not found to affect psychosocial difficulties, including psychological distress and subjective handicap. The results suggest that OXC monotherapy could be used to treat newly diagnosed partial epilepsy without adversely affecting cognitive and psychosocial functions.

Pediatric frontal lobe epilepsy : white matter abnormalities and cognitive impairment

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Braakman, H.M.H.; Vaessen, M.J.; Jansen, J.F.A.; Debeij-van Hall, M.H.J.A.; Louw, de A.; Hofman, P.A.M.; Vles, J.S.H.; Aldenkamp, A.P.; Backes, W.H.

2014-01-01

Objectives: Cognitive impairment is frequent in children with frontal lobe epilepsy (FLE). Its etiology remains unknown. With diffusion tensor imaging, we have studied cerebral white matter properties and associations with cognitive functioning in children with FLE and healthy controls.

Academic Performance in Children with Rolandic Epilepsy

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Piccinelli, P.; Borgatti, R.; Aldini, A.; Bindelli, D.; Ferri, M.; Perna, S.; Pitillo, G.; Termine, C.; Zambonin, F.; Balottin, U.

2008-01-01

The aim of this study was to investigate the frequency of reading, writing, and calculation disabilities in children with typical rolandic epilepsy (RE) and healthy control children. We also aimed to define the possible electroclinical markers of specific cognitive dysfunctions in RE. School abilities were evaluated and compared in 20 children…

Cognitive changes in people with temporal lobe epilepsy over a 13-year period.

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Mameniškienė, Rūta; Rimšienė, Justė; Puronaitė, Roma

2016-10-01

The aims of our study were to evaluate cognitive decline in people with temporal lobe epilepsy over a period of 13years and to determine what clinical and treatment characteristics may have been associated with these. Thirty-three individuals with temporal lobe epilepsy underwent the same neuropsychological assessment of verbal and nonverbal memory, attention, and executive functions using the same cognitive test battery as one used 13years ago. Long-term verbal and nonverbal memory was tested four weeks later. Results were compared with those carried out 13years earlier. There was no significant change in verbal and verbal-logical memory tests; however, nonverbal memory worsened significantly. Long-term verbal memory declined for 21.9% of participants, long-term verbal-logical memory for 34.4%, and long-term nonverbal memory for 56.3%. Worsening of working verbal and verbal-logical memory was associated with longer epilepsy duration and lower levels of patients' education; worsening of verbal delayed recall and long-term verbal-logical memory was associated with higher seizure frequency. Decline in long-term nonverbal memory had significant association with a longer duration of epilepsy. The worsening of reaction and attention inversely correlated with the symptoms of depression. Over a 13-year period, cognitive functions did not change significantly. Good seizure control and reduced symptoms of depression in this sample of people with temporal lobe epilepsy were associated with better cognitive functioning. The predictors of change of cognitive functions could be complex and require further study. Copyright © 2016 Elsevier Inc. All rights reserved.

Neurocognitive and neurobehavioral disabilities in Epilepsy with Electrical Status Epilepticus in slow sleep (ESES) and related syndromes.

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Raha, Sarbani; Shah, Urvashi; Udani, Vrajesh

2012-11-01

The aims of this study were to assess the cognitive and behavioral problems of patients with Epilepsy with Electrical Status Epilepticus in slow sleep (ESES) and related syndromes and to review their EEG (electroencephalography) findings and treatment options. Fourteen patients with ESES were evaluated and treated in 2010. Nine children had continuous spike and wave during slow-wave sleep (CSWS)/ESES syndrome, 3 had Atypical BECTS (benign epilepsy with centrotemporal spikes), 1 had Opercular syndrome, and 1 had Landau-Kleffner syndrome. The duration of ESES ranged from 6 to 52 months. Eleven (91%) children had behavioral issues, most prominent being hyperactivity. Seven of the 13 children (53%) showed evidence of borderline to moderate cognitive impairment. A total of 28 EEG findings of ESES were analyzed for SWI (spike-wave index). Antiepileptic drugs received by the patients included valproate, clobazam, levetiracetam, and others. Eleven patients had been treated with oral steroids and it was found to be efficacious in seven (63%). Disabilities caused by ESES affect multiple domains. Patients with an SWI>50% should be followed up frequently with neuropsychological assessments. Steroids appear to be effective, although there is a need to standardize the dose and duration of treatment. Copyright © 2012 Elsevier Inc. All rights reserved.

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

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Borlot, Felippe; Regan, Brigid M; Bassett, Anne S; Stavropoulos, D James; Andrade, Danielle M

2017-11-01

Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014. The inclusion criteria were (1) pediatric seizure onset with ongoing seizure activity in adulthood, (2) intellectual disability of any degree, and (3) no structural brain abnormalities or metabolic conditions that could explain the seizures. DNA screening was performed using genome-wide microarray platforms. Pathogenicity of CNVs was assessed based on the American College of Medical Genetics guidelines. The Residual Variation Intolerance Score was used to evaluate genes within the identified CNVs that could play a role in each patient's phenotype. Of the 2335 patients, 143 probands were investigated (mean [SD] age, 24.6 [10.8] years; 69 male and 74 female). Twenty-three probands (16.1%) and 4 affected relatives (2.8%) (mean [SD] age, 24.1 [6.1] years; 11 male and 16 female) presented with pathogenic or likely pathogenic CNVs (0.08-18.9 Mb). Five of the 23 probands with positive results (21.7%) had more than 1 CNV reported. Parental testing revealed de novo CNVs in 11 (47.8%), with CNVs inherited from a parent in 4 probands (17.4%). Sixteen of 23 probands (69.6%) presented with previously cataloged human genetic disorders and/or defined CNV hot spots in epilepsy. Eight nonrecurrent rare CNVs that overlapped 1 or more genes associated with intellectual disability, autism, and/or epilepsy were identified: 2p16.1-p15 duplication, 6p25.3-p25.1 duplication, 8p23.3p

Presence of Cognitive Deterioration and Anatomical-Clinical Topography in Patients with Epilepsy in Cienfuegos

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Rolando Lázaro Rivera López

2015-02-01

Full Text Available Background: epilepsy is a pathological condition characterized by a recurrent non-provoked crisis, however, the presence of the crisis is a fraction of the global problem, patients with epilepsy develop a variety of neuropsychiatry problems, as cognitive affection, most of all, in the space of memory. Objective: evaluating the behavior of the cognitive deterioration and focalization according to anatomical- clinical topography in patients with epilepsy. Methods: a descriptive, correlational, cross-section and follow-up study of cases. The techniques used were: structured interview, the Montreal Cognitive Assessment's evaluation, and Luria´s neuropsychological exam. It was used SPDD statical parcel, version 1.5 to process the information that made possible the study of the obtained data, with the aim of expressing the results in chart of frequency and relation of variables in number and percent. Results: the 71.4 % of evaluated patients presented cognitive deterioration in any of its of measurement scales and they focalized according to neuropsychological exam. Conclusions: as the time of evolution of the disease increases, the frequency and duration of the crises, the grade of the cognitive deterioration in patients with epilepsy increases, focalizing with dysfunction majority fronto-temporary level according to anatomical-clinical topography.

Cognitive impairments in patients with intractable temporal lobe epilepsy

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Mahgol Tavakoli

2011-01-01

Conclusions: These findings indicated that WMS-III and WAIS-R can differentiate patients with refractory temporal lobe epilepsy from normal subjects. However, the obtained cognitive profile could not differentiate between the right and the left TLE.

Social-cognitive predictors of vocational outcomes in transition youth with epilepsy: Application of social cognitive career theory.

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Sung, Connie; Connor, Annemarie

2017-08-01

This study examined the utility of social-cognitive career theory (SCCT; Lent, Brown, & Hackett, 1994) as a framework to investigate career self-efficacy, outcome expectations, goals, and contextual supports and barriers as predictors of choice actions among transition-age individuals with epilepsy. Moreover, these SCCT constructs are offered as an operational definition of work participation in this population. Using a quantitative descriptive research design and hierarchical regression analysis (HRA), 90 transition-age individuals with epilepsy, age 18-25, were recruited from affiliates of the Epilepsy Foundation and invited to complete an online survey comprised of a series of self-report social-cognitive measures. The HRA findings indicated that self-efficacy, outcome expectations, and environmental supports were significant predictors of work participation in youth and young adults with epilepsy. The final model accounted for 58% of the variance in work participation, which is considered a large effect size. The research findings provide support for the use of the SCCT framework to identify predictors of work participation and to provide guidance for designing customized vocational rehabilitation services and career development interventions for individuals with epilepsy in the transition from adolescence to adulthood. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

'What really annoys me is people take it like it's a disability', epilepsy, disability and identity among people of Pakistani origin living in the UK.

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Rhodes, Penny J; Small, Neil A; Ismail, Hanif; Wright, John P

2008-01-01

This paper reports on a study of Pakistani people with epilepsy. It explores their attitudes towards their condition, others' attitudes, its impact on their lives, and the extent to which they considered themselves as disabled. Epilepsy was variously interpreted within biomedical, folk and religious paradigms. In line with popular understandings, participants associated disability with stable, permanent and visible physical impairments and did not consider themselves as disabled. However, they also recognised a social dimension to their experience. Much of the distress and disadvantage they experienced was socially determined, both through direct prejudice and discrimination, and indirectly through a fear of others' negative reactions. However, the invisible and unpredictable nature of epilepsy meant that they could conceal their condition and thereby mitigate its social effects. 'Disability' was not experienced as a static and permanent state but as a potential identity that was both contingent and contested. The literature portrays people moving from biomedical to social interpretations of disability. However, the tensions experienced by people in the study were more between competing religious interpretations of their condition and, to some extent, between religious and medical approaches. Conceptions of disability, which are presented in the literature as antagonistic and mutually exclusive, were experienced as different dimensions reflecting the complexity of experience. The paper concludes by suggesting that for many people, for whom disability is an ambiguous, contingent and contested identity, public self-identification as disabled is an unrealistic goal. Rather than conceiving of disability as primarily physical or primarily social, it would be better construed as a complex interweaving of multiple factors--physical, environmental, socio-cultural and psychological factors.

Epidemiology of Epilepsy in Older Adults with an Intellectual Disability in Ireland: Associations and Service Implications

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McCarron, Mary; O'Dwyer, Marie; Burke, Eilish; McGlinchey, Eimear; McCallion, Philip

2014-01-01

There are limited studies on the prevalence of epilepsy and co-morbid conditions in older adults with an ID. To begin to address this prevalence of epilepsy was estimated for participants in the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing. Associations with demographic variables and co morbid health conditions were…

Caring for a family member with intellectual disability and epilepsy: practical, social and emotional perspectives.

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Thompson, Rose; Kerr, Mike; Glynn, Mike; Linehan, Christine

2014-11-01

To examine the caregiving impact of those who support a family member with intellectual disability and epilepsy. An online, qualitative international survey was conducted via the auspices of the International Bureau of Epilepsy with various stakeholders who support individuals who have intellectual disability and epilepsy. Qualitative comments were analyzed from respondents who identified themselves as family members (n=48; 36%) who referred specifically to the impact of supporting a family member with these combined disabilities. Four main domains, which were comprised of ten themes, were derived from the qualitative data using Braun and Clarke's qualitative framework. These domains comprised (1) practical concerns, (2) disrupted family dynamics, (3) emotional burden and (4) positive experiences. In combination these themes illustrate the pervasive impact on family life for those supporting an individual with complex needs. Financial concerns, coordination and responsibility of care, diverted attention from other family members and social isolation all contributed a significant burden of care for family members. Positive aspects were, however, also cited including the closeness of the family unit and a fostering of altruistic behavior. The study provides an insight into an under-researched area. The burden of caring for a family member across the lifespan has a largely negative and pervasive impact. Targeted service provision could contribute to an amelioration of the challenges faced by these families. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Managing epilepsy well: self-management needs assessment.

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Fraser, Robert T; Johnson, Erica K; Miller, John W; Temkin, Nancy; Barber, Jason; Caylor, Lisa; Ciechanowski, Paul; Chaytor, Naomi

2011-02-01

Epilepsy self-management interventions have been investigated with respect to health care needs, medical adherence, depression, anxiety, employment, and sleep problems. Studies have been limited in terms of representative samples and inconsistent or restricted findings. The direct needs assessment of patients with epilepsy as a basis for program design has not been well used as an approach to improving program participation and outcomes. This study investigated the perceived medical and psychosocial problems of adults with epilepsy, as well as their preferences for self-management program design and delivery format. Results indicated a more psychosocially challenged subgroup of individuals with significant depressive and cognitive complaints. A self-management program that involves face-to-face individual or group meetings led by an epilepsy professional and trained peer leader for 60 minutes weekly was preferred. Six to eight sessions focused on diverse education sessions (e.g., managing disability and medical care, socializing on a budget, and leading a healthy lifestyle) and emotional coping strategies delivered on weeknights or Saturday afternoons were most highly endorsed. Emotional self-management and cognitive compensatory strategies require special emphasis given the challenges of a large subgroup. Copyright © 2010 Elsevier Inc. All rights reserved.

Agmatine for combined treatment of epilepsy, depression and cognitive impairment in chronic epileptic animals.

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Singh, Tanveer; Bagga, Neetu; Kaur, Anureet; Kaur, Navjot; Gawande, Dinesh Yugraj; Goel, Rajesh Kumar

2017-08-01

Epilepsy is fourth most common neurological disorders associated with depression and cognitive deficits. As per present scenario, none of the antiseizure drugs have been reported successful to have ameliorative effect on epilepsy associated depression and cognitive deficits. Thus, the study was envisioned to assess an ameliorative potential of agmatine on epilepsy and its efficacy and safety for management of associated depression and cognitive deficits. The animals were made epileptic employing pentylenetetrazole (35mg/kg i.p. every 48±2h) kindling model of epilepsy and subsequently were treated with vehicle, valproic acid (300mg/kg/day i.p.) and agmatine (2.5, 5, and 10mg/kg)/day/i.p. for 15days. Except naïve, all the groups were challenged with same pentylenetetrazole dose as employed during kindling on days 5, 10, and 15 to evaluate seizure severity. Two hours after seizure severity test, tail suspension test and passive shock avoidance paradigm was employed to evaluate depression and cognitive behavior respectively. Results suggested that epileptic animals were significantly associated with depression and cognitive impairment. Chronic valproate treatment significantly reduced seizure severity, but was found unable to mitigate depression and cognitive deficits. However, agmatine treatment dose dependently ameliorated seizure severity as well as associated depression and cognitive deficits. On 15th day, animals were euthanized and pertinent neurochemical estimations were carried out in cortical and hippocampal areas of the mice brain. Thus, study concluded that agmatine ameliorated seizure severity, depression and cognitive impairment in epileptic animals, possibly via restoring glutamate-GABA neurotransmission and serotonin synthesis with decreased nitrosative stress. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

COPING SKILLS IN CHILDREN WITH EPILEPSY--EVALUATION OF COGNITIVE BEHAVIORAL THERAPY INTERVENTION.

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Batista, Maja; Mestrović, Antonela; Vekić, Ana Marija; Malenical, Masa; Kukuruzović, Monika; Begovac, Ivan

2015-12-01

A pilot study was conducted to examine the efficiency and satisfaction of cognitive behavioral therapy (CBT) intervention in youth with epilepsy regarding coping strategies. The CBT intervention was based on the main principles and empirically supported cognitive-behavioral techniques. The intervention consists of epilepsy education, stress education, and coping skill strategies. Seventeen children and adolescents aged 9-17 diagnosed with epilepsy for at least one year, with at least average intelligence and no history of serious mental illness completed the CBT intervention during summer camp, providing data on the efficiency of and satisfaction with CBT intervention. Upon completion of the CBT intervention, study subjects achieved significantly higher scores on the following Scale of Coping with Stress subscales: Problem solving; Seeking for social support from friends; Seeking for social support from family; and Cognitive restructuring, for both measures of usage frequency and effectiveness of each subscale. The participants reported a high level of satisfaction with the CBT intervention. This study provided explanation of research limitations and recommendations for future clinical trials.

Cognitive and mood effects of phenobarbital treatment in people with epilepsy in rural China: a prospective study.

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Ding, Ding; Zhang, Qing; Zhou, Dong; Lin, Weihong; Wu, Qingsheng; Sun, Jixin; Zhao, Qianhua; Yu, Peimin; Wang, Wenzhi; Wu, Jianzhong; Bell, Gail S; Kwan, Patrick; de Boer, Hanneke M; Li, Shichuo; Thompson, Pamela J; Hong, Zhen; Sander, Josemir W

2012-12-01

Phenobarbital is an effective treatment for epilepsy but concerns remain over its potential neurocognitive toxicity. This prospective study evaluated the effects of phenobarbital treatment on cognition and mood in people with epilepsy in rural China. We recruited 144 adults with convulsive seizures and 144 healthy controls from six sites in rural China. People with epilepsy were treated with phenobarbital monotherapy for 12 months. At baseline, and at 3, 6 and 12 months, cases and controls were evaluated with a battery of neuropsychological tests: the Mini-Mental State Examination, the Hamilton Depression Rating Scale, a digit span test, a verbal fluency test, an auditory verbal learning test and a digit cancellation test. Efficacy of phenobarbital treatment was evaluated at the end of follow-up for those with epilepsy. Cognitive test scores and mood ratings were available for 136 (94%) people with epilepsy and 137 (95%) controls at the 12 month follow-up. Both groups showed slightly improved performance on a number of neuropsychological measures. The people with epilepsy showed greater performance gains (p=0.012) in verbal fluency. Nine people with epilepsy complained of memory problems during the treatment period. In this study, phenobarbital was not found to have a major negative impact on cognitive function of people with convulsive seizures and some cognitive gains were observed, possibly due to improved seizure control.

Memory Functioning in Children with Epilepsy: Frontal Lobe Epilepsy, Childhood Absence Epilepsy, and Benign Epilepsy with Centrotemporal Spikes

OpenAIRE

Lopes, Ana Filipa; Monteiro, José Paulo; Fonseca, Maria José; Robalo, Conceição; Simões, Mário Rodrigues

2014-01-01

Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE), and benign epilepsy with centrotemporal ...

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

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Verhoeven WMA

2016-05-01

Full Text Available Willem MA Verhoeven,1,2 Jos IM Egger,1,3,4 Alida C Knegt,5 José Zuydam,6 Tjitske Kleefstra7 1Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, 2Department of Psychiatry, Erasmus University Medical Center, Rotterdam, 3Donders Institute for Brain, Cognition and Behaviour, 4Behavioural Science Institute, Radboud University, Nijmegen, 5Department of Clinical Genetics, University of Amsterdam Medical Center, Amsterdam, 6Reigersdaal Institute for Intellectual Disabilities, Heerhugowaard, 7Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands Abstract: Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2 gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unbalanced chromosome aberrations and DECIPHER (database of genomic variation and phenotype in humans using ensembl resources, so far, a total of 13 intellectually disabled patients with a genetically proven deletion of the CHD2 gene are described, of whom eleven had a history of severe forms of epilepsy starting from a young age. In this article, a moderately intellectually disabled 15-year-old male with a 15q26.1–q26.2 interstitial deletion is reported, who was referred for analysis of two recent short-lasting psychotic episodes that were nonresponsive to antipsychotic treatment and recurrent disinhibited behaviors since early infancy. Careful interdisciplinary assessment revealed that the psychotic phenomena originated from a previously unrecognized absence epilepsy. Treatment with valproic acid was started which resulted in full remission of psychotic symptoms, and consequently, substantial improvement of behavior. It was concluded that in case of (rare developmental disorders with genetically proven etiology, a detailed inventory of

Cognition and brain development in children with benign epilepsy with centrotemporal spikes.

Science.gov (United States)

Garcia-Ramos, Camille; Jackson, Daren C; Lin, Jack J; Dabbs, Kevin; Jones, Jana E; Hsu, David A; Stafstrom, Carl E; Zawadzki, Lucy; Seidenberg, Michael; Prabhakaran, Vivek; Hermann, Bruce P

2015-10-01

Benign epilepsy with centrotemporal spikes (BECTS), the most common focal childhood epilepsy, is associated with subtle abnormalities in cognition and possible developmental alterations in brain structure when compared to healthy participants, as indicated by previous cross-sectional studies. To examine the natural history of BECTS, we investigated cognition, cortical thickness, and subcortical volumes in children with new/recent onset BECTS and healthy controls (HC). Participants were 8-15 years of age, including 24 children with new-onset BECTS and 41 age- and gender-matched HC. At baseline and 2 years later, all participants completed a cognitive assessment, and a subset (13 BECTS, 24 HC) underwent T1 volumetric magnetic resonance imaging (MRI) scans focusing on cortical thickness and subcortical volumes. Baseline cognitive abnormalities associated with BECTS (object naming, verbal learning, arithmetic computation, and psychomotor speed/dexterity) persisted over 2 years, with the rate of cognitive development paralleling that of HC. Baseline neuroimaging revealed thinner cortex in BECTS compared to controls in frontal, temporal, and occipital regions. Longitudinally, HC showed widespread cortical thinning in both hemispheres, whereas BECTS participants showed sparse regions of both cortical thinning and thickening. Analyses of subcortical volumes showed larger left and right putamens persisting over 2 years in BECTS compared to HC. Cognitive and structural brain abnormalities associated with BECTS are present at onset and persist (cognition) and/or evolve (brain structure) over time. Atypical maturation of cortical thickness antecedent to BECTS onset results in early identified abnormalities that continue to develop abnormally over time. However, compared to anatomic development, cognition appears more resistant to further change over time. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

Postsurgical outcome in pediatric patients with epilepsy: a comparison of patients with intellectual disabilities, subaverage intelligence, and average-range intelligence.

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Gleissner, Ulrike; Clusmann, Hans; Sassen, Robert; Elger, Christian E; Helmstaedter, Christoph

2006-02-01

Intellectual disabilities are often associated with bilateral or diffuse morphologic brain damage. The chances of becoming seizure free after focal surgery are therefore considered to be worse in patients with intellectual disabilities. The risk of postoperative cognitive deficits could increase because diffuse brain damage lowers the patient's ability to compensate for surgically induced deficits. Several studies in adult patients have indicated that IQ alone is not a good predictor of postoperative cognitive and seizure outcome. Our study evaluated this subject in children and adolescents. Pediatric patients with intellectual disabilities (IQ intelligence (IQ between 71 and 85), or average-range intelligence (IQ > 85) were matched according to several clinical and etiologic criteria to determine the influence of IQ (N = 66). No dependency of seizure outcome, postoperative cognitive development, and behavioral outcome on the IQ level was found. All groups slightly improved in attention while memory functions tended to decrease and executive functions were stable. School placement remained unchanged for the majority of patients. Between 67 and 78% were seizure free 1 year after surgery (Engel outcome class I). IQ alone is not a good predictor of postoperative outcome in pediatric patients with epilepsy. As with patients of average-range intelligence, the decision to operate on patients with a low level of intelligence should depend on the results of the presurgical diagnostics. If the results of the neuropsychological examination indicate diffuse functional impairment, this should not hinder further steps, if all other findings are consistent.

Wordless intervention for people with epilepsy and learning disabilities (WIELD): a randomised controlled feasibility trial

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Mengoni, Silvana E; Gates, Bob; Parkes, Georgina; Wellsted, David; Barton, Garry; Ring, Howard; Khoo, Mary Ellen; Monji-Patel, Deela; Friedli, Karin; Zia, Asif; Irvine, Lisa; Durand, Marie-Anne

2016-01-01

Objective To investigate the feasibility of a full-scale randomised controlled trial of a picture booklet to improve quality of life for people with epilepsy and learning disabilities. Trial design A randomised controlled feasibility trial. Randomisation was not blinded and was conducted using a centralised secure database and a blocked 1:1 allocation ratio. Setting Epilepsy clinics in 1 English National Health Service (NHS) Trust. Participants Patients with learning disabilities and epilepsy who had: a seizure within the past 12 months, meaningful communication and a carer with sufficient proficiency in English. Intervention Participants in the intervention group used a picture booklet with a trained researcher, and a carer present. These participants kept the booklet, and were asked to use it at least twice more over 20 weeks. The control group received treatment as usual, and were provided with a booklet at the end of the study. Outcome measures 7 feasibility criteria were used relating to recruitment, data collection, attrition, potential effect on epilepsy-related quality of life (Epilepsy and Learning Disabilities Quality of Life Scale, ELDQOL) at 4-week, 12-week and 20-week follow-ups, feasibility of methodology, acceptability of the intervention and potential to calculate cost-effectiveness. Outcome The recruitment rate of eligible patients was 34% and the target of 40 participants was reached. There was minimal missing data and attrition. An intention-to-treat analysis was performed; data from the outcome measures suggest a benefit from the intervention on the ELDQOL behaviour and mood subscales at 4 and 20 weeks follow-up. The booklet and study methods were positively received, and no adverse events were reported. There was a positive indication of the potential for a cost-effectiveness analysis. Conclusions All feasibility criteria were fully or partially met, therefore confirming feasibility of a definitive trial. Trial registration number ISRCTN

Psychiatric aspects of pediatric epilepsy: Focus on anxiety disorder

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Sujita Kumar Kar

2015-01-01

Full Text Available Psychiatric co-morbidities are commonly seen with pediatric epilepsy, which can be in the form of cognitive deficits like - inattention and intellectual disability, motor disturbances like - hyperactivity, emotional disturbances like - depression and anxiety disorders and behavioral problems like - impulsivity, aggression and even psychotic behavior. Anxiety disorders like - Obsessive compulsive disorder, posttraumatic stress disorder, social phobia, separation anxiety disorder, agoraphobia and panic attacks are commonly seen with pediatric epilepsy. Presence of co-morbid anxiety disorder in pediatric epilepsy is responsible for scholastic decline, peer maladjustment and poor quality of life. Management of anxiety disorders in children with epilepsy is always a challenge. Until, there is no general consensus regarding management of anxiety disorders in pediatric epilepsy. Despite its enormous impact on an individual′s life, this area has not been addressed adequately through clinical research. This review focuses on psychiatric aspects of pediatric epilepsy with specific emphasis on anxiety disorders.

Limitations of a Short Demographic Questionnaire for Bedside Estimation of Patients’ Global Cognitive Functioning in Epilepsy Patients

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Iris Gorny

2018-03-01

Full Text Available ObjectivesThe German socio-demographic estimation scale was developed by Jahn et al. (1 to quickly predict premorbid global cognitive functioning in patients. So far, it has been validated in healthy adults and has shown a good correlation with the full and verbal IQ of the Wechsler Adult Intelligence Scale (WAIS in this group. However, there are no data regarding its use as a bedside test in epilepsy patients.MethodsForty native German speaking adult patients with refractory epilepsy were included. They completed a neuropsychological assessment, including a nine scale short form of the German version of the WAIS-III and the German socio-demographic estimation scale by Jahn et al. (1 during their presurgical diagnostic stay in our center. We calculated means, correlations, and the rate of concordance (range ±5 and ±7.5 IQ score points between these two measures for the whole group, and a subsample of 19 patients with a global cognitive functioning level within 1 SD of the mean (IQ score range 85–115 and who had completed their formal education before epilepsy onset.ResultsThe German demographic estimation scale by Jahn et al. (1 showed a significant mean overestimation of the global cognitive functioning level of eight points in the epilepsy patient sample compared with the short form WAIS-III score. The accuracy within a range of ±5 or ±7.5 IQ score points for each patient was similar to that of the healthy controls reported by Jahn et al. (1 in our subsample, but not in our whole sample.ConclusionOur results show that the socio-demographic scale by Jahn et al. (1 is not sufficiently reliable as an estimation tool of global cognitive functioning in epilepsy patients. It can be used to estimate global cognitive functioning in a subset of patients with a normal global cognitive functioning level who have completed their formal education before epilepsy onset, but it does not reliably predict global cognitive functioning in epilepsy patients

Issues related to symptomatic and disease-modifying treatments affecting cognitive and neuropsychiatric comorbidities of epilepsy

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Brooks-Kayal, Amy R.; Bath, Kevin G.; Berg, Anne T.; Galanopoulou, Aristea S.; Holmes, Gregory L.; Jensen, Frances E.; Kanner, Andres M.; O’Brien, Terence J.; Whittemore, Vicky H.; Winawer, Melodie R.; Patel, Manisha; Scharfman, Helen E.

2014-01-01

Summary Many symptoms of neurologic or psychiatric illness—such as cognitive impairment, depression, anxiety, attention deficits, and migraine—occur more frequently in people with epilepsy than in the general population. These diverse comorbidities present an underappreciated problem for people with epilepsy and their caregivers because they decrease quality of life, complicate treatment, and increase mortality. In fact, it has been suggested that comorbidities can have a greater effect on quality of life in people with epilepsy than the seizures themselves. There is increasing recognition of the frequency and impact of cognitive and behavioral comorbidities of epilepsy, highlighted in the 2012 Institute of Medicine report on epilepsy. Comorbidities have also been acknowledged, as a National Institutes of Health (NIH) Benchmark area for research in epilepsy. However, relatively little progress has been made in developing new therapies directed specifically at comorbidities. On the other hand, there have been many advances in understanding underlying mechanisms. These advances have made it possible to identify novel targets for therapy and prevention. As part of the International League Against Epilepsy/American Epilepsy Society workshop on preclinical therapy development for epilepsy, our working group considered the current state of understanding related to terminology, models, and strategies for therapy development for the comorbidities of epilepsy. Herein we summarize our findings and suggest ways to accelerate development of new therapies. We also consider important issues to improve research including those related to methodology, nonpharmacologic therapies, biomarkers, and infrastructure. PMID:23909853

The social causes of inequality in epilepsy and developing a rehabilitation strategy: a U.K.-based analysis.

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Ridsdale, Leone

2009-10-01

A rehabilitation approach has been adopted for many long-term neurologic conditions, but not for epilepsy. The disabilities associated with epilepsy are cognitive, psychological, and social, which are not as readily identified by medical doctors as are physical disabilities. A rehabilitation approach moves the emphasis from a medically driven process to a focus on the personal, social, and physical context of long-term illness. It is suggested that a missed opportunity for education and support for self-management occurs after diagnosis. This results in disadvantage to those whose educational level and knowledge of epilepsy are low. People who do not achieve epilepsy control may then experience higher levels of psychological distress, and a negative cycle of loss of self-efficacy, poor epilepsy control, social disadvantage, and disability. Rehabilitation services have benefited communities surrounding centers of excellence. Not so in epilepsy. Despite centers of excellence, areas with deprivation have higher than national average levels of patients reporting a seizure in the prior year, and higher emergency hospital admissions. Specialists working in partnership with general practitioners (GPs) and practice nurses can do more to increase participation and reduce distress for people with epilepsy. When available, GPs and nurses with special interest in epilepsy promote integrated services. Primary-secondary networks are likely to be more effective in preventing downward drift. This requires evaluation.

Establishing reliable cognitive change in children with epilepsy: The procedures and results for a sample with epilepsy

NARCIS (Netherlands)

van Iterson, L.; Augustijn, P.B.; de Jong, P.F.; van der Leij, A.

2013-01-01

The goal of this study was to investigate reliable cognitive change in epilepsy by developing computational procedures to determine reliable change index scores (RCIs) for the Dutch Wechsler Intelligence Scales for Children. First, RCIs were calculated based on stability coefficients from a

Wordless intervention for people with epilepsy and learning disabilities (WIELD): a randomised controlled feasibility trial.

Science.gov (United States)

Mengoni, Silvana E; Gates, Bob; Parkes, Georgina; Wellsted, David; Barton, Garry; Ring, Howard; Khoo, Mary Ellen; Monji-Patel, Deela; Friedli, Karin; Zia, Asif; Irvine, Lisa; Durand, Marie-Anne

2016-11-10

To investigate the feasibility of a full-scale randomised controlled trial of a picture booklet to improve quality of life for people with epilepsy and learning disabilities. A randomised controlled feasibility trial. Randomisation was not blinded and was conducted using a centralised secure database and a blocked 1:1 allocation ratio. Epilepsy clinics in 1 English National Health Service (NHS) Trust. Patients with learning disabilities and epilepsy who had: a seizure within the past 12 months, meaningful communication and a carer with sufficient proficiency in English. Participants in the intervention group used a picture booklet with a trained researcher, and a carer present. These participants kept the booklet, and were asked to use it at least twice more over 20 weeks. The control group received treatment as usual, and were provided with a booklet at the end of the study. 7 feasibility criteria were used relating to recruitment, data collection, attrition, potential effect on epilepsy-related quality of life (Epilepsy and Learning Disabilities Quality of Life Scale, ELDQOL) at 4-week, 12-week and 20-week follow-ups, feasibility of methodology, acceptability of the intervention and potential to calculate cost-effectiveness. The recruitment rate of eligible patients was 34% and the target of 40 participants was reached. There was minimal missing data and attrition. An intention-to-treat analysis was performed; data from the outcome measures suggest a benefit from the intervention on the ELDQOL behaviour and mood subscales at 4 and 20 weeks follow-up. The booklet and study methods were positively received, and no adverse events were reported. There was a positive indication of the potential for a cost-effectiveness analysis. All feasibility criteria were fully or partially met, therefore confirming feasibility of a definitive trial. ISRCTN80067039. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence

Interictal epileptiform discharges have an independent association with cognitive impairment in children with lesional epilepsy.

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Glennon, Jennifer M; Weiss-Croft, Louise; Harrison, Sue; Cross, J Helen; Boyd, Stewart G; Baldeweg, Torsten

2016-09-01

The relative contribution of interictal epileptiform discharges (IEDs) to cognitive dysfunction in comparison with the underlying brain pathology is not yet understood in children with lesional focal epilepsy. The current study investigated the association of IEDs with intellectual functioning in 103 children with medication-resistant focal epilepsy. Hierarchical multiple regression analyses were used to determine the independent contribution of IED features on intellectual functioning, after controlling for effects of lesional pathology, epilepsy duration, and medication. Exploratory analyses were conducted for language and memory scores as well as academic skills available in a subset of participants. The results reveal that IEDs have a negative association with IQ with independent, additive effects documented for frequent and bilaterally distributed IEDs as well as discharge enhancement in sleep. Left-lateralized IEDs had a prominent effect on verbal intelligence, in excess of the influence of left-sided brain pathology. These effects extended to other cognitive functions, most prominently for sleep-enhanced IEDs to be associated with deficits in expressive and receptive language, reading, spelling and numerical skills. Overall, IED effects on cognition were of a magnitude similar to lesional influences or drug effects (topiramate use). This study demonstrates an association between IEDs and cognitive dysfunction, independent of the underlying focal brain pathology. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

DEFF Research Database (Denmark)

Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline

2016-01-01

associated neurological features. With the exception of one patient who experienced a single seizure, all patients had epilepsy, characterised by falls or head drops due to atonic or myoclonic seizures, (myoclonic) absences and/or eyelid myoclonia. Triggers of seizures were frequent (n=7). Seizures were...... pharmacoresistant in half of the patients. The severity of the epilepsy did not correlate with the presence of autistic features or with the severity of cognitive impairment. Mutations were distributed throughout the gene, but spared spliced 3' and 5' exons. Seizures in patients with mutations in exons 4-5 were...... more pharmacoresponsive than in patients with mutations in exons 8-15. CONCLUSIONS: SYNGAP1 encephalopathy is characterised by early neurodevelopmental delay typically preceding the onset of a relatively recognisable epilepsy comprising generalised seizures (absences, myoclonic jerks) and frequent...

Does early ischemic lesion induce cognitive impairment and epilepsy?

Czech Academy of Sciences Publication Activity Database

Kubová, Hana; Máttéffyová, Adéla; Tsenov, Grygoriy; Otáhal, Jakub

-, - (2005), s. 30-30 [Conference of the Czech Neuroscience Society /5./, The Annual Meeting of the Network of European Neuroscience Institutes. 19.11.2005-21.11.2005, Prague] R&D Projects: GA MŠk(CZ) LC554 Institutional research plan: CEZ:AV0Z50110509 Keywords : focal ischemia * cognitive impairment * development of epilepsy Subject RIV: ED - Physiology

Baseline Cognition, Behavior, and Motor Skills in Children with New-Onset, Idiopathic Epilepsy

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Bhise, Vikram V.; Burack, Gail D.; Mandelbaum, David E.

2010-01-01

Aim: Epilepsy is associated with difficulties in cognition and behavior in children. These problems have been attributed to genetics, ongoing seizures, psychosocial issues, underlying abnormality of the brain, and/or antiepileptic drugs. In a previous study, we found baseline cognitive differences between children with partial versus generalized…

Cognitive dysfunctions in occipital lobe epilepsy compared to temporal lobe epilepsy.

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Santangelo, Gabriella; Trojano, Luigi; Vitale, Carmine; Improta, Ilaria; Alineri, Irma; Meo, Roberta; Bilo, Leonilda

2017-06-01

To compare cognitive profiles of occipital lobe epilepsy (OLE) and temporal lobe epilepsy (TLE) and to investigate whether impairment of visuospatial functions is a specific deficit of OLE. Eighteen patients with OLE, 18 patients with TLE, and 18 controls underwent a neuropsychological battery assessing memory, visuospatial functions, and frontal/executive functions. Multivariate analysis evidenced poorer performance of patients with TLE and patients with OLE relative to controls on tasks assessing verbal and non-verbal long-term memory, frontal functions, and visuospatial functions. Patients with OLE had poorer performance than patients with TLE on visuospatial tasks, whereas patients with TLE performed worse than patients with OLE on verbal long-term memory test. Discriminant analysis identified two canonical discriminant functions: The first explained 53.3% of the variance, and the second explained 46.7% of the variance. The first function included verbal and non-verbal memory tests distinguishing controls from both OLE and TLE, whereas the second factor including a visuoconstructional test distinguished OLE from TLE and controls. The results demonstrate that visuoconstructional dysfunction is related to OLE and support the idea that alterations of occipito-parietal stream may be specific to patients with OLE. © 2015 The British Psychological Society.

Establishing Reliable Cognitive Change in Children with Epilepsy: The Procedures and Results for a Sample with Epilepsy

Science.gov (United States)

van Iterson, Loretta; Augustijn, Paul B.; de Jong, Peter F.; van der Leij, Aryan

2013-01-01

The goal of this study was to investigate reliable cognitive change in epilepsy by developing computational procedures to determine reliable change index scores (RCIs) for the Dutch Wechsler Intelligence Scales for Children. First, RCIs were calculated based on stability coefficients from a reference sample. Then, these RCIs were applied to a…

Long-term management of intractable epilepsy in children

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LIU Yu-jie

2012-10-01

Full Text Available Achievement of seizure free is the ultimate goal of patients with epilepsy. Lifelong treatment may be needed in some epileptic children, especially in those with intractable epilepsy. To be more realistic, this goal may be modified to reduce the frequency of more disabling types of seizures. Chronic seizures influence children in social activities, psychology，cognition as well as many other aspects. Therefore, their long-term management requires concerted lifelong care of pediatricians, neurologists and social workers. During the course of treatment, doctors should evaluate the patients regularly, prevent and control the side effects of antiepileptic drugs (AEDs and monitor patients for AEDs-associated adverse events. In addition, doctors should choose the optimal therapeutic regimen for patients with refractory epilepsy, and achieve a balance between benefit and risk in order to improve the quality of life of patients.

Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report

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Domańska Martyna

2015-06-01

Full Text Available Introduction. Myoclonic epilepsy with ragged red fibers (MERRF is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed.

How people with cognitive disabilities experience electronic planning devices.

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Adolfsson, Päivi; Lindstedt, Helena; Janeslätt, Gunnel

2015-01-01

People with cognitive disabilities have difficulties in accomplishing everyday tasks. Electronic planning devices (EPDs) may compensate for the gap between a person's capacity and everyday challenges. However, the devices are not always used as intended. Despite that, cognitive assistive technology has been investigated in several studies, knowledge regarding when and what makes adults decide to use EPDs is incomplete. The aim was to explore the subjective experiences of people with cognitive disabilities in relation to the use of EPDs. A qualitative approach was applied with a qualitative content analysis. Twelve respondents were interviewed with support from a study specific guide. A model representing the respondents' experiences in the use of EPDs, comprising one theme, Possibility to master my daily life, four categories, Degree of fit to my needs, I am aware of my cognitive disability, I get help to structure my everyday life and The EPD improves my volition and ten subcategories, was developed. EPDs allow people with cognitive disabilities the possibility to deal with daily challenges; those who find EPDs beneficial tend to use them. EPDs can help people with cognitive disabilities in organisation, managing time and improve volition.

CONCEPTUALIZING SPECIALIZED PSYCHOSOCIAL CONSULTING FOR PERSONS WITH EPILEPSY

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Polina Šedienė

2016-09-01

Full Text Available The goal of the article is to describe and to reason conception of specialized psychosocial consulting, revealing definition of epilepsy as disease in classical sociological and existential theories and from rights of disabled person’s perspectives. Restriction of social life and possibilities for disabled, person’s with epilepsy and social worker’s interactions, which have importance for development of disabled people participation in social life, are analysed in the article. In order to achieve the goal various methods are used: scientific literature review, reflection of social worker who works with persons with epilepsy, interviews with the clients of Psychosocial consulting centre for persons with epilepsy in 2015, groups discussions (2013, 2016, analysis of conception of Psychosocial consulting centre for persons with epilepsy. 139SPECIALIZUOTO PSICHOSOCIALINIO KONSULTAVIMO EPILEPSIJA S ERGANTIEMS ASMENIMS KONCEPCIJOS PAGRINDIMAS Based on classical sociological theories, people with disease and society members attach such meanings to the illness, which support and enforce stigmatized attitude and behaviour toward person with disease, strengthens negative social aspects of epilepsy, which restricts present and new developed social interactions, full engagement into society. Historical cultural context of epilepsy presupposes attitude that epileptic seizure is “an awful” event, encounter with death, which reminds finality of human, event which causes fear, panic, rejection of surrenders and which restrains social life of person with epilepsy, his or her selfperception. Therefore people with epilepsy very often confine themselves in sick person role, isolate themselves from society, and become dependent on others. Positive interaction between social worker and person with epilepsy during epileptic seizure strengthens understanding of possibilities of person with epilepsy. Specialised psychosocial consulting services for people with

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

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Graham, John M

2012-05-01

Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Epilepsy and Learning Disabilities: Part 1--Diagnosing and Solving School Learning Disabilities in Epilepsy

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Mittan, Robert J.

2010-01-01

This is a six part article intended to give parents the information and strategies they need to cope with their child with epilepsy who may have school learning problems. Epilepsy and seizures affect the classroom in unique ways that can make the learning experience especially challenging for some kids. Fortunately, much can be done to give the…

Hyperphosphorylated tau in patients with refractory epilepsy correlates with cognitive decline: a study of temporal lobe resections.

Science.gov (United States)

Tai, Xin You; Koepp, Matthias; Duncan, John S; Fox, Nick; Thompson, Pamela; Baxendale, Sallie; Liu, Joan Y W; Reeves, Cheryl; Michalak, Zuzanna; Thom, Maria

2016-09-01

SEE BERNASCONI DOI101093/AWW202 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Temporal lobe epilepsy, the most prevalent form of chronic focal epilepsy, is associated with a high prevalence of cognitive impairment but the responsible underlying pathological mechanisms are unknown. Tau, the microtubule-associated protein, is a hallmark of several neurodegenerative diseases including Alzheimer's disease and chronic traumatic encephalopathy. We hypothesized that hyperphosphorylated tau pathology is associated with cognitive decline in temporal lobe epilepsy and explored this through clinico-pathological study. We first performed pathological examination on tissue from 33 patients who had undergone temporal lobe resection between ages 50 and 65 years to treat drug-refractory temporal lobe epilepsy. We identified hyperphosphorylated tau protein using AT8 immunohistochemistry and compared this distribution to Braak patterns of Alzheimer's disease and patterns of chronic traumatic encephalopathy. We quantified tau pathology using a modified tau score created specifically for analysis of temporal lobectomy tissue and the Braak staging, which was limited without extra-temporal brain areas available. Next, we correlated tau pathology with pre- and postoperative cognitive test scores and clinical risk factors including age at time of surgery, duration of epilepsy, history of secondary generalized seizures, history of head injury, handedness and side of surgery. Thirty-one of 33 cases (94%) showed hyperphosphorylated tau pathology in the form of neuropil threads and neurofibrillary tangles and pre-tangles. Braak stage analysis showed 12% of our epilepsy cohort had a Braak staging III-IV compared to an age-matched non-epilepsy control group from the literature (8%). We identified a mixture of tau pathology patterns characteristic of Alzheimer's disease and chronic traumatic encephalopathy. We also found unusual patterns of subpial tau deposition, sparing of the hippocampus and

Epilepsy. NICHCY Disability Fact Sheet #6

Science.gov (United States)

National Dissemination Center for Children with Disabilities, 2010

2010-01-01

Epilepsy is a seizure disorder. According to the Epilepsy Foundation of America, a seizure happens when a brief, strong surge of electrical activity affects part or all of the brain. About three million Americans have epilepsy. Of the 200,000 new cases diagnosed each year, nearly 45,000 are children and adolescents. Following a brief story of a…

Memory Functioning in Children with Epilepsy: Frontal Lobe Epilepsy, Childhood Absence Epilepsy, and Benign Epilepsy with Centrotemporal Spikes

Directory of Open Access Journals (Sweden)

Ana Filipa Lopes

2014-01-01

Full Text Available Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE, childhood absence epilepsy (CAE, and benign epilepsy with centrotemporal spikes (BECTS and the influence of epilepsy-related variables. Memory was examined in 90 children with epilepsy (each epilepsy group consisted of 30 children, aged 6–15, and compared with 30 control children. Children with FLE showed significant deficits in verbal and visual memory. In addition, type of epilepsy, earlier age at epilepsy onset, and longer active duration of epilepsy were associated with memory problems. Seizure frequency and treatment, however, did not influence memory performance. This study indicates that children with FLE show greater risk of developing memory deficits than children with CAE or BECTS, thus highlighting the importance of assessing also memory functions in frontal lobe epilepsy.

Benign childhood epilepsy with occipital paroxysms: neuropsychological findings.

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Germanò, Eva; Gagliano, Antonella; Magazù, Angela; Sferro, Caterina; Calarese, Tiziana; Mannarino, Erminia; Calamoneri, Filippo

2005-05-01

Benign childhood epilepsy with occipital paroxysms is classified among childhood benign partial epilepsies. The absence of neurological and neuropsychological deficits has long been considered as a prerequisite for a diagnosis of benign childhood partial epilepsy. Much evidence has been reported in literature in the latest years suggesting a neuropsychological impairment in this type of epilepsy, particularly in the type with Rolandic paroxysms. The present work examines the neuropsychological profiles of a sample of subjects affected by the early-onset benign childhood occipital seizures (EBOS) described by Panayotopulos. The patient group included 22 children (14 males and 8 females; mean age 10.1+/-3.3 years) diagnosed as having EBOS. The patients were examined with a set of tests investigating neuropsychological functions: memory, attention, perceptive, motor, linguistic and academic (reading, writing, arithmetic) abilities. The same instruments have been given to a homogeneous control group as regards sex, age, level of education and socio-economic background. None of the subjects affected by EBOS showed intellectual deficit (mean IQ in Wechsler Full Scale 91.7; S.D. 8.9). Results show a widespread cognitive dysfunction in the context of a focal epileptogenic process in EBOS. In particular, children with EBOS show a significant occurrence of specific learning disabilities (SLD) and other subtle neuropsychological deficits. We found selective dysfunctions relating to perceptive-visual attentional ability (pmemory abilities (psupports the hypothesis that epilepsy itself plays a role in the development of neuropsychological impairment. Supported by other studies that have documented subtle neuropsychological deficits in benign partial epilepsy, we stress the importance of reconsidering its supposed "cognitive benignity", particularly in occipital types.

Social skills: differences among adults with intellectual disabilities, co-morbid autism spectrum disorders and epilepsy.

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Smith, Kimberly R M; Matson, Johnny L

2010-01-01

Assessing social skills is one of the most complex and challenging areas to study because behavioral repertoires vary depending on an individual's culture and context. However, researchers have conclusively demonstrated that individuals with intellectual disabilities (ID) have impaired social skills as well as those with co-morbid autism spectrum disorders (ASD) and epilepsy. However, it is unknown how these groups differ. Assessment of social skills was made with the Matson Evaluation of Social Skills for Individuals with Severe Retardation. One hundred participants with ID were matched and compared across four equal groups comprising 25 participants with ID, 25 participants with epilepsy, 25 participants with ASD, and 25 participants with combined ASD and epilepsy. When controlling for age, gender, race, level of ID, and hearing and visual impairments, significant differences were found among the four groups on the MESSIER, Wilks's Λ=.58, F(18, 257)=3.05, psocial skills than the ID only or groups containing only a single co-morbid factor with ID (ASD or epilepsy only). Implications of these findings are discussed. Copyright © 2010 Elsevier Ltd. All rights reserved.

Residual cognitive disability after completion of inpatient rehabilitation among injured children.

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Zonfrillo, Mark R; Durbin, Dennis R; Winston, Flaura K; Zhang, Xuemei; Stineman, Margaret G

2014-01-01

To determine the prevalence and nature of residual cognitive disability after inpatient rehabilitation for children aged 7-18 years with traumatic injuries. This retrospective cohort study included children aged 7-18 years in the Uniform Data System for Medical Rehabilitation who underwent inpatient rehabilitation for traumatic injuries in 523 facilities from 2002-2011. Traumatic injuries were identified by standardized Medicare Inpatient Rehabilitation Facility-Patient Assessment Instrument codes. Cognitive outcomes were measured by the Functional Independence Measure instrument. A validated, categorical staging system derived from responses to the items in the cognitive domain of the functional independence measure was used and consisted of clinically relevant levels of cognitive achievement from stage 1 (total cognitive disability) to stage 7 (completely independent cognitive function). There were 13,798 injured children who completed inpatient rehabilitation during the 10-year period. On admission to inpatient rehabilitation, patients with traumatic brain injury (TBI) had more cognitive disability (median stage 2) than those with spinal cord injury or other injuries (median stage 5). Cognitive functioning improved for all patients, but children with TBI still tended to have significant residual cognitive disability (median stage on discharge, 4). Injured children gained cognitive functionality throughout inpatient rehabilitation. Those with TBI had more severe cognitive disability on admission and more residual disability on discharge. This is important not only for patient and family expectation setting but also for resource and service planning, as discharge from inpatient rehabilitation is a critical milestone for reintegration into society for children with serious injury. Copyright © 2014 Mosby, Inc. All rights reserved.

Health-related quality of life in epilepsy: findings obtained with a new Italian instrument.

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Piazzini, Ada; Beghi, Ettore; Turner, Katherine; Ferraroni, Monica

2008-07-01

The aim of the present study was to evaluate the Epi-QoL, a new Italian-specific measure of health-related quality of life (HRQOL) for adults with epilepsy; the clinical variables that affected the HRQOL score were also assessed. The Epi-QoL is a 46-item self-administered questionnaire focusing on six domains: Physical Functioning, Cognitive Functioning, Emotional Well-Being, Social Functioning, Seizure Worry, and Medication Effects. Eight hundred fifteen patients recruited from 24 secondary and tertiary Italian centers for the care of epilepsy were assessed. The results supported the reliability and validity of the Epi-QoL as a measure of HRQOL. The variables that significantly affected HRQOL scores were: geographic area, gender, seizure frequency, prognostic categories, number of medications, comorbidity, presence of cognitive impairment, psychiatric disturbances, and disability. We believe that a new specific questionnaire for the evaluation of HRQOL in Italy can contribute much to the understanding of the influence of epilepsy on patients' lives.

38 CFR 4.121 - Identification of epilepsy.

Science.gov (United States)

2010-07-01

... epilepsy, the seizures must be witnessed or verified at some time by a physician. As to frequency... epilepsy. 4.121 Section 4.121 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS SCHEDULE FOR RATING DISABILITIES Disability Ratings Neurological Conditions and Convulsive Disorders § 4...

Relationship between SPECT regional cerebral blood flow imaging and cognitive function in school-age children with epilepsy

International Nuclear Information System (INIS)

Liu Jiangyan; Chen Xuehong; Wang Zhengjiang; Hu Jingui; Feng Jianzhong; Li Yimin; Lu Xiujuan

2006-01-01

Objective: To explore the feature of SPECT regional cerebral blood flow(rCBF) imaging, the cognitive functions and the relationship between them in school-age children with primary epilepsy. Methods: 99 Tc m -ethylene cysteinate dimer (ECD) brain imaging was performed on 32 school-age children with primary generalized tonic and (or) clonic seizures(GTCS). Cognitive functions were also evaluated in all patients and normal children. Relationship between cognitive function and rCBF was compared. Results: (1) Thirty of 32 (93.8%) patients were abnormal on SPECT imaging. Fifty areas of 29 cases showed decreased rCBF, the percentage of decreased rCBF was (21.07 ± 7.09)%; 2 areas of 1 case showed increased rCBF, the percentage of increased rCBF was (32.22 ± 4.31)%. 92.3% of the epileptic foci were located in frontal, temporal, parietal and occipital cortexes. (2) Verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ) and full-scale intelligence quotient (FIQ) of children with epilepsy were significantly lower than those of the controls, and there were some cognitive skewnesses in children with epilepsy (VIQ >PIQ). (3)There was negative correlation between the number of foci and VIQ, PIQ, FIQ, the correlation coefficients were -0.543 (P=0.002), -0.469 (P=0.009), -0.578 (P=0.001); there was negative correlation between the extent of foci and VIQ, PIQ, FIQ, the correlation coefficients were -0.560 (P=0.003), -0.142 (P=0.016), -0.582 (P=0.001); there was no significant correlation between all the IQ of cognitive test and the percentage of changed rCBF. Conclusions: SPECT rCBF imaging may be useful for the localization of epileptic focus. Some of school-age children with epilepsy have impairment of the cognitive function, its magnitude is negative correlated with the number and extent of epileptic foci. (authors)

Why epilepsy challenges social life.

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Steiger, Bettina K; Jokeit, Hennric

2017-01-01

Social bonds are at the center of our daily living and are an essential determinant of our quality of life. In people with epilepsy, numerous factors can impede cognitive and affective functions necessary for smooth social interactions. Psychological and psychiatric complications are common in epilepsy and may hinder the processing of social information. In addition, neuropsychological deficits such as slowed processing speed, memory loss or attentional difficulties may interfere with enjoyable reciprocity of social interactions. We consider societal, psychological, and neuropsychological aspects of social life with particular emphasis on socio-cognitive functions in temporal lobe epilepsy. Deficits in emotion recognition and theory of mind, two main aspects of social cognition, are frequently observed in individuals with mesial temporal lobe epilepsy. Results from behavioural studies targeting these functions will be presented with a focus on their relevance for patients' daily life. Furthermore, we will broach the issue of pitfalls in current diagnostic tools and potential directions for future research. By giving a broad overview of individual and interpersonal determinants of social functioning in epilepsy, we hope to provide a basis for future research to establish social cognition as a key component in the comprehensive assessment and care of those with epilepsy. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Sleep and Cognitive Functioning in Children with Disabilities

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Buckhalt, Joseph A.

2013-01-01

Sleep disorders and sleep of insufficient duration and quality have been associated with impaired cognitive functioning in typically developing children and in children with a wide array of disabilities and medical conditions. Among children with disabilities, those with intellectual disability, attention deficit hyperactivity disorder, and autism…

Methylphenidate treatment of attention deficit hyperactivity disorder in young people with learning disability and difficult-to-treat epilepsy: Evidence of clinical benefit

Science.gov (United States)

Fosi, Tangunu; Lax-Pericall, Maria T; Scott, Rod C; Neville, Brian G; Aylett, Sarah E

2013-01-01

Purpose To establish the efficacy and safety of methylphenidate (MPH) treatment for attention deficit hyperactivity disorder (ADHD) in a group of children and young people with learning disability and severe epilepsy. Methods This retrospective study systematically reviewed the case notes of all patients treated with methylphenidate (MPH) for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) ADHD at a specialist epilepsy center between 1998 and 2005. Treatment efficacy was ascertained using clinical global impressions (CGI) scores, and safety was indexed by instances of >25% increase in monthly seizure count within 3 months of starting MPH. Key Findings Eighteen (18) patients were identified with refractory epilepsies (14 generalized, 4 focal), IQ <70, and ADHD. Male patients predominated (13:5) and ADHD was diagnosed at a median age of 11.5 years (range 6–18 years). With use of a combination of a behavioral management program and MPH 0.3–1 mg/kg/day, ADHD symptoms improved in 61% of patients (11/18; type A intraclass correlation coefficient of CGI 0.85, 95% confidence interval [CI] 0.69–0.94). Daily MPH dose, epilepsy variables, and psychiatric comorbidity did not relate to treatment response across the sample. MPH adverse effects led to treatment cessation in three patients (dysphoria in two, anxiety in one). There was no statistical evidence for a deterioration of seizure control in this group with the use of MPH. Significance Methylphenidate with behavioral management was associated with benefit in the management of ADHD in more than half of a group of children with severe epilepsy and additional cognitive impairments. Eighteen percent had significant side effects but no attributable increase in seizures. Methylphenidate is useful in this group and is likely to be under employed. PMID:24304474

The association between disability and cognitive impairment in an elderly Tanzanian population

Directory of Open Access Journals (Sweden)

Catherine L. Dotchin

2015-03-01

Full Text Available Cognitive impairment is thought to be a major cause of disability worldwide, though data from sub-Saharan Africa (SSA are sparse. This study aimed to investigate the association between cognitive impairment and disability in a cohort of community-dwelling older adults living in Tanzania. The study cohort of 296 people aged 70 years and over was recruited as part of a dementia prevalence study. Subjects were diagnosed as having dementia or mild cognitive impairment according to the DSM-IV criteria. Disability level was assessed according to the WHO Disability Assessment Schedule, version 2.0 (WHODAS. A higher WHODAS score indicates greater disability. The median WHODAS in the background population was 25.0; in those with dementia and in those with mild cognitive impairment, 72 of 78 (92.3% and 41 of 46 (89.1%, respectively, had a WHODAS score above this level. The presence of dementia, mild cognitive impairment, hearing impairment, being unable to walk without an aid and not having attended school were independent predictors of having a WHODAS score above 25.0, though age and gender were not. In summary, cognitive impairment is a significant predictor of disability in elderly Tanzanians. Screening for early signs of cognitive decline would allow management strategies to be put in place that may reduce the associated disability burden.

The health-related quality of life of children with refractory epilepsy: a comparison of those with and without intellectual disability.

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Sabaz, M; Cairns, D R; Lawson, J A; Bleasel, A F; Bye, A M

2001-05-01

To determine whether refractory epilepsy affects the health-related quality of life (HRQOL) of children with or without intellectual disability (ID), and if the presence of ID independently compromises HRQOL in children with refractory epilepsy. Subjects were parents of children with refractory epilepsy, whose syndrome had been defined using ILAE (International League Against Epilepsy) criteria and video-EEG monitoring. Children had the presence or absence of ID determined by formal neuropsychological or educational assessment. The relative effect of epilepsy on the two intellectual ability groups was determined using relevant clinical variables. Parents completed a valid epilepsy-specific HRQOL questionnaire for children, the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE), and, depending on intellectual ability level, the Child Behaviour Checklist or Developmental Behaviour Checklist. Both intellectually normal children with epilepsy and children with epilepsy and ID were more likely to have psychosocial problems compared with their respective intellectual ability reference populations. The results also revealed that children with ID had reduced HRQOL compared with intellectually normal children; a result independent of epilepsy. Analysis of the relationship between epilepsy variables and HRQOL revealed that the QOLCE was the most sensitive in detecting variation in age at onset, seizure frequency, and medications taken. The HRQOL of children with refractory epilepsy is greatly affected, regardless of intellectual ability level. The presence of ID in children with epilepsy independently depresses HRQOL outcomes. Compared with two generic HRQOL measures, the QOLCE was the most sensitive measure to variation in epilepsy variables.

Psychiatric Aspects of Childhood Epilepsy

OpenAIRE

Raman Deep PATTANAYAK; Rajesh SAGAR

2012-01-01

How to Cite this Article: Pattanayak RD, Sagar R. Psychiatric Aspects of Childhood Epilepsy. Iran J Child Neurol 2012;6(2):9-18.Childhood epilepsy is a chronic, recurrent disorder of unprovoked seizures. Theonset of epilepsy in childhood has significant implications for brain growth anddevelopment. Seizures may impair the ongoing neurodevelopmental processes and compromise the child’s intellectual and cognitive functioning, leading totremendous cognitive, behavioral and psychosocial consequen...

Abnormality of cerebral cortical glucose metabolism in temporal lobe epilepsy with cognitive function impairment

International Nuclear Information System (INIS)

Bang-Hung Yang; Tsung-Szu Yeh; Tung-Ping Su; Jyh-Cheng Chen; Ren-Shyan Liu

2004-01-01

Objective: People with epilepsy commonly report having problems with their memory. Many indicate that memory difficulties significantly hinder their functioning at work, in school, and at home. Besides, some studies have reported that memory performance as a prognostic factor is of most value in patients with risk of refractory epilepsy and when used in a multidisciplinary setting. However, the cerebral cortical areas involving memory impairment in epilepsy is still unknown. The purpose of this study was to access changes of cerebral glucose metabolism of epilepsy patients using [F-18] fluorodeoxyglucose positron emission tomography (FDG PET). Method: Nine temporal lobe epilepsy patients were studied. Each patient was confirmed with lesions in right mesial temporal lobe by MRI, PET and EEG. Serial cognition function tests were performed. Regional cerebral glucose metabolism (rCMRglc) was measured by PET at 45 minutes after injection of 370 MBq of FDG. Parametric images were generated by grand mean scaling each scan to 50. The images were then transformed into standard stereotactic space. Statistical parametric mapping (SPM2) was applied to find the correlations between verbal memory, figure memory, perception intelligent quotation (PIQ) and rCMRglc in epilepsy patients. The changes of rCMRglc were significant if corrected p value was less than 0.05. Results: There was no significant relationship between figure memory score and verbal memory score. FDG-PET scan showed changes of rCMRglc positive related with verbal memory score in precentral gyms of right frontal lobe (Brodmann area 4, corrected p < 0.001, voxel size 240) and cingulated gyms of right limbic lobe (Brodmann area 32, corrected p=0.002, voxel size 143). No negative relationship was demonstrable between verbal memory and rCMRglc in this study. Besides, significanfiy positive correlation between figure memory was shown in cuneus of right occipital lobe (Brodmann area 18, corrected p < 0.001, voxel size

[Epilepsy and epileptic syndromes during the first year of life].

Science.gov (United States)

Durá-Travé, T; Yoldi-Petri, M E; Hualde-Olascoaga, J; Etayo-Etayo, V

To analyse the epidemiological characteristics and the relative distribution of the different types of epilepsy and epileptic syndromes during the first year of life. An analysis was performed of the patient records of all patients with epilepsy diagnosed during their first year of life who were submitted to a developmental check-up in the year 2007. The sample consisted of 60 patients (27 boys and 33 girls). Epidemiological and clinical data were collected, together with the findings from complementary examinations. The diagnostic criteria applied were those of the International League Against Epilepsy. The mean age at the time of diagnosis was 6.3 months. The mean follow-up time was 7.6 years. The aetiology was symptomatic in 40 cases (66.7%), cryptogenic in 16 (26.7%) and idiopathic in four cases (6.7%). Neuroimaging tests detected abnormalities in 34 patients (56.7%). West's syndrome (30%), symptomatic focal epilepsies (23.3%) and epilepsies linked to specific syndromes (16.7%) were the epileptic syndromes with the highest prevalence. Learning disabilities were observed in 82.5% of the children. Most epilepsies that present during the first year of life are symptomatic and/or cryptogenic, and are accompanied by psychoneurological impairment and/or resistance to therapy, which condition cognitive disorders that are eligible for specialised psycho-pedagogical intervention.

Evaluating subjective cognitive impairment in the adult epilepsy clinic: Effects of depression, number of antiepileptic medications, and seizure frequency.

Science.gov (United States)

Feldman, Lauren; Lapin, Brittany; Busch, Robyn M; Bautista, Jocelyn F

2018-04-01

Subjective cognitive complaints are a frequent concern of patients with epilepsy. The Aldenkamp-Baker Neuropsychological Assessment Schedule (ABNAS) is a patient-reported scale validated to measure adverse cognitive effects of antiepileptic drugs (AEDs). The goals of this study were to identify predictors of patient-reported cognitive dysfunction and to assess the relationship between subjective and objective cognitive impairment. The Cleveland Clinic Knowledge Program Data Registry was used to identify adult patients seen in outpatient epilepsy clinic from January to May 2015 and who completed the following scales: ABNAS for subjective cognitive impairment, Patient Health Questionnaire (PHQ-9) for depression, Generalized Anxiety Disorder 7-item (GAD-7) scale, Quality of Life in Epilepsy (QOLIE-10), and EuroQOL five dimensions questionnaire (EQ-5D) for health-related quality of life. Topiramate (TPM) was considered a high-risk medication for cognitive impairment. Patients were categorized into groups based on total ABNAS score: subjective cognitive impairment (ABNAS>15; N=270) and no subjective cognitive impairment (ABNAS≤15; N=400). Multivariable logistic regression models were constructed to identify independent predictors of subjective cognitive impairment. In a subset of patients who had neuropsychological testing within 6months of completing the ABNAS (N=60), Pearson correlations and multivariable logistic regression models, controlling for number of AEDs, depression, and anxiety, assessed the relationship between subjective cognitive impairment and objective cognitive performance on measures of intelligence, attention/working memory, verbal fluency, naming, processing speed, manual dexterity, visuomotor processing, and verbal memory. Forty percent of patients in the overall sample (N=270/670) reported cognitive impairment. The variables most strongly associated with subjective cognitive impairment were PHQ-9 score, number of AEDs, and seizure frequency. In

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.

Science.gov (United States)

Chipaux, Mathilde; Szurhaj, William; Vercueil, Laurent; Milh, Mathieu; Villeneuve, Nathalie; Cances, Claude; Auvin, Stéphane; Chassagnon, Serge; Napuri, Sylvia; Allaire, Catherine; Derambure, Philippe; Marchal, Cécile; Caubel, Isabelle; Ricard-Mousnier, Brigitte; N'Guyen The Tich, Sylvie; Pinard, Jean-Marc; Bahi-Buisson, Nadia; de Baracé, Claire; Kahane, Philippe; Gautier, Agnès; Hamelin, Sophie; Coste-Zeitoun, Delphine; Rosenberg, Sarah-Dominique; Clerson, Pierre; Nabbout, Rima; Kuchenbuch, Mathieu; Picot, Marie-Christine; Kaminska, Anna

2016-05-01

To obtain perspective on epilepsy in patients referred to tertiary centers in France, and describe etiology, epilepsy syndromes, and identify factors of drug resistance and comorbidities. We performed a cross-sectional analysis of the characteristics of 5,794 pediatric and adult patients with epilepsy included in a collaborative database in France between 2007 and 2013. Comparisons between groups used Student's t-test or Fisher's exact test for binary or categorical variables. Factors associated with drug resistance and intellectual disability were evaluated in multi-adjusted logistic regression models. Mean age at inclusion was 17.9 years; children accounted for 67%. Epilepsy was unclassified in 20% of patients, and etiology was unknown in 65%, including those with idiopathic epilepsies. Etiologies differed significantly in adult- when compared to pediatric-onset epilepsy; however, among focal structural epilepsies, mesial temporal lobe epilepsy with hippocampal sclerosis began as often in the pediatric as in adult age range. Drug resistance concerned 53% of 4,210 patients evaluable for seizure control and was highest in progressive myoclonic epilepsy (89%), metabolic diseases (84%), focal cortical dysplasia (70%), other cortical malformations (69%), and mesial temporal lobe epilepsy with hippocampal sclerosis (67%). Fifty-nine percent of patients with focal structural epilepsy and 69% with epileptic encephalopathies were drug resistant; however, 40-50% of patients with West syndrome and epileptic encephalopathy with continuous spike-and-waves during sleep were seizure-free. Ages at onset in infancy and in young adults shared the highest risk of drug resistance. Epilepsy onset in infancy comprised the highest risk of intellectual disability, whereas specific cognitive impairment affected 36% of children with idiopathic focal epilepsy. Our study provides a snapshot on epilepsy in patients referred to tertiary centers and discloses needs for diagnosis and treatment

Cognitive abilities relate to self-reported hearing disability

NARCIS (Netherlands)

Zekveld, A.A.; George, E.L.J.; Houtgast, T.; Kramer, S.E.

2013-01-01

Purpose: In this explorative study, the authors investigated the relationship between auditory and cognitive abilities and self-reported hearing disability. Method: Thirty-two adults with mild to moderate hearing loss completed the Amsterdam Inventory for Auditory Disability and Handicap (AIADH;

The cross-sectional association between severity of non-cognitive disability and self-reported worsening memory.

Science.gov (United States)

Cannell, M Brad; Bouldin, Erin D; Teigen, Kari; Akhtar, Wajiha Z; Andresen, Elena M

2016-04-01

Research has demonstrated a clear association between cognitive decline and non-cognitive disability; however, all of these studies focus on disability as a correlate or result of some level of cognitive impairment or dysfunction. The relationship between disability and cognition is likely a complex one, that is currently incompletely described in the literature. Our objective was to estimate the prevalence of long-term, non-cognitive disability using a population-representative sample of adults aged 18 and older, and then estimate the association between long-term, non-cognitive disability and self-reported worsening memory. Using the 2009 Florida Behavioral Risk Factor Surveillance System (BRFSS), we measured the relationship between non-cognitive disability and worsening memory using multivariable logistic regression analysis weighted to account for the complex sampling design of the BRFSS. We also estimated the adjusted odds of worsening memory by disability severity, classified according to the types of assistance needed. Approximately 18% (95% confidence interval = (16%, 19%)) of Floridians were living with a long-term, non-cognitive disability in 2009. Among adults with no disability during or prior to the last year, only 5% reported worsening memory. The proportion of Floridians reporting worsening memory increases with increasing severity of disability-related limitations. In a multivariable logistic regression model, odds of worsening memory increased significantly with severity of disability-related limitations. These results highlight the association between non-cognitive disability and subsequent increased odds of worsening memory, independent of several other known risk factors, and a dose-response association with disability-related limitations. Copyright © 2016 Elsevier Inc. All rights reserved.

Training nurses in a competency framework to support adults with epilepsy and intellectual disability: the EpAID cluster RCT.

Science.gov (United States)

Ring, Howard; Howlett, James; Pennington, Mark; Smith, Christopher; Redley, Marcus; Murphy, Caroline; Hook, Roxanne; Platt, Adam; Gilbert, Nakita; Jones, Elizabeth; Kelly, Joanna; Pullen, Angela; Mander, Adrian; Donaldson, Cam; Rowe, Simon; Wason, James; Irvine, Fiona

2018-02-01

People with an intellectual (learning) disability (ID) and epilepsy have an increased seizure frequency, higher frequencies of multiple antiepileptic drug (AED) use and side effects, higher treatment costs, higher mortality rates and more behavioural problems than the rest of the population with epilepsy. The introduction of nurse-led care may lead to improvements in outcome for those with an ID and epilepsy; however, this has not been tested in a definitive clinical trial. To determine whether or not ID nurses, using a competency framework developed to optimise nurse management of epilepsy in people with an ID, can cost-effectively improve clinical and quality-of-life outcomes in the management of epilepsy compared with treatment as usual. Cluster-randomised two-arm trial. Community-based secondary care delivered by members of community ID teams. Participants were adults aged 18-65 years with an ID and epilepsy under the care of a community ID team and had had at least one seizure in the 6 months before the trial. The experimental intervention was the Learning Disability Epilepsy Specialist Nurse Competency Framework. This provides guidelines describing a structure and goals to support the delivery of epilepsy care and management by ID-trained nurses. The primary outcome was the seizure severity scale from the Epilepsy and Learning Disabilities Quality of Life questionnaire. Measures of mood, behaviour, AED side effects and carer strain were also collected. A cost-utility analysis was undertaken along with a qualitative examination of carers' views of participants' epilepsy management. In total, 312 individuals were recruited into the study from 17 research clusters. Using an intention-to-treat analysis controlling for baseline individual-level and cluster-level variables there was no significant difference in seizure severity score between the two arms. Altogether, 238 complete cases were included in the non-imputed primary analysis. Analyses of the secondary

Epilepsy

Science.gov (United States)

... a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle ...

Inclusive Education: Mobile Serious Games for People with Cognitive Disabilities

Directory of Open Access Journals (Sweden)

Angel Jaramillo-Alcázar

2018-03-01

Full Text Available Nowadays, the use of mobile devices is increasingly frequent. In many occasions they are used as a means of entertainment for people through video games. Serious games is a category of video games used as teaching methods in different environments. They use fun as a strategy for the learning process. However, the vast majority do not focus on vulnerable groups such as people with cognitive disabilities, because they do not consider accessibility parameters in their design. Some video games development companies have proposed general guidelines for the implementation of accessible video games, but they have not been formalized as good practices or standards. This article presents a compilation and analysis of different accessibility guidelines for the development of mobile serious games for people with cognitive disabilities. It also proposes a model to evaluate the access of serious games for people with cognitive disabilities and applies it in a case study. Finally, an evaluation tool is proposed for mobile serious games developers focused on people with cognitive disabilities.

Effects of dual pathology on cognitive outcome following left anterior temporal lobectomy for treatment of epilepsy.

Science.gov (United States)

Prayson, B E; Prayson, R A; Kubu, C S; Bingaman, W; Najm, I M; Busch, R M

2013-09-01

The objective of this retrospective study was to determine if dual pathology [DUAL - focal cortical dysplasia (FCD) and mesial temporal sclerosis (MTS)] in patients with left temporal lobe epilepsy is associated with greater risk for cognitive decline following temporal lobectomy than single pathology (MTS only). Sixty-three adults (Mage=36.5years, female: 52.4%) who underwent left anterior temporal lobectomy for treatment of epilepsy (MTS=28; DUAL=35) completed preoperative and postoperative neuropsychological evaluations. The base rate of dual pathology was 55.5%. Repeated measures ANOVAs yielded significant 2-way interactions (group×time) on most measures of language and memory with generally moderate effect sizes. Specifically, patients with MTS only demonstrated postoperative declines, while those with dual pathology remained unchanged or improved. Results suggest that dual pathology may be associated with better cognitive outcome following epilepsy surgery than MTS alone, possibly reflecting limited functionality of the resected tissue or intrahemispheric reorganization of function in the context of a developmental lesion. Copyright © 2013 Elsevier Inc. All rights reserved.

Immunotherapy by targeting of VGKC complex for seizure control and prevention of cognitive impairment in a mouse model of epilepsy.

Science.gov (United States)

Fan, Zhiliang; Feng, Xiaojuan; Fan, Zhigang; Zhu, Xingyuan; Yin, Shaohua

2018-05-09

Epilepsy is a type of refractory neurologic disorder mental disease, which is associated with cognitive impairments and memory dysfunction. However, the potential mechanisms of epilepsy are not well understood. Previous evidence has identified the voltage gated potassium channel complex (VGKC) as a target in various cohorts of patients with epilepsy. In the present study, the efficacy of an antibody against VGKC (anti‑VGKC) for the treatment of epilepsy in mice was investigated. A mouse model of lithium‑pilocarpine temporal lobe epilepsy was established and anti‑VGKC treatment was administered for 30 days. Memory impairment, anxiety, visual attention, inhibitory control and neuronal loss were measured in the mouse model of lithium‑pilocarpine temporal lobe epilepsy. The results revealed that epileptic mice treated with anti‑VGKC were able to learn the task and presented attention impairment, even a tendency toward impulsivity and compulsivity. It was also exhibited that anti‑VGKC treatment decreased neuronal loss in structures classically associated with attentional performance in hippocampus. Mice who received Anti‑VGKC treatment had inhibited motor seizures and hippocampal damage as compared with control mice. In conclusion, these results indicated that anti‑VGKC treatment may present benefits for improvements of the condition of motor attention impairment and cognitive competence, which suggests that VGKC may be a potential target for the treatment of epilepsy.

Behavioral characteristics and cognitive development among school age children born to women with epilepsy.

Science.gov (United States)

Güveli, Betül T; Gürses, Candan; Ataklı, Dilek; Akça Kalem, Şükriye; Dirican, Ahmet; Bebek, Nerses; Baykan, Betül; Gökyiğit, Aysen

2015-04-01

Greater risks of congenital malformation as well as cognitive and behavioral development in later childhood occur as a result of in utero exposure to antiepileptic drugs (AEDs). We examined the effects of AEDs on behavioral characteristics and cognitive development among school age children born to women with epilepsy. Children aged 6-15 years and born to women with epilepsy were enrolled in the study. Information was collected on the women's demographics and the details of their usage/non-usage of AEDs during pregnancy. The Wechsler Intelligence Scale for the Children-Revised (WICS-R) test was administered to the children. The Alexander IQ test and the Conner Parent Rating Scale (CPRS) were administered to the mothers. Comparisons were made between children who had been exposed and not exposed to AEDs in utero and if exposed, according to exposure to AED monotherapy or polytherapy. The mother's education level and IQ score and data from the same parent's siblings were evaluated with respect to consanguinity. Forty-one children born to 28 women with epilepsy were enrolled. Seven mothers had multiple pregnancies. Twenty-three pregnancies (56%) were exposed to monotherapy and five (12·1%) to polytherapy. The remaining 13 (31·7%) were not exposed to AEDs. Maternal education level was a significant major factor in child IQ development (P sibling assessment indicated a negative effect of valproate on IQ. It is important that the AED dosage be reduced to a minimum to maintain seizure control for healthy cognitive and behavioral development of a child.

Cognitive Abilities Relate to Self-Reported Hearing Disability

Science.gov (United States)

Zekveld, Adriana A.; George, Erwin L. J.; Houtgast, Tammo; Kramer, Sophia E.

2013-01-01

Purpose: In this explorative study, the authors investigated the relationship between auditory and cognitive abilities and self-reported hearing disability. Method: Thirty-two adults with mild to moderate hearing loss completed the Amsterdam Inventory for Auditory Disability and Handicap (AIADH; Kramer, Kapteyn, Festen, & Tobi, 1996) and…

The combined effect of visual impairment and cognitive impairment on disability in older people.

Science.gov (United States)

Whitson, Heather E; Cousins, Scott W; Burchett, Bruce M; Hybels, Celia F; Pieper, Carl F; Cohen, Harvey J

2007-06-01

To determine the risk of disability in individuals with coexisting visual and cognitive impairment and to compare the magnitude of risk associated with visual impairment, cognitive impairment, or the multimorbidity. Prospective cohort. North Carolina. Three thousand eight hundred seventy-eight participants in the North Carolina Established Populations for the Epidemiologic Studies of the Elderly with nonmissing visual status, cognitive status, and disability status data at baseline Short Portable Mental Status Questionnaire (cognitive impairment defined as > or =4 errors), self reported visual acuity (visual impairment defined as inability to see well enough to recognize a friend across the street or to read newspaper print), demographic and health-related variables, disability status (activities of daily living (ADLs), instrumental activities of daily living (IADLs), mobility), death, and time to nursing home placement. Participants with coexisting visual and cognitive impairment were at greater risk of IADL disability (odds ratio (OR)=6.50, 95% confidence interval (CI)=4.34-9.75), mobility disability (OR=4.04, 95% CI=2.49-6.54), ADL disability (OR=2.84, 95% CI=1.87-4.32), and incident ADL disability (OR=3.66, 95%, CI=2.36-5.65). In each case, the estimated OR associated with the multimorbidity was greater than the estimated OR associated with visual or cognitive impairment alone, a pattern that was not observed for other adverse outcomes assessed. No significant interactions were observed between cognitive impairment and visual impairment as predictors of disability status. Individuals with coexisting visual impairment and cognitive impairment are at high risk of disability, with each condition contributing additively to disability risk. Further study is needed to improve functional trajectories in patients with this prevalent multimorbidity. When visual or cognitive impairment is present, efforts to maximize the other function may be beneficial.

Feasibility of a mobile cognitive intervention in childhood absence epilepsy

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Peter Glynn

2016-11-01

Full Text Available Children with childhood absence epilepsy (CAE frequently present with cognitive comorbidities and school performance concerns. The present study evaluated the feasibility of an intervention for such comorbidities using a mobile cognitive therapy application on an iPad. Eight children with CAE and school concerns aged 7-11 participated in a four-week intervention. They were asked to use the application for 80 minutes per week (20 minutes/day, 4 times/week. Parents and children completed satisfaction surveys regarding the application. Participants were evaluated before and after the intervention using the Cognitive Domain of the NIH Toolbox and by parental completion of the Behavioral Rating Inventory of Executive Function (BRIEF. All eight patients completed the study, using the iPad for an average of 78 minutes/week. Children and parents reported high satisfaction with the application. Though a demonstration of efficacy was not the focus of the study, performance improvements were noted on a processing speed task and on a measure of fluid intelligence. An iPad based cognitive therapy was found to be a feasible intervention for children with CAE.

Genetics Home Reference: familial focal epilepsy with variable foci

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... with FFEVF have developed psychiatric disorders (such as schizophrenia ), behavioral problems, or intellectual disability. It is unclear ... 5 links) American Epilepsy Society Brain Foundation (Australia) CURE: Citizens United for Research in Epilepsy Epilepsy Foundation ...

Computer-assisted cognitive behavioral therapy for children with epilepsy and anxiety: a pilot study.

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Blocher, Jacquelyn B; Fujikawa, Mayu; Sung, Connie; Jackson, Daren C; Jones, Jana E

2013-04-01

Anxiety disorders are prevalent in children with epilepsy. The purpose of this study was to evaluate the efficacy, adaptability, and feasibility of a manual-based, computer-assisted cognitive behavioral therapy (CBT) intervention for anxiety disorders in children with epilepsy. Fifteen anxious youth (aged 8-13 years) with epilepsy completed 12 weeks of manualized computer-assisted CBT. The children and parents completed a semi-structured interview at baseline, and questionnaires assessing symptoms of anxiety, depression, and behavior problems were completed prior to treatment, at treatment midpoint, after treatment completion, and at three months posttreatment. There were significant reductions in the symptoms of anxiety and depression reported by the children at completion of the intervention and at the three-month follow-up. Similarly, the parents reported fewer symptoms of anxiety and a reduction in behavior problems. No adverse events were reported. This CBT intervention for children with epilepsy and anxiety disorders appears to be safe, effective, and feasible and should be incorporated into future intervention studies. Copyright © 2012 Elsevier Inc. All rights reserved.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

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Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, Christiane

2016-12-01

Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberrations in this gene are causative for an autosomal-recessive disorder with epilepsy, severe intellectual disability (ID) and cortical dysplasia (CDFES). As the number of reported individuals is still limited, we aimed at a further characterisation of the full mutational and clinical spectrum. Targeted sequencing, chromosomal microarray analysis or multigene panel sequencing was performed in individuals with severe ID and epilepsy. We identified homozygous mutations, compound heterozygous CNVs or CNVs and mutations in CNTNAP2 in eight individuals from six unrelated families. All aberrations were inherited from healthy, heterozygous parents and are predicted to be deleterious for protein function. Epilepsy occurred in all affected individuals with onset in the first 3.5 years of life. Further common aspects were ID (severe in 6/8), regression of speech development (5/8) and behavioural anomalies (7/8). Interestingly, cognitive impairment in one of two affected brothers was, in comparison, relatively mild with good speech and simple writing abilities. Cortical dysplasia that was previously reported in CDFES was not present in MRIs of six individuals and only suspected in one. By identifying novel homozygous or compound heterozygous, deleterious CNVs and mutations in eight individuals from six unrelated families with moderate-to-severe ID, early onset epilepsy and behavioural anomalies, we considerably broaden the mutational and clinical spectrum associated with bi-allelic aberrations in CNTNAP2. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Effect of invasive EEG monitoring on cognitive outcome after left temporal lobe epilepsy surgery.

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Busch, Robyn M; Love, Thomas E; Jehi, Lara E; Ferguson, Lisa; Yardi, Ruta; Najm, Imad; Bingaman, William; Gonzalez-Martinez, Jorge

2015-10-27

The objective of this cohort study was to compare neuropsychological outcomes following left temporal lobe resection (TLR) in patients with epilepsy who had or had not undergone prior invasive monitoring. Data were obtained from an institutional review board-approved, neuropsychology registry for patients who underwent epilepsy surgery at Cleveland Clinic between 1997 and 2013. A total of 176 patients (45 with and 131 without invasive EEG) met inclusion criteria. Primary outcome measures were verbal memory and language scores. Other cognitive outcomes were also examined. Outcomes were assessed using difference in scores from before to after surgery and by presence/absence of clinically meaningful decline using reliable change indices (RCIs). Effect of invasive EEG on cognitive outcomes was estimated using weighting and propensity score adjustment to account for differences in baseline characteristics. Linear and logistic regression models compared surgical groups on all cognitive outcomes. Patients with invasive monitoring showed greater declines in confrontation naming; however, when RCIs were used to assess clinically meaningful change, there was no significant treatment effect on naming performance. No difference in verbal memory was observed, regardless of how the outcome was measured. In secondary outcomes, patients with invasive monitoring showed greater declines in working memory, which were no longer apparent using RCIs to define change. There were no outcome differences on other cognitive measures. Results suggest that invasive EEG monitoring conducted prior to left TLR is not associated with greater cognitive morbidity than left TLR alone. This information is important when counseling patients regarding cognitive risks associated with this elective surgery. © 2015 American Academy of Neurology.

Intelligence and specific cognitive functions in intellectual disability: implications for assessment and classification.

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Bertelli, Marco O; Cooper, Sally-Ann; Salvador-Carulla, Luis

2018-03-01

Current diagnostic criteria for intellectual disability categorize ability as measured by IQ tests. However, this does not suit the new conceptualization of intellectual disability, which refers to a range of neuropsychiatric syndromes that have in common early onset, cognitive impairments, and consequent deficits in learning and adaptive functioning. A literature review was undertaken on the concept of intelligence and whether it encompasses a range of specific cognitive functions to solve problems, which might be better reported as a profile, instead of an IQ, with implications for diagnosis and classification of intellectual disability. Data support a model of intelligence consisting of distinct but related processes. Persons with intellectual disability with the same IQ level have different cognitive profiles, based on varying factors involved in aetiopathogenesis. Limitations of functioning and many biopsychological factors associated with intellectual disability are more highly correlated with impairments of specific cognitive functions than with overall IQ. The current model of intelligence, based on IQ, is of limited utility for intellectual disability, given the wide range and variability of cognitive functions and adaptive capacities. Assessing level of individual impairment in executive and specific cognitive functions may be a more useful alternative. This has considerable implications for the revision of the International Classification of Diseases and for the cultural attitude towards intellectual disability in general.

Cognition, academic achievement, and epilepsy in school-age children: a case-control study in a developing country.

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Melbourne Chambers, R; Morrison-Levy, N; Chang, S; Tapper, J; Walker, S; Tulloch-Reid, M

2014-04-01

We conducted a case-control study of 33 Jamaican children 7 to 12years old with uncomplicated epilepsy and 33 of their classroom peers matched for age and gender to determine whether epilepsy resulted in differences in cognitive ability and school achievement and if socioeconomic status or the environment had a moderating effect on any differences. Intelligence, language, memory, attention, executive function, and mathematics ability were assessed using selected tests from NEPSY, WISCR, TeaCh, WRAT3 - expanded, and Raven's Coloured Progressive Matrices. The child's environment at home was measured using the Middle Childhood HOME inventory. Socioeconomic status was determined from a combination of household, crowding, possessions, and sanitation. We compared the characteristics of the cases and controls and used random effects regression models (using the matched pair as the cluster) to examine the relationship between cognition and epilepsy. We found that there was no significant difference in IQ, but children with epilepsy had lower scores on tests of memory (pmathematics ability (coefficient=-0.01, CI: -0.02, -0.00). Adjustment for the home environment and socioeconomic status and inclusion of interaction terms for these variables did not alter these effects. In conclusion, we found that epilepsy status in Jamaican children has a significant effect on performance on tests of memory, language, and mathematics and that this effect is not modified or explained by socioeconomic status or the child's home environment. Copyright © 2014 Elsevier Inc. All rights reserved.

Autoimmune encephalitis: A potentially reversible cause of status epilepticus, epilepsy, and cognitive decline

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Awadh Kishor Pandit

2013-01-01

Full Text Available Objectives: To review clinical characteristics and response to immunomodulation therapy in autoimmune encephalitis presenting with status epilepticus (SE, epilepsy, and cognitive decline. Design: Observational, prospective case series. Setting: All India Institute of Medical Sciences, New Delhi, India. Materials and Methods: Prospective analysis of 15 patients, who presented with SE, epilepsy, cognitive decline, and other neurological symptoms with positive autoantibodies. Demographic and clinical characteristics were recorded. Brain magnetic resonance imaging (MRI, cerebrospinal-fluid analysis (CSF, and tumor screening were done periodically. Treatment received and responses (categorized as per patients and treating doctor′s information were noted. Results: There were 15 (males = 10 patients of autoimmune encephalitis. The mean age of presentation was 24 years (range: 2-64 years. The most common onset was subacute (64% and four (29% patients presented as SE. Predominant clinical presentations were seizures (100% almost of every semiology. CSF was done in 10 patients; it was normal in 60%. Brain MRI was done in all patients, in six (40% it was normal, six (40% showed T2W and FLAIR hyperintensities in bilateral limbic areas. Antibodies found were the N-methyl-D-aspartate receptor antibody in seven (50%, voltage-gated potassium channel antibody in five (36%, two of antiglutamic acid decarboxylase, and one patient with double stranded DNA (dsDNA antibodies. None showed evidence of malignancy. Patients received immunotherapy, either steroids, intravenous immunoglobulin, or both. Follow-up showed significant improvement in majority of cases, neither further seizures nor relapse in nine (67% cases. One death occurred, due to delayed presentation. Conclusions: Uncommon but potentially reversible causes of SE, epilepsy, and cognitive decline may be immune-related and high index of suspicion will prevent missing the diagnosis.

Analytic information processing style in epilepsy patients.

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Buonfiglio, Marzia; Di Sabato, Francesco; Mandillo, Silvia; Albini, Mariarita; Di Bonaventura, Carlo; Giallonardo, Annateresa; Avanzini, Giuliano

2017-08-01

Relevant to the study of epileptogenesis is learning processing, given the pivotal role that neuroplasticity assumes in both mechanisms. Recently, evoked potential analyses showed a link between analytic cognitive style and altered neural excitability in both migraine and healthy subjects, regardless of cognitive impairment or psychological disorders. In this study we evaluated analytic/global and visual/auditory perceptual dimensions of cognitive style in patients with epilepsy. Twenty-five cryptogenic temporal lobe epilepsy (TLE) patients matched with 25 idiopathic generalized epilepsy (IGE) sufferers and 25 healthy volunteers were recruited and participated in three cognitive style tests: "Sternberg-Wagner Self-Assessment Inventory", the C. Cornoldi test series called AMOS, and the Mariani Learning style Questionnaire. Our results demonstrate a significant association between analytic cognitive style and both IGE and TLE and respectively a predominant auditory and visual analytic style (ANOVA: p values <0,0001). These findings should encourage further research to investigate information processing style and its neurophysiological correlates in epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

Epilepsy. Fact Sheet = Epilepsia. Hojas Informativas Sobre Discapacidades.

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National Information Center for Children and Youth with Disabilities, Washington, DC.

This fact sheet, written in both English and Spanish, provides a definition, information on incidence, typical characteristics, and educational implications of epilepsy. It notes that epilepsy is classified as "other health impaired" under the Individuals with Disabilities Education Act (IDEA) and that children with epilepsy or seizure disorders…

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

DEFF Research Database (Denmark)

Klitten, Laura L; Møller, Rikke S; Nikanorova, Marina

2011-01-01

region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes...

Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy.

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Eom, Soyong; Eun, So-Hee; Kang, Hoon-Chul; Eun, Baik-Lin; Nam, Sang Ook; Kim, Sun Jun; Chung, Hee Jung; Kwon, Soon Hak; Lee, Young-Mock; Lee, Joon Soo; Kim, Dong Wook; Oh, Kyung Ja; Kim, Heung Dong

2014-08-01

The aim of this study was to identify the different influencing patterns of demographic and epilepsy-related variables on various aspects of psychosocial function in pediatric epilepsy. Five hundred ninety-eight patients with pediatric epilepsy between the ages of 4 and 18 years (boys=360, 60% and girls=238, 40%) and their parents participated in the study. Parents completed the Social Maturity Scale (SMS), the Korean version of the Child Behavior Checklist (K-CBCL), and the Korean version of the Quality of Life in Childhood Epilepsy Questionnaire (K-QOLCE) to assess daily living function, behavior, and quality of life. The Children's Global Assessment Scale (CGAS) was completed by clinicians to assess general adaptive function. Demographic variables, such as age and sex of child, and epilepsy-related clinical variables, including seizure type, seizure frequency, duration of epilepsy, and number of medications, were obtained from medical records. Demographic and epilepsy-related clinical variables had a strong influence (22-32%) on the cognition-related domain such as general adaptive function, school/total competence, and quality of life for cognitive function while a comparatively smaller effect (2-16%) on the more psychological domain including behavioral, emotional, and social variables. Younger age, shorter duration of illness, and smaller number of medications showed a strong positive impact on psychosocial function in pediatric epilepsy, particularly for adaptive function, competence, and quality-of-life aspects. Given the wide range of impact of demographic and clinical variables on various facets of psychosocial functions, more specific understanding of the various aspects of factors and their particular pattern of influence may enable more effective therapeutic approaches that address both the medical and psychological needs in pediatric epilepsy. Copyright © 2014 Elsevier Inc. All rights reserved.

Perceived Cognitive Deficits, Emotional Distress and Disability following Whiplash Injury

Directory of Open Access Journals (Sweden)

Michael JL Sullivan

2002-01-01

Full Text Available OBJECTIVES: To describe the pattern of perceived cognitive deficits in patients with whiplash injury, to examine the relation between perceived cognitive deficits and disability, and to examine the determinants of perceived cognitive deficits in patients with whiplash injury.

Seizures and Epilepsy and Their Relationship to Autism Spectrum Disorders

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Matson, Johnny L.; Neal, Daniene

2009-01-01

Autism spectrum disorders (ASD) are serious neurodevelopmental disorders which often co-occur with intellectual disabilities. A disorder which is strongly correlated with both of these disabilities are seizures and epilepsy. The purpose of this review was to provide an overview of available research on seizures and epilepsy in the ASD population…

Economic analysis of an epilepsy outreach model of care in a university hospital setting.

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Maloney, Eimer; McGinty, Ronan N; Costello, Daniel J

2017-07-01

The prevalence of epilepsy in people with intellectual disability is higher than in the general population and prevalence rates increase with increasing levels of disability. Prevalence rates of epilepsy are highest among those living in residential care. The healthcare needs of people with intellectual disability and epilepsy are complex and deserve special consideration in terms of healthcare provision and access to specialist epilepsy clinics, which are usually held in acute hospital campuses. This patient population is at risk of suboptimal care because of significant difficulties accessing specialist epilepsy care which is typically delivered in the environs of acute hospitals. In 2014, the epilepsy service at Cork University Hospital established an Epilepsy Outreach Service providing regular, ambulatory outpatient follow up at residential care facilities in Cork city and county in an effort to improve access to care, reduce the burden and expense of patient and carer travel to hospital outpatient appointments, and to provide a dedicated specialist phone service for epilepsy related queries in order to reduce emergency room visits when possible. We present the findings of an economic analysis of the outreach service model of care compared to the traditional hospital outpatient service and demonstrate significant cost savings and improved access to care with this model. Ideally these cost savings should be used to develop novel ways to enhance epilepsy care for persons with disability. We propose that this model of care can be more suitable for persons with disability living in residential care who are at risk of losing access to specialist epilepsy care. Copyright © 2017 Elsevier Inc. All rights reserved.

Relations among motor, social, and cognitive skills in pre-kindergarten children with developmental disabilities.

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Kim, Helyn; Carlson, Abby G; Curby, Timothy W; Winsler, Adam

2016-01-01

Despite the comorbidity between motor difficulties and certain disabilities, limited research has examined links between early motor, cognitive, and social skills in preschool-aged children with developmental disabilities. The present study examined the relative contributions of gross motor and fine motor skills to the prediction of improvements in children's cognitive and social skills among 2,027 pre-kindergarten children with developmental disabilities, including specific learning disorder, speech/language impairment, intellectual disability, and autism spectrum disorder. Results indicated that for pre-kindergarten children with developmental disabilities, fine motor skills, but not gross motor skills, were predictive of improvements in cognitive and social skills, even after controlling for demographic information and initial skill levels. Moreover, depending on the type of developmental disability, the pattern of prediction of gross motor and fine motor skills to improvements in children's cognitive and social skills differed. Implications are discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

Behandling af rolandisk epilepsi

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Miranda, Maria Jose; Ahmad, Banoo Bakir

2017-01-01

Recent literature indicates, that rolandic epilepsy/epilepsy of childhood with centrotemporal spikes may not be as benign as previously assumed. This study investigates the existing evidence, which describes the treatment effects on seizure frequency as well as improvement of cognition in childre...

Academic achievement in children with epilepsy: a review.

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Reilly, Colin; Neville, Brian G R

2011-11-01

To examine published studies which have focussed on academic achievement in children with epilepsy with respect to prevalence rates of academic difficulties and possible correlates of academic achievement. This review examines studies which have focussed on prevalence rates of academic difficulties and correlates of academic achievement in children with epilepsy from 1990 to 2010. Prevalence rates of low academic achievement and academic underachievement are reported and correlates of academic achievement including seizure/epilepsy variables, demographic variables, and child/family variables are examined with respect to published studies. Published studies suggest that low academic achievement is more common than academic underachievement (achievement below that expected on basis of IQ scores) and it is not clear from published studies if rates of academic underachievement are significantly higher than in the general population. Clear patterns with regard to the identification of correlates of academic underachievement have not emerged although low achievement may be influenced in many cases by lower than average levels of cognitive functioning. Most studies have not focussed on the IQ-achievement discrepancy definitions of (specific) learning disability. Children with epilepsy who are experiencing academic difficulties may not qualify for formal educational supports to address these difficulties if eligibility criteria for such supports stress an IQ-achievement discrepancy. Copyright © 2011 Elsevier B.V. All rights reserved.

Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.

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Iourov, Ivan Y; Vorsanova, Svetlana G; Korostelev, Sergei A; Zelenova, Maria A; Yurov, Yuri B

2015-01-01

Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity), uniparental disomy, chromosomal recombination or rearrangements, LCSH are rarely considered as a possible epigenetic cause of neurodevelopmental disorders. Additionally, despite being relevant to imprinting, LCSH at imprinted loci have not been truly addressed in terms of pathogenicity. In this study, we examined LCSH in children with unexplained intellectual disability, autism, congenital malformations and/or epilepsy focusing on chromosomal regions which harbor imprinted disease genes. Out of 267 cases, 14 (5.2 %) were found to have LCSH at imprinted loci associated with a clinical outcome. There were 5 cases of LCSH at 15p11.2, 4 cases of LCSH at 7q31.2, 3 cases of LCSH at 11p15.5, and 2 cases of LCSH at 7q21.3. Apart from a case of LCSH at 7q31.33q32.3 (~4 Mb in size), all causative LCSH were 1-1.5 Mb in size. Clinically, these cases were characterized by a weak resemblance to corresponding imprinting diseases (i.e., Silver-Russell, Beckwith-Wiedemann, and Prader-Willi/Angelman syndromes), exhibiting distinctive intellectual disability, autistic behavior, developmental delay, seizures and/or facial dysmorphisms. Parental consanguinity was detected in 8 cases (3 %), and these cases did not exhibit LCSH at imprinted loci. This study demonstrates that shorter LCSH at chromosomes 7q21.3, 7q31.2, 11p15.5, and 15p11.2 occur with a frequency of about 5 % in the children with intellectual disability, autism, congenital malformations and/or epilepsy. Consequently, this type of epigenetic mutations appears to be the most common one among children with neurodevelopmental diseases. Finally, since LCSH less than 2.5-10 Mb in size are generally ignored in diagnostic SNP microarray studies, one can conclude that an important

Mortality in epilepsy.

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Hitiris, Nikolas; Mohanraj, Rajiv; Norrie, John; Brodie, Martin J

2007-05-01

All studies report an increased mortality risk for people with epilepsy compared with the general population. Population-based studies have demonstrated that the increased mortality is often related to the cause of the epilepsy. Common etiologies include neoplasia, cerebrovascular disease, and pneumonia. Deaths in selected cohorts, such as sudden unexpected death in epilepsy (SUDEP), status epilepticus (SE), suicides, and accidents are more frequently epilepsy-related. SUDEP is a particular cause for concern in younger people, and whether and when SUDEP should be discussed with patients with epilepsy remain problematic issues. Risk factors for SUDEP include generalized tonic-clonic seizures, increased seizure frequency, concomitant learning disability, and antiepileptic drug polypharmacy. The overall incidence of SE may be increasing, although case fatality rates remain constant. Mortality is frequently secondary to acute symptomatic disorders. Poor compliance with treatment in patients with epilepsy accounts for a small proportion of deaths from SE. The incidence of suicide is increased, particularly for individuals with epilepsy and comorbid psychiatric conditions. Late mortality figures in patients undergoing epilepsy surgery vary and are likely to reflect differences in case selection. Future studies of mortality should be prospective and follow agreed guidelines to better quantify risk and causation in individual populations.

Red flags in epilepsy surgery: Identifying the patients who pay a high cognitive price for an unsuccessful surgical outcome.

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Baxendale, Sallie; Thompson, Pamela

2018-01-01

Preoperative estimates of cognitive and seizure outcome must be as accurate as possible if the candidate is to make an informed decision about epilepsy surgery. Significant declines in memory function are reported in approximately 30% of temporal lobe surgery patients. The percentage varies according to the ways in which a postoperative deterioration is defined but since the majority of outcome studies do not take into account the patient's capacity to deteriorate if they are functioning at or close to the floor of a memory test prior to surgery, the published percentages may be an underrepresentation of the true extent of memory decline following epilepsy surgery. We examined the cognitive 'cost' of epilepsy surgery in a consecutive series of 474 patients who underwent elective surgery for medically intractable epilepsy. All patients underwent a presurgical assessment prior to and 1year after the surgery. Reliable change indices were used to identify significant postoperative memory decline. Postoperative outcome was dichotomized using the ILAE 2008 classification. All patients in class one were classified as seizure-free (67.5% of the sample). Excluding patients already functioning at or below the 2nd percentile on standardized memory tests, 37.8% experienced a significant postoperative decline in memory function. Twelve percent experienced the 'double hit' of significant postoperative memory decline and ongoing seizures following surgery. Patients with pathologies other than hippocampal sclerosis and with signs of limited cognitive reserve, both in terms of memory function and overall intellectual ability were most likely to suffer a double hit. Our results indicate that caution should be exercised when operating on these patients and preoperative counseling should be tailored to reflect the likely risk/benefit ratio of a temporal lobe resection for medically intractable epilepsy in this group. Copyright © 2017 Elsevier Inc. All rights reserved.

Prevalence of Mental Illness, Cognitive Disability, and Their Overlap among the Homeless in Nagoya, Japan.

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Akihiro Nishio

Full Text Available While the prevalence of mental illness or cognitive disability is higher among homeless people than the general population in Western countries, few studies have investigated its prevalence in Japan or other Asian countries. The present study conducted a survey to comprehensively assess prevalence of mental illness, cognitive disability, and their overlap among homeless individuals living in Nagoya, Japan.Participants were 114 homeless individuals. Mental illness was diagnosed based on semi-structured interviews conducted by psychiatrists. The Wechsler Adult Intelligence Scale-III (WAIS-III, simplified version was used to diagnose intellectual/ cognitive disability.Among all participants, 42.1% (95% CI 33.4-51.3% were diagnosed with a mental illness: 4.4% (95% CI 1.9-9.9% with schizophrenia or other psychotic disorder, 17.5% (95% CI 11.6-25.6% with a mood disorder, 2.6% (95% CI 0.9-7.5% with an anxiety disorder, 14.0% (95% CI 8.8-21.6% with a substance-related disorder, and 3.5% (95% CI 1.4-8.8% with a personality disorder. Additionally, 34.2% (95% CI 26.1-43.3% demonstrated cognitive disability: 20.2% (95% CI 13.8-28.5% had mild and 14.0% (95% CI 8.8-21.6% had moderate or severe disability. The percent overlap between mental illness and cognitive disability was 15.8% (95% CI 10.2-23.6%. Only 39.5% (95% CI 26.1-43.3% of the participants were considered to have no psychological or cognitive dysfunction. Participants were divided into four groups based on the presence or absence of mental illness and/or cognitive disability. Only individuals with a cognitive disability reported a significant tendency toward not wanting to leave their homeless life.This is the first report showing that the prevalence of mental illness and/or cognitive disability among homeless individuals is much higher than in the general Japanese population. Appropriate support strategies should be devised and executed based on the specificities of an individual's psychological

Prevalence of Mental Illness, Cognitive Disability, and Their Overlap among the Homeless in Nagoya, Japan.

Science.gov (United States)

Nishio, Akihiro; Yamamoto, Mayumi; Horita, Ryo; Sado, Tadahiro; Ueki, Hirofumi; Watanabe, Takahiro; Uehara, Ryosuke; Shioiri, Toshiki

2015-01-01

While the prevalence of mental illness or cognitive disability is higher among homeless people than the general population in Western countries, few studies have investigated its prevalence in Japan or other Asian countries. The present study conducted a survey to comprehensively assess prevalence of mental illness, cognitive disability, and their overlap among homeless individuals living in Nagoya, Japan. Participants were 114 homeless individuals. Mental illness was diagnosed based on semi-structured interviews conducted by psychiatrists. The Wechsler Adult Intelligence Scale-III (WAIS-III, simplified version) was used to diagnose intellectual/ cognitive disability. Among all participants, 42.1% (95% CI 33.4-51.3%) were diagnosed with a mental illness: 4.4% (95% CI 1.9-9.9%) with schizophrenia or other psychotic disorder, 17.5% (95% CI 11.6-25.6%) with a mood disorder, 2.6% (95% CI 0.9-7.5%) with an anxiety disorder, 14.0% (95% CI 8.8-21.6%) with a substance-related disorder, and 3.5% (95% CI 1.4-8.8%) with a personality disorder. Additionally, 34.2% (95% CI 26.1-43.3%) demonstrated cognitive disability: 20.2% (95% CI 13.8-28.5%) had mild and 14.0% (95% CI 8.8-21.6%) had moderate or severe disability. The percent overlap between mental illness and cognitive disability was 15.8% (95% CI 10.2-23.6%). Only 39.5% (95% CI 26.1-43.3%) of the participants were considered to have no psychological or cognitive dysfunction. Participants were divided into four groups based on the presence or absence of mental illness and/or cognitive disability. Only individuals with a cognitive disability reported a significant tendency toward not wanting to leave their homeless life. This is the first report showing that the prevalence of mental illness and/or cognitive disability among homeless individuals is much higher than in the general Japanese population. Appropriate support strategies should be devised and executed based on the specificities of an individual's psychological and

Cognitive and Academic Profiles Associated with Math Disability Subtypes

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Kubas, Hanna A.; Schmid, Amy D.; Drefs, Michelle A.; Poole, Jennifer M.; Holland, Sara; Fiorello, Catherine A.

2014-01-01

Children with math disabilities (MD) represent a heterogeneous group and often display deficits in one or more cognitive domains. Math proficiency requires a number of different cognitive processes, including quantitative knowledge, working memory, processing speed, fluid reasoning, and executive functions. Assessment practices that do not address…

Unique and shared areas of cognitive function in children with intractable frontal or temporal lobe epilepsy.

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Law, Nicole; Widjaja, Elysa; Smith, Mary Lou

2018-03-01

Previous findings have been mixed in terms of identifying a distinct pattern of neuropsychological deficits in children with frontal lobe epilepsy (FLE) and in those with temporal lobe epilepsy (TLE). The current study investigated the neuropsychological similarities and differences across these two pediatric medically intractable localization-related epilepsies. Thirty-eight children with FLE, 20 children with TLE, and 40 healthy children (HC) participated in this study. A comprehensive battery of standardized tests assessed five neuropsychological domains including intelligence, language, memory, executive function, and motor function. A principal component analysis (PCA) was used to distill our neuropsychological measures into latent components to compare between groups. Principal component analysis extracted 5 latent components: executive function (F1), verbal semantics (F2), motor (F3), nonverbal cognition/impulsivity (F4), and verbal cognition/attention (F5). The group with FLE differed from the HC group on F1, F2, F4, and F5, and had worse performance than the group with TLE on F1; the group with TLE had lower performance relative to the HC group on F2. Our findings suggest that, in comparison with neurotypically developing children, children with medically intractable FLE have more widespread neuropsychological impairments than do children with TLE. The differences between the two patient groups were greatest for the factor score most clearly related to executive function. The results provide mixed support for the concept of specificity in neuropsychological dysfunction among different subtypes of localization-related medically intractable childhood epilepsies. Copyright © 2018 Elsevier Inc. All rights reserved.

Mapping of cognitive functions in chronic intractable epilepsy: Role of fMRI

International Nuclear Information System (INIS)

Chaudhary, Kapil; Kumaran, S Senthil; Chandra, Sarat P; Wadhawan, Ashima Nehra; Tripathi, Manjari

2014-01-01

Functional magnetic resonance imaging (fMRI), a non-invasive technique with high spatial resolution and blood oxygen level dependent (BOLD) contrast, has been applied to localize and map cognitive functions in the clinical condition of chronic intractable epilepsy. fMRI was used to map the language and memory network in patients of chronic intractable epilepsy pre- and post-surgery. After obtaining approval from the institutional ethics committee, six patients with intractable epilepsy with an equal number of age-matched controls were recruited in the study. A 1.5 T MR scanner with 12-channel head coil, integrated with audio-visual fMRI accessories was used. Echo planar imaging sequence was used for BOLD studies. There were two sessions in TLE (pre- and post-surgery). In TLE patients, BOLD activation increased post-surgery in comparison of pre-surgery in inferior frontal gyrus (IFG), middle frontal gyrus (MFG), and superior temporal gyrus (STG), during semantic lexical, judgment, comprehension, and semantic memory tasks. Functional MRI is useful to study the basic concepts related to language and memory lateralization in TLE and guide surgeons for preservation of important brain areas during ATLR. This will help in understanding future directions for the diagnosis and treatment of such disease

Mapping of cognitive functions in chronic intractable epilepsy: Role of fMRI

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Kapil Chaudhary

2014-01-01

Full Text Available Background: Functional magnetic resonance imaging (fMRI, a non-invasive technique with high spatial resolution and blood oxygen level dependent (BOLD contrast, has been applied to localize and map cognitive functions in the clinical condition of chronic intractable epilepsy. Purpose: fMRI was used to map the language and memory network in patients of chronic intractable epilepsy pre- and post-surgery. Materials and Methods: After obtaining approval from the institutional ethics committee, six patients with intractable epilepsy with an equal number of age-matched controls were recruited in the study. A 1.5 T MR scanner with 12-channel head coil, integrated with audio-visual fMRI accessories was used. Echo planar imaging sequence was used for BOLD studies. There were two sessions in TLE (pre- and post-surgery. Results: In TLE patients, BOLD activation increased post-surgery in comparison of pre-surgery in inferior frontal gyrus (IFG, middle frontal gyrus (MFG, and superior temporal gyrus (STG, during semantic lexical, judgment, comprehension, and semantic memory tasks. Conclusion: Functional MRI is useful to study the basic concepts related to language and memory lateralization in TLE and guide surgeons for preservation of important brain areas during ATLR. This will help in understanding future directions for the diagnosis and treatment of such disease.

A Systematic Review of the Evidence Regarding Cognitive Therapy Skills That Assist Cognitive Behavioural Therapy in Adults Who Have an Intellectual Disability

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Cooney, Patricia; Tunney, Conall; O'Reilly, Gary

2018-01-01

Background: Cognitive behavioural therapy (CBT) is being increasingly adapted for use with people who have an intellectual disability. However, it remains unclear whether inherent cognitive deficits that are present in adults who have an intellectual disability preclude the use of cognitive-based therapies. This review aims to systematically…

MEG network differences between low- and high-grade glioma related to epilepsy and cognition.

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Edwin van Dellen

Full Text Available OBJECTIVE: To reveal possible differences in whole brain topology of epileptic glioma patients, being low-grade glioma (LGG and high-grade glioma (HGG patients. We studied functional networks in these patients and compared them to those in epilepsy patients with non-glial lesions (NGL and healthy controls. Finally, we related network characteristics to seizure frequency and cognitive performance within patient groups. METHODS: We constructed functional networks from pre-surgical resting-state magnetoencephalography (MEG recordings of 13 LGG patients, 12 HGG patients, 10 NGL patients, and 36 healthy controls. Normalized clustering coefficient and average shortest path length as well as modular structure and network synchronizability were computed for each group. Cognitive performance was assessed in a subset of 11 LGG and 10 HGG patients. RESULTS: LGG patients showed decreased network synchronizability and decreased global integration compared to healthy controls in the theta frequency range (4-8 Hz, similar to NGL patients. HGG patients' networks did not significantly differ from those in controls. Network characteristics correlated with clinical presentation regarding seizure frequency in LGG patients, and with poorer cognitive performance in both LGG and HGG glioma patients. CONCLUSION: Lesion histology partly determines differences in functional networks in glioma patients suffering from epilepsy. We suggest that differences between LGG and HGG patients' networks are explained by differences in plasticity, guided by the particular lesional growth pattern. Interestingly, decreased synchronizability and decreased global integration in the theta band seem to make LGG and NGL patients more prone to the occurrence of seizures and cognitive decline.

Lacosamide in the treatment of patients with epilepsy and intellectual disabilities: A long-term study of 136 patients.

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Böttcher, Stefan; Lutz, Martin T; Mayer, Thomas

2017-10-01

This study aimed to analyze the retention rate of lacosamide (LCM) in patients with epilepsy and intellectual disabilities (IDs), to identify factors influencing retention rate, and to investigate the LCM retention rate with and without concomitant sodium channel blocker (SCB). We hypothesized that the retention rate of LCM with concomitant SCB would be lower than without SCB. Using the Kaplan-Meier estimator, we conducted a monocentric, retrospective, observational, open-label study to evaluate LCM retention rates in patients with IDs and drug-resistant epilepsy. In addition, the impact of therapy-related variables on the long-term retention of LCM was evaluated. One hundred thirty-six subjects with IDs and drug-resistant epilepsy were included (age 2-66 years); most patients had focal epilepsy. Long-term retention rates were 62.0% at 1 year, 43.7% at 2 years, and 29.1% at 3 and 4 years. Reasons for LCM discontinuation included insufficient therapeutic benefits (69%), adverse events (11%), or a combination of both factors (8%). The LCM retention rate was influenced by the number of background antiepileptic drugs (AEDs). An additional and independent influence of concomitant therapy with SCB on retention rate could not be confirmed. One of the major challenges in medically caring for patients with epilepsy and IDs is the high rate of drug resistance. However, there is a lack of evidence-based information about the efficacy and tolerability of AEDs in this population. It has been shown that concomitant SCB use is a key factor in increasing the risk of LCM failure in children with epilepsy. This finding has not been replicated in our predominantly adult sample of patients with IDs. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Complex single gene disorders and epilepsy.

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Merwick, Aine

2012-09-01

Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.

Genetics Home Reference: autosomal dominant nocturnal frontal lobe epilepsy

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... with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear ... Epilepsy Society Citizens United for Research in Epilepsy (CURE) GeneReviews (1 link) Autosomal Dominant Nocturnal Frontal Lobe ...

Numerical and spatial cognition of students with physical disabilities and mild intellectual disabilities

OpenAIRE

Vidmar, Anja

2017-01-01

Mathematics has an important effect on an individual's successfulness and satisfaction in the field of education and life. Numerical and spatial cognition are of crucial importance to successfully master mathematics. If this kind of cognition is poorly developed, it represents one of the most important obstacles to achieving success in the field of mathematics. Students with mild intellectual disabilities are in a worse position already at the starting point of the educational process, as the...

Non-cognitive characteristics of gifted students with learning disabilities : An in-depth systematic review

NARCIS (Netherlands)

Beckmann, Else; Minnaert, Alexander

2018-01-01

Gifted students who also have learning disabilities (G/LD) are often overlooked when students are assessed either for giftedness or specific learning disabilities. The cognitive and non-cognitive characteristics of these G/LD students are habitually discussed only briefly alongside identification

Epilepsy and outcome in FOXG1-related disorders

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Seltzer, Laurie E.; Ma, Mandy; Ahmed, Sohnee; Bertrand, Mary; Dobyns, William B.; Wheless, James; Paciorkowski, Alex R.

2014-01-01

Summary Objective FOXG1-related disorders are associated with severe intellectual disability, absent speech with autistic features, and epilepsy. Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly, morphologic abnormalities of the corpus callosum, and choreiform movements. Duplications of 14q12 often present with infantile spasms, and have subsequent intellectual disability with autistic features. Long term epilepsy outcome and response to treatment has not been studied systematically in a well-described cohort of subjects with FOXG1-related disorders. We report on the epilepsy features and developmental outcome of 23 new subjects with deletions or intragenic mutations of FOXG1, and 7 subjects with duplications. Methods Subjects had either chromosomal microarray or FOXG1 gene sequencing performed as part of routine clinical care. Development and epilepsy follow-up data were collected from medical records from treating neurologists and through telephone parental interviews using standardized questionnaires. Results Epilepsy was diagnosed in 87% of the subjects with FOXG1-related disorders. The mean age of epilepsy diagnosis in FOXG1 duplications was significantly younger than those with deletions/intragenic mutations (p=0.0002). All of the duplication FOXG1 children with infantile spasms responded to hormonal therapy and only one required long-term anti-epileptic therapy. In contrast, more children with deletions/intragenic mutations required anti-epileptic drugs on follow-up (p<0.0005). All subjects with FOXG1-related disorders had neurodevelopmental disabilities after 3 years of age, regardless of the epilepsy type or intractability of seizures. All had impaired verbal language and social contact, and three duplication subjects were formally diagnosed with autism. Subjects with deletion/intragenic mutations however had significantly worse ambulation (p=0.04) and functional hand use (p<0.0005). Significance Epilepsy and

Validation of the PedsQL Epilepsy Module: A pediatric epilepsy-specific health-related quality of life measure.

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Modi, Avani C; Junger, Katherine F; Mara, Constance A; Kellermann, Tanja; Barrett, Lauren; Wagner, Janelle; Mucci, Grace A; Bailey, Laurie; Almane, Dace; Guilfoyle, Shanna M; Urso, Lauryn; Hater, Brooke; Hustzi, Heather; Smith, Gigi; Herrmann, Bruce; Perry, M Scott; Zupanc, Mary; Varni, James W

2017-11-01

To validate a brief and reliable epilepsy-specific, health-related quality of life (HRQOL) measure in children with various seizure types, treatments, and demographic characteristics. This national validation study was conducted across five epilepsy centers in the United States. Youth 5-18 years and caregivers of youth 2-18 years diagnosed with epilepsy completed the PedsQL Epilepsy Module and additional questionnaires to establish reliability and validity of the epilepsy-specific HRQOL instrument. Demographic and medical data were collected through chart reviews. Factor analysis was conducted, and internal consistency (Cronbach's alphas), test-retest reliability, and construct validity were assessed. Questionnaires were analyzed from 430 children with epilepsy (M age = 9.9 years; range 2-18 years; 46% female; 62% white: non-Hispanic; 76% monotherapy, 54% active seizures) and their caregivers. The final PedsQL Epilepsy Module is a 29-item measure with five subscales (i.e., Impact, Cognitive, Sleep, Executive Functioning, and Mood/Behavior) with parallel child and caregiver reports. Internal consistency coefficients ranged from 0.70-0.94. Construct validity and convergence was demonstrated in several ways, including strong relationships with seizure outcomes, antiepileptic drug (AED) side effects, and well-established measures of executive, cognitive, and emotional/behavioral functioning. The PedsQL Epilepsy Module is a reliable measure of HRQOL with strong evidence of its validity across the epilepsy spectrum in both clinical and research settings. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

The Impact of Cognitive Assessment on the Identity of People with Learning Disabilities

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Davidson, Terence; Smith, Hilary; Burns, Jan

2014-01-01

Researchers and clinicians have hypothesised that cognitive assessments have the power to influence the self-identity of people with learning disabilities. This research aimed to explore the experience of a sample of people who had been given a cognitive assessment by a psychologist based in a team for people with learning disabilities. Five…

Cognitive rehabilitation: an important tool in disability improvement after brain injuries

OpenAIRE

Ioana Stanescu; Gabriela Dogaru

2016-01-01

Cognitive rehabilitation is as an important goal of rehabilitation therapy, which aims to help the person with neurological disability to acquire the highest level of cognitive functioning and of functional autonomy. Cognitive impairments in memory, language, judgement, attention, visuo-spatial perception are important blocks in acquiring functional independence. Cognitive rehabilitation therapy is “a systematic, functionally oriented service of therapeutic cognitive activities directed to ...

[How to cope with psychiatric illness in patients with epilepsy].

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Kanemoto, Kousuke; Tadokoro, Yukari; Oshima, Tomohiro

2012-01-01

Almost every kind of psychiatric problems are associated with epilepsy such as psychotic states, manic as well as depressive states and anxiety attacks. Overall, the prevalence of psychiatric comorbidities in patients with epilepsy amounts to as high as 20-30% of all cases. Acute and chronic interictal psychoses, as well as postictal psychosis (or more precisely periictal psychosis), comprise 95% of psychosis in patients with epilepsy. Prevalence of depressive states in patients with yet active epilepsy ranges from 20-55%. Prevalence in patients with controlled epilepsy ranges from 3-9%. Depressive states comprise 50-80% of psychiatric co-morbidities in patients with epilepsy. Several studies reported that PNES amounted to as high as 30% among patients considered as candidates for epilepsy surgery due to intractable epilepsy. It is of clinical use that PNES is divided into 3 groups: The first group belongs to PNES without either intellectual disability nor epilepsy; The second group suffers from intellectual disability in addition to PNES; The third group shows both epileptic seizure and PNES. These groups need to be differently treated. After temporal lobectomy for controlling pharmacoresistant TLE, severe but transient depression possibly leading to suicide can appear, especially within the first few months after surgery.

A review of cognitive impairments in children with intellectual disabilities: Implications for cognitive behaviour therapy.

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Hronis, Anastasia; Roberts, Lynette; Kneebone, Ian I

2017-06-01

Nearly half of children with intellectual disability (ID) have comorbid affective disorders. These problems are chronic if left untreated and can significantly impact upon future vocational, educational, and social opportunities. Despite this, there is a paucity of research into effective treatments for this population. Notably, one of the most supported of psychological therapies, cognitive behaviour therapy (CBT), remains largely uninvestigated in children with ID. The current review considers the neuropsychological profile of children and adolescents with mild to moderate ID, with a view to informing how CBT might best be adapted for children and adolescents with ID. Narrative review of literature considering the neuropsychological profiles of children and adolescents with ID, with specific focus upon attention, memory, learning, executive functioning, and communication. Studies were identified through SCOPUS, PsycINFO, and PubMed databases, using combinations of the key words 'intellectual disability', 'learning disability', 'neuropsychology', 'attention', 'learning', 'memory', 'executive function', 'language', and 'reading'. Children with ID have significant deficits in attention, learning, memory, executive functions, and language. These deficits are likely to have a negative impact upon engagement in CBT. Suggestions for adapting therapy to accommodate these wide ranging deficits are proposed. There are multiple cognitive factors which need to be considered when modifying CBT for children who have ID. Furthermore, research is required to test whether CBT so modified is effective in this population. Clinical implications Effective ways of providing cognitive behavioural therapy (CBT) to children with intellectual disability (ID) is unclear. This study provides a framework of potential adaptations for clinical practice As rates of mental illness for children with intellectual disability are high, and rates of treatment provision low, it is hoped that the

Memory in children with epilepsy: a systematic review.

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Menlove, Leanne; Reilly, Colin

2015-02-01

Research suggests an increased risk for cognitive impairment in childhood epilepsy with memory being one area of cognition most likely to be affected. Understanding the prevalence and predictors of memory difficulties may help improve awareness of the difficulties and allow efficacious supports to be put in place. A systematic review was carried out using the search terms 'memory', 'children' and 'epilepsy' in the database PUBMED. Eighty-eight studies met inclusion criteria. The review focuses on comparisons of memory scores of children with epilepsy and controls, and comparison of memory scores of children with epilepsy to normative scores. Predictors of memory impairment and the effect of surgery on memory functioning are also reviewed. The majority (78%) of studies reviewed revealed that children with epilepsy scored lower than controls and normative scores on measures of memory. Post-surgery, memory scores were reported to improve in 50% of studies. Predictors of memory impairment included a greater number of AEDs used, younger age of onset, increased seizure frequency and longer duration of epilepsy. Children with epilepsy have a high frequency of memory impairments. However, the exact prevalence of difficulties is not clear due to the lack of population-based data. Most studies have not controlled for IQ and thus it is unclear if difficulties are always related to global cognitive difficulties. There is need for future population-based studies and studies focussing on the neurobiology of memory problems in children with epilepsy. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Stability of cognitive performance in children with mild intellectual disability.

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Jenni, Oskar G; Fintelmann, Sylvia; Caflisch, Jon; Latal, Beatrice; Rousson, Valentin; Chaouch, Aziz

2015-05-01

Longitudinal studies that have examined cognitive performance in children with intellectual disability more than twice over the course of their development are scarce. We assessed population and individual stability of cognitive performance in a clinical sample of children with borderline to mild non-syndromic intellectual disability. Thirty-six children (28 males, eight females; age range 3-19y) with borderline to mild intellectual disability (Full-scale IQ [FSIQ] 50-85) of unknown origin were examined in a retrospective clinical case series using linear mixed models including at least three assessments with standardized intelligence tests. Average cognitive performance remained remarkably stable over time (high population stability, drop of only 0.38 IQ points per year, standard error=0.39, p=0.325) whereas individual stability was at best moderate (intraclass correlation of 0.58), indicating that about 60% of the residual variation in FSIQ scores can be attributed to between-child variability. Neither sex nor socio-economic status had a statistically significant impact on FSIQ. Although intellectual disability during childhood is a relatively stable phenomenon, individual stability of IQ is only moderate, likely to be caused by test-to-test reliability (e.g. level of child's cooperation, motivation, and attention). Therefore, clinical decisions and predictions should not rely on single IQ assessments, but should also consider adaptive functioning and previous developmental history. © 2014 Mac Keith Press.

Epilepsy, cognition, and neuropsychiatry (Epilepsy, Brain, and Mind, part 2)

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Korczyn, Amos D.; Schachter, Steven C.; Brodie, Martin J.; Dalal, Sarang S.; Engel, Jerome; Guekht, Alla; Hecimovic, Hrvoje; Jerbi, Karim; Kanner, Andres M.; Landmark, Cecilie Johannessen; Mares, Pavel; Marusic, Petr; Meletti, Stefano; Mula, Marco; Patsalos, Philip N.; Reuber, Markus; Ryvlin, Philippe; Štillová, Klára; Tuchman, Roberto; Rektor, Ivan

2016-01-01

Epilepsy is, of course, not one disease but rather a huge number of disorders that can present with seizures. In common, they all reflect brain dysfunction. Moreover, they can affect the mind and, of course, behavior. While animals too may suffer from epilepsy, as far as we know, the electrical discharges are less likely to affect the mind and behavior, which is not surprising. While the epileptic seizures themselves are episodic, the mental and behavioral changes continue, in many cases, interictally. The episodic mental and behavioral manifestations are more dramatic, while the interictal ones are easier to study with anatomical and functional studies. The following extended summaries complement those presented in Part 1. PMID:23764496

Epilepsy treatment and creativity.

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Zubkov, Sarah; Friedman, Daniel

2016-04-01

Creativity can be defined as the ability to understand, develop, and express, in a systematic fashion, novel orderly relationships. It is sometimes difficult to separate cognitive skills requisite for the creative process from the drive that generates unique new ideas and associations. Epilepsy itself may affect the creative process. The treatment of epilepsy and its comorbidities, by altering or disrupting the same neural networks through antiseizure drugs (ASDs), treatment of epilepsy comorbidities, ablative surgery, or neurostimulation may also affect creativity. In this review, we discuss the potential mechanisms by which treatment can influence the creative process and review the literature on the consequences of therapy on different aspects of creativity in people with epilepsy. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity". Copyright © 2016 Elsevier Inc. All rights reserved.

Early cognitive development in children born to women with epilepsy: a prospective report.

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Bromley, Rebecca L; Mawer, George; Love, Jenna; Kelly, James; Purdy, Laura; McEwan, Lauren; Briggs, Maria; Clayton-Smith, Jill; Shi, Xin; Sin, Xin; Baker, Gus A

2010-10-01

In this prospective study the early cognitive development of children born to women with epilepsy (n = 198) was assessed and compared to a group of children representative of the general population (n = 230). The children were assessed when younger than the age of 2 years using the Griffiths Mental Development Scales, either in their local participating hospital or in their home. The assessments were completed by an assessor who was blinded to whether the child's mother had epilepsy and to antiepileptic drug type. Children exposed to sodium valproate had a statistically significant increased risk of delayed early development in comparison to the control children. Linear regression analysis showed a statistically significant effect of sodium valproate exposure on the child's overall developmental level that was not accounted for by confounding variables. Delayed early development is also noted for children within an ad hoc group of less commonly utilized antiepileptic drugs, although conclusions cannot be drawn due to the size of this group (n = 13). Children exposed to either carbamazepine or lamotrigine in utero did not differ significantly in their overall developmental ability. Differences noted in specific developmental areas for these two groups were not statistically significant after the control for confounders such as socioeconomic status and maternal IQ. Women with epilepsy should be informed of the risks posed to their potential offspring prior to pregnancy to allow for informed decisions regarding treatment. Children exposed in utero to antiepileptic drugs should be monitored throughout childhood to allow for early intervention when necessary. Wiley Periodicals, Inc. © 2010 International League Against Epilepsy.

The Influence of Functional Fitness and Cognitive Training of Physical Disabilities of Institutions

Directory of Open Access Journals (Sweden)

I-Chen Yeh

2015-01-01

Full Text Available According to an investigation done by Taiwan Ministry of the Interior in 2013, there was more than 90% of the disability care institutions mainly based on life care. Previous studies have shown that individuals can effectively improve physical and cognitive training, improved in independent living and everyday competence. The purpose of the study was to investigate influence of the intervention program applying functional fitness and cognitive training to disabled residents in the institution. The subjects were disabled persons of a care institution in southern Taiwan and were randomly divided into training and control groups, both having 17 subjects. The age of the subjects was between 56 and 98 years with a mean age of 79.08 ± 10.04 years; the subjects of training group implemented 12 weeks of training on physical and cognitive training, while the control group subjects did not have any training program. The results revealed that subjects of the training group have significantly improved their functional shoulder rotation flexibility of left and right anterior hip muscle group flexibility of right, sitting functional balance of left and right, naming, attention, delayed recall, orientation, and Montreal cognitive assessment (MOCA. The study suggested developing physical fitness programs and physical and cognitive prescriptions for the disabled people of the institutions.

Children with Epilepsy: The Role of the Educational Psychologist

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Reilly, Colin; Fenton, Virginia

2013-01-01

Childhood epilepsy is the most common paediatric neurological disorder. It is a condition with a well-documented association with cognitive, behavioural and emotional difficulties. Children with epilepsy are at increased risk of global and specific cognitive impairments. They are also at increased risk for symptoms associated with attention…

Cognitive outcome of surgery.

Science.gov (United States)

Gallagher, Anne; Jambaqué, Isabelle; Lassonde, Maryse

2013-01-01

Epilepsy surgery is now widely accepted as an effective therapeutic option for carefully selected children with medically refractory epilepsy. The surgical procedure may cause cognitive deficits or exacerbate existing impairments, but it may also improve cognitive abilities by the restoration of functions located in adjacent or contralateral areas that had been secondarily affected by the epilepsy or the underlying pathology. Compared to adults, better cognitive outcome has been reported in children, a finding probably due to the developing state of the brain, which possesses considerable structural and functional plasticity. More extensive and effective surgery such as hemispherectomy is more commonly used in the pediatric population, and this must also influence surgical outcome. However, studies related to cognitive outcome of epilepsy surgery in children are limited, and controversial results are often reported. In this chapter, we provide a current overview of the literature on cognitive outcomes in children who undergo different types of epilepsy surgery, including focal resections as well as corpus callosotomy and hemispherectomy. Early surgical intervention appears to be a rational option for the treatment of childhood epilepsy since many cognitive deficits are linked to the epileptic process and may disappear when seizures are controlled. Copyright © 2013 Elsevier B.V. All rights reserved.

Approaches to refractory epilepsy

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Jerome Engel

2014-01-01

Full Text Available Epilepsy is one of the most common serious neurological conditions, and 30 to 40% of people with epilepsy have seizures that are not controlled by medication. Patients are considered to have refractory epilepsy if disabling seizures continue despite appropriate trials of two antiseizure drugs, either alone or in combination. At this point, patients should be referred to multidisciplinary epilepsy centers that perform specialized diagnostic testing to first determine whether they are, in fact, pharmacoresistant, and then, if so, offer alternative treatments. Apparent pharmacoresistance can result from a variety of situations, including noncompliance, seizures that are not epileptic, misdiagnosis of the seizure type or epilepsy syndrome, inappropriate use of medication, and lifestyle issues. For patients who are pharmacoresistant, surgical treatment offers the best opportunity for complete freedom from seizures. Surgically remediable epilepsy syndromes have been identified, but patients with more complicated epilepsy can also benefit from surgical treatment and require more specialized evaluation, including intracranial EEG monitoring. For patients who are not surgical candidates, or who are unwilling to consider surgery, a variety of other alternative treatments can be considered, including peripheral or central neurostimulation, ketogenic diet, and complementary and alternative approaches. When such alternative treatments are not appropriate or effective, quality of life can still be greatly improved by the psychological and social support services offered by multidisciplinary epilepsy centers. A major obstacle remains the fact that only a small proportion of patients with refractory epilepsy are referred for expert evaluation and treatment.

Potential role of a cognitive rehabilitation program following left temporal lobe epilepsy surgery

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Camila de Vasconcelos Geraldi

Full Text Available ABSTRACT Research into memory and epilepsy has focused on measuring problems and exploring causes with limited attention directed at the role of neuropsychological rehabilitation in alleviating post-operative memory difficulties. Objectives To assess the effects of a memory rehabilitation program in patients with left temporal lobe epilepsy following surgery. Methods Twenty-four patients agreed to participate and 18 completed the study; nine received memory rehabilitation while nine had no input and were designated as controls. Verbal learning efficiency, naming abilities, memory subjective ratings, ecological activity measures and a language fMRI paradigm were used as outcome measures. Results Improved verbal learning and naming test performance, increase in memory strategy use and improved self-perception were observed following the rehabilitation. Changes in fMRI activation patterns were seen in the rehabilitation group over the long term. Conclusion The findings support the potential role of a cognitive rehabilitation program following left temporal lobe surgery.

A Social Model of Loneliness: The Roles of Disability, Social Resources, and Cognitive Impairment.

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Burholt, Vanessa; Windle, Gill; Morgan, Deborah J

2017-11-10

We consider the points at which cognitive impairment may impact on the pathway to loneliness for older people, through impeding social interaction with family and friends, or by interfering with judgments concerning satisfaction with relationships. We conceptualize a mediation model anticipating that social resources (LSNS-6) will mediate the pathway between disability (Townsend Disability Scale) and loneliness (De Jong Gierveld 6-item scale) and a moderated-mediation model in which we hypothesize that cognitive impairment (MMSE) will moderate the association between disability and social resources and between social resources and loneliness. To validate the hypothesized pathways, we draw on the CFAS Wales data set (N = 3,593) which is a nationally representative study of community-dwelling people aged 65 and older in Wales. Disability had a significant indirect effect on loneliness through the mediating variable social resources. Cognitive impairment was significantly associated with social resources, but did not moderate the relationship between disability and social resources. Cognitive impairment had a significant impact on loneliness, and moderated the effect of social resources on loneliness. Social structures can (dis)empower people with cognitive impairment and lead to exclusion from social resources or impact on the social construction of aging, cognitive impairment, and dementia. The sense of self for an older person with cognitive impairment may be influenced by social norms and stereotypes, or through a temporal social comparison with an "earlier" sense of self. We conclude that loneliness interventions should be theoretically informed to identify key areas for modification. © The Author 2016. Published by Oxford University Press on behalf of The Gerontological Society of America.

The impact of epilepsy on preschool children and their families.

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Tanriverdi, Müberra; Mutluay, Fatma Karantay; Tarakçi, Devrim; Güler, Serhat; Iscan, Akin

2016-09-01

This study investigated the possible presence of sensory-motor developmental impairments in preschool children with epilepsy and explored epilepsy impact on their activities and quality of life and on the stress load of their family. Study participants were children aged 2-6years diagnosed with epilepsy without any other comorbidities (epi-only children). The instruments used for assessment included the Neurological, Sensory, Motor, Developmental Assessment (NSMDA) scale for sensory-motor development, the Impact of Childhood Neurologic Disability Scale (ICNDS), and the Impact of Pediatric Epilepsy Scale (IPES) for disease impact on disability and Quality of Life (QoL), as well as the Pediatric Outcomes Data Collection Instrument (PODCI) for functional health status, and the Parental Stress Scale (PSS) for the family stress load. Required data were obtained from direct testing or observation of children's activities and mother-supplied answers to questions. Eighty-two children were investigated. The NSMDA scores were in the normal development range 6-8. Significant moderate impact of the disease on disability and QoL was estimated with the ICNDS and IPES instruments. The PODCI scores were similar to healthy population levels except for the happiness dimension which was better for children with epilepsy. PSS were significantly above normal. The functional health and QoL of the children as well as their family stress were found to be positively correlated with increasing age. It is found that epilepsy does not degrade neuromotor development and functional health status of preschool epi-only children, though it has a significant impact on their neurological disability and QoL and the stress level of their families; this impact seems to decrease with age. Copyright © 2016 Elsevier Inc. All rights reserved.

Epilepsy beyond seizures: a review of the impact of epilepsy and its comorbidities on health-related quality of life in dogs.

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Packer, Rowena M A; Volk, Holger A

2015-09-26

Epilepsy is one of the most common chronic neurological conditions in the dog, estimated to affect 0.6 to 0.75 per cent of dogs. Owners of dogs with epilepsy have previously indicated that their dog's quality of life (QoL) is of greatest importance to them above seizure frequency; however, much of the research into canine epilepsy to date has focussed on seizure frequency, and how to reduce it via antiepileptic drug treatment. In people, the impact of epilepsy upon QoL has been widely studied, exploring not only its impact on physical health, but also the psychological health and cognitive capabilities of affected individuals. This paper reviews the existing literature on canine epilepsy, identifies potential threats to QoL, and draws parallels from human epilepsy research. We suggest that canine epilepsy poses threats to both quality and quantity of life, with treatment interventions posing a fine balance of potential benefits and harms to the patient. At present, little is known about the neurobehavioural, emotional and cognitive effects of epilepsy upon affected dogs. Further studies are needed to establish the extent to which unknown QoL-inhibiting comorbidities exist in the dog, in order to avoid their undertreatment, and to objectively quantify the effects of epilepsy on canine QoL. British Veterinary Association.

Relationship between motor and cognitive development in children with developmental disabilities

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Houwen, Suzanne; Visser, Linda; van der Putten, Annette; Vlaskamp, Carla

2014-01-01

Background: There is an emerging body of evidence showing that motor and cognitive development are intertwined. However, little is known about (early) motor, cognitive, and language development in children with developmental disabilities. The aims of this study were to examine motor development in

Role of cognitive theory in the study of learning disability in mathematics.

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Geary, David C

2005-01-01

Gersten, Jordan, and Flojo (in this issue) provide the beginnings of an essential bridge between basic research on mathematical disabilities (MD) in young children and the application of this research for the early identification and remediation of these forms of learning disability. As they acknowledge, the field of MD is in the early stages of development, and thus recommendations regarding identification measures and remedial techniques must be considered preliminary. I discuss the importance of maintaining a tight link between theoretical and empirical research on children's developing numerical, arithmetical, and mathematical competencies and future research on learning disabilities in mathematics. This link will provide the foundation for transforming experimental procedures into assessment measures, understanding the cognitive strengths and weaknesses of children with these forms of learning disability, and developing remedial approaches based on the pattern of cognitive strengths and weaknesses for individual children.

Brain injury in very preterm children and neurosensory and cognitive disabilities during childhood: the EPIPAGE cohort study.

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Stéphane Marret

Full Text Available OBJECTIVE: To investigate the association of motor and cognitive/learning deficiencies and overall disabilities in very preterm (VPT children and their relations to gestational age (GA and brain lesions. DESIGN SETTING AND PARTICIPANTS: EPIPAGE is a longitudinal population-based cohort study of children born before 33 weeks' gestation (WG in 9 French regions in 1997-1998. Cumulating data from all follow up stages, neurodevelopmental outcomes were available for 90% of the 2480 VPT survivors at 8 years. Main outcomes were association of motor and cognitive deficiencies and existence of at least one deficiency (motor, cognitive, behavioral/psychiatric, epileptic, visual, and/or hearing deficiencies in three GA groups (24-26, 27-28, and 29-32WG and four groups of brain lesions (none, minor, moderate, or severe. RESULTS: VPT had high rates of motor (14% and cognitive (31% deficiencies. Only 6% had an isolated motor deficiency, 23% an isolated cognitive one and 8% both types. This rate reached 20% among extremely preterm. Psychiatric disorders and epilepsy were observed in 6% and 2% of children, respectively. The risks of at least one severe or moderate deficiency were 11 and 29%. These risks increased as GA decreased; only 36% of children born extremely preterm had no reported deficiency. Among children with major white matter injury (WMI, deficiency rates reached 71% at 24-26WG, 88% at 27-28WG, and 80% at 29-32WG; more than 40% had associated motor and cognitive deficiencies. By contrast, isolated cognitive deficiency was the most frequent problem among children without major lesions. CONCLUSIONS: In VPT, the lower the GA, the higher the neurodisability rate. Cerebral palsy is common. Impaired cognitive development is more frequent. Its occurrence in case without WMI or early motor disorders makes long-term follow up necessary. The strong association between motor impairments, when they exist, and later cognitive dysfunction supports the hypothesis

THE EXPERIENCE OF HOPANTENIC ACID APPLICATION IN THE SYRUP FOR THE CHILDREN, SUFFERING FROM EPILEPSY WITH COGNITIVE DISORDERS AND ATTENTION DEFICIT AND HYPERACTIVITY DISORDER

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V.I. Guzeva

2007-01-01

Full Text Available The search for nootropic medications, which don't aggravate the implications of the hyperactivity disorder and sleep disturbances, is an urgent issue in the children's neurology. For the purpose of pantohamium sirupus appraisal, the researchers examined 20 patient aged between 3 years old and 4 years 11 months old, suffering from epilepsy with cognitive disorders and attention deficit and hyperactivity disorder. All the patients underwent interviewing with the composite questionnaire, oddball tasks, mechanical memory tests (memorizing 3–4 words, dynamic memory tests (repeating 2 groups of words, colour test (for the children of 4 years old, as well as electroencephalography and by indications clinical and biochemical examination. After the course of panto hamium sirupus treatment the researchers discovered the general improvement of attention, mechanical and dynamic memory, anxiety reduction and compensation boost based on the colour test conducted among the children, suffering from epilepsy with attention deficit and hyperactivity disorder. Most patients showed the improvement indices of the EEG background rhythm structure and normalization of background zone differences. The analysis of the obtained results allowed the researchers to conclude that pantohamium sirupus was safe and efficient in the complex therapy among the children, suffering from epilepsy with cognitive disorders and attention deficit and hyperactivity disorder.Key words: hopantenic acid, pantohamium, epilepsy, attention deficit, hyperactivity, cognitive disorders.

Disentangling the relationship between epilepsy and its behavioral comorbidities : the need for prospective studies in new-onset epilepsies

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Helmstaedter, C.; Aldenkamp, A.P.; Baker, G.A.; Mazarati, A.; Ryvlin, P.; Sankar, R.

2013-01-01

It has been long recognized that there is more to epilepsy than seizures. The prevalence of such neurobehavioral abnormalities as cognitive and mood disorders, autism spectrum disorder, and attention deficit and hyperactivity disorder (ADHD) is significantly higher among patients with epilepsy than

Learning real-life cognitive abilities in a novel 360°-virtual reality supermarket: a neuropsychological study of healthy participants and patients with epilepsy.

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Grewe, Philip; Kohsik, Agnes; Flentge, David; Dyck, Eugen; Botsch, Mario; Winter, York; Markowitsch, Hans J; Bien, Christian G; Piefke, Martina

2013-04-23

in the OctaVis will be efficient for the assessment and training of real-life cognitive abilities in healthy subjects and patients with epilepsy. It is most likely that our findings will also apply for patients with cognitive disabilities resulting from other neurological and psychiatric syndromes.

Efficacy of the Danish epilepsy surgery programme

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Holm, E; Foged, M T; Beniczky, S

2018-01-01

lobe after ICR were free of disabling seizures. 12% of MTLE patients developed de novo depression after epilepsy surgery despite good surgical outcome. Three patients required rehabilitation due to post-operative hemiplegia. CONCLUSION: The outcomes of the Danish epilepsy surgery programme align...... epilepsy surgery programme from 2009 to 2014. MATERIAL AND METHODS: A total of 169 consecutive patients, operated at Rigshospitalet, were included. Information was gathered from digital patient records. Before 1-year follow-up, two patients were lost to follow-up and three were referred to new surgery...

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

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Zerem, A.; Haginoya, K.; Lev, D.; Blumkin, L.; Kivity, S.; Linder, I.; Shoubridge, C.; Palmer, E.E.; Field, M.; Boyle, J.; Chitayat, D.; Gaillard, W.D.; Kossoff, E.H.; Willems, M.; Genevieve, D.; Tran-Mau-Them, F.; Epstein, O.; Heyman, E.; Dugan, S.; Masurel-Paulet, A.; Piton, A.; Kleefstra, T.; Pfundt, R.; Sato, R.; Tzschach, A.; Matsumoto, N.; Saitsu, H.; Leshinsky-Silver, E.; Lerman-Sagie, T.

2016-01-01

OBJECTIVE: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. METHODS: Forty-eight patients with IQSEC2 variants were identified worldwide through Medline

Perampanel and Challenging Behaviour in Intellectual Disability and Epilepsy: A Management Dilemma

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Emily Dolton

2014-01-01

Full Text Available We describe a case of a patient with a diagnosis of moderate learning disability with challenging behaviour and treatment refractory epilepsy. Antiepileptics can increase challenging behaviour; however, antipsychotics can provoke seizures. This results in a difficult balance for patient care. Due to worsening seizures, the patient was prescribed perampanel. This increased her aggression and agitation resulting in admission. We trialled four antipsychotic drugs to reduce her challenging behaviour, two of which worsened her seizures. It was necessary to continue antiepileptic medication to maintain adequate seizure control. However, the resulting uncontrolled challenging behaviour persisted, meaning she was unable to return to her family home on discharge. This case emphasises the difficult scenario clinician’s encounter when balancing the use of antipsychotics and antiepileptics. The case demonstrates the significant functional loss due to challenging behaviour, balanced against controlling life threatening seizures.

Intraindividual differences in motivation and cognition in students with and without learning disabilities.

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Pintrich, P R; Anderman, E M; Klobucar, C

1994-01-01

The present study examines several cognitive and motivational variables that distinguish children with learning disabilities (n = 19) from children without learning disabilities (n = 20). The total sample included 30 males and 9 females and was composed of white, fifth-grade students from a middle-class community in the Midwest. Results showed that although the students with learning disabilities displayed lower levels of metacognitive knowledge and reading comprehension, they did not differ from the students without learning disabilities on self-efficacy, intrinsic orientation, or anxiety. In addition, they did not show any signs of learned helplessness, although they did tend to attribute success and failure to external causes more often than the students without learning disabilities. Using a cluster analysis that grouped individuals, we found that differences in the motivational and cognitive variables cut across a priori categories of children with and without learning disabilities. Three clusters were formed: one with high comprehension, motivation, and metacognition (mostly children without learning disabilities); one with low levels of comprehension and metacognition but high intrinsic motivation (all children with learning disabilities); and one with low intrinsic motivation but average comprehension, metacognition, and attributional style (approximately equal numbers of children with and without learning disabilities). Implications for diagnosis and intervention for students with learning disabilities are discussed.

Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy.

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Emma W Viscidi

Full Text Available To estimate the prevalence of epilepsy in children with Autism Spectrum Disorder (ASD and to determine the demographic and clinical characteristics of children with ASD and epilepsy in a large patient population.Cross-sectional study using four samples of children with ASD for a total of 5,815 participants with ASD. The prevalence of epilepsy was estimated from a population-based sample. Children with and without epilepsy were compared on demographic and clinical characteristics. Multivariate logistic regression was used to examine the association between demographic and clinical characteristics and epilepsy.The average prevalence of epilepsy in children with ASD 2-17 years was 12.5%; among children aged 13 years and older, 26% had epilepsy. Epilepsy was associated with older age, lower cognitive ability, poorer adaptive and language functioning, a history of developmental regression and more severe ASD symptoms. The association between epilepsy and the majority of these characteristics appears to be driven by the lower IQ of participants with epilepsy. In a multivariate regression model, only age and cognitive ability were independently associated with epilepsy. Children age 10 or older had 2.35 times the odds of being diagnosed with epilepsy (p<.001 and for a one standard deviation increase in IQ, the odds of having epilepsy decreased by 47% (p<.001.This is among the largest studies to date of patients with ASD and co-occurring epilepsy. Based on a representative sample of children with ASD, the average prevalence of epilepsy is approximately 12% and reaches 26% by adolescence. Independent associations were found between epilepsy and older age and lower cognitive ability. Other risk factors, such as poor language and developmental regression, are not associated with epilepsy after controlling for IQ. These findings can help guide prognosis and alert clinicians to patients with ASD who are at increased risk for epilepsy.

Nutrition, Frailty, Cognitive Frailty and Prevention of Disabilities with Aging.

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Guyonnet, Sophie; Secher, Marion; Vellas, Bruno

2015-01-01

Older adults can be categorized into three subgroups to better design and develop personalized interventions: the disabled (those needing assistance in the accomplishment of basic activities of daily living), the 'frail' (those presenting limitations and impairments in the absence of disability) and the 'robust' (those without frailty or disability). However, despite evidence linking frailty with a poor outcome, frailty is not implemented clinically in most countries. Since many people are not identified as frail, their treatment is frequently inappropriate in health care settings. Assessing the frail and prefrail older adults can no longer be delayed, we should rather act preventively before the irreversible disabling cascade is in place. Clinical characteristics of frailty such as weakness, low energy, slow walking speed, low physical activity and weight loss underline the links between nutrition and frailty. Physical frailty is also associated with cognitive frailty. We need to better understand cognitive frailty, a syndrome which must be differentiated from Alzheimer's disease. At the Gérontopôle frailty clinics, we have found that almost 40% of the patients referred to our center by their primary care physicians to evaluate frailty had significant weight loss in the past 3 months, 83.9% of patients presented slow gait speed, 53.8% a sedentary lifestyle and 57.7% poor muscle strength. Moreover, 43% had a Mini-Nutritional Assessment less than 23.5 and 9% less than 17, which reflects protein-energy undernutrition. More than 60% had some cognitive impairment associated with physical frailty. © 2015 Nestec Ltd., Vevey/S. Karger AG, Basel.

Relation of callosal structure to cognitive abilities in temporal lobe epilepsy

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Christine eSchneider

2014-02-01

Full Text Available The main objective of this paper is to analyse the influence of mesial temporal lobe epilepsy (TLE on the morphology of the corpus callosum (CC and its relation to cognitive abilities. More specifically, we investigated correlations between intellectual abilities and callosal morphology, while additionally exploring the modulating impact of (a side of seizure onset (b age of disease onset.For this reason a large representative sample of patients with hippocampal sclerosis (n=79; 35 males; 44 females; age: 18-63 years with disease onset ranging from 0 to 50 years of age, and consisting of 46 left and 33 right TLE patients was recruited. Intelligence was measured using the Wechsler Adult Intelligence Scale Revised (WAIS-R.To get localizations of correlations with high anatomic precision, callosal morphology was examined using computational mesh-based modeling methods, applied to anatomical brain MRI scans.Intellectual performance was positively associated with callosal thickness in anterior and midcallosal callosal regions, with anterior parts being slightly more affected by age of disease onset and side of seizure onset than posterior parts. Earlier age at onset of epilepsy was associated with lower thickness in anterior and midcallosal regions. In addition, laterality of seizure onset had a significant influence on anterior CC morphology, with left hemispheric origin having stronger effects.We found that in TLE, anterior and midcallosal CC morphology are related to cognitive performance. The findings support recent findings of detrimental effects of early onset mTLE on anterior brain regions and of a distinct effect particularly of left TLE on frontal lobe functioning and structure. The causal nature of the relationship remains an open question, i.e., whether CC morphology impacts IQ development or whether IQ development impacts CC morphology, or both.

Physical exercise for late life depression: effects on cognition and disability.

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Neviani, Francesca; Belvederi Murri, Martino; Mussi, Chiara; Triolo, Federico; Toni, Giulio; Simoncini, Elisabetta; Tripi, Ferdinando; Menchetti, Marco; Ferrari, Silvia; Ceresini, Graziano; Cremonini, Alessandro; Bertolotti, Marco; Neri, Giovanni; Squatrito, Salvatore; Amore, Mario; Zanetidou, Stamatula; Neri, Mirco

2017-07-01

Late-life depression is often associated with cognitive impairments and disability, which may persist even after adequate antidepressant drug treatment. Physical exercise is increasingly recognized as an effective antidepressant agent, and may exert positive effects on these features too. However, few studies examined this issue, especially by comparing different types of exercises. We performed secondary analyses on data from the Safety and Efficacy of Exercise for Depression in Seniors study, a trial comparing the antidepressant effectiveness of sertraline (S), sertraline plus thrice-weekly non-progressive exercise (S+NPE), and sertraline plus thrice-weekly progressive aerobic exercise (S+PAE). Exercise was conducted in small groups and monitored by heart rate meters. Patients with late-life depression without severe cognitive impairment were recruited from primary care and assessed at baseline and 24 weeks, using the Montreal Cognitive Assessment (MOCA, total and subdomain scores) and Brief Disability Questionnaire. Analyses were based on Generalized Linear Models. In total, 121 patients (mean age 75, 71% females) were randomized to the study interventions. Compared with the S group, patients in the S+PAE group displayed greater improvements of MOCA total scores (p=0.006, effect size=0.37), visuospatial/executive functions (p=0.001, effect size=0.13), and disability (p=0.02, effect size=-0.31). Participants in the S+NPE group did not display significant differences with the control group. Adding aerobic, progressive exercise to antidepressant drug treatment may offer significant advantages over standard treatment for cognitive abilities and disability. These findings suggest that even among older patients exercise may constitute a valid therapeutic measure to improve patients' outcomes.

The Managing Epilepsy Well Network:: Advancing Epilepsy Self-Management.

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Sajatovic, Martha; Jobst, Barbara C; Shegog, Ross; Bamps, Yvan A; Begley, Charles E; Fraser, Robert T; Johnson, Erica K; Pandey, Dilip K; Quarells, Rakale C; Scal, Peter; Spruill, Tanya M; Thompson, Nancy J; Kobau, Rosemarie

2017-03-01

Epilepsy, a complex spectrum of disorders, affects about 2.9 million people in the U.S. Similar to other chronic disorders, people with epilepsy face challenges related to management of the disorder, its treatment, co-occurring depression, disability, social disadvantages, and stigma. Two national conferences on public health and epilepsy (1997, 2003) and a 2012 IOM report on the public health dimensions of epilepsy highlighted important knowledge gaps and emphasized the need for evidence-based, scalable epilepsy self-management programs. The Centers for Disease Control and Prevention translated recommendations on self-management research and dissemination into an applied research program through the Prevention Research Centers Managing Epilepsy Well (MEW) Network. MEW Network objectives are to advance epilepsy self-management research by developing effective interventions that can be broadly disseminated for use in people's homes, healthcare providers' offices, or in community settings. The aim of this report is to provide an update on the MEW Network research pipeline, which spans efficacy, effectiveness, and dissemination. Many of the interventions use e-health strategies to eliminate barriers to care (e.g., lack of transportation, functional limitations, and stigma). Strengths of this mature research network are the culture of collaboration, community-based partnerships, e-health methods, and its portfolio of prevention activities, which range from efficacy studies engaging hard-to-reach groups, to initiatives focused on provider training and knowledge translation. The MEW Network works with organizations across the country to expand its capacity, help leverage funding and other resources, and enhance the development, dissemination, and sustainability of MEW Network programs and tools. Guided by national initiatives targeting chronic disease or epilepsy burden since 2007, the MEW Network has been responsible for more than 43 scientific journal articles, two

ADAT3-related intellectual disability: Further delineation of the phenotype.

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El-Hattab, Ayman W; Saleh, Mohammed A; Hashem, Amal; Al-Owain, Mohammed; Asmari, Ali Al; Rabei, Hala; Abdelraouf, Hanem; Hashem, Mais; Alazami, Anas M; Patel, Nisha; Shaheen, Ranad; Faqeih, Eissa A; Alkuraya, Fowzan S

2016-05-01

ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. Other common features included growth failure, microcephaly, tone abnormalities, epilepsy, and nonspecific brain abnormalities. A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing, was identified in all affected individuals. In this report, we present additional 15 individuals from 11 families (10 Saudis and 1 Emirati) who are homozygous for the same founder mutation. In addition to the universal findings of intellectual disability and strabismus, the majority exhibited microcephaly and growth failure. Additional features not reported in the original cohort include dysmorphic facial features (prominent forehead, up-slanted palpebral fissures, epicanthus, and depressed nasal bridge), behavioral problems (hyperactivity and aggressiveness), recurrent otitis media, and growth hormone deficiency. ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia. © 2016 Wiley Periodicals, Inc.

Tailored unilobar and multilobar resections for orbitofrontal-plus epilepsy.

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Serletis, Demitre; Bulacio, Juan; Alexopoulos, Andreas; Najm, Imad; Bingaman, William; González-Martínez, Jorge

2014-10-01

Surgery for frontal lobe epilepsy often has poor results, likely because of incomplete resection of the epileptogenic zone. To present our experience with a series of patients manifesting 2 different anatomo-electro-clinical patterns of refractory orbitofrontal epilepsy, necessitating different surgical approaches for resection in each group. Eleven patients with refractory epilepsy involving the orbitofrontal region were consecutively identified over 3 years in whom stereoelectroencephalography identified the epileptogenic zone. All patients underwent preoperative evaluation, stereoelectroencephalography, and postoperative magnetic resonance imaging. Demographic features, seizure semiology, imaging characteristics, location of the epileptogenic zone, surgical resection site, and pathological diagnosis were analyzed. Surgical outcome was correlated with type of resection. Five patients exhibited orbitofrontal plus frontal epilepsy with the epileptogenic zone consistently residing in the frontal lobe; after surgery, 4 patients were free of disabling seizures (Engel I) and 1 patient improved (Engel II). The remaining 6 patients had multilobar epilepsy with the epileptogenic zone located in the orbitofrontal cortex associated with the temporal polar region (orbitofrontal plus temporal polar epilepsy). After surgery, all 6 patients were free of disabling seizures (Engel I). Pathology confirmed focal cortical dysplasia in all patients. We report no complications or mortalities in this series. Our findings highlight the importance of differentiating between orbitofrontal plus frontal and orbitofrontal plus temporal polar epilepsy in patients afflicted with seizures involving the orbitofrontal cortex. For identified cases of orbitofrontal plus temporal polar epilepsy, a multilobar resection including the temporal pole may lead to improved postoperative outcomes with minimal morbidity or mortality.

Relationship between social competence and neurocognitive performance in children with epilepsy.

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Raud, Triin; Kaldoja, Mari-Liis; Kolk, Anneli

2015-11-01

Epilepsy may affect a child's social skills and social cognition. The purpose of the study was to examine associations between sociocognitive skills and neurocognitive performance in children with epilepsy. Thirty-five children with epilepsy between the ages of 7 and 12 years (25 with partial and 10 with generalized epilepsy) and 30 controls participated. Theory of Mind (ToM) tasks, Social Cognition Questionnaire proposed by Saltzman-Benaiah and Lalonde (2007), and Social Skills Rating System were used to assess social competence and sociocognitive skills. Neurocognitive performance was assessed using the NEPSY battery. Children with epilepsy demonstrated more difficulties in understanding false belief (pChildren with epilepsy performed significantly worse in attention, executive, verbal, and fine motor tasks (pChildren with generalized epilepsy had more problems in memory tasks (pchildren with partial epilepsy. An age of onset over 9.1 years was positively associated with ToM skills (r=.42, pchildren with better executive functions, and language and visuospatial skills was revealed. The type of epilepsy and age of onset significantly affected ToM skills. Copyright © 2015 Elsevier Inc. All rights reserved.

Cognitive-Behavioral Therapy for Depression in Individuals with Intellectual Disabilities: A Review

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James, Jessica S.

2017-01-01

Depression is common in individuals with intellectual disabilities, but evidence regarding treatment for this population is lacking. Through a systematic literature review of cognitive-behavioral therapy (CBT) with individuals with intellectual disabilities, a total of six studies were identified that used pretest-post-test nonequivalent control…

Reduced Language Connectivity in Pediatric Epilepsy

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Leigh N., Sepeta; Louise J., Croft; Lauren A., Zimmaro; Elizabeth S., Duke; Virginia K., Terwilliger; Benjamin E., Yerys; Xiaozhen., You; Chandan J., Vaidya; William D., Gaillard; Madison M., Berl

2014-01-01

Objective Functional connectivity (FC) among language regions is decreased in adults with epilepsy compared to controls, but less is known about FC in children with epilepsy. We sought to determine if language FC is reduced in pediatric epilepsy, and examined clinical factors that associate with language FC in this population. Methods We assessed FC during an age-adjusted language task in children with left-hemisphere focal epilepsy (n=19) compared to controls (n=19). Time series data were extracted for three left ROIs and their right homologues: inferior frontal gyrus (IFG), middle frontal gyrus (MFG), and Wernicke's area (WA) using SPM8. Associations between FC and factors such as cognitive performance, language dominance, and epilepsy duration were assessed. Results Children with epilepsy showed decreased interhemispheric connectivity compared to controls, particularly between core left language regions (IFG, WA) and their right hemisphere homologues, as well as decreased intrahemispheric right frontal FC. Increased intrahemispheric FC between left IFG and left WA was a positive predictor of language skills overall, and naming ability in particular. FC of language areas was not affected by language dominance, as the effects remained when only examining study participants with left language dominance. Overall FC did not differ according to duration of epilepsy or age of onset. Significance FC during a language task is reduced in children, similar to findings in adults. In specific, children with left focal epilepsy demonstrated decreased interhemispheric FC in temporal and frontal language connections and decreased intrahemispheric right frontal FC. These differences were present near the onset of epilepsy. Greater FC between left language centers is related to better language ability. Our results highlight that connectivity of language areas has a developmental pattern and is related to cognitive ability. PMID:25516399

[Possibilities of psychoprophylaxis in epilepsy].

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Bilikiewicz, A

1976-01-01

The psychiatrist should be given also their share in the prevetion of epilepsy by means of raising the psychiatric culture of the society and teaching the population the principles of mental hygiene and psychoprophylaxia. The possibilities of psychiatry in prophylactic management of patients with developed epilepsy include: 1. Energetic measures for controlling attacks which has many psychoprophylactic aspects. 2. Prevention of psychotraumatizing situations leading to secondary neurotic, psychotic and other reactions and behaviour disorders of the type of homilopathy and sociopathy, 3. Counteracting the development of mental and social disability in epileptics. Treatment of epilepsy should be conducted from its very beginning in cooperation with psychiatrists and therapeutic psychologists. The probems of prophylaxis cannot be separated from prophylactic treatment, psychotherapy sociotherapy and rehabilitation.

Cognitive rehabilitation training in patients with brain tumor-related epilepsy and cognitive deficits: a pilot study.

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Maschio, Marta; Dinapoli, Loredana; Fabi, Alessandra; Giannarelli, Diana; Cantelmi, Tonino

2015-11-01

The aim of this pilot observational study was to evaluate effect of cognitive rehabilitation training (RehabTr) on cognitive performances in patients with brain tumor-related epilepsy (BTRE) and cognitive disturbances. Medical inclusion criteria: patients (M/F) ≥ 18 years ≤ 75 with symptomatic seizures due to primary brain tumors or brain metastases in stable treatment with antiepileptic drugs; previous surgical resection or biopsy; >70 Karnofsky Performance Status; stable oncological disease. Eligible patients recruited from 100 consecutive patients with BTRE at first visit to our Center from 2011 to 2012. All recruited patients were administered battery of neuropsychological tests exploring various cognitive domains. Patients considered to have a neuropsychological deficit were those with at least one test score for a given domain indicative of impairment. Thirty patients out of 100 showed cognitive deficits, and were offered participation in RehabTr, of which 16 accepted (5 low grade glioma, 4 high grade glioma, 2 glioblastoma, 2 meningioma and 3 metastases) and 14 declined for various reasons. The RehabTr consisted of one weekly individual session of 1 h, for a total of 10 weeks, carried out by a trained psychologist. The functions trained were: memory, attention, visuo-spatial functions, language and reasoning by means of Training NeuroPsicologico (TNP(®)) software. To evaluate the effect of the RehabTr, the same battery of tests was administered directly after cognitive rehabilitation (T1), and at six-month follow-up (T2). Statistical analysis with Student T test for paired data showed that short-term verbal memory, episodic memory, fluency and long term visuo-spatial memory improved immediately after the T1 and remained stable at T2. At final follow-up all patients showed an improvement in at least one domain that had been lower than normal at baseline. Our results demonstrated a positive effect of rehabilitative training at different times, and, for

Art and epilepsy surgery.

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Ladino, Lady Diana; Hunter, Gary; Téllez-Zenteno, José Francisco

2013-10-01

The impact of health and disease has led many artists to depict these themes for thousands of years. Specifically, epilepsy has been the subject of many famous works, likely because of the dramatic and misunderstood nature of the clinical presentation. It often evokes religious and even mythical processes. Epilepsy surgical treatment has revolutionized the care of selected patients and is a relatively recent advance. Epilepsy surgery has been depicted in very few artistic works. The first portrait showing a potential surgical treatment for patients with epilepsy was painted in the 12th century. During the Renaissance, Bosch famously provided artistic commentary on traditional beliefs in "The stone of madness". Several of these works demonstrate a surgeon extracting a stone from a patient's head, at one time believed to be the source of all "folly", including epileptic seizures, psychosis, intellectual disability, depression, and a variety of other illnesses. There are some contemporary art pieces including themes around epilepsy surgery, all of them depicting ancient Inca Empire procedures such as trepanning. This article reviews the most relevant artistic works related with epilepsy surgery and also its historical context at the time the work was produced. We also present a painting from the Mexican artist Eduardo Urbano Merino that represents the patient's journey through refractory epilepsy, investigations, and ultimately recovery. Through this work, the artist intends to communicate hope and reassurance to patients going through this difficult process. © 2013.

Epilepsy, comorbid conditions in Canadian children: analysis of cross-sectional data from cycle 3 of the National Longitudinal Study of Children and Youth.

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Prasad, Asuri N; Burneo, Jorge G; Corbett, Bradley

2014-11-01

The purpose of this study was to analyze national survey data to provide estimates of prevalence of epilepsy and associated developmental disabilities and comorbid conditions. We analyzed data from Cycle 3 of Canada's National Longitudinal Survey of Children and Youth. The NLSCY captured, socio-demographic information, as well as age, sex, education, ethnicity, household income, chronic health related conditions from birth to 15 years old. The main survey question intended to identify "epilepsy", "cerebral palsy", "intellectual disability", "learning disability", and "emotional and nervous difficulties" in the population of children surveyed. Prevalence was based on the national cross-sectional sample and used 1000 bootstrap weights to account for survey design factors. Cycle 3 of the NLSCY had the largest number of patients with diagnosed epilepsy. Prevalence figures (n/1000) for epilepsy and cerebral palsy (EPI_CP), epilepsy and intellectual disability (EPI_ID), epilepsy and learning disability (EPI_LD), and epilepsy and emotional nervous difficulties (EPI_EMO_NERV) were 1.1, 1.17, 2.58 and 1.34 respectively. Amongst children with epilepsy, 43.17% reported the presence of one or more of the above comorbid conditions. These results provide an initial prevalence estimate of comorbid conditions with epilepsy in Canadian children. In a high proportion of children with epilepsy, the PMK had reported at least one comorbid disorder. These findings carry implications for health care utilization and long-term outcomes. We discuss methodological aspects related to the ascertainment of epilepsy in both surveys, and to the validity and implications of our findings. Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

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Tan, Chuan; Shard, Chloe; Ranieri, Enzo

2015-01-01

Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females, EFMR; MIM300088) is an infantile onset epilepsy syndrome with or without intellectual disability (ID) and autism. We investigated transcriptomes of PCDH19-FE female and ...

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Science.gov (United States)

Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun-ichi; Ida, Kazumi; Naruto, Takuya; Iai, Mizue; Kurosawa, Kenji

2014-08-01

Kuechler et al. [2011] reported five patients with interstitial deletions in 8q22.2-q22.3 who had intellectual disability, epilepsy, and dysmorphic features. We report on a new patient with the smallest overlapping de novo deletion in 8q22.3 and refined the phenotype. The proposita was an 8-year-old girl, who developed seizures at 10 months, and her epileptic seizure became severe and difficult to control with antiepileptic drugs. She also exhibited developmental delay and walked alone at 24 months. She was referred to us for evaluation for developmental delay and epilepsy at the age of 8 years. She had intellectual disability (IQ 37 at 7 years) and autistic behavior, and spoke two word sentences at 8 years. She had mild dysmorphic features, including telecanthus and thick vermilion of the lips. Array comparative genomic hybridization detected a 1.36 Mb deletion in 8q22.3 that encompassed RRM2B and NCALD, which encode the small subunit of p53-inducible ribonucleotide reductase and neurocalcin delta in the neuronal calcium sensor family of calcium-binding proteins, respectively. The minimum overlapping region between the present and previously reported patients is considered to be a critical region for the phenotype of the deletion in 8q22.3. We suggest that the deletion in 8q22.3 may represent a clinically recognizable condition, which is characterized by intellectual disability and epilepsy. © 2014 Wiley Periodicals, Inc.

Psychosocial aspects of epilepsy in Nigeria: a review

African Journals Online (AJOL)

2Department of Behavioural Medicine, Lagos State University College of Medicine, Ikeja, Lagos, Nigeria ... prevalence, epidemiology, psychiatric morbidity, social issues, quality of life, cognition, .... epilepsy are more likely to experience anxiety, depression ..... towards epilepsy in secondary school students in Tanzania.

Atherosclerosis in epilepsy: its causes and implications.

Science.gov (United States)

Hamed, Sherifa A

2014-12-01

Evidence from epidemiological, longitudinal, prospective, double-blinded clinical trials as well as case reports documents age-accelerated atherosclerosis with increased carotid artery intima media thickness (CA-IMT) in patients with epilepsy. These findings raise concern regarding their implications for age-accelerated cognitive and behavioral changes in midlife and risk of later age-related cognitive disorders including neurodegenerative processes such as Alzheimer's disease (AD). Chronic epilepsy, cerebral atherosclerosis, and age-related cognitive disorders including AD share many clinical manifestations (e.g. characteristic cognitive deficits), risk factors, and structural and pathological brain abnormalities. These shared risk factors include increased CA-IMT, hyperhomocysteinemia (HHcy), lipid abnormalities, weight gain and obesity, insulin resistance (IR), and high levels of inflammatory and oxidative stresses. The resulting brain structural and pathological abnormalities include decreased volume of the hippocampus, increased cortical thinning of the frontal lobe, ventricular expansion and increased white matter ischemic disease, total brain atrophy, and β-amyloid protein deposition in the brain. The knowledge that age-accelerated atherosclerosis may contribute to age-accelerated cognitive and behavioral abnormalities and structural brain pathologies in patients with chronic epilepsy represents an important research path to pursue future clinical and management considerations. Copyright © 2014 Elsevier Inc. All rights reserved.

Decline in word-finding: The objective cognitive finding most relevant to patients after mesial temporal lobe epilepsy surgery.

Science.gov (United States)

Pauli, Carla; de Oliveira Thais, Maria Emilia Rodrigues; Guarnieri, Ricardo; Schwarzbold, Marcelo Liborio; Diaz, Alexandre Paim; Ben, Juliana; Linhares, Marcelo Neves; Markowitsch, Hans Joachim; Wolf, Peter; Wiebe, Samuel; Lin, Katia; Walz, Roger

2017-10-01

The purpose of this study was to investigate the following: i) the objective impairment in neuropsychological tests that were associated with the subjective perception of cognitive function decline in Brazilian patients who underwent mesial temporal lobe epilepsy (MTLE) surgery and ii) the predictive variables for those impaired objective neuropsychological tests. Forty-eight adults with MTLE (27 right HS and 23 male) were divided according to their perception of changes (Decline or No-decline) of cognitive function domain of the QOLIE-31 questionnaire applied before and 1year after the ATL. The mean (SD) of changes in the raw score difference of the neuropsychological tests before and after the ATL was compared between Decline and No-decline groups. Receiver Operating Characteristic curves, sensitivity, specificity, and predictive values were used to assess the optimum cutoff points of neuropsychological test score changes to predict patient-reported subjective cognitive decline. Six (12.5%) patients reported a perception of cognitive function decline after ATL. Among the 25 cognitive tests analyzed, only changes in the Boston Naming Test (BNT) were associated with subjective cognitive decline reported by patients. A reduction of ≥8 points in the raw score of BNT after surgery had 91% of sensitivity and 45% specificity for predicting subjective perception of cognitive function decline by the patient. Left side surgery and age older than 40years were more associated with an important BNT reduction with overall accuracy of 91.7%, 95% predictive ability for no impairment, and 75% for impairment of cognitive function. Impairment in word-finding seems to be the objective cognitive finding most relevant to Brazilian patients after mesial temporal lobe epilepsy surgery. Similar to American patients, the side of surgery and age are good predictors for no decline in the BNT, but shows a lower accuracy to predict its decline. If replicated in other populations, the

Long-term socioeconomic consequences and health care costs of childhood and adolescent-onset epilepsy.

Science.gov (United States)

Jennum, Poul; Christensen, Jakob; Ibsen, Rikke; Kjellberg, Jakob

2016-07-01

To estimate long-term socioeconomic consequences and health care costs of epilepsy with onset in childhood and adolescence. A historical prospective cohort study of Danish individuals with epilepsy, age up to 20 years at time of diagnosis between January 1981 and December 2012. Information about marital status, parenthood, educational level, employment status, income, use of the health care system, and cost of medicine was obtained from nationwide administrative and health registers. We identified 12,756 and 28,319 people with diagnosed with epilepsy, ages 0-5 and 6-20 years at onset, respectively. Using follow-up data for a maximum of 30 years, 1,394 of those ages 0-5 years at onset were compared with 2,897 controls persons without epilepsy, and 10,195 of those ages 6-20 years at onset were compared with 20,678 controls without epilepsy. Compared with people without the epilepsy, those with epilepsy tended to have a lower level of education, to be less likely to be married, to be more likely to live alone, and to have higher divorce and unemployment rates, lower employment rates, and people with epilepsy were more likely to receive disability pension and social security. Income was lower from employment, which in part was compensated by social security, sick pay, disability pension and unemployment benefit, sick pay (public-funded), disability pension, and other public transfers. Predicted health care costs 30 years after epilepsy onset were significantly higher among persons with epilepsy onset at 0-5 and 6-20 years, including costs for outpatient and inpatient services (hospital services), emergency room use, primary health care sector (general practice), and use of medication. The long-term negative effects on all aspects of health care and social domains, including marital status, parental socioeconomic status, educational level, employment status, and use of welfare benefits compared with controls without epilepsy calls for increased awareness on

The Relationship Between Disability and Variables of Depression, Cognitive Status, and Morale Among Older People

Directory of Open Access Journals (Sweden)

Mohammad Reza Shahbazi

2016-04-01

Conclusion: Disability in older people had a significant relationship with their depression, cognitive status, and morale. Thus, the degree of their disability can be lowered by prevention and early treatment of depression, promotion of memory, delaying cognitive disorders, as well as providing morale enhancement programs, creating a positive attitude toward old age, and increasing life satisfaction in older people. 

Impact of an educational comic book on epilepsy-related knowledge, awareness, and attitudes among school children in Ethiopia.

Science.gov (United States)

Tekle-Haimanot, Redda; Preux, Pierre Marie; Gerard, Daniel; Worku, Dawit Kibru; Belay, Hanna Demissie; Gebrewold, Meron Awraris

2016-08-01

Epilepsy is of worldwide public health importance because it is common, often accompanied by physical and cognitive disabilities, and is widely stigmatized. The incidence of epilepsy in Ethiopia was reported to be 64/100,000 population and a prevalence of 520/100,000 population. A minority of subjects is treated, and religious and sociocultural beliefs influence the nature of treatment and care. One approach to support the development of positive attitudes toward individuals with disabilities is through the use of comics. Comics have been effective in creating awareness and educating about epilepsy. We conducted a cross-sectional study among randomly selected students from two preparatory schools (one from a city and the other from a rural area) in June 2014. We collected information using a structured KAP questionnaire before and after reading a comic book. The comic book relevance was assessed by 40 health professionals. One hundred sixteen students from urban and 110 from rural high schools were enrolled in the present study with an age distribution of 31.9% in 16-17years, 48.7% in 18-19years, and 19.5% in 20+years. Thirty percent of the urban school was male compared with sixty-five percent of the rural school. The comic book was recommended as useful educational material to be distributed among school children by 90% of interviewed health professionals (internists, neurologist, psychiatrists, residents, GPs, and nurses). The comic book was appreciated by the Ethiopian high school students. After brief exposure to the comic book, students could extract a great deal of information, it could change misconceptions and provide correct information about epilepsy, and can be an effective approach to epilepsy awareness creation. Health professionals found the comic book to be very informative and recommended its distribution to students, teachers, nurses, libraries, and community/religious leaders. Illustrations were Ethiopian-oriented. Copyright © 2016. Published by

The role of high-frequency oscillations in epilepsy surgery planning.

Science.gov (United States)

Gloss, David; Nevitt, Sarah J; Staba, Richard

2017-10-05

Epilepsy is a serious brain disorder characterized by recurrent unprovoked seizures. Approximately two-thirds of seizures can be controlled with antiepileptic medications (Kwan 2000). For some of the others, surgery can completely eliminate or significantly reduce the occurrence of disabling seizures. Localization of epileptogenic areas for resective surgery is far from perfect, and new tools are being investigated to more accurately localize the epileptogenic zone (the zone of the brain where the seizures begin) and improve the likelihood of freedom from postsurgical seizures. Recordings of pathological high-frequency oscillations (HFOs) may be one such tool. To assess the ability of HFOs to improve the outcomes of epilepsy surgery by helping to identify more accurately the epileptogenic areas of the brain. For the latest update, we searched the Cochrane Epilepsy Group Specialized Register (25 July 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 25 July 2016), MEDLINE (Ovid, 1946 to 25 July 2016), CINAHL Plus (EBSCOhost, 25 July 2016), Web of Science (Thomson Reuters, 25 July 2016), ClinicalTrials.gov (25 July 2016), and the World Health Organization International Clinical Trials Registry Platform ICTRP (25 July 2016). We included studies that provided information on the outcomes of epilepsy surgery for at least six months and which used high-frequency oscillations in making decisions about epilepsy surgery. The primary outcome of the review was the Engel Class Outcome System (class I = no disabling seizures, II = rare disabling seizures, III = worthwhile improvement, IV = no worthwhile improvement). Secondary outcomes were responder rate, International League Against Epilepsy (ILAE) epilepsy surgery outcome, frequency of adverse events from any source and quality of life outcomes. We intended to analyse outcomes via an aggregated data fixed-effect model meta-analysis. Two studies representing

Learning disorders in children with epilepsy.

Science.gov (United States)

Pavlou, Evangelos; Gkampeta, Anastasia

2011-03-01

Learning Disorders (LD) are defined as disorders that interfere with academic performance or with daily activities that require reading, writing or mathematical skills in subjects with a normal intelligence quotient (IQ). The prevalence of LD in the general population has been found to be 2-10%, and reading disorders are the most frequent subtype. Epilepsy is one of the most common serious neurological disorders in childhood. LD are more common in children with epilepsy than in the general population. As a consequence, the risk of cognitive impairment in children with epilepsy is high, and a review of the literature needs to be fully presented. Narrative review including articles regarding LD in children with various epileptic syndromes published in the international medical literature. LD are more frequent among children with epilepsy. The etiology is multifactorial, being affected by the type of epileptic syndrome, the age of onset and the antiepileptic treatment being selected. LD can be either permanent or state-dependent. Each category has different treatment protocols and prognosis. Despite the fact that the findings of the studies discussed in our article support the evidence that epilepsy in childhood impairs the cognitive function, we should not underestimate the role of demographic and psychosocial factors on academic performance of children with epilepsy. Despite the high prevalence of LD, a healthy family and school environment can help reduce its impact on the patient's quality of life. © Springer-Verlag 2010

Epilepsy, cognition, and neuropsychiatry (Epilepsy, Brain, and Mind, part 2)

Czech Academy of Sciences Publication Activity Database

Korczyn, A.D.; Schachter, S.C.; Brodie, M.J.; Dalal, S.S.; Engel Jr., J.; Guekht, A.; Hecimovic, H.; Jerbi, K.; Kanner, A.M.; Landmark, C.J.; Mareš, Pavel; Marusič, P.; Meletti, S.; Mula, M.; Patsalos, P. N.; Reuber, M.; Ryvlin, P.; Štillová, K.; Tuchman, R.; Rektor, I.

2013-01-01

Roč. 28, č. 2 (2013), s. 283-302 ISSN 1525-5050 R&D Projects: GA MŠk(CZ) LC554; GA ČR(CZ) GAP304/10/1274 Institutional support: RVO:67985823 Keywords : epilepsy * psychiatry * clinical studies * experimental models Subject RIV: FH - Neurology Impact factor: 2.061, year: 2013

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

DEFF Research Database (Denmark)

Berryer, Martin H; Hamdan, Fadi F; Klitten, Laura L

2013-01-01

De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID...... also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild-type SYNGAP1 in pyramidal cells from cortical...

Conceptualising Lennox-Gastaut Syndrome as a secondary network epilepsy

Directory of Open Access Journals (Sweden)

John S ARCHER

2014-10-01

Full Text Available Lennox-Gastaut Syndrome (LGS is a category of severe, disabling epilepsy, characterised by frequent, treatment-resistant seizures and cognitive impairment. EEG (electroencephalography shows characteristic generalised epileptic activity that is similar in those with lesional, genetic or unknown causes, suggesting a common underlying mechanism. The condition typically begins in young children, leaving many severely disabled with recurring seizures throughout their adult life.Scalp EEG of the tonic seizures of LGS is characterised by a diffuse high voltage slow transient evolving into generalised low voltage fast activity, likely reflecting sustained fast neuronal firing over a wide cortical area. The typical interictal discharges (runs of slow spike-and-wave (SSW and bursts of generalised paroxysmal fast activity (GPFA also have a ‘generalised’ electrical field, suggesting widespread cortical involvement. Recent brain mapping studies have begun to reveal which cortical and subcortical regions are active during these ‘generalised’ discharges.In this critical review we examine findings from neuroimaging studies of LGS and place these in the context of the electrical and clinical features of the syndrome. We suggest that LGS can be conceptualised as a ‘secondary network epilepsy’, where the epileptic activity is expressed through large-scale brain networks, particularly the attention and default-mode networks. Cortical lesions, when present, appear to chronically interact with these networks to produce network instability rather than triggering each individual epileptic discharge. LGS can be considered a ‘secondary’ network epilepsy because the epileptic manifestations of the disorder reflect the networks being driven, rather than the specific initiating process.

Idiopathic epileptic syndromes and cognition.

Science.gov (United States)

Hommet, Caroline; Sauerwein, Hannelore C; De Toffol, Bertrand; Lassonde, Maryse

2006-01-01

Epilepsy is frequently associated with cognitive impairments which result from various interacting factors. The present paper deals with the contribution of neuropsychology to the characterization of the type of epilepsy and the possible mechanisms underlying idiopathic epileptic syndromes. The non-lesional, so-called idiopathic epilepsies, constitute an interesting model for assessing the relationship between epileptiform EEG discharges and cognition. Among the idiopathic generalized epilepsies, disorders of social integration and personality have been frequently reported in juvenile myoclonic epilepsy (JME). Since similar disturbances are observed in frontal-lobe-lesioned patients, impairments in other frontal lobe functions (e.g. executive functions) might be expected in JME. This gives rise to speculation about the possible underlying pathophysiological mechanisms in JME. With regard to partial idiopathic epilepsies, benign childhood epilepsy with centrotemporal spikes (BCECTS) may provide a useful model for the study of the relationship between epileptiform EEG discharges in the peri-sylvian region and language functions. Furthermore, the description of mild cognitive dysfunctions in BCECTS, and their persistence into adulthood, can provide information about compensatory mechanisms and may allow for the generation of remedial strategies. Thus, 'lesional' neuropsychology has given way to 'dynamic' neuropsychology based on specific postulates. By using the cognitive profile to specify the mechanism underlying the behavioral disturbances observed in different types of epilepsy, neuropsychology may eventually contribute to a revision of the present classification of epileptic syndromes. In addition, the neuropsychological data may help predict the extent and limits of functional recovery and cerebral plasticity.

WONOEP appraisal: Biomarkers of epilepsy-associated comorbidities.

Science.gov (United States)

Ravizza, Teresa; Onat, Filiz Y; Brooks-Kayal, Amy R; Depaulis, Antoine; Galanopoulou, Aristea S; Mazarati, Andrey; Numis, Adam L; Sankar, Raman; Friedman, Alon

2017-03-01

Neurologic and psychiatric comorbidities are common in patients with epilepsy. Diagnostic, predictive, and pharmacodynamic biomarkers of such comorbidities do not exist. They may share pathogenetic mechanisms with epileptogenesis/ictogenesis, and as such are an unmet clinical need. The objectives of the subgroup on biomarkers of comorbidities at the XIII Workshop on the Neurobiology of Epilepsy (WONOEP) were to present the state-of-the-art recent research findings in the field that highlighting potential biomarkers for comorbidities in epilepsy. We review recent progress in the field, including molecular, imaging, and genetic biomarkers of comorbidities as discussed during the WONOEP meeting on August 31-September 4, 2015, in Heybeliada Island (Istanbul, Turkey). We further highlight new directions and concepts from studies on comorbidities and potential new biomarkers for the prediction, diagnosis, and treatment of epilepsy-associated comorbidities. The activation of various molecular signaling pathways such as the "Janus Kinase/Signal Transducer and Activator of Transcription," "mammalian Target of Rapamycin," and oxidative stress have been shown to correlate with the presence and severity of subsequent cognitive abnormalities. Furthermore, dysfunction in serotonergic transmission, hyperactivity of the hypothalamic-pituitary-adrenocortical axis, the role of the inflammatory cytokines, and the contributions of genetic factors have all recently been regarded as relevant for understanding epilepsy-associated depression and cognitive deficits. Recent evidence supports the utility of imaging studies as potential biomarkers. The role of such biomarker may be far beyond the diagnosis of comorbidities, as accumulating clinical data indicate that comorbidities can predict epilepsy outcomes. Future research is required to reveal whether molecular changes in specific signaling pathways or advanced imaging techniques could be detected in the clinical settings and correlate

Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.

Science.gov (United States)

Bender, H Allison; Zaroff, Charles M; Karantzoulis, Stella; Nakhutina, Luba; MacAllister, William S; Luciano, Daniel

2011-01-01

The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS.

Disability and recovery in schizophrenia: a systematic review of cognitive behavioral therapy interventions

OpenAIRE

Nowak, Izabela; Sabariego, Carla; ?witaj, Piotr; Anczewska, Marta

2016-01-01

Background Schizophrenia is a disabling disease that impacts all major life areas. There is a growing need for meeting the challenge of disability from a perspective that extends symptomatic reduction. Therefore, this study aimed to systematically review the extent to which traditional and ?third wave? cognitive ? behavioral (CBT) interventions address the whole scope of disabilities experienced by people with lived experience of schizophrenia using the WHO?s International Classification of F...

Diagnosing and Solving School Learning Disabilities in Epilepsy: Part 3--The Classroom

Science.gov (United States)

Mittan, Robert J.

2010-01-01

In many respects epilepsy is as much a social disorder as it is a physical one. With epilepsy's long human history, many misconceptions have grown around the disorder. Those misconceptions have taken on a life of their own. Mistaken ideas that epilepsy is some form of evil possession, that it is a form of mental illness, that people with epilepsy…

Cognitive Functioning in Temporal Lobe Epilepsy: A BOLD-fMRI Study.

Science.gov (United States)

Guo, Lili; Bai, Genji; Zhang, Hui; Lu, Daoyan; Zheng, Jiyong; Xu, Gang

2017-12-01

We aimed to analyze the association between resting-state functional magnetic resonance imaging (re-fMRI) and cognitive function (including language, executive, and memory functions) in temporal lobe epilepsy (TLE) patients, which will help to explore the mechanism of brain function in patients. 15 TLE patients and 15 non-TLE patients were recruited. All subjects underwent neuropsychological testing and memory functional evaluation. Changes in verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ), full intelligence quotient (FIQ), and memory quotient (MQ) were compared between two groups. Re-fMRI data were also collected from two groups to evaluate these changes. Each individual score of neuropsychological testing and memory functional evaluation were higher in control group, which was statistically different (all P temporal gyrus back, right superior temporal gyrus, left cerebellum, left angular gyrus, left wedge anterior lobe, and left central back; while the negatively activated brain regions were left prefrontal, right cerebellum, right corner back, and right anterior cingulate gyrus. During the language task, the activated brain regions of the TLE patients were right prefrontal lobe, the lateral temporal gyri, the left cerebellum, left cornu laterale gyrus, left precuneus, and the left postcentral gyrus, whereas the negatively activated brain areas were the left prefrontal cortex, the right cerebellum, right cornu laterale gyrus, and the right anterior cingulate gyrus. During the executive task, epilepsy patients showed activation difference in right prefrontal and right frontal lobe and right brain, left superior temporal gyrus, and right cerebellum anterior lobe compared with the control group; no negatively activated differences in brain areas. During the memory task, the difference lay in bilateral anterior cingulate gyrus and bilateral wedge anterior lobe while the negatively activated brain areas were the left inferior frontal

Epilepsy: General Information. Fact Sheet Number 6 = La Epilepsia: Informacion General. Fact Sheet Number 20.

Science.gov (United States)

Interstate Research Associates, McLean, VA.

This fact sheet on epilepsy is offered in both English and Spanish. It provides a definition, information on incidence, typical characteristics, and educational implications. It notes that epilepsy is classified as "other health impaired" under the Individuals with Disabilities Education Act and that students with epilepsy are eligible for special…

Cultural beliefs among people with epilepsy or physical impairment in Guinea-Bissau: Differences and similarities.

Science.gov (United States)

Otte, Willem M; Nhaga, Abu A; Tchuda, Domingos L; Abna, Binhansan; van der Maas, Frank

2013-12-01

People living with a disability in sub-Saharan Africa have poorer health outcomes, lower educational successes, less economic participation, and higher levels of poverty than people without disability. Disability-inclusive development promotes the involvement of people with disabilities in programs that reduce these inequalities. This requires a good understanding of how individuals with disability perceive their condition. In this study, we identified cultural beliefs among 31 individuals with epilepsy or physical impairment, known to a community-based rehabilitation service in Guinea-Bissau, using face-to-face interviews. We related these beliefs to religious background and type of disability. We found poor knowledge of and attitudes towards disability among persons with epilepsy and physical impairment. Cultural beliefs were significantly shaped by religious background. Islamic respondents were more positive about their disability as compared to Christians and traditional believers. A better understanding of cultural beliefs among people with disabilities may help to launch and adapt disability-inclusive community-based rehabilitation services. © 2013.

Genetic causes of congenital brain malformations in epilepsy patients

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre

2008-01-01

The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological va...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients.......The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...

Implementation of psychological clinical trials in epilepsy: Review and guide.

Science.gov (United States)

Modi, Avani C; Wagner, Janelle; Smith, Aimee W; Kellermann, Tanja S; Michaelis, Rosa

2017-09-01

The International League Against Epilepsy (ILAE) Neuropsychiatry commission and United States Institute of Medicine report both identified cognitive and psychological comorbidities as a significant issue for individuals with epilepsy, with rates as high as 60%. However, there is a paucity of evidence-based treatments for many psychological conditions (e.g., learning disorders, cognitive disorders, behavioral disorders). Because of inherent challenges in the implementation of psychological therapy trials and specific considerations for the population with epilepsy, the focus of the current review was to provide guidance and recommendations to conduct psychological trials for individuals with epilepsy. Several key areas will be discussed, including selection of patients, trial design, psychological intervention considerations, outcomes and evaluation of results, publication of trial results, and special issues related to pediatric clinical trials. Rigorously designed psychological therapy trials will set the stage for evidence-based practice in the care of individuals with epilepsy, with the goal of improving seizures, side effects, and HRQOL. Copyright © 2017 Elsevier Inc. All rights reserved.

The cognitive profile of occipital lobe epilepsy and the selective association of left temporal lobe hypometabolism with verbal memory impairment.

Science.gov (United States)

Knopman, Alex A; Wong, Chong H; Stevenson, Richard J; Homewood, Judi; Mohamed, Armin; Somerville, Ernest; Eberl, Stefan; Wen, Lingfeng; Fulham, Michael; Bleasel, Andrew F

2014-08-01

We investigated the cognitive profile of structural occipital lobe epilepsy (OLE) and whether verbal memory impairment is selectively associated with left temporal lobe hypometabolism on [18F]-fluorodeoxyglucose positron emission tomography (FDG-PET). Nine patients with OLE, ages 8-29 years, completed presurgical neuropsychological assessment. Composite measures were calculated for intelligence quotient (IQ), speed, attention, verbal memory, nonverbal memory, and executive functioning. In addition, the Wisconsin Card Sorting Test (WCST) was used as a specific measure of frontal lobe functioning. Presurgical FDG-PET was analyzed with statistical parametric mapping in 8 patients relative to 16 healthy volunteers. Mild impairments were evident for IQ, speed, attention, and executive functioning. Four patients demonstrated moderate or severe verbal memory impairment. Temporal lobe hypometabolism was found in seven of eight patients. Poorer verbal memory was associated with left temporal lobe hypometabolism (p = 0.002), which was stronger (p = 0.03 and p = 0.005, respectively) than the association of left temporal lobe hypometabolism with executive functioning or with performance on the WCST. OLE is associated with widespread cognitive comorbidity, suggesting cortical dysfunction beyond the occipital lobe. Verbal memory impairment is selectively associated with left temporal lobe hypometabolism in OLE, supporting a link between neuropsychological dysfunction and remote hypometabolism in focal epilepsy. Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

Understanding Death in Children With Epilepsy.

Science.gov (United States)

Donner, Elizabeth J; Camfield, Peter; Brooks, Linda; Buchhalter, Jeffrey; Camfield, Carol; Loddenkemper, Tobias; Wirrell, Elaine

2017-05-01

Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurological disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP). SUDEP is relatively uncommon in childhood, but the risk increases if epilepsy persists into adulthood. Although the direct cause of SUDEP remains unknown, most often death follows a generalized convulsive seizure and the risk of SUDEP is strongly related to drug-resistant epilepsy and frequent generalized tonic-clonic seizures. The most effective SUDEP prevention strategy is to reduce the frequency of seizures, although a number of seizure detection devices are under development and in the future may prove to be useful for seizure detection for those at particularly high risk. There are distinct benefits for health care professionals to discuss mortality with the family soon after the diagnosis of epilepsy. An individual approach is appropriate. When a child with epilepsy dies, particularly if the death was unexpected, family grief may be profound. Physicians and other health care professionals have a critical role in supporting families that lose a child to epilepsy. This review will provide health care providers with information needed to discuss the risk of death in children with epilepsy and support families following a loss. Copyright © 2017 Elsevier Inc. All rights reserved.

Postoperative seizure freedom does not normalize altered connectivity in temporal lobe epilepsy.

Science.gov (United States)

Maccotta, Luigi; Lopez, Mayra A; Adeyemo, Babatunde; Ances, Beau M; Day, Brian K; Eisenman, Lawrence N; Dowling, Joshua L; Leuthardt, Eric C; Schlaggar, Bradley L; Hogan, Robert Edward

2017-11-01

Specific changes in the functional connectivity of brain networks occur in patients with epilepsy. Yet whether such changes reflect a stable disease effect or one that is a function of active seizure burden remains unclear. Here, we longitudinally assessed the connectivity of canonical cognitive functional networks in patients with intractable temporal lobe epilepsy (TLE), both before and after patients underwent epilepsy surgery and achieved seizure freedom. Seventeen patients with intractable TLE who underwent epilepsy surgery with Engel class I outcome and 17 matched healthy controls took part in the study. The functional connectivity of a set of cognitive functional networks derived from typical cognitive tasks was assessed in patients, preoperatively and postoperatively, as well as in controls, using stringent methods of artifact reduction. Preoperatively, functional networks in TLE patients differed significantly from healthy controls, with differences that largely, but not exclusively, involved the default mode and temporal/auditory subnetworks. However, undergoing epilepsy surgery and achieving seizure freedom did not lead to significant changes in network connectivity, with postoperative functional network abnormalities closely mirroring the preoperative state. This result argues for a stable chronic effect of the disease on brain connectivity, with changes that are largely "burned in" by the time a patient with intractable TLE undergoes epilepsy surgery, which typically occurs years after the initial diagnosis. The result has potential implications for the treatment of intractable epilepsy, suggesting that delaying surgical intervention that may achieve seizure freedom may lead to functional network changes that are no longer reversible by the time of epilepsy surgery. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Non-verbal auditory cognition in patients with temporal epilepsy before and after anterior temporal lobectomy

Directory of Open Access Journals (Sweden)

Aurélie Bidet-Caulet

2009-11-01

Full Text Available For patients with pharmaco-resistant temporal epilepsy, unilateral anterior temporal lobectomy (ATL - i.e. the surgical resection of the hippocampus, the amygdala, the temporal pole and the most anterior part of the temporal gyri - is an efficient treatment. There is growing evidence that anterior regions of the temporal lobe are involved in the integration and short-term memorization of object-related sound properties. However, non-verbal auditory processing in patients with temporal lobe epilepsy (TLE has raised little attention. To assess non-verbal auditory cognition in patients with temporal epilepsy both before and after unilateral ATL, we developed a set of non-verbal auditory tests, including environmental sounds. We could evaluate auditory semantic identification, acoustic and object-related short-term memory, and sound extraction from a sound mixture. The performances of 26 TLE patients before and/or after ATL were compared to those of 18 healthy subjects. Patients before and after ATL were found to present with similar deficits in pitch retention, and in identification and short-term memorisation of environmental sounds, whereas not being impaired in basic acoustic processing compared to healthy subjects. It is most likely that the deficits observed before and after ATL are related to epileptic neuropathological processes. Therefore, in patients with drug-resistant TLE, ATL seems to significantly improve seizure control without producing additional auditory deficits.

Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder.

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Richard, Annie E; Scheffer, Ingrid E; Wilson, Sarah J

2017-04-01

Richard, A.E., I.E. Scheffer and S.J. Wilson. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2016. To inform on mechanisms underlying the comorbidity of epilepsy and autism spectrum disorder (ASD), we conducted meta-analyses to test whether impaired facial emotion recognition (FER) and theory of mind (ToM), key phenotypic traits of ASD, are more common in people with epilepsy (PWE) than controls. We contrasted these findings with those of relatives of individuals with ASD (ASD-relatives) compared to controls. Furthermore, we examined the relationship of demographic (age, IQ, sex) and epilepsy-related factors (epilepsy onset age, duration, seizure laterality and origin) to FER and ToM. Thirty-one eligible studies of PWE (including 1449 individuals: 77% with temporal lobe epilepsy), and 22 of ASD-relatives (N=1295) were identified by a systematic database search. Analyses revealed reduced FER and ToM in PWE compared to controls (p<0.001), but only reduced ToM in ASD-relatives (p<0.001). ToM was poorer in PWE than ASD-relatives. Only weak associations were found between FER and ToM and epilepsy-related factors. These findings suggest shared mechanisms between epilepsy and ASD, independent of intellectual disability. Copyright © 2017 Elsevier Ltd. All rights reserved.

Long-term socioeconomic consequences and health care costs of childhood and adolescent-onset epilepsy

DEFF Research Database (Denmark)

Jennum, Poul; Christensen, Jakob; Ibsen, Rikke

2016-01-01

. Income was lower from employment, which in part was compensated by social security, sick pay, disability pension and unemployment benefit, sick pay (public-funded), disability pension, and other public transfers. Predicted health care costs 30 years after epilepsy onset were significantly higher among......Objective: To estimate long-term socioeconomic consequences and health care costs of epilepsy with onset in childhood and adolescence. Methods: A historical prospective cohort study of Danish individuals with epilepsy, age up to 20 years at time of diagnosis between January 1981 and December 2012....... Information about marital status, parenthood, educational level, employment status, income, use of the health care system, and cost of medicine was obtained from nationwide administrative and health registers. Results: We identified 12,756 and 28,319 people with diagnosed with epilepsy, ages 0–5 and 6...

Non-cognitive Characteristics of Gifted Students With Learning Disabilities: An In-depth Systematic Review.

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Beckmann, Else; Minnaert, Alexander

2018-01-01

Gifted students who also have learning disabilities (G/LD) are often overlooked when students are assessed either for giftedness or specific learning disabilities. The cognitive and non-cognitive characteristics of these G/LD students are habitually discussed only briefly alongside identification and intervention issues and, beyond that, the relevance of non-cognitive characteristics is often left unconsidered. Accordingly, this study aims to conduct an in-depth review of the non-cognitive characteristics of these students for identification and intervention purposes. Detailed analysis was performed on 23 publications. High levels of negative emotions, low self-perception, and adverse interpersonal relationships, as well as high levels of motivation, coping skills and perseverance were found among these students. A common characteristic was a high degree of frustration with the academic situation. The study reveals that these students show considerably duality in their non-cognitive characteristics which requires tailored counseling skills to provide effective support for their learning needs.

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

NARCIS (Netherlands)

van Karnebeek, Clara D. M.; Tiebout, Sylvia A.; Niermeijer, Jikkemien; Poll-The, Bwee Tien; Ghani, Aisha; Coughlin, Curtis R.; van Hove, Johan L. K.; Richter, Jost Wigand; Christen, Hans Juergen; Gallagher, Renata; Hartmann, Hans; Stockler-Ipsiroglu, Sylvia

2016-01-01

Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in

Correlation of EEG with neuropsychological status in children with epilepsy.

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Hsu, David A; Rayer, Katherine; Jackson, Daren C; Stafstrom, Carl E; Hsu, Murielle; Ferrazzano, Peter A; Dabbs, Kevin; Worrell, Gregory A; Jones, Jana E; Hermann, Bruce P

2016-02-01

To determine correlations of the EEG frequency spectrum with neuropsychological status in children with idiopathic epilepsy. Forty-six children ages 8-18 years old with idiopathic epilepsy were retrospectively identified and analyzed for correlations between EEG spectra and neuropsychological status using multivariate linear regression. In addition, the theta/beta ratio, which has been suggested as a clinically useful EEG marker of attention-deficit hyperactivity disorder (ADHD), and an EEG spike count were calculated for each subject. Neuropsychological status was highly correlated with posterior alpha (8-15 Hz) EEG activity in a complex way, with both positive and negative correlations at lower and higher alpha frequency sub-bands for each cognitive task in a pattern that depends on the specific cognitive task. In addition, the theta/beta ratio was a specific but insensitive indicator of ADHD status in children with epilepsy; most children both with and without epilepsy have normal theta/beta ratios. The spike count showed no correlations with neuropsychological status. (1) The alpha rhythm may have at least two sub-bands which serve different purposes. (2) The theta/beta ratio is not a sensitive indicator of ADHD status in children with epilepsy. (3) The EEG frequency spectrum correlates more robustly with neuropsychological status than spike count analysis in children with idiopathic epilepsy. (1) The role of posterior alpha rhythms in cognition is complex and can be overlooked if EEG spectral resolution is too coarse or if neuropsychological status is assessed too narrowly. (2) ADHD in children with idiopathic epilepsy may involve different mechanisms from those in children without epilepsy. (3) Reliable correlations with neuropsychological status require longer EEG samples when using spike count analysis than when using frequency spectra. Copyright © 2015 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights

Mental health of children and adolescents with epilepsy: analysis of clinical and neuropsichological aspects

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Fernanda de Souza Moreira

2014-08-01

Full Text Available Epilepsy compromises the development of cognitive and social skills and represents a risk of psychiatric comorbidity. Objective: To compare psychopathological symptoms in children with epilepsy and in a healthy group, and to correlate the results with neuropsychological and clinical variables. Method: Forty five children with idiopathic epilepsy and sixty five healthy controls underwent neuropsychological evaluation and their caregivers replied to a psychopathology questionnaire (Child Behavior Checklist – CBCL. Results: There were significant differences in CBCL, with poorer results showed mainly by patients with epilepsy. There was no significant association between any psychopathological symptom and disease duration or amount of antiepileptic drugs used. There was positive correlation between intelligence quocient and CBCL on items such as sluggish cognitive tempo, aggressive behavior, attention problems and activities and a negative relation between academic achievement, conduct and rule-breaking behavior. Conclusion: Children with epilepsy had the worse results in the psychopathology evaluation. Certain psychopathological variables are related to the cognitive profile, with no relation to clinical variables.

Danish experience with paediatric epilepsy surgery

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Underbjerg, Ebba von Celsing; Hoei-Hansen, Christina E; Madsen, Flemming Find

2015-01-01

INTRODUCTION: Epilepsy surgery is increasingly used to treat children with medically intractable epilepsy. This study investigates the aetiology and seizure outcome in Danish children operated between 1996 and 2010. METHODS: Retrospectively collected data on structural magnetic resonance imaging...... (MRI) diagnoses, surgical procedures and seizure outcomes classified according to the Engel Classification were used. Changes over time grouped as 1996-2000, 2001-2005 and 2006-2010 were analysed. RESULTS: A total of 95 children underwent epilepsy surgery. Sixty-three operations were performed...... in Denmark and 50 abroad. In all, 14 children needed reoperation. The median follow-up period was four years. At the latest follow-up, Engel class I (indicating no disabling seizures) was found in 67% of the patients. Cortical dysplasia, mesial temporal sclerosis and tumour were the most common MRI findings...

Management of epilepsy in the elderly

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Juan José Poza

2007-01-01

Full Text Available Juan José PozaDepartment of Neurology, Hospital Donostia, San Sebastián, SpainAbstract: Epilepsy among the elderly is a frequently occurring pathology, differing in etiology, clinical presentation and prognosis from those of young people. In addition, beyond a certain age, physiological modifications are produced in the metabolism which alter the pharmacokinetics of antiepileptic drugs (AEDs, increasing the risk of pharmacological interactions, already greater in these patients due to the frequency of poly-pharmacy. Furthermore, elderly patients are particularly sensitive to certain secondary effects of AEDs, as for example, cognitive disturbances, osteoporosis or weight increase. Given that the efficacy of the major AEDs is a priori quite similar, and that the epilepsies occurring in this age-group generally have a good prognosis, the selection of an AED will depend more upon its pharmacokinetics and ability to induce certain secondary effects than on its efficacy. In this respect, levetiracetam and pregabalin, followed by oxcarbazepine and lamotrigine have the most favorable pharmocokinetical profile. Moreover, on the whole these drugs have very few cognitive effects, do not induce osteoporosis and, with the exception of pregabalin, do not affect weight, making them the first selection for use in the treatment of epilepsy in the elderly.Keywords: epilepsy, the elderly, antiepileptic drugs

The occurrence and characteristics of auras in a large epilepsy cohort

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Nakken, K O; Solaas, M H; Kjeldsen, M J

2009-01-01

= 1897) and 39% of those with active epilepsy (n = 765) had experienced an aura. Six percent reported more than one type. Non-specified auras were most frequently reported (35%), followed by somatosensory (11%) and vertiginous (11%). While the majority of those reporting auras (59%) had focal epilepsies...... is underestimated, especially in children and those with learning disabilities....

Autosomal dominant cortical tremor, myoclonus and epilepsy.

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Striano, Pasquale; Zara, Federico

2016-09-01

The term 'cortical tremor' was first introduced by Ikeda and colleagues to indicate a postural and action-induced shivering movement of the hands which mimics essential tremor, but presents with the electrophysiological findings of cortical reflex myoclonus. The association between autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME) was first recognized in Japanese families and is now increasingly reported worldwide, although it is described using different acronyms (BAFME, FAME, FEME, FCTE and others). The disease usually takes a benign course, although drug-resistant focal seizures or slight intellectual disability occur in some cases. Moreover, a worsening of cortical tremor and myoclonus is common in advanced age. Although not yet recognized by the International League Against Epilepsy (ILAE), this is a well-delineated epilepsy syndrome with remarkable features that clearly distinguishes it from other myoclonus epilepsies. Moreover, genetic studies of these families show heterogeneity and different susceptible chromosomal loci have been identified.

Factor Analytic Study of Cognitive Processing and Self Perception of Learning Disabilities among the Elementary Inclusive School Children

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Rijumol, K. C.; Thangarajathi, S.; Ananthasayanam, R.

2011-01-01

The present investigation was an attempt to explore the underlying construct of cognitive processing and self-perception of learning disabilities in elementary inclusive school children. A cognitive assessment test battery and self-perception of disabilities inventory was developed by the investigator and administered to 100 elementary sixth and…

Emerging new practices in technology to support independent community access for people with intellectual and cognitive disabilities.

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Stock, Steven E; Davies, Daniel K; Wehmeyer, Michael L; Lachapelle, Yves

2011-01-01

The concept of community access is a multidimensional term, which may involve issues related to physical access, knowledge and information, power and control, relationships and communications, advocacy, participation and quality of life [21]. This paper discusses historical and emerging practices and interventions related to physical access to community and community based information for individuals with cognitive disabilities such as intellectual disability, autism or traumatic brain injury. While much societal attention has been paid to features of independent community access for populations such as individuals with hearing, vision or physical disabilities, less attention has focused on independent community access for people with intellectual and other significant cognitive disabilities. Attitudes and actions by families and professional service communities are often mixed for some individuals in this population. The somewhat limited research base in these areas is explored, including a case study review and results from several promising feasibility studies. The paper concludes with comments concerning future prospects and recommendations for improving independent community access for persons with significant cognitive disabilities.

Effect of Neuroscience-Based Cognitive Skill Training on Growth of Cognitive Deficits Associated with Learning Disabilities in Children Grades 2-4

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Avtzon, Sarah Abitbol

2012-01-01

Working memory, executive functions, and cognitive processes associated with specific academic areas, are empirically identified as being the core underlying cognitive deficits in students with specific learning disabilities. Using Hebb's theory of neuroplasticity and the principle of automaticity as theoretical bases, this experimental study…

Vision, spatial cognition and intellectual disability.

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Giuliani, Fabienne; Schenk, Françoise

2015-02-01

Vision is the most synthetic sensory channel and it provides specific information about the relative position of distant landmarks during visual exploration. In this paper we propose that visual exploration, as assessed by the recording of eye movements, offers an original method to analyze spatial cognition and to reveal alternative adaptation strategies in people with intellectual disabilities (ID). Our general assumption is that eye movement exploration may simultaneously reveal whether, why, and how, compensatory strategies point to specific difficulties related to neurological symptoms. An understanding of these strategies will also help in the development of optimal rehabilitation procedures. Copyright © 2014 Elsevier Ltd. All rights reserved.

Driving to learn in a powered wheelchair: the process of learning joystick use in people with profound cognitive disabilities.

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Nilsson, Lisbeth; Eklund, Mona; Nyberg, Per; Thulesius, Hans

2011-01-01

The Driving to Learn project explored ways to help people with profound cognitive disabilities practice operating a joystick-operated powered wheelchair. The project used a grounded theory approach with constant comparative analysis and was carried out over 12 yr. The participants were 45 children and adults with profound cognitive disabilities. Reference groups included 17 typically developing infants and 64 participants with lesser degrees of cognitive disability. The data sources included video recordings, field notes, open interviews, and a rich mixture of literature. The findings that emerged yielded strategies for facilitating achievements, an 8-phase learning process, an assessment tool, and a grounded theory of deplateauing explaining the properties necessary for participants to exceed expected limitations and plateaus. Eight participants with profound cognitive disabilities reached goal-directed driving or higher. Participants were empowered by attaining increased control over tool use, improving their autonomy and quality of life.

Third International Congress on Epilepsy, Brain and Mind: Part 1.

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Korczyn, Amos D; Schachter, Steven C; Amlerova, Jana; Bialer, Meir; van Emde Boas, Walter; Brázdil, Milan; Brodtkorb, Eylert; Engel, Jerome; Gotman, Jean; Komárek, Vladmir; Leppik, Ilo E; Marusic, Petr; Meletti, Stefano; Metternich, Birgitta; Moulin, Chris J A; Muhlert, Nils; Mula, Marco; Nakken, Karl O; Picard, Fabienne; Schulze-Bonhage, Andreas; Theodore, William; Wolf, Peter; Zeman, Adam; Rektor, Ivan

2015-09-01

Epilepsy is both a disease of the brain and the mind. Here, we present the first of two papers with extended summaries of selected presentations of the Third International Congress on Epilepsy, Brain and Mind (April 3-5, 2014; Brno, Czech Republic). Epilepsy in history and the arts and its relationships with religion were discussed, as were overviews of epilepsy and relevant aspects of social cognition, handedness, accelerated forgetting and autobiographical amnesia, and large-scale brain networks. Copyright © 2015 Elsevier Inc. All rights reserved.

Epilepsy: A Spectrum Disorder

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Sirven, Joseph I.

2015-01-01

Epilepsy, a disorder of unprovoked seizures is a multifaceted disease affecting individuals of all ages with a particular predilection for the very young and old. In addition to seizures, many patients often report cognitive and psychiatric problems associated with both the seizures themselves and its therapy. Epilepsy has numerous etiologies both idiopathic and acquired with a wide range of therapeutic responses. Despite numerous treatments available to control repetitive seizures including medications, diets, immunotherapy, surgery, and neuromodulatory devices, a large percentage of patients continue to suffer the consequences of uncontrolled seizures, which include psychosocial stigma and death. PMID:26328931

A Preliminary Exploration of Uppercase Letter-Name Knowledge among Students with Significant Cognitive Disabilities

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Greer, Claire W.; Erickson, Karen A.

2018-01-01

There are several factors known to impact the alphabet knowledge of young children without disabilities. The impact of these factors on the alphabet knowledge of students with significant cognitive disabilities is unknown. The purpose of this preliminary investigation was to explore the impact of three factors that might influence uppercase…

Unpacking the Complexity of Planning with Persons with Cognitive Disability and Complex Support Needs

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Collings, Susan; Dew, Angela; Dowse, Leanne

2018-01-01

Background: Planners will engage with people with cognitive disability and complex support needs in the Australian National Disability Insurance Scheme, but the specific skills needed to build sustainable plans with this group are not yet known. Method: A qualitative study was conducted to explore the barriers and facilitators to planning with…

Potential implications of Luria's work for the neuropsychology of epilepsy and epilepsy surgery: A perspective for re-examination.

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Patrikelis, Panayiotis; Lucci, Giuliana; Siatouni, Anna; Verentzioti, Anastasia; Alexoudi, Athanasia; Gatzonis, Stylianos

2017-07-01

The pioneeristic work of Alexander Romanovic Luria into the field of human neuropsychology offered eminent contributions to clinical praxis by providing theory guided methods and instruments for the study of higher cortical functions. However, lots of this knowledge corpus either remains untranslated and thus inaccessible, or in some cases selectively overlooked by academic authorities and consequently not passed to the future generations of experts. Although Luria was not exclusively devoted to the study of epilepsy, his theories and clinical approaches actually penetrate the whole neuropathology spectrum. His holistic and systemic approach to the brain sounds nowadays more than opportune and consistent with the network approach of the modern neuroimaging era. As to epilepsy, the logic underlying the Lurian approach (cognitive functions organized into complex functional systems with intra- and/or inter-hemispheric distribution, as opposed to the modularistic view of the brain) seems consistent with our current knowledge in epileptology with respect to epileptic networks, as well as the modern construct of the functional deficit zone. These contributions seem to be highly promising for the neuropsychology of epilepsy and epilepsy surgery, since they provide clinicians with valuable methods and theories to assist them in the localization -and lateralization- of cognitive deficits. Consequently they are of great applicability in the context of the preoperative neuropsychological monitoring of patients candidates for epilepsy surgery, where neuropsychologist are called upon to provide surgeons with anatomical data. Copyright © 2017 Elsevier Inc. All rights reserved.

NDST1 missense mutations in autosomal recessive intellectual disability.

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Reuter, Miriam S; Musante, Luciana; Hu, Hao; Diederich, Stefan; Sticht, Heinrich; Ekici, Arif B; Uebe, Steffen; Wienker, Thomas F; Bartsch, Oliver; Zechner, Ulrich; Oppitz, Cornelia; Keleman, Krystyna; Jamra, Rami Abou; Najmabadi, Hossein; Schweiger, Susann; Reis, André; Kahrizi, Kimia

2014-11-01

NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in the clinical features, including both demonstrated and apparent intellectual disability, muscular hypotonia, epilepsy, and postnatal growth deficiency. Furthermore, in Drosophila, knockdown of sulfateless, the NDST ortholog, impairs long-term memory, highlighting its function in cognition. Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development. © 2014 Wiley Periodicals, Inc.

Cognitive and affective empathy among adolescent siblings of children with a physical disability.

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Perenc, Lidia; Pęczkowski, Ryszard

2018-01-01

This study is a continuation of research on possible psychosocial benefits resulting from exposure to sibling with disability present in the family system. The issue seems to be especially important in Poland because of growing number of children with a disability and inconsistent results of previously performed studies. The main aim of this study was to examine the differences in the intensity of cognitive and affective empathy in adolescents who either have or do not have siblings with physical disability. The authors hypothesized that the increased exposure to individual with disability should result in positive attitude towards such people and this tendency should be manifested in elevated empathy and compassion. The study was carried out between September and November 2016. To meet the goals set to the study, a sample of 292 students from public middle and high schools were assessed using self-report demographic questionnaire and measure of empathy (IRI). The participants were between 13 and 19 years old. Among them 128 had a disabled sibling (Group T) and 164 constituted a comparative group (Group C). Interpretation of results is based on descriptive statistics. Participants having a disabled sibling showed significantly higher scores related both to cognitive and affective empathy. Some significant differences were also noted in relation to participants' gender and age. Exposure to individuals with physical disability in family context may facilitate development of positive psychosocial traits including elevated empathy and compassion in nondisabled siblings. Data analysis also showed significantly greater empathic and altruistic tendencies in females that in males. Copyright © 2017 Elsevier Inc. All rights reserved.

Common comorbidity of epilepsy: a review of new progress

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YANG Xue

2012-10-01

Full Text Available A range of medical and neurologic disorders occurs more frequently in people with epilepsy than in the general population and constitutes somatic comorbidity. Common examples include migraine, depression, schizophrenia, attention-deficit hyperactivity disorder (ADHD, sleep disorder, cognitive damage, developmental abnormality and so on. There are more interesting clinical features in some special types of patients with benign epilepsy of childhood with centrotemporal spikes (BECT, temporal epilepsy and mitochondrial encephalomyopathy. The association between epilepsy and other conditions can be due to a variety of interacting genetic, biologic structural, functional, pharmacological and environmental factors. Co-existence of other disorders in a person with epilepsy can complicate diagnosis, induce adverse prognostic implications and attenuate health?related quality of life. Therefore, recognition and management of comorbidity of epilepsy may facilitate the treatment of epilepsy. In this article, we review recent pathophysiologic and clinical studies to elucidate the etiology, mechanisms, clinical characteristics, differential diagnosis and treatment of common comorbidity of epilepsy.

Comorbid visual and cognitive impairment: relationship with disability status and self-rated health among older Singaporeans.

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Whitson, Heather E; Malhotra, Rahul; Chan, Angelique; Matchar, David B; Østbye, Truls

2014-05-01

The objective of this study was to examine the prevalence and consequences of coexisting vision and cognitive impairments in an Asian population. Data were collected from 4508 community-dwelling Singaporeans aged 60 years and older. Cognition was assessed by the Short Portable Mental Status Questionnaire whereas vision, disability, and self-rated health (SRH) were determined by self-report. Vision impairment was present in 902 (18.5%) participants and cognitive impairment in 835 (13.6%), with 232 (3.5%) participants experiencing both impairments. Persons with the comorbidity experienced higher odds of disability than persons with either single impairment. The association of vision impairment with SRH was stronger among women (odds ratio [OR] = 6.79, 95% confidence interval [CI] = 4.64-9.92) than among men (OR = 1.71, 95% CI = 1.21-2.41). Concurrent cognitive and vision impairment is prevalent in older Singaporeans and is associated with high rates of disability. Gender differences in vision-dependent roles may affect the patient-perceived impact of this comorbidity. © 2012 APJPH.

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

DEFF Research Database (Denmark)

Granild Bie Mertz, Line; Christensen, Rikke; Vogel, Ida

2016-01-01

Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter. Aims: We investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic...... was present in 3/4 children with UBE3A mutation, and 4/5 with pUPD. Onset of epilepsy occurred earlier in deletion cases compared to pUPD or UBE3A mutations cases. Laughter-induced postural muscle tone loss occurred only among deletion cases. We found no differences in severity of epilepsy between children...... common in patients with AS, especially in patients with a deletion. Postural muscle tone loss and collapsing during outbursts of laughter were seen in patients with a deletion only. (C) 2016 Elsevier Ltd. All rights reserved....

The joint association of depression and cognitive function with severe disability among community-dwelling older adults in Finland, Poland and Spain.

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Olaya, Beatriz; Moneta, Maria Victoria; Koyanagi, Ai; Lara, Elvira; Miret, Marta; Ayuso-Mateos, José Luis; Chatterji, Somnath; Leonardi, Matilde; Koskinen, Seppo; Tobiasz-Adamczyk, Beata; Lobo, Antonio; Haro, Josep Maria

2016-04-01

To explore the joint association of depression and cognitive function with severe disability in nationally-representative samples of community-dwelling adults aged 50 years and older from Finland, Poland and Spain. Cross-sectional. Community-based. Population-based sample of 7987 non-institutionalized adults aged 50 and older. The outcome was severe disability, defined as ≥ 90th percentile of the 12-item version of the World Health Organization Disability Assessment Schedule (WHODAS 2.0). Past 12-month DSM-IV major depressive disorder was assessed with the depression module of the WHO Composite International Diagnostic Interview (CIDI). A global cognitive function score was obtained through neuropsychological tests. Product terms between depression and cognition were introduced in multivariable logistic regression models to test for interaction. Lower cognitive function and depression were both significantly associated with severe disability in all countries. A significant interaction was only found in Finland where the ORs (95% CIs) of depression for severe disability at the 25th (worse), 50th, and 75th (better) percentiles of cognitive function were 7.26 (4.28-12.32), 11.1 (6.7-18.38), and 17.56 (9.29-33.2), respectively. People with depression and cognitive decline are likely to benefit from the usual evidence-based treatments to reduce the burden of disability. However, in Finland, those with better cognitive function may benefit from more aggressive depression treatment. Future research is warranted to assess whether our results may be replicated.

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

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Poulat, Anne-Lise; Ville, Dorothée; de Bellescize, Julitta; André-Obadia, Nathalie; Cacciagli, Pierre; Milh, Mathieu; Villard, Laurent; Lesca, Gaetan

2015-03-01

Mutations in the TBC1D24 gene were first reported in an Italian family with a unique epileptic phenotype consisting of drug-responsive, early-onset idiopathic myoclonic seizures. Patients presented with isolated bilateral or focal myoclonia, which could evolve to long-lasting attacks without loss of consciousness, with a peculiar reflex component, and were associated with generalized tonic-clonic seizures. This entity was named "familial infantile myoclonic epilepsy" (FIME). More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-syndromic deafness, and DOORS syndrome. We report on the electro-clinical features of two brothers, born to first-cousin parents, affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography, lasting a few minutes to several hours, without loss of consciousness, which frequently evolved to generalized myoclonus or myoclonic status. Reflex myoclonia were noticed in one patient. Neurological outcome was marked by moderate intellectual disability. Despite the high frequency of seizures, repeated EEG recordings showed normal background rhythm and rare interictal spikes and waves. We found a homozygous missense mutation, c.457G>A/p.Glu153Lys, in the two affected brothers. This observation combined with recent data from the literature, suggest that mutations in TBCD24 cause a pathological continuum, with FIME at the "benign" end and severe drug-refractory epileptic encephalopathy on the severe end. Early-onset myoclonic epilepsy with focal and generalized myoclonic seizures is a common characteristic of this continuum. Copyright © 2015 Elsevier B.V. All rights reserved.

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.

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Andrade, Danielle M; Bassett, Anne S; Bercovici, Eduard; Borlot, Felippe; Bui, Esther; Camfield, Peter; Clozza, Guida Quaglia; Cohen, Eyal; Gofine, Timothy; Graves, Lisa; Greenaway, Jon; Guttman, Beverly; Guttman-Slater, Maya; Hassan, Ayman; Henze, Megan; Kaufman, Miriam; Lawless, Bernard; Lee, Hannah; Lindzon, Lezlee; Lomax, Lysa Boissé; McAndrews, Mary Pat; Menna-Dack, Dolly; Minassian, Berge A; Mulligan, Janice; Nabbout, Rima; Nejm, Tracy; Secco, Mary; Sellers, Laurene; Shapiro, Michelle; Slegr, Marie; Smith, Rosie; Szatmari, Peter; Tao, Leeping; Vogt, Anastasia; Whiting, Sharon; Carter Snead, O

2017-09-01

The transition from a pediatric to adult health care system is challenging for many youths with epilepsy and their families. Recently, the Ministry of Health and Long-Term Care of the Province of Ontario, Canada, created a transition working group (TWG) to develop recommendations for the transition process for patients with epilepsy in the Province of Ontario. Herein we present an executive summary of this work. The TWG was composed of a multidisciplinary group of pediatric and adult epileptologists, psychiatrists, and family doctors from academia and from the community; neurologists from the community; nurses and social workers from pediatric and adult epilepsy programs; adolescent medicine physician specialists; a team of physicians, nurses, and social workers dedicated to patients with complex care needs; a lawyer; an occupational therapist; representatives from community epilepsy agencies; patients with epilepsy; parents of patients with epilepsy and severe intellectual disability; and project managers. Three main areas were addressed: (1) Diagnosis and Management of Seizures; 2) Mental Health and Psychosocial Needs; and 3) Financial, Community, and Legal Supports. Although there are no systematic studies on the outcomes of transition programs, the impressions of the TWG are as follows. Teenagers at risk of poor transition should be identified early. The care coordination between pediatric and adult neurologists and other specialists should begin before the actual transfer. The transition period is the ideal time to rethink the diagnosis and repeat diagnostic testing where indicated (particularly genetic testing, which now can uncover more etiologies than when patients were initially evaluated many years ago). Some screening tests should be repeated after the move to the adult system. The seven steps proposed herein may facilitate transition, thereby promoting uninterrupted and adequate care for youth with epilepsy leaving the pediatric system. Wiley

Neuropsychological profile of patients with juvenile myoclonic epilepsy: a controlled study of 50 patients.

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Pascalicchio, Tatiana Frascareli; de Araujo Filho, Gerardo M; da Silva Noffs, Maria Helena; Lin, Katia; Caboclo, Luís Otávio S F; Vidal-Dourado, Marcos; Ferreira Guilhoto, Laura M F; Yacubian, Elza Márcia Targas

2007-03-01

The purpose of this study was to verify possible cognitive dysfunction in patients with juvenile myoclonic epilepsy (JME) and its relationship to factors related to epilepsy and schooling. Fifty subjects diagnosed with JME and 50 controls underwent neuropsychological assessment evaluating intellectual functions, attention, memory, executive functions, and language. The patients were further divided into two subgroups on the basis of educational level: 11 years of formal education. Participants diagnosed with JME scored significantly below age-, education-, and gender-matched controls on neuropsychological measures of attention, immediate verbal memory, mental flexibility, control of inhibition, working memory, processing speed, verbal delayed memory, visual delayed memory, naming, and verbal fluency. A positive correlation was observed between duration of epilepsy and cognitive decline. However, in the group of patients with >11 years of education, this correlation was not significant. In this series of patients with JME, neuropsychological evaluation suggests widespread cognitive dysfunction outside the limits of the frontal lobes. The duration of epilepsy correlated with cognitive decline, and patients with higher education manifested less progression of deficits.

A review of subjective impact measures for use with children and adolescents with epilepsy.

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Cowan, Justin; Baker, Gus A

2004-10-01

To evaluate measures of epilepsy-specific impact currently available for use with children and adolescents. The relative merits of the different measures are examined. Four published epilepsy-specific impact measures, the Epilepsy and Learning Disabilities Quality of Life Scale (ELDQOL), the Health-related Quality of Life in Children with Epilepsy (HRQoLCE); the Impact of Childhood Neurologic Disability Scale (ICND), the Quality of Life in Epilepsy Inventory for Adolescents (QOLIE-AD-48), and the Quality of Life for Children with Epilepsy (QOLCE) were reviewed. There exist several shortcomings with the available measures on various psychometric criteria with not one of the currently available measures reaching acceptable psychometric standards in terms of reliability and validity. Of note are the particular inadequacies in the validation of scale content; with there being no investigation of the existence of age or ability effects for the items in any of the questionnaires reviewed. There is a clear demand for a psychometrically robust measure of subjective impact of epilepsy for children and adolescents, which is applicable to a wide age and ability range. At present, the efforts of the Canadian Pediatric Epilepsy Network with the recent publication of a novel measure holds much promise for the future. It is advocated that further efforts are made to further establish the psychometric properties of these scales and for their integration within a comprehensive outcome model for use in the evaluation of clinical interventions.

Premature Mortality In Poor Health And Low Income Adults With Epilepsy

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Kaiboriboon, Kitti; Schiltz, Nicholas K.; Bakaki, Paul M.; Lhatoo, Samden D.; Koroukian, Siran M.

2014-01-01

SUMMARY Objective To examine mortality and causes of death (COD) in socioeconomically disadvantaged persons with epilepsy (PWE) in the US. Methods We performed a retrospective open cohort analysis using Ohio Medicaid claims data between 1992 and 2008 to assess mortality and COD in 68,785 adult Medicaid beneficiaries with epilepsy. Case fatality (CF), mortality rates (MRs), standardized mortality ratios (SMRs), and years of potential life lost (YPLL) were calculated. The SMRs were estimated to compare risk of death in PWE with that in the general Medicaid population with and without disabilities. Proportionate mortality ratios (PMRs), YPLLs, and SMRs for specific COD were also obtained. Results There were 12,630 deaths in PWE. CF was 18.4%, the age-race-sex adjusted MR was 18.6/1,000 person-years (95% CI, 18.3–18.9). The SMR was 1.8 (95% CI, 1.8 – 1.9) when compared to the general Medicaid population, and was 1.4 (95% CI, 1.3–1.6) when compared to those with disabilities. The average YPLL was 16.9 years (range, 1–47 years). Both epilepsy and comorbid conditions significantly contributed to premature mortality in PWE. Cardiovascular diseases, cancer, and unintentional injuries were the most common COD and account for a large proportion of YPLL. Deaths from epilepsy-related causes occurred in about 10% of the cases. Significance Socioeconomically deprived PWE, especially young adults, experience high mortality and die 17 years prematurely. The high mortality in Medicaid beneficiaries with epilepsy affirms that comorbid conditions and epilepsy play a crucial role in premature death. Management of comorbid conditions is, at a minimum, as important as epilepsy management, and therefore deserves more attention from physicians, particularly those who care for Medicaid individuals with epilepsy. PMID:25244361

Cognitive and behavioural therapy of voices for with patients intellectual disability: Two case reports

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Pernier Sophie

2007-08-01

Full Text Available Abstract Background Two case studies are presented to examine how cognitive behavioural therapy (CBT of auditory hallucinations can be fitted to mild and moderate intellectual disability. Methods A 38-year-old female patient with mild intellectual disability and a 44-year-old male patient with moderate intellectual disability, both suffering from persistent auditory hallucinations, were treated with CBT. Patients were assessed on beliefs about their voices and their inappropriate coping behaviour to them. The traditional CBT techniques were modified to reduce the emphasis placed on cognitive abilities. Verbal strategies were replaced by more concrete tasks using roleplaying, figurines and touch and feel experimentation. Results Both patients improved on selected variables. They both gradually managed to reduce the power they attributed to the voice after the introduction of the therapy, and maintained their progress at follow-up. Their inappropriate behaviour consecutive to the belief about voices diminished in both cases. Conclusion These two case studies illustrate the feasibility of CBT for psychotic symptoms with intellectually disabled people, but need to be confirmed by more stringent studies.

Epilepsy in Sweden: health care costs and loss of productivity--a register-based approach.

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Bolin, Kristian; Lundgren, Anders; Berggren, Fredrik; Källén, Kristina

2012-12-01

The objective was to estimate health care costs and productivity losses due to epilepsy in Sweden and to compare these estimates to previously published estimates. Register data on health care utilisation, pharmaceutical sales, permanent disability and mortality were used to calculate health care costs and costs that accrue due to productivity losses. By linkage of register information, we were able to distinguish pharmaceuticals prescribed against epilepsy from prescriptions that were prompted by other indications. The estimated total cost of epilepsy in Sweden in 2009 was 441 million, which corresponds to an annual per-patient cost of 8,275. Health care accounted for about 16% of the estimated total cost, and drug costs accounted for about 7% of the total cost. The estimated health care cost corresponded to about 0.2% of the total health care cost in Sweden in 2009. Indirect costs were estimated at 370 million, 84% of which was due to sickness absenteeism. Costs resulting from epilepsy-attributable premature deaths or permanent disability to work accounted for about 1% of the total indirect cost in Sweden in 2009. The per-patient cost of epilepsy is substantial. Thus, even though the prevalence of the illness is relatively small, the aggregated cost that epilepsy incurs on society is significant.

Integral intervention in a child with epilepsy and attention-deficit/hyperactivity disorder symptoms

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Agustín Ernesto Martínez González

2014-12-01

Full Text Available For several years, studies have investigated the appearance and prevalence of symptoms typical of Attention-Deficit/ Hyperactivity Disorder in children with epilepsy. Traditional intervention methods to treat Attention-Deficit/ Hyperactivity Disorder symptoms include pharmacology and psychological therapy in children and parents. The present study assessed cognitive processes in a child with epilepsy and Attention-Deficit/ Hyperactivity Disorder symptoms after one year of neuropsychological rehabilitation and cognitive-behavioural family therapy. The results show an improvement in cognitive processes such as attention, short-term and long-term verbal and non-verbal memory, and executive function. There was also a slight improvement among parents in their perception of hyperactivity and impulsivity symptoms. This study suggests that comprehensive intervention is a promising approach in children with epilepsy and Attention-Deficit/ Hyperactivity Disorder symptoms. Future studies should include a larger sample of patients with cognitive impairment and similar brain lesions.

Current position of phenobarbital in epilepsy and its future.

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Brodie, Martin J; Kwan, Patrick

2012-12-01

This article reviews the current position of phenobarbital using articles published since 2000 and speculates on its likely future contribution to epilepsy care. Over the last decade there have been no major double-blind randomized placebo-controlled or comparative trials with phenobarbital. Previous studies have suggested that phenobarbital is as effective in monotherapy as phenytoin and carbamazepine. Several observational studies undertaken in developing countries over the last decade have confirmed its efficacy and safety for the common epilepsies. This was particularly so in the substantial demonstration project undertaken in rural China under the auspices of the World Health Organization in partnership with the International League Against Epilepsy and International Bureau for Epilepsy. Phenobarbital is still widely used for neonatal and childhood seizures and for drug-resistant convulsive and nonconvulsive status epilepticus. Recent data have confirmed in a prospective cohort of women taking phenobarbital as monotherapy that the drug can be associated with a range of congenital defects in exposed infants. Much effort has gone into exploring the apparent contradiction of higher withdrawal rates due to cognitive and behavioral side effects in studies undertaken in developed countries but not in those sited in the developing world. A raft of data over the last 10 years, including a systematic review, showed no important differences between the tolerability of phenobarbital compared to that with other antiepileptic drugs. Finally, cognitive test scores and mood ratings in 136 people with epilepsy receiving phenobarbital for a year were similar to those in 137 age-, sex-, and education-matched controls in a number of Chinese villages. Indeed, there were some cognitive gains in the patients possibly due to improved seizure control. Phenobarbital is still the most cost-effective pharmacologic treatment for epilepsy. All these data predict a healthy future for

Epilepsy and Autism: Is there a special relationship?

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Berg, Anne T.; Plioplys, Sigita

2012-01-01

Increasingly, there has been an interest in the association between epilepsy and autism. The high frequency of autism in some of the early-onset developmental encephalopathic epilepsies is frequently cited as evidence of the relationship between autism and epilepsy. While these specific forms of epilepsy carry a higher than expected risk of autism, most if not all of the association may be due to intellectual disability (ID). The high prevalence of interictal EEG discharges in children with autism is also cited as further evidence although errors in the diagnosis of epilepsy seem to account for at least part of those findings. The prevalence of ID is substantially elevated in children with either epilepsy or autism. In the absence of ID, there is little evidence of a substantial, if any, increased risk of autism in children with epilepsy. Further, although the reported prevalence of autism has increased over the last several years, much of this increase may be attributable to changes in diagnostic practices, conceptualization of autism in the presence of ID, and laws requiring provision of services for children with autism. In the context of these temporal trends, any further efforts to tease apart the relationships between epilepsy, ID, and autism will have to address head-on the accuracy of diagnosis of all three conditions before we can determine whether there is indeed a special relationship between autism and epilepsy. PMID:22381386

A synthesis of mathematical and cognitive performances of students with mathematics learning disabilities.

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Shin, Mikyung; Bryant, Diane Pedrotty

2015-01-01

The purpose of this study was to synthesize the findings from 23 articles that compared the mathematical and cognitive performances of students with mathematics learning disabilities (LD) to (a) students with LD in mathematics and reading, (b) age- or grade-matched students with no LD, and (c) mathematical-ability-matched younger students with no LD. Overall results revealed that students with mathematics LD exhibited higher word problem-solving abilities and no significant group differences on working memory, long-term memory, and metacognition measures compared to students with LD in mathematics and reading. Findings also revealed students with mathematics LD demonstrated significantly lower performance compared to age- or grade-matched students with no LD on both mathematical and cognitive measures. Comparison between students with mathematics LD and younger students with no LD revealed mixed outcomes on mathematical measures and generally no significant group differences on cognitive measures. © Hammill Institute on Disabilities 2013.

Cognitive Predictors of Performance in Well-Trained Table Tennis Players With Intellectual Disability.

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Van Biesen, Debbie; Mactavish, Jennifer; Kerremans, Janne; Vanlandewijck, Yves C

2016-10-01

Evidence-based classification systems in Paralympic sport require knowledge of the underlying effect of impairment in a specific sport. This study investigated the relationship between cognition and tactical proficiency in 88 well-trained table tennis players with intellectual disability (ID; 29 women, 59 men, M ± SD IQ 59.9 ± 9.6). Data were collected at 3 competitions sanctioned by the International Federation for Para-Athletes with Intellectual Disabilities (INAS). A generic cognitive test consisting of 8 neuropsychological subtests was used to assess cognitive abilities relevant to sport (reaction time, processing speed, and decision speed; spatial visualization; fluid reasoning; memory; executive functioning; and visual processing). The backward stepwise-regression analysis model revealed that 18% of the variance in tactical proficiency was attributed to spatial visualization and simple reaction time. Applications of these findings resulted in an evidence-based classification system that led to the reinclusion of athletes with ID in Paralympic table tennis and provide the basis for future research in this important area.

How neuropsychology can improve the care of individual patients with epilepsy. Looking back and into the future.

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Helmstaedter, Christoph; Witt, Juri-Alexander

2017-01-01

Some of the roots of current clinical neuropsychology go back to the early days of epilepsy surgery. Looking back a huge number of publications have dealt with cognition in epilepsy. The major factors driving this work were questions relating to surgery, antiepileptic drugs and, more recently, also to underlying pathology. However, most factors affecting cognition in epilepsy have been discerned many years ago. The body of neuropsychological literature in this field has accumulated much knowledge, raising the question why, apart from epilepsy surgery settings, neuropsychology has still not been fully integrated in the routine care of patients with epilepsy. This review on the occasion of Seizure's 25th anniversary attempts to summarize clinically relevant diagnostic advances following a question guided, modular, and evidence-based approach. In doing so, we hope to attract the interest of readers to an exciting mode of assessment which does not only have theoretical but also practical relevance. The comorbidities of epilepsy are becoming an increasingly relevant topic. It is now widely accepted that, while epilepsy may be defined by the occurrence of epileptic seizures, these seizures represent only one of several possible sources of cognitive impairment. It is well-established that there are complex interactions between epilepsy, cognition and behavior, and that both seizures and problems with cognition or behavior may result from a common underlying pathology requiring treatment. With this review we aim to demonstrate that neuropsychology can make a highly valuable contribution to the care of individual patients by contributing to the diagnostic process and by serving as a tool for the monitoring of disease and treatment, thereby improving the quality and safety of patient care. On a national, European, and international level, first efforts are being made to homogenize diagnostics across epilepsy centers and countries in order to achieve a common language and

Evaluation of nutritional status in children with refractory epilepsy

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Testolin G

2006-04-01

Full Text Available Abstract Background children affected by refractory epilepsy could be at risk of malnutrition because of feeding difficulties (anorexia, chewing, swallowing difficulties or vomiting and chronic use of anticonvulsants, which may affect food intake and energy metabolism. Moreover, their energy requirement may be changed as their disabilities would impede normal daily activities. The aim of the present study was to evaluate nutritional status, energy metabolism and food intake in children with refractory epilepsy. Methods 17 children with refractory epilepsy (13 boys and 4 girls; mean age 9 ± 3,2 years; Body Mass Index 15,7 ± 3,6 underwent an anthropometric assessment, body composition evaluation by dual-energy X-ray absorptiometry, detailed dietetic survey and measurement of resting energy expenditure by indirect calorimetry. Weight-for-age, height-for-age (stunting and weight-for-height (wasting were estimated compared to those of a reference population of the same age. Results 40% of children were malnourished and 24% were wasted. The nutritional status was worse in the more disabled children. Dietary intake resulted unbalanced (18%, 39%, 43% of total daily energy intake derived respectively from protein, lipid and carbohydrate. Adequacy index [nutrient daily intake/recommended allowance (RDA × 100] was Conclusion many children with refractory epilepsy would benefit from individual nutritional assessment and management as part of their overall care.

Identity Development of Literacy Teachers of Adolescents with Significant Cognitive Disabilities

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Roberts, Carly A.

2013-01-01

This study employs the theory of identity development and figured worlds to investigate how historical and current education context, preservice and inservice teacher preparation, and school and classroom context influence the development of the literacy teaching identity of teachers of adolescents with significant cognitive disabilities. A…

Children with New-Onset Epilepsy: Neuropsychological Status and Brain Structure

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Hermann, Bruce; Jones, Jana; Sheth, Raj; Dow, Christian; Koehn, Monica; Seidenberg, Michael

2006-01-01

Abnormalities in cognition, academic performance and brain volumetrics have been reported in children with chronic epilepsy. The nature and degree to which these problems may be present at epilepsy onset or may instead become more evident over time remains to be determined. This study characterizes neuropsychological status, brain structure and…

Third International Congress on Epilepsy, Brain and Mind: Part 1

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Korczyn, Amos D.; Schachter, Steven C.; Amlerova, Jana; Bialer, Meir; van Emde Boas, Walter; Brázdil, Milan; Brodtkorb, Eylert; Engel, Jerome; Gotman, Jean; Komárek, Vladmir; Leppik, Ilo E.; Marusic, Petr; Meletti, Stefano; Metternich, Birgitta; Moulin, Chris J.A.; Muhlert, Nils; Mula, Marco; Nakken, Karl O.; Picard, Fabienne; Schulze-Bonhage, Andreas; Theodore, William; Wolf, Peter; Zeman, Adam; Rektor, Ivan

2017-01-01

Epilepsyis both a disease of the brain and the mind. Here, we present the first of two papers with extended summaries of selected presentations of the Third International Congress on Epilepsy, Brain and Mind (April 3–5, 2014; Brno, Czech Republic). Epilepsy in history and the arts and its relationships with religion were discussed, as were overviews of epilepsy and relevant aspects of social cognition, handedness, accelerated forgetting and autobiographical amnesia, and large-scale brain networks. PMID:26276417

Working Memory in Children With Learning Disabilities in Reading Versus Spelling: Searching for Overlapping and Specific Cognitive Factors.

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Brandenburg, Janin; Klesczewski, Julia; Fischbach, Anne; Schuchardt, Kirsten; Büttner, Gerhard; Hasselhorn, Marcus

2015-01-01

In transparent orthographies like German, isolated learning disabilities in either reading or spelling are common and occur as often as a combined reading and spelling disability. However, most issues surrounding the cognitive causes of these isolated or combined literacy difficulties are yet unresolved. Recently, working memory dysfunctions have been demonstrated to be promising in explaining the emergence of literacy difficulties. Thus, we applied a 2 (reading disability: yes vs. no) × 2 (spelling disability: yes vs. no) factorial design to examine distinct and overlapping working memory profiles associated with learning disabilities in reading versus spelling. Working memory was assessed in 204 third graders, and multivariate analyses of variance were conducted for each working memory component. Children with spelling disability suffered from more pronounced phonological loop impairments than those with reading disability. In contrast, domain-general central-executive dysfunctions were solely associated with reading disability, but not with spelling disability. Concerning the visuospatial sketchpad, no impairments were found. In sum, children with reading disability and those with spelling disability seem to be characterized by different working memory profiles. Thus, it is important to take both reading and spelling into account when investigating cognitive factors of literacy difficulties in transparent orthographies. © Hammill Institute on Disabilities 2014.

Family burden, child disability, and the adjustment of mothers caring for children with epilepsy: Role of social support and coping.

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Carlson, Jeffrey M; Miller, Paul A

2017-03-01

This study was designed to contribute to the existing research on the coping behaviors, social support, and mental health outcomes in parents of children with epilepsy in the United States. Participants included 152, predominantly Caucasian (89.5%), married (78.9%) women (95.4%). Via a web-based interface, mothers completed questionnaires assessing the impact of their child's disability on their family (i.e., severity of their child's disability, family burden, and personal stress), social resources (i.e., perceived social support), coping (i.e., emotion-focused and social support seeking), and adjustment (i.e., depression and anxiety). After controlling for demographic variables, mediational analysis revealed that mothers' perceptions of the severity of their child's disability were associated with decreased perceived social support, which was then related to higher reported levels of depression and anxiety. Similarly, low levels of perceived social support partially mediated the relation between family burden and depression, anxiety, and stress. Finally, mothers' perceptions of the severity of their children's disability and family burden were unrelated to their reports of emotion-focused or social support seeking coping. However, their use of emotion-focused and social support seeking behaviors was related to lower levels of depression. Low levels of perceived social support may help to explain the mechanisms underlying the relation between mothers' perceptions of the severity of their child's disability and family burden on their mental health adjustment, such as depression and anxiety. Copyright © 2017 Elsevier Inc. All rights reserved.

Reliable Change Indices and Standardized Regression-Based Change Score Norms for Evaluating Neuropsychological Change in Children with Epilepsy

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Busch, Robyn M.; Lineweaver, Tara T.; Ferguson, Lisa; Haut, Jennifer S.

2015-01-01

Reliable change index scores (RCIs) and standardized regression-based change score norms (SRBs) permit evaluation of meaningful changes in test scores following treatment interventions, like epilepsy surgery, while accounting for test-retest reliability, practice effects, score fluctuations due to error, and relevant clinical and demographic factors. Although these methods are frequently used to assess cognitive change after epilepsy surgery in adults, they have not been widely applied to examine cognitive change in children with epilepsy. The goal of the current study was to develop RCIs and SRBs for use in children with epilepsy. Sixty-three children with epilepsy (age range 6–16; M=10.19, SD=2.58) underwent comprehensive neuropsychological evaluations at two time points an average of 12 months apart. Practice adjusted RCIs and SRBs were calculated for all cognitive measures in the battery. Practice effects were quite variable across the neuropsychological measures, with the greatest differences observed among older children, particularly on the Children’s Memory Scale and Wisconsin Card Sorting Test. There was also notable variability in test-retest reliabilities across measures in the battery, with coefficients ranging from 0.14 to 0.92. RCIs and SRBs for use in assessing meaningful cognitive change in children following epilepsy surgery are provided for measures with reliability coefficients above 0.50. This is the first study to provide RCIs and SRBs for a comprehensive neuropsychological battery based on a large sample of children with epilepsy. Tables to aid in evaluating cognitive changes in children who have undergone epilepsy surgery are provided for clinical use. An excel sheet to perform all relevant calculations is also available to interested clinicians or researchers. PMID:26043163

Academic Supports, Cognitive Disability and Mathematics Acheivement for Visually Imparied Youth: A Multilevel Modeling Approach

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Giesen, J. Martin; Cavenaugh, Brenda S.; McDonnall, Michele Capella

2012-01-01

Elementary and middle school students who are blind or visually impaired (VI) lag up to three years behind non-disabled peers in mathematics achievement. We investigated the impact of academic supports in the school on mathematics achievement, controlling grade, gender, cognitive disability, and family SES. Data were from SEELS (Special Education…

Distinctive Structural and Effective Connectivity Changes of Semantic Cognition Network across Left and Right Mesial Temporal Lobe Epilepsy Patients

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Xiaotong Fan

2016-01-01

Full Text Available Occurrence of language impairment in mesial temporal lobe epilepsy (mTLE patients is common and left mTLE patients always exhibit a primary problem with access to names. To explore different neuropsychological profiles between left and right mTLE patients, the study investigated both structural and effective functional connectivity changes within the semantic cognition network between these two groups and those from normal controls. We found that gray matter atrophy of left mTLE patients was more severe than that of right mTLE patients in the whole brain and especially within the semantic cognition network in their contralateral hemisphere. It suggested that seizure attacks were rather targeted than random for patients with hippocampal sclerosis (HS in the dominant hemisphere. Functional connectivity analysis during resting state fMRI revealed that subregions of the anterior temporal lobe (ATL in the left HS patients were no longer effectively connected. Further, we found that, unlike in right HS patients, increased causal linking between ipsilateral regions in the left HS epilepsy patients cannot make up for their decreased contralateral interaction. It suggested that weakened contralateral connection and disrupted effective interaction between subregions of the unitary, transmodal hub of the ATL may be the primary cause of anomia in the left HS patients.

Distinctive Structural and Effective Connectivity Changes of Semantic Cognition Network across Left and Right Mesial Temporal Lobe Epilepsy Patients

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Fan, Xiaotong; Shang, Kun; Wang, Xiaocui; Wang, Peipei; Shan, Yongzhi; Lu, Jie

2016-01-01

Occurrence of language impairment in mesial temporal lobe epilepsy (mTLE) patients is common and left mTLE patients always exhibit a primary problem with access to names. To explore different neuropsychological profiles between left and right mTLE patients, the study investigated both structural and effective functional connectivity changes within the semantic cognition network between these two groups and those from normal controls. We found that gray matter atrophy of left mTLE patients was more severe than that of right mTLE patients in the whole brain and especially within the semantic cognition network in their contralateral hemisphere. It suggested that seizure attacks were rather targeted than random for patients with hippocampal sclerosis (HS) in the dominant hemisphere. Functional connectivity analysis during resting state fMRI revealed that subregions of the anterior temporal lobe (ATL) in the left HS patients were no longer effectively connected. Further, we found that, unlike in right HS patients, increased causal linking between ipsilateral regions in the left HS epilepsy patients cannot make up for their decreased contralateral interaction. It suggested that weakened contralateral connection and disrupted effective interaction between subregions of the unitary, transmodal hub of the ATL may be the primary cause of anomia in the left HS patients. PMID:28018680

Consequences of Learned Helplessness and Recognition of the State of Cognitive Exhaustion in Persons with Mild Intellectual Disability.

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Gacek, Michał; Smoleń, Tomasz; Pilecka, Władysława

2017-01-01

Persons with intellectual disability are a group at risk of being exposed to overly demanding problem-solving situations, which may produce learned helplessness . The research was based on the informational model of learned helplessness. The consequences of exposure to an unsolvable task and the ability to recognize the symptoms of cognitive exhaustion were tested in 120 students with mild intellectual disability. After the exposure to the unsolvable task, persons in the experimental group obtained lower results than the control group in the escape/avoidance learning task, but a similar result was found in the divergent thinking fluency task. Also, participants in the experimental group had difficulties recognizing the symptoms of the cognitive exhaustion state. After a week's time, the difference in escape/avoidance learning performance was still observed. The results indicate that exposure to unsolvable tasks may negatively influence the cognitive performance in persons with intellectual disability, although those persons may not identify the cognitive state related to lowered performance.

Ten-Year Research Update Review: Psychiatric Problems in Children with Epilepsy

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Plioplys, Sigita; Dunn, David W.; Caplan, Rochelle

2007-01-01

The research on epilepsy, a neuropsychiatric disorder characterized by seizures, psychopathology, cognitive, and linguistic problems among children in the age group of 0 to 18 years is reported. Early identification of children with epilepsy (CWE) and the development of multidisciplinary management strategies would advance relevant clinical…

A hopelessness model of depressive symptoms in youth with epilepsy.

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Wagner, Janelle L; Smith, Gigi; Ferguson, Pamela L; Horton, Stephanie; Wilson, Erin

2009-01-01

To test the cognitive diathesis-stress and mediational components of the theory of learned hopelessness in youth with epilepsy. Seventy-seven participants ages 9-17 (35 girls, 42 boys) completed measures of depressive symptoms, hopelessness, self-efficacy for seizure management, and attitude toward epilepsy. Caregivers provided information on seizure activity. Diagnostic and treatment information was obtained via medical record review. Regression analyses revealed that hopelessness mediated the attitude towards epilepsy-depressive symptom relationship. While attitude toward epilepsy and self-efficacy were independent predictors of depressive symptoms, the relationship of attitudes toward epilepsy and depressive symptoms was not enhanced with low self-efficacy for seizure management. Findings support the mediation component of the learned hopelessness theory in youth with epilepsy, suggesting the importance of interventions that assist youth in identifying epilepsy-related aspects of functioning over which they can realistically exercise control and challenging negative thoughts about situations they cannot control.

Synergistic effects of cognitive impairment on physical disability in all-cause mortality among men aged 80 years and over: Results from longitudinal older veterans study.

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Wan-Chen Yu

Full Text Available We evaluated effects of the interrelationship between physical disability and cognitive impairment on long-term mortality of men aged 80 years and older living in a retirement community in Taiwan.This prospective cohort study enrolled older men aged 80 and older living in a Veterans Care Home. Those with confirmed diagnosis of dementia were excluded. All participants received comprehensive geriatric assessment, including sociodemographic data, Charlson's Comorbidity Index (CCI, geriatric syndromes, activities of daily living (ADL using the Barthel index and cognitive function using the Mini-Mental State Examination (MMSE. Subjects were categorized into normal cognitive function, mild cognitive deterioration, and moderate-to-severe cognitive impairment and were further stratified by physical disability status. Kaplan-Meier log-rank test was used for survival analysis. After adjusting for sociodemographic characteristics and geriatric syndromes, Cox proportional hazards model was constructed to examine associations between cognitive function, disability and increased mortality risk.Among 305 male subjects aged 85.1 ± 4.1 years, 89 subjects died during follow-up (mean follow-up: 1.87 ± 0.90 years. Kaplan-Meier unadjusted analysis showed reduced survival probability associated with moderate-to-severe cognitive status and physical disability. Mortality risk increased significantly only for physically disabled subjects with simultaneous mild cognitive deterioration (adjusted HR 1.951, 95% CI 1.036-3.673, p = 0.038 or moderate-to-severe cognitive impairment (aHR 2.722, 95% CI 1.430-5.181, p = 0.002 after adjusting for age, BMI, education levels, smoking status, polypharmacy, visual and hearing impairment, urinary incontinence, fall history, depressive symptoms and CCI. Mortality risk was not increased among physically independent subjects with or without cognitive impairment, and physically disabled subjects with intact cognition.Physical disability

Synergistic effects of cognitive impairment on physical disability in all-cause mortality among men aged 80 years and over: Results from longitudinal older veterans study.

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Yu, Wan-Chen; Chou, Ming-Yueh; Peng, Li-Ning; Lin, Yu-Te; Liang, Chih-Kuang; Chen, Liang-Kung

2017-01-01

We evaluated effects of the interrelationship between physical disability and cognitive impairment on long-term mortality of men aged 80 years and older living in a retirement community in Taiwan. This prospective cohort study enrolled older men aged 80 and older living in a Veterans Care Home. Those with confirmed diagnosis of dementia were excluded. All participants received comprehensive geriatric assessment, including sociodemographic data, Charlson's Comorbidity Index (CCI), geriatric syndromes, activities of daily living (ADL) using the Barthel index and cognitive function using the Mini-Mental State Examination (MMSE). Subjects were categorized into normal cognitive function, mild cognitive deterioration, and moderate-to-severe cognitive impairment and were further stratified by physical disability status. Kaplan-Meier log-rank test was used for survival analysis. After adjusting for sociodemographic characteristics and geriatric syndromes, Cox proportional hazards model was constructed to examine associations between cognitive function, disability and increased mortality risk. Among 305 male subjects aged 85.1 ± 4.1 years, 89 subjects died during follow-up (mean follow-up: 1.87 ± 0.90 years). Kaplan-Meier unadjusted analysis showed reduced survival probability associated with moderate-to-severe cognitive status and physical disability. Mortality risk increased significantly only for physically disabled subjects with simultaneous mild cognitive deterioration (adjusted HR 1.951, 95% CI 1.036-3.673, p = 0.038) or moderate-to-severe cognitive impairment (aHR 2.722, 95% CI 1.430-5.181, p = 0.002) after adjusting for age, BMI, education levels, smoking status, polypharmacy, visual and hearing impairment, urinary incontinence, fall history, depressive symptoms and CCI. Mortality risk was not increased among physically independent subjects with or without cognitive impairment, and physically disabled subjects with intact cognition. Physical disability is a major

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

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Battini, R; Chieffo, D; Bulgheroni, S; Piccini, G; Pecini, C; Lucibello, S; Lenzi, S; Moriconi, F; Pane, M; Astrea, G; Baranello, G; Alfieri, P; Vicari, S; Riva, D; Cioni, G; Mercuri, E

2018-02-01

The aim of our prospective observational study was to assess profiles of cognitive function and a possible impairment of executive functions in a cohort of boys with Duchenne muscular dystrophy without intellectual and behavior disability. Forty Duchenne boys (range of age: 6 years to 11 years and 6 months) were assessed by Wechsler Intelligence scale and battery of tests including tasks assessing working memory and executive functions (inhibition and switching, problem solving and planning). In our cohort some aspects of cognitive function were often impaired. These included multitasking, problem solving, inhibition and working memory necessary to plan and direct goal oriented behavior. Our results support the suggestion that aspects of cognitive function could be impaired even in boys without intellectual disability and support the hypothesis that executive functions may play an important role in specific aspects of cognitive impairment in Duchenne muscular dystrophy. Copyright © 2017 Elsevier B.V. All rights reserved.

Importance of Video-EEG Monitoring in the Diagnosis of Epilepsy in a Psychiatric Patient

Directory of Open Access Journals (Sweden)

Batool F. Kirmani

2013-01-01

Full Text Available Epilepsy is a chronic medical condition which is disabling to both patients and caregivers. The differential diagnosis of epilepsy includes psychogenic nonepileptic spells or “pseudoseizures.” Epilepsy is due to abnormal electrical activity in the brain, and pseudoseizure is a form of conversion disorder. The brain waves remain normal in pseudoseizures. The problem arises when a patient with significant psychiatric history presents with seizures. Pseudoseizures become high on the differential diagnosis without extensive work up. This is a case of woman with significant psychiatric issues which resulted in a delay in the diagnosis of epilepsy.

Does bilingualism increase brain or cognitive reserve in patients with temporal lobe epilepsy?

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Reyes, Anny; Paul, Brianna M; Marshall, Anisa; Chang, Yu-Hsuan A; Bahrami, Naeim; Kansal, Leena; Iragui, Vicente J; Tecoma, Evelyn S; Gollan, Tamar H; McDonald, Carrie R

2018-05-01

Bilingual healthy adults have been shown to exhibit an advantage in executive functioning (EF) that is associated with microstructural changes in white matter (WM) networks. Patients with temporal lobe epilepsy (TLE) often show EF deficits that are associated with WM compromise. In this study, we investigate whether bilingualism can increase cognitive reserve and/or brain reserve in bilingual patients with TLE, mitigating EF impairment and WM compromise. Diffusion tensor imaging was obtained in 19 bilingual and 26 monolingual patients with TLE, 12 bilingual healthy controls (HC), and 21 monolingual HC. Fractional anisotropy (FA) and mean diffusivity (MD) were calculated for the uncinate fasciculus (Unc) and cingulum (Cing), superior frontostriatal tract (SFS), and inferior frontostriatal tract (IFS). Measures of EF included Trail Making Test-B (TMT-B) and Delis-Kaplan Executive Function System Color-Word Inhibition/Switching. Analyses of covariance were conducted to compare FA and MD of the Unc, Cing, SFS, and IFS and EF performance across groups. In bilingual patients, FA was lower in the ipsilateral Cing and Unc compared to all other groups. For both patient groups, MD of the ipsilateral Unc was higher relative to HC. Despite more pronounced reductions in WM integrity, bilingual patients performed similarly to monolingual TLE and both HC groups on EF measures. By contrast, monolingual patients performed worse than HC on TMT-B. In addition, differences in group means between bilingual and monolingual patients on TMT-B approached significance when controlling for the extent of WM damage (P = .071; d = 0.62), suggesting a tendency toward higher performance for bilingual patients. Despite poorer integrity of regional frontal lobe WM, bilingual patients performed similarly to monolingual patients and HC on EF measures. These findings align with studies suggesting that bilingualism may provide a protective factor for individuals with neurological disease, potentially

Idiopathic focal epilepsies: the "lost tribe".

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Pal, Deb K; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint-Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd A; Pisano, Tiziana; Rudolf, Gabrielle; Seegmuller, Caroline; Shibata, Takashi; Smith, Anna; Striano, Pasquale; Strug, Lisa J; Szepetowski, Pierre; Valeta, Thalia; Yoshinaga, Harumi; Koutroumanidis, Michalis

2016-09-01

The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The

Why do seizures occur when they do? Situations perceived to be associated with increased or decreased seizure likelihood in people with epilepsy and intellectual disability.

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Illingworth, Josephine L; Watson, Peter; Ring, Howard

2014-10-01

Seizure precipitants are commonly reported in the general population of people with epilepsy. However, there has been little research in this area in people with epilepsy and intellectual disability (ID). We conducted a survey of the situations associated with increased or decreased seizure likelihood in this population. The aim of the research was to identify situations of increased seizure likelihood (SISLs) and situations of decreased seizure likelihood (SDSLs) reported by carers of people with an ID and epilepsy. Three study groups were investigated: two groups comprising individuals with ID associated with a specific genetic diagnosis - Rett syndrome or fragile X syndrome - and one group consisting of individuals with a range of other etiologies. Responses relating to 100 people were received: 44 relating to people with Rett syndrome, 25 to people with fragile X syndrome, and 31 to people whose ID had some other etiologies. Ninety-eight percent of the respondents reported at least one SISL, and 60% reported at least one SDSL. Having more seizure types and greater seizure frequency were associated with a higher number of SISLs reported. The most commonly reported SISLs and SDSLs for each of the three groups are presented. The most common SISL overall was illness, which was reported as an SISL by 71% of the respondents. There was less consensus with regard to SDSLs. These findings provide a greater understanding of when seizures occur in those with ID and epilepsy, with possible implications for adjunctive behavioral management of seizures in those with treatment-refractory epilepsy. Copyright © 2014. Published by Elsevier Inc.

Myoclonic epilepsy in Down syndrome and Alzheimer disease.

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Aller-Alvarez, J S; Menéndez-González, M; Ribacoba-Montero, R; Salvado, M; Vega, V; Suárez-Moro, R; Sueiras, M; Toledo, M; Salas-Puig, J; Álvarez-Sabin, J

2017-03-01

Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS). This entity presents electroencephalogram features as generalized polyspike-wave discharges. We present a series of 11 patients with the diagnosis of DS or AD who developed myoclonic seizures or generalized tonic-clonic seizures. In all cases, clinical and neuroimaging studies and polygraph EEG monitoring was performed. In all cases, cognitive impairment progressed quickly after the onset of epilepsy causing an increase in the degree of dependence. The most common finding in the EEG was a slowing of brain activity with theta and delta rhythms, plus intercritical generalized polyspike-waves were objectified in eight patients. In neuroimaging studies was found cerebral cortical atrophy. The most effective drug in this series was the levetiracetam. The association of generalized epilepsy with elderly DS represents an epiphenomenon in evolution which is associated with a progressive deterioration of cognitive and motor functions. This epilepsy has some electroclinical characteristics and behaves as progressive myoclonic epilepsy, which is probably related to the structural changes that characterize the evolutionary similarity of DS with AD. Recognition of this syndrome is important, since it has prognostic implications and requires proper treatment. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Reliable change indices and standardized regression-based change score norms for evaluating neuropsychological change in children with epilepsy.

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Busch, Robyn M; Lineweaver, Tara T; Ferguson, Lisa; Haut, Jennifer S

2015-06-01

Reliable change indices (RCIs) and standardized regression-based (SRB) change score norms permit evaluation of meaningful changes in test scores following treatment interventions, like epilepsy surgery, while accounting for test-retest reliability, practice effects, score fluctuations due to error, and relevant clinical and demographic factors. Although these methods are frequently used to assess cognitive change after epilepsy surgery in adults, they have not been widely applied to examine cognitive change in children with epilepsy. The goal of the current study was to develop RCIs and SRB change score norms for use in children with epilepsy. Sixty-three children with epilepsy (age range: 6-16; M=10.19, SD=2.58) underwent comprehensive neuropsychological evaluations at two time points an average of 12 months apart. Practice effect-adjusted RCIs and SRB change score norms were calculated for all cognitive measures in the battery. Practice effects were quite variable across the neuropsychological measures, with the greatest differences observed among older children, particularly on the Children's Memory Scale and Wisconsin Card Sorting Test. There was also notable variability in test-retest reliabilities across measures in the battery, with coefficients ranging from 0.14 to 0.92. Reliable change indices and SRB change score norms for use in assessing meaningful cognitive change in children following epilepsy surgery are provided for measures with reliability coefficients above 0.50. This is the first study to provide RCIs and SRB change score norms for a comprehensive neuropsychological battery based on a large sample of children with epilepsy. Tables to aid in evaluating cognitive changes in children who have undergone epilepsy surgery are provided for clinical use. An Excel sheet to perform all relevant calculations is also available to interested clinicians or researchers. Copyright © 2015 Elsevier Inc. All rights reserved.

Helplessness and Resourcefulness in Coping with Epilepsy.

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Rosenbaum, Michael; Palmon, Noami

1984-01-01

Tested the hypothesis that psychological adjustment to epilepsy would be a joint function of subjects' (N=50) perceived repertoire of self-control skills and the extent to which they were exposed to uncontrollable seizures. Results showed that high-resourceful epileptics exposed to lower frequencies of seizures coped better with their disability.…

Weighing the value of memory loss in the surgical evaluation of left temporal lobe epilepsy: a decision analysis.

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Akama-Garren, Elliot H; Bianchi, Matt T; Leveroni, Catherine; Cole, Andrew J; Cash, Sydney S; Westover, M Brandon

2014-11-01

Anterior temporal lobectomy is curative for many patients with disabling medically refractory temporal lobe epilepsy, but carries an inherent risk of disabling verbal memory loss. Although accurate prediction of iatrogenic memory loss is becoming increasingly possible, it remains unclear how much weight such predictions should have in surgical decision making. Here we aim to create a framework that facilitates a systematic and integrated assessment of the relative risks and benefits of surgery versus medical management for patients with left temporal lobe epilepsy. We constructed a Markov decision model to evaluate the probabilistic outcomes and associated health utilities associated with choosing to undergo a left anterior temporal lobectomy versus continuing with medical management for patients with medically refractory left temporal lobe epilepsy. Three base-cases were considered, representing a spectrum of surgical candidates encountered in practice, with varying degrees of epilepsy-related disability and potential for decreased quality of life in response to post-surgical verbal memory deficits. For patients with moderately severe seizures and moderate risk of verbal memory loss, medical management was the preferred decision, with increased quality-adjusted life expectancy. However, the preferred choice was sensitive to clinically meaningful changes in several parameters, including quality of life impact of verbal memory decline, quality of life with seizures, mortality rate with medical management, probability of remission following surgery, and probability of remission with medical management. Our decision model suggests that for patients with left temporal lobe epilepsy, quantitative assessment of risk and benefit should guide recommendation of therapy. In particular, risk for and potential impact of verbal memory decline should be carefully weighed against the degree of disability conferred by continued seizures on a patient-by-patient basis. Wiley

Psychiatric comorbidity in children and youth with epilepsy: An association with executive dysfunction?

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Alfstad, Kristin Å; Torgersen, Halvor; Van Roy, Betty; Hessen, Erik; Hansen, Berit Hjelde; Henning, Oliver; Clench-Aas, Jocelyne; Mowinckel, Petter; Gjerstad, Leif; Lossius, Morten I

2016-03-01

Psychopathology in children and youth with epilepsy has previously been related to executive dysfunction, but the nature of the association is uncertain. We sought to explore risk factors for psychiatric disorders in children and youth with epilepsy, with emphasis on executive dysfunction, along with seizure-related and psychosocial factors. The cohort consisted of one hundred and one consecutive patients aged 10-19 years with focal (n=52) or genetic generalized (n=49) epilepsy. All were screened for psychiatric symptoms, using part of an extensive questionnaire, the Strengths and Difficulties Questionnaire (SDQ) for both patients and their parents. Participants scoring in the borderline or abnormal range on the SDQ received a psychiatric interview (Kiddie-SADS-PL). All participants underwent a neuropsychological examination, and those with general cognitive abilities (IQ)epilepsy-related or psychosocial factors were not significantly associated with psychiatric disorders. Multiple factors are associated with psychiatric problems in children and youth with epilepsy. In this study, executive dysfunction, male gender, and early epilepsy onset were independent risk factors for having a psychiatric disorder. An evaluation of psychiatric and cognitive problems is important to enable a positive long-term outcome in childhood epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

Sudden cardiac arrest in people with epilepsy in the community

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Lamberts, Robert J.; Blom, Marieke T.; Wassenaar, Merel; Bardai, Abdennasser; Leijten, Frans S.; de Haan, Gerrit-Jan; Sander, Josemir W.; Thijs, Roland D.

2015-01-01

Objective: To ascertain whether characteristics of ventricular tachycardia/fibrillation (VT/VF) differed between people with epilepsy and those without and which individuals with epilepsy were at highest risk. Methods: We ascertained 18 people with active epilepsy identified in a community-based registry of sudden cardiac arrest (SCA) with ECG-confirmed VT/VF (cases). We compared them with 470 individuals with VT/VF without epilepsy (VT/VF controls) and 54 individuals with epilepsy without VT/VF (epilepsy controls). Data on comorbidity, epilepsy severity, and medication use were collected and entered into (conditional) logistic regression models to identify determinants of VT/VF in epilepsy. Results: In most cases, there was an obvious (10/18) or presumed cardiovascular cause (5/18) in view of preexisting heart disease. In 2 of the 3 remaining events, near–sudden unexpected death in epilepsy (SUDEP) was established after successful resuscitation. Cases had a higher prevalence of congenital/inherited heart disease (17% vs 1%, p = 0.002), and experienced VT/VF at younger age (57 vs 64 years, p = 0.023) than VT/VF controls. VT/VF in cases occurred more frequently at/near home (89% vs 58%, p = 0.009), and was less frequently witnessed (72% vs 89%, p = 0.048) than in VT/VF controls. Cases more frequently had clinically relevant heart disease (50% vs 15%, p = 0.005) and intellectual disability (28% vs 1%, p epilepsy controls. Conclusion: Cardiovascular disease rather than epilepsy characteristics is the main determinant of VT/VF in people with epilepsy in the community. SCA and SUDEP are partially overlapping disease entities. PMID:26092917

Telemedicine for Epilepsy Support in Resource-poor Settings

Directory of Open Access Journals (Sweden)

Victor ePatterson

2014-08-01

Full Text Available The ProblemEpilepsy is a common disease worldwide causing significant physical and social. disability. It is one of the most treatable neurological diseases. Yet in rural, poorer countries like much of India and Nepal most people with epilepsy are not on any treatment often because they cannot access doctors. Conventional ApproachesIt is being appreciated that perhaps doctors are not the solution and that enabling health workers to treat epilepsy may be better. Few details however have been put forward about how that might be achieved.Thinking differentlyUntreated epilepsy should be considered a public health problem like HIV/AIDS, the various steps needed for treatment identified and solutions found. Telemedicine ApproachesTelemedicine might contribute to two steps - diagnosis and review. A tool which enables non-doctors to diagnose episodes as epileptic has been developed as a mobile phone app and has good applicability, sensitivity and specificity for the diagnosis. There are a number of ways in which the use of phone review or SMS can improve management.ConclusionsTelemedicine, as part of a public health program, can potentially help the millions of people in the resource-poor world with untreated epilepsy.

Quality of life after surgery for intractable partial epilepsy in children: a cohort study with controls.

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Mikati, Mohamad A; Ataya, Nour; Ferzli, Jessica; Kurdi, Rana; El-Banna, Diana; Rahi, Amal; Shamseddine, Alhan; Sinno, Durriyah; Comair, Youssef

2010-08-01

Investigate if quality of life (QOL) normalizes on long-term follow-up after surgery for partial epilepsy in children. This is a cohort study with controls in which a consecutive cohort of nineteen 2-14-year-old children who underwent focal resections for intractable partial seizures between 1996 and 2006, were matched with 19 non-surgery intractable partial epilepsy patients, and with 19 healthy subjects. The two epilepsy groups were matched for age, sex, socio-economic status (SES), cognitive level, seizure type, and seizure frequency. The healthy group was matched with the two epilepsy groups for age, sex, SES, and cognitive level. QOL was assessed using the QOLCE (Quality of Life in Childhood Epilepsy Questionnaire). In the surgery group (follow-up 3.84+/-2.26 years), 78.9% had Engel class-I versus 21.1% in non-surgery (p=0.01) (follow-up 3.44+/-2.95 years). Surgery patients were similar to healthy subjects in the social, emotional, cognitive, behavioral, and overall QOL (p>0.05) but had lower scores in the total QOL, physical, and health domains (p0.05, power>0.8). Our data indicate that epilepsy surgery for partial seizures in children is associated with better QOL as compared to children with intractable epilepsy who are not operated on, and suggest that in those who achieve seizure freedom normal QOL may at least potentially be possible.

Using Lego robots to estimate cognitive ability in children who have severe physical disabilities.

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Cook, Albert M; Adams, Kim; Volden, Joanne; Harbottle, Norma; Harbottle, Cheryl

2011-01-01

To determine whether low-cost robots provide a means by which children with severe disabilities can demonstrate understanding of cognitive concepts. Ten children, ages 4 to 10, diagnosed with cerebral palsy and related motor conditions, participated. Participants had widely variable motor, cognitive and receptive language skills, but all were non-speaking. A Lego Invention 'roverbot' was used to carry out a range of functional tasks from single-switch replay of pre-stored movements to total control of the movement in two dimensions. The level of sophistication achieved on hierarchically arranged play tasks was used to estimate cognitive skills. The 10 children performed at one of the six hierarchically arranged levels from 'no interaction' through 'simple cause and effect' to 'development and execution of a plan'. Teacher interviews revealed that children were interested in the robot, enjoyed interacting with it and demonstrated changes in behaviour and social and language skills following interaction. Children with severe physical disabilities can control a Lego robot to perform un-structured play tasks. In some cases, they were able to display more sophisticated cognitive skills through manipulating the robot than in traditional standardised tests. Success with the robot could be a proxy measure for children who have cognitive abilities but cannot demonstrate them in standard testing.

Pathology of Visual Memory in Patients with Epilepsy

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Reza Pourhosein

2016-12-01

Full Text Available Background: Epileptic seizures have destructive effects on the brain, because they intervene in healthy and normal brain processes, and create interference at different stages of memory and cause malfunction in its performance and function, especially in the early years of life. The purpose of this study was to investigate memory as one of the important areas of cognition in patients with epilepsy.Methods: In this causal-comparative study, the subjects consisted of 52 children of 8 to 14 years of age with epilepsy. Among them, 15, 16, and 15 patients had parietal lobe epilepsy, temporal lobe epilepsy, and frontal lobe epilepsy, respectively. The participants were selected among the patients referring to the clinic of a neurologist. Rey-Osterrieth complex figure (ROCF test was used to assess visual memory.Results: The visual memory scores in the epilepsy group were lower than the healthy group and the difference between the two groups was significant (t = 33.76, df = 103, P < 0.001. No significant difference was obtained between the three epilepsy groups in terms of visual memory scores (f = 1.6, df = 2, P < 0.212. In the present research, no significant difference was observed in visual memory between the three epilepsy groups.Conclusion: It can be concluded that patients with epilepsy have impaired visual memory.

Auditory verbal memory and psychosocial symptoms are related in children with idiopathic epilepsy.

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Schaffer, Yael; Ben Zeev, Bruria; Cohen, Roni; Shuper, Avinoam; Geva, Ronny

2015-07-01

Idiopathic epilepsies are considered to have relatively good prognoses and normal or near normal developmental outcomes. Nevertheless, accumulating studies demonstrate memory and psychosocial deficits in this population, and the prevalence, severity and relationships between these domains are still not well defined. We aimed to assess memory, psychosocial function, and the relationships between these two domains among children with idiopathic epilepsy syndromes using an extended neuropsychological battery and psychosocial questionnaires. Cognitive abilities, neuropsychological performance, and socioemotional behavior of 33 early adolescent children, diagnosed with idiopathic epilepsy, ages 9-14years, were assessed and compared with 27 age- and education-matched healthy controls. Compared to controls, patients with stabilized idiopathic epilepsy exhibited higher risks for short-term memory deficits (auditory verbal and visual) (pmemory deficits (plong-term memory deficits (pmemory deficits was related to severity of psychosocial symptoms among the children with epilepsy but not in the healthy controls. Results suggest that deficient auditory verbal memory may be compromising psychosocial functioning in children with idiopathic epilepsy, possibly underscoring that cognitive variables, such as auditory verbal memory, should be assessed and treated in this population to prevent secondary symptoms. Copyright © 2015 Elsevier Inc. All rights reserved.

Comorbidities and risk factors associated with newly diagnosed epilepsy in the U.S. pediatric population.

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Oh, Ahyuda; Thurman, David J; Kim, Hyunmi

2017-10-01

Neurobehavioral comorbidities can be related to underlying etiology of epilepsy, epilepsy itself, and adverse effects of antiepileptic drugs. We examined the relationship between neurobehavioral comorbidities and putative risk factors for epilepsy in children with newly diagnosed epilepsy. We conducted a retrospective analysis of children aged ≤18years in 50 states and the District of Columbia, using the Truven Health MarketScan® commercial claims and encounters database from January 1, 2009 to December 31, 2013. The eligible study cohort was continuously enrolled throughout 2013 as well as enrolled for any days during a baseline period of at least the prior 2years. Newly diagnosed cases of epilepsy were defined by International Classification of Diseases, Ninth Revision, Clinical Modification-coded diagnoses of epilepsy or recurrent seizures and evidence of prescribed antiepileptic drugs during 2013, when neither seizure codes nor seizure medication claims were recorded during baseline periods. Twelve neurobehavioral comorbidities and eleven putative risk factors for epilepsy were measured. More than 6 million children were analyzed (male, 51%; mean age, 8.8years). A total of 7654 children were identified as having newly diagnosed epilepsy (125 per 100,000, 99% CI=122-129). Neurobehavioral comorbidities were more prevalent in children with epilepsy than children without epilepsy (60%, 99% CI=58.1-61.0 vs. 23%, CI=23.1-23.2). Children with epilepsy were far more likely to have multiple comorbidities (36%, 99% CI=34.3-37.1) than those without epilepsy (8%, 99% CI=7.45-7.51, Pepilepsy were detected in 28% (99% CI=26.9-29.6) of children with epilepsy. After controlling for demographics, neurobehavioral comorbidities, family history of epilepsy, and other risk factors than primary interest, neonatal seizures had the strongest independent association with the development of epilepsy (OR=29.8, 99% CI=23.7-37.3, Pepilepsy, those with both epilepsy and risk factors were

SPECT and MRI in the diagnosis of epilepsy

International Nuclear Information System (INIS)

Gruenwald, F.; Biersack, H.J.; Bockisch, A.; Elger, C.E.; Durwen, H.F.; Penin, H.

1989-01-01

This study presents the results obtained using SPECT and MRI in epilepsy - mainly based on presurgical investigation in therapy-resistant cases of temporal lobe epilepsy. MRI was positive in 61% of 102 examined patients, SPECT was positive in 84%. In 46 patients with temporal lobe epilepsy subjected to partial temporal lobectomy was performed later on there was agreement of the results obtained with regard to the lateralisation in 74%. Although MRI, due to its sensitivity is superior to CT in diagnosis of epilepsy, CT should be performed in any case because some morphological changes - especially small arteriovenous malformations - are only seen in CT. MRI and SPECT should be considered as two complementary methods in epilepsy diagnosis, serving to evaluate morphology and function. A definite statement as to the predictive value of both methods remains to be made depending on a comparison of the results with the postoperative outcome referring to seizure frequency and cognitive function. (orig.) [de

Disclose or not? Effect of impression management tactics on hireability of persons with epilepsy.

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Sung, Connie; Lin, Chien-Chun; Connor, Annemarie; Chan, Fong

2017-01-01

The purpose of this study is to determine the effect of assertive impression management (IM) tactics, such as personal storytelling and self-promotion, on job interview outcomes of people with epilepsy. Specifically, the effect of IM on interviewers' subjective impressions and evaluation of hireability of job candidates with epilepsy were examined. Ninety-nine master's level graduate students majoring in business or human resources were randomly assigned to three experimental conditions to view one of three 15-min video clips of a job applicant interviewing for a technical computer sales position. The three experimental conditions were (1) job applicant who did not disclose any disability, (2) job applicant with epilepsy who did not use IM tactics, and (3) job applicant with epilepsy who used IM tactics. After watching the job interview video portraying the experimental conditions, participants were asked to rate the job applicant in terms of general impression and hireability for the described position. The use of IM was found to have a significant effect on job interview outcomes (p business/human resources students on both general impression and hireability for the job applicant with epilepsy and IM condition were significantly higher than for the job applicant with epilepsy who did not use IM condition. Furthermore, mediation analysis revealed that general impression is a mediator for the relationship between IM and interview outcomes. This study demonstrates that IM has a significant and positive effect on job interview outcomes for persons with epilepsy. IM can be used as a powerful strategy for empowering people with epilepsy to combat disability stigma, and offset negative perceptions of employers about the potential of this population to be productive workers. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

Intellectual Disabilities and Neglectful Parenting: Preliminary Findings on the Role of Cognition in Parenting Risk

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Azar, Sandra T.; Stevenson, Michael T.; Johnson, David R.

2012-01-01

Parents with intellectual disabilities (PID) are overrepresented in the child protective services (CPS) system. This study examined a more nuanced view of the role of cognition in parenting risk. Its goal was to validate a social information processing (SIP) model of child neglect that draws on social cognition research and advances in…

A Population-Based Study of Long-term Outcomes of Cryptogenic Focal Epilepsy in Childhood: Cryptogenic Epilepsy is NOT Probably Symptomatic Epilepsy

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Wirrell, Elaine C; Grossardt, Brandon R; So, Elson L; Nickels, Katherine C

2011-01-01

Purpose To compare long-term outcome in a population-based group of children with cryptogenic vs symptomatic focal epilepsy diagnosed from 1980–2004 and to define the course of epilepsy in the cryptogenic group. Methods We identified all children residing in Olmsted County, MN, 1 month through 17 years with newly diagnosed, non-idiopathic focal epilepsy from 1980–2004. Children with idiopathic partial epilepsy syndromes were excluded. Medical records were reviewed to determine etiology, results of imaging and EEG studies, treatments used, and long-term outcome. Children were defined as having symptomatic epilepsy if they had a known genetic or structural/metabolic etiology, and as cryptogenic if they did not. Key Findings Of 359 children with newly-diagnosed epilepsy, 215 (60%) had non-idiopathic focal epilepsy. Of these, 206 (96%) were followed for more than 12 months. Ninety five children (46%) were classified as symptomatic. Median follow-up from diagnosis was similar in both groups, being 157 months (25%ile, 75%ile 89, 233) in the cryptogenic group vs 134 months (25%ile, 75%ile 78, 220) in the symptomatic group (p=0.26). Of 111 cryptogenic cases, 66% had normal cognition. Long-term outcome was significantly better in those with cryptogenic vs symptomatic etiology (intractable epilepsy at last follow-up, 7% vs 40%, p<0.001; seizure-freedom at last follow-up, 81% vs 55%, p<0.001). Of those who achieved seizure-freedom at final follow-up, 68% of the cryptogenic group versus only 46% of the symptomatic group were off antiepileptic medications (p=0.01). One third of the cryptogenic group had a remarkably benign disorder, with no seizures seen after initiation of medication, or in those who were untreated, after the second afebrile seizure. A further 5% had seizures within the first year but remained seizure-free thereafter. With the exception of perinatal complications, which predicted against seizure remission, no other factors were found to significantly

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

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Coppola, Antonietta; Morrogh, Deborah; Farrell, Fiona; Balestrini, Simona; Hernandez-Hernandez, Laura; Krithika, S; Sander, Josemir W; Waters, Jonathan J; Sisodiya, Sanjay M

2017-12-01

Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or telomeric chromosomal regions. Some ring chromosomes, including ring 14, 17, and 20, are strongly associated with seizure disorders. We report an individual with a ring chromosome 17, r(17)(p13.3q25.3), with a terminal 17q25.3 deletion and no short arm copy number loss, and with a phenotype characterized by intellectual disability and drug-resistant epilepsy, including a propensity for nonconvulsive status epilepticus.

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.

Directory of Open Access Journals (Sweden)

Dalia Kasperavičiūtė

Full Text Available Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions were found during a study of genetic susceptibility to epilepsy. We performed detailed gene-driven clinical investigations in each patient. Disruption of the function of genes in the deleted regions can explain co-morbidities in these patients.Co-morbidities in patients with epilepsy can be part of a genomic abnormality even in the absence of (known congenital malformations or intellectual disabilities. Gene-driven phenotype examination can also reveal clinically significant unsuspected condition.

Familial risk of epilepsy: a population-based study

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Peljto, Anna L.; Barker-Cummings, Christie; Vasoli, Vincent M.; Leibson, Cynthia L.; Hauser, W. Allen; Buchhalter, Jeffrey R.

2014-01-01

Almost all previous studies of familial risk of epilepsy have had potentially serious methodological limitations. Our goal was to address these limitations and provide more rigorous estimates of familial risk in a population-based study. We used the unique resources of the Rochester Epidemiology Project to identify all 660 Rochester, Minnesota residents born in 1920 or later with incidence of epilepsy from 1935–94 (probands) and their 2439 first-degree relatives who resided in Olmsted County. We assessed incidence of epilepsy in relatives by comprehensive review of the relatives’ medical records, and estimated age-specific cumulative incidence and standardized incidence ratios for epilepsy in relatives compared with the general population, according to proband and relative characteristics. Among relatives of all probands, cumulative incidence of epilepsy to age 40 was 4.7%, and risk was increased 3.3-fold (95% confidence interval 2.75–5.99) compared with population incidence. Risk was increased to the greatest extent in relatives of probands with idiopathic generalized epilepsies (standardized incidence ratio 6.0) and epilepsies associated with intellectual or motor disability presumed present from birth, which we denoted ‘prenatal/developmental cause’ (standardized incidence ratio 4.3). Among relatives of probands with epilepsy without identified cause (including epilepsies classified as ‘idiopathic’ or ‘unknown cause’), risk was significantly increased for epilepsy of prenatal/developmental cause (standardized incidence ratio 4.1). Similarly, among relatives of probands with prenatal/developmental cause, risk was significantly increased for epilepsies without identified cause (standardized incidence ratio 3.8). In relatives of probands with generalized epilepsy, standardized incidence ratios were 8.3 (95% confidence interval 2.93–15.31) for generalized epilepsy and 2.5 (95% confidence interval 0.92–4.00) for focal epilepsy. In relatives of

Epilepsy priorities in Europe: A report of the ILAE-IBE Epilepsy Advocacy Europe Task Force.

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Baulac, Michel; de Boer, Hanneke; Elger, Christian; Glynn, Mike; Kälviäinen, Reetta; Little, Ann; Mifsud, Janet; Perucca, Emilio; Pitkänen, Asla; Ryvlin, Philippe

2015-11-01

organization and quality across European countries, translating into huge societal cost (0.2% GDP) and stressing the need for cost-effective programs of harmonization and optimization of epilepsy care throughout Europe. There is currently no cure or prevention for epilepsy, and 30% of affected persons are not controlled by current treatments, stressing the need for pursuing research efforts in the field within Horizon 2020. Priorities should include (1) development of innovative biomarkers and therapeutic targets and strategies, from gene and cell-based therapies to technologically advanced surgical treatment; (2) addressing issues raised by pediatric and aging populations, as well as by specific etiologies and comorbidities such as traumatic brain injury (TBI) and cognitive dysfunction, toward more personalized medicine and prevention; and (3) translational studies and clinical trials built upon well-established European consortia. Wiley Periodicals, Inc. © 2015 The Authors Epilepsia published by Wiley Periodicals, Inc. on behalf of International League Against Epilepsy.

[Investigation of psychological state and its influencing factors in children with epilepsy].

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Zhao, Jin-Hua; Zhou, Hui; Xu, Ming; Lu, Sheng-Li; Hong, Fei

2015-06-01

To evaluate the psychological state of children with epilepsy and analyze its influencing factors. The Mental Health Scale for Child and Adolescent was used to survey 113 children with epilepsy and 114 normal children to evaluate and compare their psychological state. Questionnaires were used to investigate the general status of all subjects and the disease condition and treatment of children with epilepsy. The possible influencing factors for the psychological state of children with epilepsy were analyzed. The mental health status of children with epilepsy was poorer than that of normal children in cognition, thinking, emotion, will-behavior, and personality traits (Pchildren with epilepsy. There is a wider range of psychological health problems in children with epilepsy than in normal children. Poor family living environment, poor seizure control, and use of many antiepileptic drugs are the risk factors affecting the psychological state of children with epilepsy. Improving family living environment, controlling seizures, and monotherapy help to improve the psychological state of children with epilepsy.

Stereotype Threat among Students with Disabilities: The Importance of The Evaluative Context on Their Cognitive Performance

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Desombre, Caroline; Anegmar, Souad; Delelis, Gérald

2018-01-01

This study investigated the hypothesis that cognitive performance of students with physical disabilities may be influenced by the evaluators' identity. Students with or without a physical disability completed a logic test and were informed that they would be evaluated by students from their own group (ingroup condition) or from an other group…

Trends in pediatric epilepsy surgery.

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Shah, Ritesh; Botre, Abhijit; Udani, Vrajesh

2015-03-01

Epilepsy surgery has become an accepted treatment for drug resistant epilepsy in infants and children. It has gained ground in India over the last decade. Certain epilepsy surgically remediable syndromes have been delineated and should be offered surgery earlier rather than later, especially if cognitive/behavioral development is being compromised. Advances in imaging, particularly in MRI has helped identify surgical candidates. Pre-surgical evaluation includes clinical assessment, structural and functional imaging, inter-ictal EEG, simultaneous video -EEG, with analysis of seizure semiology and ictal EEG and other optional investigations like neuropsychology and other newer imaging techniques. If data are concordant resective surgery is offered, keeping in mind preservation of eloquent cortical areas subserving motor, language and visual functions. In case of discordant data or non-lesional MRI, invasive EEG maybe useful using a two-stage approach. With multi-focal / generalized disease, palliative surgery like corpus callosotomy and vagal nerve stimulation maybe useful. A good outcome is seen in about 2/3rd of patients undergoing resective surgery with a low morbidity and mortality. This review outlines important learning aspects of pediatric epilepsy surgery for the general pediatrician.

Cognitive deficits in problematic drinkers with and without mild to borderline intellectual disability

NARCIS (Netherlands)

Duijvenbode, N. van; Didden, H.C.M.; Nagel, J.E.L. van der; Korzilius, H.P.L.M.; Engels, R.C.M.E.

2018-01-01

We examined cognitive deficits in problematic drinkers with and without mild to borderline intellectual disability (MBID). Problematic drinkers were expected to show a significantly lower estimated performance IQ (PIQ), but not a lower estimated verbal IQ (VIQ), compared to light drinkers.

Different perception of cognitive impairment, behavioral disturbances, and functional disabilities between persons with mild cognitive impairment and mild Alzheimer's disease and their caregivers.

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Onor, M L; Trevisiol, M; Negro, C; Aguglia, E

2006-01-01

Insight in dementia is a multifaceted concept and ability, which includes the persons' perception of their behavioral and cognitive symptoms and functional disability. This ability seems to deteriorate as dementia progresses. The aim of this study was to evaluate the level of insight in the cognitive, behavioral, and functional disorders in a group of persons with mild cognitive impairment (MCI) or mild AD (Alzheimer's disease) and to compare their perception of their illness with that of their caregivers. The study involved a group of 121 persons with MCI and mild AD and their caregivers. The persons with MCI and mild AD were administered the tests Mini-Mental State Examination, Instrumental Activities of Daily Living, Activities of Daily Living, Neuropsychiatric Inventory, Schedule for the Assessment of Insight, Clinical Insight Rating Scale, and a short interview. Major differences were identified between how the persons with MCI or mild AD and their caregivers perceived the persons' cognitive and behavioral disorders. The group with MCI or mild AD underestimated their deficits, which were considered serious and disabling by their caregivers.

Evaluation of nutritional status in children with refractory epilepsy.

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Bertoli, S; Cardinali, S; Veggiotti, P; Trentani, C; Testolin, G; Tagliabue, A

2006-04-26

children affected by refractory epilepsy could be at risk of malnutrition because of feeding difficulties (anorexia, chewing, swallowing difficulties or vomiting) and chronic use of anticonvulsants, which may affect food intake and energy metabolism. Moreover, their energy requirement may be changed as their disabilities would impede normal daily activities. The aim of the present study was to evaluate nutritional status, energy metabolism and food intake in children with refractory epilepsy. 17 children with refractory epilepsy (13 boys and 4 girls; mean age 9 +/- 3,2 years; Body Mass Index 15,7 +/- 3,6) underwent an anthropometric assessment, body composition evaluation by dual-energy X-ray absorptiometry, detailed dietetic survey and measurement of resting energy expenditure by indirect calorimetry. Weight-for-age, height-for-age (stunting) and weight-for-height (wasting) were estimated compared to those of a reference population of the same age. 40% of children were malnourished and 24% were wasted. The nutritional status was worse in the more disabled children. Dietary intake resulted unbalanced (18%, 39%, 43% of total daily energy intake derived respectively from protein, lipid and carbohydrate). Adequacy index [nutrient daily intake/recommended allowance (RDA) x 100] was nutritional assessment and management as part of their overall care.

Evaluation of nutritional status in children with refractory epilepsy

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Bertoli, S; Cardinali, S; Veggiotti, P; Trentani, C; Testolin, G; Tagliabue, A

2006-01-01

Background children affected by refractory epilepsy could be at risk of malnutrition because of feeding difficulties (anorexia, chewing, swallowing difficulties or vomiting) and chronic use of anticonvulsants, which may affect food intake and energy metabolism. Moreover, their energy requirement may be changed as their disabilities would impede normal daily activities. The aim of the present study was to evaluate nutritional status, energy metabolism and food intake in children with refractory epilepsy. Methods 17 children with refractory epilepsy (13 boys and 4 girls; mean age 9 ± 3,2 years; Body Mass Index 15,7 ± 3,6) underwent an anthropometric assessment, body composition evaluation by dual-energy X-ray absorptiometry, detailed dietetic survey and measurement of resting energy expenditure by indirect calorimetry. Weight-for-age, height-for-age (stunting) and weight-for-height (wasting) were estimated compared to those of a reference population of the same age. Results 40% of children were malnourished and 24% were wasted. The nutritional status was worse in the more disabled children. Dietary intake resulted unbalanced (18%, 39%, 43% of total daily energy intake derived respectively from protein, lipid and carbohydrate). Adequacy index [nutrient daily intake/recommended allowance (RDA) × 100] was nutritional assessment and management as part of their overall care. PMID:16640779

Social outcomes of young adults with childhood-onset epilepsy: A case-sibling-control study.

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Baca, Christine B; Barry, Frances; Vickrey, Barbara G; Caplan, Rochelle; Berg, Anne T

2017-05-01

We aimed to compare long-term social outcomes in young adults with childhood-onset epilepsy (cases) with neurologically normal sibling controls. Long-term social outcomes were assessed at the 15-year follow-up of the Connecticut Study of Epilepsy, a community-based prospective cohort study of children with newly diagnosed epilepsy. Young adults with childhood-onset epilepsy with complicated (abnormal neurologic exam findings, abnormal brain imaging with lesion referable to epilepsy, intellectual disability (ID; IQ < 60) or informative history of neurologic insults to which the occurrence of epilepsy might be attributed), and uncomplicated epilepsy presentations were compared to healthy sibling controls. Age, gender, and matched-pair adjusted generalized linear models stratified by complicated epilepsy and 5-year seizure-free status estimated adjusted odds ratios (aORs) and 95% confidence intervals [CIs] for each outcome. The 15-year follow-up included 361 individuals with epilepsy (59% of initial cases; N = 291 uncomplicated and N = 70 complicated epilepsy; mean age 22 years [standard deviation, SD 3.5]; mean epilepsy onset 6.2 years [SD 3.9]) and 173 controls. Social outcomes for cases with uncomplicated epilepsy with ≥5 years terminal remission were comparable to controls; cases with uncomplicated epilepsy <5 years seizure-free were more likely to be less productive (school/employment < 20 h/week) (aOR 3.63, 95% CI 1.83-7.20) and not to have a driver's license (aOR 6.25, 95% CI 2.85-13.72). Complicated cases with epilepsy <5 years seizure-free had worse outcomes across multiple domains; including not graduating high school (aOR 24.97, 95% CI 7.49-83.30), being un- or underemployed (<20 h/week) (aOR 11.06, 95% CI 4.44-27.57), being less productively engaged (aOR 15.71, 95% CI 6.88-35.88), and not living independently (aOR 10.24, 95% CI 3.98-26.36). Complicated cases without ID (N = 36) had worse outcomes with respect to productive engagement (aOR 6.02; 95% CI 2

Baseline disability in activities of daily living predicts dementia risk even after controlling for baseline global cognitive ability and depressive symptoms.

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Fauth, Elizabeth B; Schwartz, Sarah; Tschanz, Joann T; Østbye, Truls; Corcoran, Christopher; Norton, Maria C

2013-06-01

Late-life disability in activities of daily living (ADL) is theorized to be driven by underlying cognitive and/or physical impairment, interacting with psychological and environmental factors. Although we expect that cognitive deficits would explain associations between ADL disability and dementia risk, the current study examined ADL as a predictor of future dementia after controlling for global cognitive status. The population-based Cache County Memory Study (N = 3547) assessed individuals in four triennial waves (average age 74.9 years, years of education 13.36 years; 57.9% were women). Cox proportional hazards regression models assessed whether baseline ADL disability (presence of 2+ Instrumental ADL and/or 1+ Personal ADL) predicted incident dementia after controlling for APOE status, gender, age, baseline cognitive ability (Modified Mini-mental State Exam, 3MS-R; adjusted for education level), and baseline depressive symptoms (Diagnostic Interview Schedule). Over the course of study, 571 cases of incident dementia were identified through in-depth cognitive assessment, ending in expert consensus diagnosis. Results from Cox models suggest that ADL disability is a statistically significant predictor of incident dementia (adjusted hazard ratio = 1.83, p controlling for covariates. Findings suggest that ADL disability offers unique contributions in risk for incident dementia, even after controlling for global cognitive status. We discuss how physical impairment and executive function may play important roles in this relationship, and how ADL is useful, not just a diagnostic tool at, or after dementia onset, but also as a risk factor for future dementia, even in individuals not impaired on global cognitive tests. Copyright © 2012 John Wiley & Sons, Ltd.

Health-related quality of life in adolescents with epilepsy in Montenegro.

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Radović, Nelica Ivanović; Božić, Ksenija; Đurić, Aleksandra Plećaš; Vodopić, Sanja; Radulović, Ljiljana; Vujisić, Slavica

2017-11-01

The objective of this study was to establish potential risk factors for poor health-related quality of life among adolescents with epilepsy in Montenegro. A sample of 104 adolescents with epilepsy (age: 11-19years) at a tertiary referral center in Podgorica, Montenegro, completed the validated Serbian version of the QOLIE-AD-48 questionnaire. They were divided into two groups: a group with active epilepsy (60 adolescents) and a group with inactive epilepsy (44 adolescents). Demographic and clinical data were collected. Adolescents with active epilepsy had low quality of life and felt the negative impact of the disease. They also had more cognitive impairments, felt more stigmatized, and had considerably more distorted perception of their health than adolescents with inactive epilepsy (pepilepsy was determined by severity of the disease, age, and gender. Copyright © 2017 Elsevier Inc. All rights reserved.

The interrelationships between motor, cognitive, and language development in children with and without intellectual and developmental disabilities

NARCIS (Netherlands)

Houwen, Suzanne; Visser, Linda; van der Putten, Annette; Vlaskamp, Carla

2016-01-01

It is generally agreed that cognitive and language development are dependent on the emergence of motor skills. As the literature on this issue concerning children with developmental disabilities is scarce, we examined the interrelationships between motor, cognitive, and language development in

The cognitive and academic profiles of reading and mathematics learning disabilities.

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Compton, Donald L; Fuchs, Lynn S; Fuchs, Douglas; Lambert, Warren; Hamlett, Carol

2012-01-01

The purpose of this study was to examine the cognitive and academic profiles associated with learning disability (LD) in reading comprehension, word reading, applied problems, and calculations. The goal was to assess the specificity hypothesis, in which unexpected underachievement associated with LD is represented in terms of distinctive patterns of cognitive and academic strengths and weaknesses. At the start of 3rd grade, the authors assessed 684 students on five cognitive dimensions (nonverbal problem solving, processing speed, concept formation, language, and working memory), and across Grades 3 through 5, the authors assessed performance in each academic area three to four times. Based on final intercept, the authors classified students as LD or not LD in each of the four academic areas. For each of these four LD variables, they conducted multivariate cognitive profile analysis and academic profile analysis. Results, which generally supported the specificity hypothesis, are discussed in terms of the potential connections between reading and mathematics LD.

Epilepsy, Anticonvulsants and Cognitive Functions in School Students.

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Keister, Douglas Charles

Research is reviewed on epilepsy and findings summarized in terms of intelligence, relationship between etiology and intelligence, seizure frequency, age of onset, duration, premorbid intelligence, and specific psychological defects, electroencephalography (EEG) and IQ, and learning. Among findings noted are that the widespread belief among…

Epilepsy in patients with autism: links, risks and treatment challenges

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Besag FMC

2017-12-01

Full Text Available Frank MC Besag Neurodevelopmental Team, East London Foundation NHS Trust, Family Consultation Clinic, Bedford, UK Abstract: Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD, which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence. The rate of autism in epilepsy is much higher in those with intellectual disability. In conditions such as the Landau–Kleffner syndrome and nonconvulsive status epilepticus, the epilepsy itself may present with autistic features. There is no plausible mechanism for autism causing epilepsy, however. The co-occurrence of autism and epilepsy is almost certainly the result of underlying factors predisposing to both conditions, including both genetic and environmental factors. Conditions such as attention deficit hyperactivity disorder, anxiety and sleep disorders are common in both epilepsy and autism. Epilepsy is generally not a contraindication to treating these conditions with suitable medication, but it is important to take account of relevant drug interactions. One of the greatest challenges in autism is to determine why early childhood regression occurs in perhaps 25%. Further research should focus on finding the cause for such regression. Whether epilepsy plays a role in the regression of a subgroup of children with autism who lose skills remains to be determined. Keywords: epilepsy, autism, regression, genetics, environment, Landau-Kleffner, CSWS 

Astroglial networks and implications for therapeutic neuromodulation of epilepsy.

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Witcher, Mark R; Ellis, Thomas L

2012-01-01

Epilepsy is a common chronic neurologic disorder affecting approximately 1% of the world population. More than one-third of all epilepsy patients have incompletely controlled seizures or debilitating medication side effects in spite of optimal medical management. Medically refractory epilepsy is associated with excess injury and mortality, psychosocial dysfunction, and significant cognitive impairment. Effective treatment options for these patients can be limited. The cellular mechanisms underlying seizure activity are incompletely understood, though we here describe multiple lines of evidence supporting the likely contribution of astroglia to epilepsy, with focus on individual astrocytes and their network functions. Of the emerging therapeutic modalities for epilepsy, one of the most intriguing is the field of neuromodulation. Neuromodulatory treatment, which consists of administering electrical pulses to neural tissue to modulate its activity leading to a beneficial effect, may be an option for these patients. Current modalities consist of vagal nerve stimulation, open and closed-loop stimulation, and transcranial magnetic stimulation. Due to their unique properties, we here present astrocytes as likely important targets for the developing field of neuromodulation in the treatment of epilepsy.

Epilepsy genetics: clinical beginnings and social consequences.

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Johnston, J A; Rees, M I; Smith, P E M

2009-07-01

The approach to epilepsy care has transformed in the last 30 years, with more and better anti-epileptic medications, improved cerebral imaging and increased surgical options. Alongside this, developments in neuroscience and molecular genetics have furthered the understanding of epileptogenesis. Future developments in pharmacogenomics hold the promise of antiepileptic drugs matched to specific genotypes. Despite this rapid progress, one-third of epilepsy patients remain refractory to medication, with their seizures impacting upon day-to-day activity, social well-being, independence, economic output and quality of life. International genome collaborations, such as HapMap and the Welcome Trust Case-Control Consortium single nucleotide polymorphism (SNP) mapping project have identified common genetic variations in diseases of major public health importance. Such genetic signposts should help to identify at-risk populations with a view to producing more effective pharmaceutical treatments. Neurological disorders, despite comprising one-fifth of UK acute medical hospital admissions, are surprisingly under-represented in these projects. Epilepsy is the commonest serious neurological disorder worldwide. Although physically, psychologically, socially and financially disabling, it rarely receives deserved attention from physicians, scientists and governmental bodies. As outlined in this article, research into epilepsy genetics presents unique challenges. These help to explain why the identification of its complex genetic traits has lagged well behind other disciplines, particularly the efforts made in neuropsychiatric disorders. Clinical beginnings must underpin any genetic understanding in epilepsy. Success in identifying genetic traits in other disorders does not make the automatic case for genome-wide screening in epilepsy, but such is a desired goal. The essential clinical approach of accurately phenotyping, diagnosing and interpreting the dynamic nature of epilepsy

Correlation of neuropsychological and metabolic changes after epilepsy surgery in patients with left mesial temporal lobe epilepsy with hippocampal sclerosis.

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Güvenç, Canan; Dupont, Patrick; Van den Stock, Jan; Seynaeve, Laura; Porke, Kathleen; Dries, Eva; Van Bouwel, Karen; van Loon, Johannes; Theys, Tom; Goffin, Karolien E; Van Paesschen, Wim

2018-04-12

Epilepsy surgery often causes changes in cognition and cerebral glucose metabolism. Our aim was to explore relationships between pre- and postoperative cerebral metabolism as measured with 18 F-fluorodeoxyglucose positron emission tomography (FDG-PET) and neuropsychological test scores in patients with left mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS), who were rendered seizure-free after epilepsy surgery. Thirteen patients were included. All had neuropsychological testing and an interictal FDG-PET scan of the brain pre- and postoperative. Correlations between changes in neuropsychological test scores and metabolism were examined using statistical parametric mapping (SPM). There were no significant changes in the neuropsychological test scores pre- and postoperatively at the group level. Decreased metabolism was observed in the left mesial temporal regions and occipital lobe. Increased metabolism was observed in the bi-frontal and right parietal lobes, temporal lobes, occipital lobes, thalamus, cerebellum, and vermis. In these regions, we did not find a correlation between changes in metabolism and neuropsychological test scores. A significant negative correlation, however, was found between metabolic changes in the precuneus and Boston Naming Test (BNT) scores. There are significant metabolic decreases in the left mesial temporal regions and increases in the bi-frontal lobes; right parietal, temporal, and occipital lobes; right thalamus; cerebellum; and vermis in patients with left MTLE-HS who were rendered seizure-free after epilepsy surgery. We could not confirm that these changes translate into significant cognitive changes. A significant negative correlation was found between changes in confrontation naming and changes in metabolism in the precuneus. We speculate that the precuneus may play a compensatory role in patients with postoperative naming difficulties after left TLE surgery. Understanding of these neural mechanisms may aid in

Predictors of trajectories of epilepsy-specific quality of life among children newly diagnosed with epilepsy.

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Ramsey, Rachelle R; Loiselle, Kristin; Rausch, Joseph R; Harrison, Jordan; Modi, Avani C

2016-04-01

The objective of this study was to identify two-year trajectories of epilepsy-specific health-related quality of life (HRQOL) among children newly diagnosed with epilepsy and to evaluate the predictive value of a comprehensive set of medical, psychosocial, and family factors. Ninety-four children with epilepsy (8.14 ± 2.37 years of age and 63% male) and their caregivers participated in this study. Caregivers completed the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE) and measures of psychological and family functioning at one month postdiagnosis. The QOLCE was also given at eight additional time points during the subsequent two years as a part of a large observational study in children with epilepsy. Adherence data were collected via MEMS TrackCaps, and medical information was collected through chart review. Unique trajectories were identified for the overall QOLCE scale, as well as the subscales. Most trajectory models for the QOLCE subscales contained at least one at-risk trajectory for children, indicating that there is a subgroup of children experiencing poor long-term HRQOL. Health-related quality-of-life trajectories remained predominantly stable during the two-year period following treatment initiation. The number of AEDs, internalizing problems, and externalizing problems emerged as the most consistent predictors across the HRQOL domains. Medical and psychosocial interventions, such as cognitive-behavioral strategies, should target modifiable factors (e.g., internalizing symptoms, externalizing symptoms, number of AEDs trialed) shortly after diagnosis to improve HRQOL for children with epilepsy over the course of their disease. Copyright © 2016 Elsevier Inc. All rights reserved.

Poor academic performance among adolescents with epilepsy in ...

African Journals Online (AJOL)

epilepsy is associated with impairment in academic performance,3-7 which may limit .... investigated children and adolescents with mental retardation and so could have ... direct brain damage with resultant cognitive deficits. In addition, an.

Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review

Directory of Open Access Journals (Sweden)

Vanessa Lin Lin Lee

2018-03-01

Full Text Available Metabolic epilepsy is a metabolic abnormality which is associated with an increased risk of epilepsy development in affected individuals. Commonly used antiepileptic drugs are typically ineffective against metabolic epilepsy as they do not address its root cause. Presently, there is no review available which summarizes all the treatment options for metabolic epilepsy. Thus, we systematically reviewed literature which reported on the treatment, therapy and management of metabolic epilepsy from four databases, namely PubMed, Springer, Scopus and ScienceDirect. After applying our inclusion and exclusion criteria as per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA guidelines, we reviewed a total of 43 articles. Based on the reviewed articles, we summarized the methods used for the treatment, therapy and management of metabolic epilepsy. These methods were tailored to address the root causes of the metabolic disturbances rather than targeting the epilepsy phenotype alone. Diet modification and dietary supplementation, alone or in combination with antiepileptic drugs, are used in tackling the different types of metabolic epilepsy. Identification, treatment, therapy and management of the underlying metabolic derangements can improve behavior, cognitive function and reduce seizure frequency and/or severity in patients.

A UHF RFID positioning system for use in warehouse navigation by employees with cognitive disability.

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Gunther, Eric J M; Sliker, Levin J; Bodine, Cathy

2017-11-01

Unemployment among the almost 5 million working-age adults with cognitive disabilities in the USA is a costly problem in both tax dollars and quality of life. Job coaching is an effective tool to overcome this, but the cost of job coaching services sums with every new employee or change of employment roles. There is a need for a cost-effective, automated alternative to job coaching that incurs a one-time cost and can be reused for multiple employees or roles. An effective automated job coach must be aware of its location and the location of destinations within the job site. This project presents a design and prototype of a cart-mounted indoor positioning and navigation system with necessary original software using Ultra High Frequency Radio Frequency Identification (UHF RFID). The system presented in this project for use within a warehouse setting is one component of an automated job coach to assist in the job of order filler. The system demonstrated accuracy to within 0.3 m under the correct conditions with strong potential to serve as the basis for an effective indoor navigation system to assist warehouse workers with disabilities. Implications for rehabilitation An automated job coach could improve employability of and job retention for people with cognitive disabilities. An indoor navigation system using ultra high frequency radio frequency identification was proposed with an average positioning accuracy of 0.3 m. The proposed system, in combination with a non-linear context-aware prompting system, could be used as an automated job coach for warehouse order fillers with cognitive disabilities.

Behavioral problems in children with epilepsy in rural Kenya

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Kariuki, Symon M.; Abubakar, Amina; Holding, Penny A.; Mung'ala-Odera, Victor; Chengo, Eddie; Kihara, Michael; Neville, Brian G.; Newton, Charles R.J.C.

2012-01-01

The aims of this study were to record behavioral problems in children with epilepsy (CWE), compare the prevalence with that reported among healthy children without epilepsy, and investigate the risk factors. A child behavioral questionnaire for parents comprising 15 items was administered to the main caregiver of 108 CWE and 108 controls matched for age in Kilifi, Kenya. CWE had a higher mean score for reported behavioral problems than controls (6.9 vs 4.9, t = 4.7, P epilepsy also recorded more behavioral problems than those with inactive epilepsy (8.2 vs 6.2, t = − 2.9, P = 0.005). A significantly greater proportion of CWE (49% vs 26% of controls) were reported to have behavioral problems. Active epilepsy, cognitive impairment, and focal seizures were the most significant independent covariates of behavioral problems. Behavioral problems in African CWE are common and need to be taken into consideration in planning comprehensive clinical services in this region. PMID:22119107

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

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Holder, J Lloyd; Quach, Michael M

2016-10-01

The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability. 1 Individuals with loss-of-function mutations in SHANK3 have intellectual disability, autism, and variably, epilepsy. 2-5 The spectrum of seizure semiologies and electroencephalography (EEG) abnormalities has never been investigated in detail. With the recent report that SHANK3 mutations are present in approximately 2% of individuals with moderate to severe intellectual disabilities and 1% of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with SHANK3 mutations. A retrospective chart review was performed of all individuals treated at the Blue Bird Circle Clinic for Child Neurology who have been identified as having either a chromosome 22q13 microdeletion encompassing SHANK3 or a loss-of-function mutation in SHANK3 identified through whole-exome sequencing. For each subject, the presence or absence of seizures, seizure semiology, frequency, age of onset, and efficacy of therapy were determined. Electroencephalography studies were reviewed by a board certified neurophysiologist. Neuroimaging was reviewed by both a board certified pediatric neuroradiologist and child neurologist. There is a wide spectrum of seizure semiologies, frequencies, and severity in individuals with SHANK3 mutations. There are no specific EEG abnormalities found in our cohort, and EEG abnormalities were present in individuals diagnosed with epilepsy and those without history of a clinical seizure. All individuals with a mutation in SHANK3 should be evaluated for epilepsy due to the high prevalence of seizures in this population. The most common semiology is atypical absence seizure, which can be challenging to identify due to comorbid intellectual disability in individuals with SHANK3 mutations; however, no consistent seizure semiology, neuroimaging

Epilepsy and violence: case series concerning physical trauma in children of persons with epilepsy

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Gauffin H

2014-11-01

Full Text Available Helena Gauffin1,2 Anne-Marie Landtblom1–4 1Department of Neurology, Linköping University, Linköping, Sweden; 2Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden; 3Neurology Unit, Department of Medical Specialist, General Hospital, Department of Medicine and Health Sciences, IMM, County Council, Linköping University, Motala, Sweden; 4Department of Neuroscience, Uppsala University, Uppsala, Sweden Abstract: Historically, epilepsy has been associated with violence, but more recent studies have emphasized genetic and psychosocial factors as more important. The case series presented here aim to highlight the difficult situation the affected children are in. We report on three cases when children have been traumatized and, in one case, even been killed by their parent who was diagnosed with epilepsy. In the first case, we describe a woman with juvenile myoclonic epilepsy who was sentenced to forensic psychiatry care for killing her child. She lived under difficult psychosocial circumstances and a suicide attempt contributed to what happened. The second case describes a man with post-traumatic seizures who was sentenced for child abuse. Ictal or postictal violence was considered in these two cases but a causal link between the violence and epilepsy has not been established. In the third case, we describe a woman with focal epilepsy and psychogenic non-epileptic seizures (PNESs. Her child was hurt and frightened in relation to violent seizures, which were regarded as PNESs. This case series demonstrates that children of parents with epilepsy can be in a vulnerable situation. No causality has been established between the seizures and these events, so consequently other factors such as psychosocial stress, low cognitive function, and a suicide attempt must also be considered as important. When a child is hurt by a parent with epilepsy the patient must be closely examined to determine the role of the seizures

Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.

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Hon, Kam Lun E Lun; Leung, Alexander K C; Torres, Alcy R

2018-05-08

New-onset refractory status epilepticus (NORSE) refers to a clinical presentation in a patient without active epilepsy or other existing relevant neurological disorder, with new onset of refractory status epilepticus in the absence of a clear acute or active structural, metabolic, or toxic cause. Febrile infection-related epilepsy syndrome (FIRES) is a subset of NORSE that requires a febrile infection between 24 hours and 2 weeks prior to the onset of refractory status epilepticus, with or without fever at the onset of status epilepticus, and with no restriction to the age of the patient. The literature on FIRES is scarce. This article reviews the pathophysiology, clinical features, and various treatment modalities in the treatment of FIRES. A Medline/Pubmed search was conducted using Clinical Queries with the key terms "febrile infection-related epilepsy syndrome", "FIRES", "new-onset refractory status epilepticus" and "NORSE". The search strategy included meta-analyses, randomized controlled trials, clinical trials, reviews and pertinent references. Patents were searched using the key term "FIRES", "NORSE" and "febrile epilepsy syndrome" from www.google.com/patents, www.uspto.gov, and www.freepatentsonline.com. FIRES almost invariably begins with a mild nonspecific febrile illness in an otherwise healthy individual. Twenty four hours to two weeks later, seizures begin and quickly become very frequent and worsen, becoming status epilepticus. Seizures can be simple motor, complex partial or secondary generalized. The exact etiology is no known. It is possible that the syndrome is caused by an inflammatory or autoimmune mechanism. Seizures in FIRES are notoriously very difficult to treat. Treatment modalities include, among others, various antiepileptic drugs, ketogenic diet, intravenous corticosteroids, intravenous immunoglobulin, and burst-suppression coma. Outcome is poor; most children are left with significant cognitive disability and refractory epilepsy

Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome

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Verhoeven W

2018-03-01

Full Text Available Willem Verhoeven,1,2 Jos Egger,1,3 Emmy Räkers,4 Arjen van Erkelens,5 Rolph Pfundt,5 Marjolein H Willemsen5 1Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands; 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, the Netherlands; 3Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands; 4ASVZ, Centre for People with Intellectual Disabilities, Sliedrecht, the Netherlands; 5Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands Abstract: The additional sex combs like 3 gene is considered to be causative for the rare Bainbridge-Ropers syndrome (BRPS, which is characterized by severe intellectual disability, neonatal hypotonia, nearly absent development of speech and language as well as several facial dysmorphisms. Apart from disruptive autistiform behaviors, sleep disturbances and epileptic phenomena may be present. Here, a 47-year-old severely intellectually disabled male is described in whom exome sequencing disclosed a novel heterozygous frameshift mutation in the ASXL3 gene leading to a premature stopcodon in the last part of the last exon. Mutations in this very end 3' of the gene have not been reported before in BRPS. The phenotypical presentation of the patient including partially therapy-resistant epilepsy starting in later adulthood shows overlap with BRPS, and it was therefore concluded that the phenotype is likely explained by the identified mutation in ASXL3. Keywords: Bainbridge-Ropers syndrome, ASLX3, frameshift mutation, epilepsy, intellectual disability, array analysis, whole exome sequencing, autism spectrum disorder

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

DEFF Research Database (Denmark)

Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J

2009-01-01

We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously...... associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date....

WISC-III cognitive profiles in children with developmental dyslexia: specific cognitive disability and diagnostic utility.

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Moura, Octávio; Simões, Mário R; Pereira, Marcelino

2014-02-01

This study analysed the usefulness of the Wechsler Intelligence Scale for Children-Third Edition in identifying specific cognitive impairments that are linked to developmental dyslexia (DD) and the diagnostic utility of the most common profiles in a sample of 100 Portuguese children (50 dyslexic and 50 normal readers) between the ages of 8 and 12 years. Children with DD exhibited significantly lower scores in the Verbal Comprehension Index (except the Vocabulary subtest), Freedom from Distractibility Index (FDI) and Processing Speed Index subtests, with larger effect sizes than normal readers in Information, Arithmetic and Digit Span. The Verbal-Performance IQs discrepancies, Bannatyne pattern and the presence of FDI; Arithmetic, Coding, Information and Digit Span subtests (ACID) and Symbol Search, Coding, Arithmetic and Digit Span subtests (SCAD) profiles (full or partial) in the lowest subtests revealed a low diagnostic utility. However, the receiver operating characteristic curve and the optimal cut-off score analyses of the composite ACID; FDI and SCAD profiles scores showed moderate accuracy in correctly discriminating dyslexic readers from normal ones. These results suggested that in the context of a comprehensive assessment, the Wechsler Intelligence Scale for Children-Third Edition provides some useful information about the presence of specific cognitive disabilities in DD. Practitioner Points. Children with developmental dyslexia revealed significant deficits in the Wechsler Intelligence Scale for Children-Third Edition subtests that rely on verbal abilities, processing speed and working memory. The composite Arithmetic, Coding, Information and Digit Span subtests (ACID); Freedom from Distractibility Index and Symbol Search, Coding, Arithmetic and Digit Span subtests (SCAD) profile scores showed moderate accuracy in correctly discriminating dyslexics from normal readers. Wechsler Intelligence Scale for Children-Third Edition may provide some useful

Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia.

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Radhakrishnan, Ashalatha; Sithinamsuwan, Pasiri; Harvey, A Simon; Flanagan, Danny; Fitt, Gregory; Berlangieri, Sam; Jackson, Graeme D; Berkovic, Samuel F; Scheffer, Ingrid E

2008-12-01

Patients with multifocal epilepsy are often considered unsuitable for epilepsy surgery. We report an adolescent with intractable frontal and occipital lobe seizures, secondary to complications of treatment for acute lymphoblastic leukaemia as a young child. Chemotherapy and radiotherapy were complicated by bilateral, posterior leukoencephalopathy and later an acquired frontal cerebral cavernous malformation (CCM). Detailed electro-clinical and imaging studies showed multiple, frontal lobe seizures per day with less frequent and non-debilitating, simple, occipital lobe seizures. Focal resection of the frontal CCM abolished the socially-disabling seizures with resultant marked improvement in the patient's quality of life at 12 months. Careful analysis of the type and impact of focal seizures in the setting of multifocal epilepsy may demonstrate that one seizure type is more deleterious to quality of life and may be amenable to surgery. In this situation, the patient may benefit significantly from surgery to resect the more active epileptic focus.

The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

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Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D; Kossoff, Eric H; Willems, Marjolaine; Geneviève, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally

2016-11-01

IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study. Information regarding the 18 patients was ascertained by questionnaire provided to the treating clinicians. Six affected individuals had an inherited IQSEC2 variant and 12 had a de novo one (male-to-female ratio, 12:6). The pathogenic variant types were as follows: missense (8), nonsense (5), frameshift (1), intragenic duplications (2), translocation (1), and insertion (1). An epileptic encephalopathy was diagnosed in 9 (50%) of 18 patients. Seizure onset ranged from 8 months to 4 years; seizure types included spasms, atonic, myoclonic, tonic, absence, focal seizures, and generalized tonic-clonic (GTC) seizures. The electroclinical syndromes could be defined in five patients: late-onset epileptic spasms (three) and Lennox-Gastaut or Lennox-Gastaut-like syndrome (two). Seizures were pharmacoresistant in all affected individuals with epileptic encephalopathy. The epilepsy in the other nine patients had a variable age at onset from infancy to 18 years; seizure types included GTC and absence seizures in the hereditary cases and GTC and focal seizures in de novo cases. Seizures were responsive to medical treatment in most cases. All 18 patients had moderate to profound intellectual disability. Developmental regression, autistic features, hypotonia, strabismus, and white matter changes on brain magnetic resonance imaging (MRI) were prominent features. The phenotypic spectrum of IQSEC2 disorders includes epilepsy and epileptic encephalopathy. Epileptic encephalopathy is a main clinical

Obstructive sleep apnea in children with cerebral palsy and epilepsy.

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Garcia, John; Wical, Beverly; Wical, William; Schaffer, Leah; Wical, Thomas; Wendorf, Heather; Roiko, Samuel

2016-10-01

To examine the risk of obstructive sleep apnea (OSA) in children with cerebral palsy (CP) and/or epilepsy. This cross-sectional study employs the Pediatric Sleep Questionnaire (PSQ), the Gross Motor Function Classification System (GMFCS), and chart review to identify symptoms of OSA in children presenting to a multi-specialty pediatric healthcare institution. Two-hundred and fifteen patients were grouped into those with epilepsy (n=54), CP (n=18), both (n=55), and neither (comparison group, n=88). The comparison group comprised children with developmental disabilities but not children with typical development. Significantly increased PSQ scores (indicating increased risk of OSA) were found among children with CP (58%) and CP with epilepsy (67%) than among the comparison group (27%; pChildren with both CP and epilepsy had a greater number of increased PSQ scores compared with CP alone (pchildren at risk of OSA (46%) than did the medical record review for symptoms of OSA (8.2%, pChildren with CP of greater severity or comorbid epilepsy are at increased risk of OSA. This study supports the routine questionnaire-based assessment for OSA as a regular part of the care of all children with CP, especially in those with more severe CP and those with epilepsy. © 2016 Mac Keith Press.

Cognitive and neuropsychological outcomes: more than IQ scores.

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Aylward, Glen P

2002-01-01

Improved survival in preterm infants has broadened interest in cognitive and neuropsychological outcomes. The incidence of major disabilities (moderate/severe mental retardation, neurosensory disorders, epilepsy, cerebral palsy) has remained consistent, but high prevalence/low severity dysfunctions (learning disabilities, ADHD, borderline mental retardation, specific neuropsychological deficits, behavioral disorders) have increased. The follow-up literature contains methodologic problems that make generalizations regarding outcome difficult, and these are discussed. Although mean IQs of former VLBW infants generally are in the low average range and are 3-9 points below normal birth weight peers, these scores mask subtle deficits in: visual-motor and visual-perceptual abilities, complex language functions, academics (reading, mathematics, spelling and writing), and attentional skills. There is an increased incidence of non-verbal learning disabilities, need for special educational assistance, and behavioral disorders in children born prematurely. Males have more problems, and there is a trend for worsening outcome over time, due to emergence of more subtle deficits in response to increased performance demands. In addition to IQ and achievement testing in follow-up, there should be evaluation of executive functions and attention, language, sensorimotor functions, visuospatial processes, memory and learning, and behavioral adjustment. Copyright 2002 Wiley-Liss, Inc.

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

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Vari, Maria Stella; Traverso, Monica; Bellini, Tommaso; Madia, Francesca; Pinto, Francesca; Minetti, Carlo; Striano, Pasquale; Zara, Federico

2017-08-01

Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients. We perform a genetic analysis by Array-CGH in a patient with dysmorphic features and temporal lobe epilepsy. We report a de novo duplication of the long arm of chromosome 12. We confirm that 12q22-q23.3 is a candidate locus for familial temporal lobe epilepsy with febrile seizures and highlight the role of chromosomal rearrangements in patients with epilepsy and intellectual disability. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Late onset myoclonic epilepsy in Down syndrome and dementia

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Annapia Verri

2012-09-01

Full Text Available Specific forms of epilepsy may be found at various ages in Down Syndrome (DS and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS. We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR. MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008 demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009 showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject.

Prevalence of Disability and Disability Type Among Adults--United States, 2013.

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Courtney-Long, Elizabeth A; Carroll, Dianna D; Zhang, Qing C; Stevens, Alissa C; Griffin-Blake, Shannon; Armour, Brian S; Campbell, Vincent A

2015-07-31

Understanding the prevalence of disability is important for public health programs to be able to address the needs of persons with disabilities. Beginning in 2013, to measure disability prevalence by functional type, the Behavioral Risk Factor Surveillance System (BRFSS), added five questions to identify disability in vision, cognition, mobility, self-care, and independent living. CDC analyzed data from the 2013 BRFSS to assess overall prevalence of any disability, as well as specific types of disability among noninstitutionalized U.S. adults. Across all states, disabilities in mobility and cognition were the most frequently reported types. State-level prevalence of each disability type ranged from 2.7% to 8.1% (vision); 6.9% to 16.8% (cognition); 8.5% to 20.7% (mobility); 1.9% to 6.2% (self-care) and 4.2% to 10.8% (independent living). A higher prevalence of any disability was generally seen among adults living in states in the South and among women (24.4%) compared with men (19.8%). Prevalences of any disability and disability in mobility were higher among older age groups. These are the first data on functional disability types available in a state-based health survey. This information can help public health programs identify the prevalence of and demographic characteristics associated with different disability types among U.S. adults and better target appropriate interventions to reduce health disparities.

Factors associated with quality of life in active childhood epilepsy: a population-based study.

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Reilly, Colin; Atkinson, Patricia; Das, Krishna B; Chin, Richard F M; Aylett, Sarah E; Burch, Victoria; Gillberg, Christopher; Scott, Rod C; Neville, Brian G R

2015-05-01

Improving health-related quality of life (HRQOL), rather than just reducing seizures, should be the principal goal in comprehensive management of childhood epilepsy. There is a lack of population-based data on predictors of HRQOL in childhood epilepsy. The Children with Epilepsy in Sussex Schools (CHESS) study is a prospective, population-based study involving school-aged children (5-15 years) with active epilepsy (on one or more AED and/or had a seizure in the last year) in a defined geographical area in the UK. Eighty-five of 115 (74% of eligible population) children underwent comprehensive psychological assessment including measures of cognition, behaviour, and motor functioning. Parents of the children completed the Quality of Life in Childhood Epilepsy (QOLCE).Clinical data on eligible children was extracted using a standardised pro forma. Linear regression analysis was undertaken to identify factors significantly associated with total Quality of Life in this population. Factors independently significantly associated (p QOLCE scores were seizures before 24 months, cognitive impairment (IQ QOLCE when children with IQ < 50 were excluded from analysis. The majority of factors associated with parent reported HRQOL in active childhood epilepsy are related to neurobehavioural and/or psychosocial aspects of the condition. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Addressing the burden of epilepsy: Many unmet needs.

Science.gov (United States)

Beghi, Ettore

2016-05-01

Epilepsy is a heterogeneous clinical condition characterized by recurrent unprovoked seizures, their causes and complications. The incidence, prevalence and mortality of epilepsy vary with age, place and time contributing to a variable extent to the burden of the disease. Diagnostic misclassification may have strong impact on personal and societal reflections of the disease in light of its clinical manifestations and the need for chronic treatment. Epilepsy accounts for a significant proportion of the world's disease burden ranking fourth after tension-type headache, migraine and Alzheimer disease. Among neurological diseases, it accounts for the highest disability-adjusted life year rates both in men and in women. Although epilepsy is self-remitting in up to 50% of cases, variable long-term prognostic patterns can be identified based on the response to the available treatments. Epilepsy carries an overall increased risk of premature mortality with variable estimates across countries. Premature mortality predominates in patients aged less than 50 years, with epilepsies due to structural/metabolic conditions, with generalized tonic-clonic seizures, and seizures not remitting under treatment. Among deaths directly attributable to epilepsy or seizures, included are sudden unexpected death in epilepsy (SUDEP), status epilepticus, accidents, drowning, unintentional injuries, and suicide. Somatic and psychiatric disorders prevail in patients with epilepsy than in people without epilepsy. Asthma, migraine and cerebral tumors tend to occur more frequently in younger adults while cardiovascular disorders, stroke, dementia and meningioma predominate in the elderly. As being a fairly common clinical condition affecting all ages and requiring long-term (sometimes lifelong) treatment, epilepsy carries high health care costs for the society. Direct costs peak in the first year after diagnosis and then vary according to the severity of the disease, the response to treatment, and

Indications and expectations for neuropsychological assessment in routine epilepsy care: Report of the ILAE Neuropsychology Task Force, Diagnostic Methods Commission, 2013-2017.

Science.gov (United States)

Wilson, Sarah J; Baxendale, Sallie; Barr, William; Hamed, Sherifa; Langfitt, John; Samson, Séverine; Watanabe, Masako; Baker, Gus A; Helmstaedter, Christoph; Hermann, Bruce P; Smith, Mary-Lou

2015-05-01

The International League Against Epilepsy (ILAE) Diagnostic Methods Commission charged the Neuropsychology Task Force with the job of developing a set of recommendations to address the following questions: (1) What is the role of a neuropsychological assessment? (2) Who should do a neuropsychological assessment? (3) When should people with epilepsy be referred for a neuropsychological assessment? and (4) What should be expected from a neuropsychological assessment? The recommendations have been broadly written for health care clinicians in established epilepsy settings as well as those setting up new services. They are based on a detailed survey of neuropsychological assessment practices across international epilepsy centers, and formal ranking of specific recommendations for advancing clinical epilepsy care generated by specialist epilepsy neuropsychologists from around the world. They also incorporate the latest research findings to establish minimum standards for training and practice, reflecting the many roles of neuropsychological assessment in the routine care of children and adults with epilepsy. The recommendations endorse routine screening of cognition, mood, and behavior in new-onset epilepsy, and describe the range of situations when more detailed, formal neuropsychological assessment is indicated. They identify a core set of cognitive and psychological domains that should be assessed to provide an objective account of an individual's cognitive, emotional, and psychosocial functioning, including factors likely contributing to deficits identified on qualitative and quantitative examination. The recommendations also endorse routine provision of feedback to patients, families, and clinicians about the implications of the assessment results, including specific clinical recommendations of what can be done to improve a patient's cognitive or psychosocial functioning and alleviate the distress of any difficulties identified. By canvassing the breadth and depth

Psychological treatments for adults and children with epilepsy: Evidence-based recommendations by the International League Against Epilepsy Psychology Task Force.

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Michaelis, Rosa; Tang, Venus; Goldstein, Laura H; Reuber, Markus; LaFrance, William Curt; Lundgren, Tobias; Modi, Avani C; Wagner, Janelle L

2018-06-19

Given the significant impact that psychosocial factors and epilepsy treatments can have on the health-related quality of life (HRQOL) of individuals with epilepsy and their families, there is great clinical interest in the role of psychological evaluation and treatments to improve HRQOL and comorbidities. Therefore, the International League Against Epilepsy (ILAE) charged the Psychology Task Force with the development of recommendations for clinical care based on evaluation of the evidence from their recent Cochrane review of psychological treatments in individuals with epilepsy. The literature search for a recent Cochrane review of randomized controlled trials investigating psychological treatments for individuals with epilepsy constitutes the key source of evidence for this article. To provide practical guidance to service providers, we provide ratings on study research designs based on (1) the American Academy of Neurology's Level of Evidence system and (2) the Grading of Recommendations, Assessment, Development, and Evaluation system. This paper is the culmination of an international collaboration process involving pediatric and adult psychologists, neurologists, psychiatrists, and neuropsychiatrists. The process and conclusions were reviewed and approved by the ILAE Executive Committee. The strongest evidence for psychological interventions was identified for the most common mental health problems, including depression, neurocognitive disturbances, and medication adherence. Psychological interventions targeting the enhancement of HRQOL and adherence and a decrease in comorbidity symptoms (anxiety, depression) should be incorporated into comprehensive epilepsy care. There is a range of psychological strategies (ie, cognitive behavioral therapy and mindfulness-based therapies) that show promise for improving the lives of persons with epilepsy, and clinical recommendations are provided to assist epilepsy health care providers in treating the comorbidities and

"That is how I speak nowadays" - experiences of remote communication among persons with communicative and cognitive disabilities.

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Buchholz, Margret; Ferm, Ulrika; Holmgren, Kristina

2018-06-01

The aim of the study was to explore the experiences of remote communication (i.e., communication between persons who are not in the same place) among people with communicative and cognitive disabilities. Eleven adolescents and adults were interviewed using Talking Mats and interview data was analyzed qualitatively with systematic text condensation. The use of remote communication varies between the participants. The participants also value remote communication differently. Having the possibility to choose between different means of remote communication is important. Being able to determine whether to communicate independently or with support from another person is also valued as relevant. Strategies used to manage remote communication include facilitating for the communication partner and preparing for future communication situations. Those who are able to use writing as an alternative to problematic spoken remote communication like phone calls, for example by using chat or text messaging. Decisions regarding means of communication and human support relate to the concept of self-determination. Better access to remote communication trough assistive technology such as speech synthesis and picture symbols would make remote communication easier and facilitate participation for people with communicative and cognitive disabilities. Implications for rehabilitation People with communicative and cognitive disabilities face challenges with access to remote communication. Access to communication technology including remote communication is important for self-determination, for personal safety and for overall participation in society. Communication technology should be considered in the rehabilitation process and training is crucial. To understand the possible benefits of remote communication, people with communicative and cognitive disability need to get the possibility to practice. Professionals play a key role in the assessment and intervention of remote communication for

Ancient Indian concepts about phenomenology, biology, and therapeutics of epilepsy.

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Arya, Ravindra

2018-01-01

This article discusses etiology, pathogenesis, symptoms, and treatment of epilepsy, as described in Charaka Samhitā (translation: Charaka's Compendium) and Sushruta Samhitā, the two core texts of Ayurveda, an ancient system of medicine. Ayurveda emphasized amnesia and loss of consciousness as core features of epileptic seizures (Sanskrit: apasmar; translation: apa negation, smaran memory) and recognized that seizures occur due to a disturbance in brain function or flow of "humors" to the brain. Semiology of various seizure types was well described. Epilepsy was attributed to both internal and multiple exogenous factors. Treatment of epilepsy with formulations of naturally occurring substances, their compounding and use, is described in remarkable detail. Lifestyle modifications to protect people with epilepsy are also documented. Cognitive comorbidities of epilepsy were recognized. Although none of the Ayurveda formulations have any empirical evidence supporting their safety or efficacy in the treatment of epilepsy, studies are needed to generate relevant evidence, to recognize their hazards, and to integrate traditional and complementary systems of medicine with modern health care in an informed and safe manner.

Astroglial networks and implications for therapeutic neuromodulation of epilepsy

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Mark R Witcher

2012-08-01

Full Text Available Epilepsy is a common chronic neurologic disorder affecting approximately 1 percent of the world population. More than one-third of all epilepsy patients have incompletely controlled seizures or debilitating medication side effects in spite of optimal medical management. Medically refractory epilepsy is associated with excess injury and mortality, psychosocial dysfunction, and significant cognitive impairment. Effective treatment options for these patients can be limited. The cellular mechanisms underlying seizure activity are incompletely understood, though we here describe multiple lines of evidence supporting the likely contribution of astroglia to epilepsy, with focus on individual astrocytes and their network functions. Of the emerging therapeutic modalities for epilepsy, one of the most intriguing is the field of neuromodulation. Neuromodulatory treatment, which consists of administering electrical pulses to neural tissue to modulate its activity leading to a beneficial effect, may be an option for these patients. Current modalities consist of vagal nerve stimulation, open and closed loop stimulation, and transcranial magnetic stimulation. Due to their unique properties, we here present astrocytes as likely important targets for the developing field of neuromodulation in the treatment of epilepsy.

Inclusive Education: Mobile Serious Games for People with Cognitive Disabilities

OpenAIRE

Angel Jaramillo-Alcázar; Sergio Luján-Mora; Luis Salvador-Ullauri

2018-01-01

Nowadays, the use of mobile devices is increasingly frequent. In many occasions they are used as a means of entertainment for people through video games. Serious games is a category of video games used as teaching methods in different environments. They use fun as a strategy for the learning process. However, the vast majority do not focus on vulnerable groups such as people with cognitive disabilities, because they do not consider accessibility parameters in their design. Some video games de...

Working Memory in Children with Learning Disabilities in Reading versus Spelling: Searching for Overlapping and Specific Cognitive Factors

Science.gov (United States)

Brandenburg, Janin; Klesczewski, Julia; Fischbach, Anne; Schuchardt, Kirsten; Büttner, Gerhard; Hasselhorn, Marcus

2015-01-01

In transparent orthographies like German, isolated learning disabilities in either reading or spelling are common and occur as often as a combined reading and spelling disability. However, most issues surrounding the cognitive causes of these isolated or combined literacy difficulties are yet unresolved. Recently, working memory dysfunctions have…

Déjà Experiences in Temporal Lobe Epilepsy

OpenAIRE

Illman, Nathan A.; Butler, Chris R.; Souchay, Celine; Moulin, Chris J. A.

2012-01-01

Historically, déjà vu has been linked to seizure activity in temporal lobe epilepsy, and clinical reports suggest that many patients experience the phenomenon as a manifestation of simple partial seizures. We review studies on déjà vu in epilepsy with reference to recent advances in the understanding of déjà vu from a cognitive and neuropsychological standpoint. We propose a decoupled familiarity hypothesis, whereby déjà vu is produced by an erroneous feeling of familiarity which is not in ...

Disparities in epilepsy: Report of a systematic review by the North American Commission of the International League Against Epilepsy

Science.gov (United States)

Burneo, Jorge G.; Jette, Nathalie; Theodore, William; Begley, Charles; Parko, Karen; Thurman, David J.; Wiebe, Samuel

2011-01-01

Summary Purpose We undertook a systematic review of the evidence on disparities in epilepsy with a focus on North American data (Canada, United States, and the English-speaking Caribbean). Methods We identified and evaluated: access to and outcomes following medical and surgical treatment, disability, incidence and prevalence, and knowledge and attitudes. An exhaustive search (1965–2007) was done, including: (1) disparities by socioeconomic status (SES), race/ethnicity, age, or education of subgroups of the epilepsy population; or (2) disparities between people with epilepsy (PWE) and healthy people or with other chronic illnesses. Results From 1,455 citations, 278 eligible abstracts were identified and 44 articles were reviewed. Comparative research data were scarce in all areas. PWE have been shown to have lower education and employment status; among PWE, differences in access to surgery have been shown by racial/ethnic groups. Aboriginals, women, and children have been shown to differ in use of health resources. Poor compliance has been shown to be associated with lower SES, insufficient insurance, poor relationship with treating clinicians, and not having regular responsibilities. Discussion Comprehensive, comparative research on all aspects of disparities in epilepsy is needed to understand the causes of disparities and the development of any policies aimed at addressing health disparities and minimizing their impact. PMID:19732134

The effect of antiepileptic drugs on cognitive functions

Directory of Open Access Journals (Sweden)

A. S. Kotov

2013-01-01

Full Text Available Impaired cognitive function is a common problem in epileptic patients. The exact cause of cognitive impairment in case of epilepsy has not been explored fully, but there is no doubt that a role in this is played by three factors: the disease underlying epilepsy; epileptic seizures proper; and negative side effects of antiepileptic drugs. Their cognitive effects are one of the major problems affecting the tolerance of therapy. The review considers the effects of phenobarbital, phenytoin, carbamazepine, valproates, oxcarbazepine, topiramate, lamotrigine, and levetiracetam in terms of their action on the cognitive function of healthy volunteers and epileptic patients.

Cognitive Theory of Multimedia Learning, Instructional Design Principles, and Students with Learning Disabilities in Computer-Based and Online Learning Environments

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Greer, Diana L.; Crutchfield, Stephen A.; Woods, Kari L.

2013-01-01

Struggling learners and students with Learning Disabilities often exhibit unique cognitive processing and working memory characteristics that may not align with instructional design principles developed with typically developing learners. This paper explains the Cognitive Theory of Multimedia Learning and underlying Cognitive Load Theory, and…

The effect of cognitive education on the performance of students with neurological developmental disabilities.

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Jepsen, Ruthanne H; VonThaden, Karen

2002-01-01

A cognitive education program was developed to facilitate acquisition of cognitive skills and address the learning deficits of adolescent students with neurological, developmental disabilities, and autism. This study examined the outcomes of incorporating mediated cognitive education into special education classrooms. Cognitive education provided cognitive training utilizing REHABIT materials through mediated teaching. Following a matched pair model, forty-six students were assigned to either a treatment or a control group. All students received weekly instruction in Individual Educational Program (IEP) goals. Curriculum areas included IEP objectives in reading, math, social skills, health, science and social studies. Students in the control group received regular classroom instruction. Students in the treatment group participated in cognitive educated one hour per week replacing thirty minutes of reading and thirty minutes of math. Pre and posttest comparisons on measures of intelligence, achievement and adaptive behavior showed those students in the treatment group attained higher scores across measures.

Psychosocial aspects of epilepsy in Nigeria: a review

African Journals Online (AJOL)

issues, quality of life, cognition, school performance, treatment issues and Nigeria. .... epilepsy are more likely to experience anxiety, depression and low self .... aged 12 to 18 years (n = 73) over the past academic year with the grades of their ...

Burden, causes, and outcomes of people with epilepsy admitted to a rural hospital in Kenya.

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Kariuki, Symon M; Chengo, Eddie; Ibinda, Fredrick; Odhiambo, Rachael; Etyang, Anthony; Ngugi, Anthony K; Newton, Charles R J C

2015-04-01

People with epilepsy (PWE) develop complications and comorbidities often requiring admission to hospital, which adds to the burden on the health system, particularly in low-income countries. We determined the incidence, disability-adjusted life years (DALYs), risk factors, and causes of admissions in PWE. We also examined the predictors of prolonged hospital stay and death using data from linked clinical and demographic surveillance system. We studied children and adults admitted to a Kenyan rural hospital, between January 2003 and December 2011, with a diagnosis of epilepsy. Poisson regression was used to compute incidence and rate ratios, logistic regression to determine associated factors, and the DALY package of the R-statistical software to calculate years lived with disability (YLD) and years of life lost (YLL). The overall incidence of admissions was 45.6/100,000 person-years of observation (PYO) (95% confidence interval [95% CI] 43.0-48.7) and decreased with age (p causes of admission were epilepsy-related complications: convulsive status epilepticus (CSE) (38%), and postictal coma (12%). Age was independently associated with prolonged hospital stay (OR 1.02, 95% CI 1.00-1.04) and mortality (OR, 1.07, 95% CI 1.04-1.10). Epilepsy is associated with significant number of admissions to hospital, considerable duration of admission, and mortality. Improved supply of AEDs in the community, early initiation of treatment, and adherence would reduce hospitalization of PWE and thus the burden of epilepsy on the health system. © 2015 The Authors. Epilepsia published by Wiley Periodicals, Inc. on behalf of International League Against Epilepsy.

Treatment Resistant Epilepsy in Autism Spectrum Disorder: Increased Risk for Females.

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Blackmon, Karen; Bluvstein, Judith; MacAllister, William S; Avallone, Jennifer; Misajon, Jade; Hedlund, Julie; Goldberg, Rina; Bojko, Aviva; Mitra, Nirmala; Giridharan, Radha; Sultan, Richard; Keller, Seth; Devinsky, Orrin

2016-02-01

The male:female ratio in autism spectrum disorder (ASD) averages greater than 4:1 while the male:female ratio of ASD with epilepsy averages less than 3:1. This indicates an elevated risk of epilepsy in females with ASD; yet, it is unknown whether phenotypic features of epilepsy and ASD differ between males and females with this comorbidity. The goal of this study is to investigate sex differences in phenotypic features of epilepsy and ASD in a prospective sample of 130 children and young adults with an initial ASD diagnosis and subsequent epilepsy diagnosis. All participants were characterized by standardized diagnostic inventories, parent/caregiver completed questionnaires, and medical/academic record review. Diagnostic classifications of epilepsy, ASD, and intellectual disability were performed by board certified neurologists and a pediatric neuropsychologist. Results demonstrated a lower male:female ratio (1.8:1) in individuals with ASD and treatment-resistant epilepsy relative to those with ASD and treatment-responsive epilepsy (4.9:1), indicating a higher risk of treatment-resistant epilepsy in females. Mild neuroimaging abnormalities were more common in females than males and this was associated with increased risk of treatment-resistance. In contrast, ASD symptom severity was lower in females compared with males. Findings distinguish females with ASD and epilepsy as a distinct subgroup at higher risk for a more severe epilepsy phenotype in the context of a less severe ASD phenotype. Increased risk of anti-epileptic treatment resistance in females with ASD and epilepsy suggests that comprehensive genetic, imaging, and neurologic screening and enhanced treatment monitoring may be indicated for this subgroup. Autism Res 2016, 9: 311-320. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

An Adapted Wayfinding System for Pedestrians with Cognitive Disabilities

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Javier Gomez

2015-01-01

Full Text Available This paper presents a novel wayfinding system adapted to people with cognitive disabilities. It adapts to the user in terms of route calculation, instructions delivery, and interface design. To do so, the system divides the calculated route into atomic instructions and uses street-level photographs at the decision points. To evaluate this approach, we compared it with a commercial navigation application on a field trial with a sample of users (N = 18. From the evaluation, we concluded that our system improves users’ performance in terms of the number who reached the destination and were able to identify it correctly.

The Comparison of the Effectiveness of Cognitive and Cognitive-Metacognitive Strategies based on Mathematical Problem-Solving Skills on 9th Grade Girl Students with Intellectual Disability

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Seyyedeh Somayyeh Jalil-Abkenar

2012-01-01

Full Text Available Objective: The purpose of present research was the comparison of the effectiveness of cognitive & cognitive-metacognitive strategies based on mathematical problem-solving skills on 9th grade girl students with intellectual disability in Tehran Province. Materials & Methods: The research is an experimental, comparing pre-test and post-test data. The participants were chosen by cluster sampling from three schools three districts of Tehran Province (Gharchak, Shahrerey and Shahryar. Fifteen female students with Intellectual disability were assigned from each school and they were divided into three, one control and two experiment groups. For experimental groups students cognitive & cognitive-metacognitive strategies were taught in the 15 instructional sessions, but the control group students did not receive none of strategies in the same sessions. The instruments consist of Wechsler intelligence test was used for matching the groups in terms of IQ, a teacher performed the tests for mathematical problem-solving and instructional pakage of cognitive and cognitive-metacognitive strategies. The data analysis was done by using descriptive statistics (mean, standard deviation and frequency table and ANCOVA. Results: The findings of this research showed that there was significant increasing in mathematical problem-solving skills in the group receiving cognitive-metacognitive strategies in comparison with the cognitive group (P<0.005 and control group (P<0.001. Beside, the mean difference of the cognitive group was significantly more than the control group (P<0.003. Conclusion: The mathematical problem-solving skill of the students have been improved through cognitive-metacognitive and cognitive strategies. Also, the instruction of cognitive-metacognitive strategies, in compared with cognitive strategy caused more improvement on the performance of mathematical problem-solving skills.

Impact of epilepsy on children and parents in Gabon.

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Ibinga, Euloge; Ngoungou, Edgard Brice; Olliac, Bertrand; Hounsossou, Cocou Hubert; Dalmay, François; Mouangue, Gertrude; Ategbo, Simon Jonas; Preux, Pierre-Marie; Druet-Cabanac, Michel

2015-03-01

Children with epilepsy and their parents face many social and psychological difficulties that remain insufficiently studied in sub-Saharan Africa. The aim here was to assess the quality of life of children with epilepsy and their parents. A community-based cross-sectional survey was conducted in two urban areas and four rural areas of Gabon. Children were screened through key informants, medical sources, and a door-to-door survey. They were clinically selected based on their medical history and a clinical exam conducted by the investigating physician. Electroencephalography had not been carried out because of a lack of material and financial resources. The quality of life of children and their parents was assessed by a structured interview of parents using a questionnaire. Of 317 suspected cases on screening, 83 children with epilepsy were identified. Their mean age was 11.9±4.4years. Twelve percent of the children had neurosensory abnormalities on clinical exam. Sixty-three percent of them attended school; factors associated with schooling were higher score on the sociability subscale, specialized medical advice, and antiepileptic drug treatment. Sociability difficulties, anxiety, cognitive impairment, and behavioral disorders were suspected in 39.8%, 45.8%, 49.4%, and 42.2% of children, respectively. A total of 48.2% of parents expressed a poor quality of life related to their children's illness. A higher score on the cognition subscale, urban residence, specialized medical advice, and a stable income in the household were predictive of poor parental quality of life. Epilepsy influences many aspects of a child's life and the life of the child's parents. Care should incorporate a cognitive assessment of the child and emphasize information for patients and their relatives. Copyright © 2015 Elsevier Inc. All rights reserved.

Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features.

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Yildiz Celik, Senay; Bebek, Nerses; Gurses, Candan; Baykan, Betul; Gokyigit, Aysen

2018-03-23

Phenylketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy. Three patients with PKU and epilepsy were recognized to have reflex epileptic features, and there were ten consecutive adult patients with PKU and epilepsy who were evaluated retrospectively. Medical history, ages at diagnosis and therapy onset, age at seizure onset, seizure types and reflex features, neurological findings, cranial imaging, electroencephalography (EEG) findings, and final clinical condition were evaluated. Reflex epilepsy features were examined in detail. The cases (6 females, 4 males) were diagnosed at ages between 3.5months and 12years. All patients had various degrees of mental-motor retardation and focal or generalized seizures with age at seizure onset varied between neonatal period and 15years. Three patients had febrile seizure, 3 patients had myoclonia, and 3 patients had status epilepticus. All patients had abnormal EEG findings except one. There was a slowing of background activity, and generalized discharges were observed in 7 patients; 3 of them had asymmetrical discharges. One patient had right hippocampal sclerosis (HS), and another patient had hypointensities in the basal ganglia and corpus callosum. Reflex features were clinically observed in 3 of the patients; however, EEG results did not show any related findings. One patient had reflex seizures triggered by photic stimuli, hot water, and startling; one by photic stimuli; and the other one by startling. Reports on the clinical and electrophysiological features of adult patients with PKU were scant. We emphasized that reflex clinical features may be observed in this metabolic disease, and focal epileptiform abnormalities and asymmetry

Computerised cognitive-behavioural therapy for adults with intellectual disability: randomised controlled trial.

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Cooney, Patricia; Jackman, Catherine; Coyle, David; O'Reilly, Gary

2017-08-01

Background Despite the evidence base for computer-assisted cognitive-behavioural therapy (CBT) in the general population, it has not yet been adapted for use with adults who have an intellectual disability. Aims To evaluate the utility of a CBT computer game for adults who have an intellectual disability. Method A 2 × 3 (group × time) randomised controlled trial design was used. Fifty-two adults with mild to moderate intellectual disability and anxiety or depression were randomly allocated to two groups: computerised CBT (cCBT) or psychiatric treatment as usual (TAU), and assessed at pre-treatment, post-treatment and 3-month follow-up. Forty-nine participants were included in the final analysis. Results A significant group × time interaction was observed on the primary outcome measure of anxiety (Glasgow Anxiety Scale for people with an Intellectual Disability), favouring cCBT over TAU, but not on the primary outcome measure of depression (Glasgow Depression Scale for people with a Learning Disability). A medium effect size for anxiety symptoms was observed at post-treatment and a large effect size was observed after follow-up. Reliability of Change Indices indicated that the intervention produced clinically significant change in the cCBT group in comparison with TAU. Conclusions As the first application of cCBT for adults with intellectual disability, this intervention appears to be a useful treatment option to reduce anxiety symptoms in this population. © The Royal College of Psychiatrists 2017.

Diagnosing and Solving School Learning Disabilities in Epilepsy: Part 5, School and Psychological Testing

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Mittan, Robert J.

2010-01-01

In the last article, the author covered the social and psychological causes to learning difficulty that can be created by epilepsy. Over the last two articles, the author gained a fairly complete picture of problems that may be due to the physical disorder of epilepsy and problems due to its unique impact on the social aspects of the classroom. In…

Noninvasive treatment alternative for intractable startle epilepsy

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Sylvia Klinkenberg

2014-01-01

Full Text Available We describe a treatment alternative for intractable, startle-provoked, epileptic seizures in four children aged between 8 and 14. Three of the four children had symptomatic localization-related epilepsy. They all suffered from intractable epilepsy precipitated by sudden sounds. The fact that seizures tended to occur with high frequency – more than one seizure a day – had a clear impact on daily life. Clinical seizure pattern demonstrated asymmetric tonic posturing in all four children. Three children experienced several seizure types including focal seizure onset. All children had focal neurological signs or learning disabilities or a combination of both. Our noninvasive treatment method using psychoeducational counseling and sound generators was applied in four children, resulting in a seizure frequency reduction of ≥50% in two of them.

Sleep-disordered breathing in epilepsy: epidemiology, mechanisms, and treatment.

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Sivathamboo, Shobi; Perucca, Piero; Velakoulis, Dennis; Jones, Nigel C; Goldin, Jeremy; Kwan, Patrick; O'Brien, Terence J

2018-04-01

Epilepsy is a group of neurological conditions in which there is a pathological and enduring predisposition to generate recurrent seizures. Evidence over the last few decades suggests that epilepsy may be associated with increased sleep-disordered breathing, which may contribute towards sleep fragmentation, daytime somnolence, reduced seizure control, and cardiovascular-related morbidity and mortality. Chronic sleep-disordered breathing can result in loss of gray matter and cause deficits to memory and global cognitive function. Sleep-disordered breathing is a novel and independent predictor of sudden cardiac death and, as such, may be involved in the mechanisms leading to sudden unexpected death in epilepsy. Despite this, the long-term consequences of sleep-disordered breathing in epilepsy remain unknown, and there are no guidelines for screening or treating this population. There is currently insufficient evidence to indicate continuous positive airway pressure (CPAP) for the primary or secondary prevention of cardiovascular disease, and recent evidence has failed to show any reduction of fatal or nonfatal cardiovascular endpoints. Treatment of sleep-disordered breathing may potentially improve seizure control, daytime somnolence, and neurocognitive outcomes, but few studies have examined this relationship. In this review, we examine sleep-disordered breathing in epilepsy, and discuss the potential effect of epilepsy treatments. We consider the role of CPAP and other interventions for sleep-disordered breathing and discuss their implications for epilepsy management.

Efficacy and cognitive side effects of tiagabine and topiramate in patients with epilepsy.

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Fritz, N; Glogau, S; Hoffmann, J; Rademacher, M; Elger, C E; Helmstaedter, C

2005-05-01

Whereas the efficacy of the newer antiepileptic drugs (AEDs) is well established, there remain questions regarding their cognitive side effects. Therefore, we performed a comparative open randomized trial with TPM and TGB as add-on therapy, with particular consideration of cognition, mood, and health-related quality of life (HRQOL). Forty-one patients with refractory epilepsy were randomly assigned to one of the two treatment groups (TPM vs TGB) and received neuropsychological testing at baseline (T1), after titration (3 months, T2), and during the maintenance phase (another 3 months, T3). Tests included measures of intelligence, attention, working memory, episodic memory, language, and self-report questionnaires regarding mood and HRQOL. Twenty patients (8 TPM, 12 TGB) discontinued the trial for different reasons (no group difference). Seizure outcome (intention-to-treat analysis) was comparably good in both groups (8.1% seizure free, 29.7% seizure reduction>50%). From baseline to after the titration paired sample t tests revealed significant deterioration in verbal fluency, language comprehension, working memory, and visual block tapping under TPM and a deterioration in verbal memory (delayed free recall) in the TGB group. These functions remained stable in the maintenance phase. Self-report measures initially indicated concerns about AED side effects in both groups and concerns about worse cognitive functioning and depression under TPM. In the maintenance phase the TGB group reported feeling a lack of energy, whereas patients on TPM demonstrated improvement on all QOLIE scales on a descriptive level. This study demonstrates the comparable efficacy of TPM and TGB. Consistent with previous reports, TPM but not TGB appears to be associated with persistent negative cognitive side effects on frontal lobe-associated functions, the degree of which may be estimated by the fact that this effect was observed with a very small sample size. In contrast, in patients taking

Relationships between Cattell-Horn-Carroll (CHC) Cognitive Abilities and Math Achievement within a Sample of College Students with Learning Disabilities

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Proctor, Briley

2012-01-01

This study examined the relationship between cognitive abilities and math achievement within a sample of college students with learning disabilities (LD). The cognitive abilities were seven areas identified by Stratum II of the Cattell-Horn-Carroll (CHC) theory of cognitive abilities, in addition to the eighth area of Working Memory. Math…

Memory and phonological awareness in children with Benign Rolandic Epilepsy compared to a matched control group.

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Northcott, Ellen; Connolly, Anne M; Berroya, Anna; McIntyre, Jenny; Christie, Jane; Taylor, Alan; Bleasel, Andrew F; Lawson, John A; Bye, Ann M E

2007-06-01

In a previous study we demonstrated children with Benign Rolandic Epilepsy have normal intelligence and language ability. However, difficulties in verbal and visual memory and aspects of phonological awareness were found compared to normative data. To address the methodological limitations related to the use of normative data, we compared the same cohort of children with Benign Rolandic Epilepsy to a matched control group. Controls (n=40) matched on age and gender to the Benign Rolandic Epilepsy cohort underwent neuropsychological assessment. The life functioning of the control group was assessed using a modified version of the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE). The study confirmed the previous findings of memory and phonological awareness difficulties. In addition, the children with Benign Rolandic Epilepsy had significantly lower IQ scores than the matched control group. Paired sample t-tests showed that on 8 of 11 QOLCE scales, children with Benign Rolandic Epilepsy were rated by parents as having poorer life functioning compared to matched controls, including lower parental ratings on the subscales of memory and language. Benign Rolandic Epilepsy has an excellent seizure prognosis, but this study further emphasizes potential cognitive difficulties. Using an age and gender matched control group, the previous findings of memory and phonological awareness difficulties were validated. These problems in cognition were also identified by parents of children with Benign Rolandic Epilepsy as problematic and impacting upon the child's quality of life.

Translational Advancement of Somatostatin Gene Delivery for Disease Modification and Cognitive Sparing in Intractable Epilepsy

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2015-09-01

seizures. A thoroughly characterized rodent epilepsy model will be used as a platform to test the hypotheses. In this model temporal lobe electrical...expression in the hippocampus resected from a young temporal lobe epilepsy patient. Post-baccalaureate student Andrew Moss has since expanded this project...somatostatin gene delivery persistently reduces seizure severity in a rat model of temporal lobe epilepsy , Gowri Natarajan, Jessica Anne McElroy

Staff Expectations and Views of Cognitive Behaviour Therapy (CBT) for Adults with Intellectual Disabilities

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Kroese, Biza Stenfert; Jahoda, Andrew; Pert, Carol; Trower, Peter; Dagnan, Dave; Selkirk, Mhairi

2014-01-01

Background: The role of support workers and other professionals in the psychotherapeutic process has been commented upon but not as yet been systematically investigated. Method: To explore their views and expectations of cognitive behaviour therapy (CBT) for adults with intellectual disabilities, eleven paid support workers and professionals were…

Epilepsi

DEFF Research Database (Denmark)

Sabers, Anne; Kjær, Troels W

2014-01-01

Epilepsy affects around 33,000 people in Denmark. The classification of the epilepsies is currently under revision and the clinical course of the disease depends on the underlying aetiology. Diagnostic evaluation includes EEG and often long-term video-EEG monitoring to ensure the diagnosis and clas......-sification. More than two thirds of patients with epilepsy can obtain complete seizure control. The remainders, counting around 12.000 patients in Denmark, having medical refractory epilepsy should be considered for other treatment options; epilepsy surgery or other non-pharmacological treatment....

Genetic and epigenetic mechanisms of epilepsy: a review

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Chen T

2017-07-01

Full Text Available Tian Chen,1,* Mohan Giri,2,* Zhenyi Xia,3 Yadu Nanda Subedi,2 Yan Li1 1Department of Health Management Center, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China; 2National Center for Rheumatic Diseases, Ratopul, Gaushala, Kathmandu, Nepal; 3Department of Thoracic Surgery, Chongqing Three Gorges Central Hospital, Chongqing, People’s Republic of China *These authors contributed equally to this work Abstract: Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11.2-q13.3, and 16p13.11-p13.2, some of which disrupt multiple genes, such as NRXN1, AUTS2, NLGN1, CNTNAP2, GRIN2A, PRRT2, NIPA2, and BMP5, implicated for neurodevelopmental disorders, including intellectual disability and autism. Unfortunately, only a few common genetic variants have been associated with epilepsy. Recent exome-sequencing studies have found some genetic mutations, most of which are located in nonion channel genes such as the LGI1, PRRT2, EFHC1, PRICKLE, RBFOX1, and DEPDC5 and in probands with rare forms of familial epilepsy, and some of these genes are involved with the neurodevelopment. Since epigenetics plays a role in neuronal function from embryogenesis and early brain development to tissue-specific gene expression, epigenetic regulation may contribute to the genetic mechanism of neurodevelopment through which a gene and the environment interacting with each other affect the development of epilepsy. This review focused on the analytic tools used to identify epilepsy and then provided a

Genetics Home Reference: SYNGAP1-related intellectual disability

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... intellectual disability develops epilepsy, and about half have autism spectrum disorder . Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy.

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El Achkar, Christelle M; Spence, Sarah J

2015-06-01

The association between autism spectrum disorder (ASD) and epilepsy has been described for decades, and yet we still lack the full understanding of this relationship both clinically and at the pathophysiologic level. This review evaluates the available data in the literature pertaining to the clinical characteristics of patients with autism spectrum disorder who develop epilepsy and, conversely, patients with epilepsy who develop autism spectrum disorder. Many studies demonstrate an increased risk of epilepsy in individuals with ASD, but rates vary widely. This variability is likely secondary to the different study methods employed, including the study population and definitions of the disorders. Established risk factors for an increased risk of epilepsy in patients with ASD include intellectual disability and female gender. There is some evidence of an increased risk of epilepsy associated with other factors such as ASD etiology (syndromic), severity of autistic features, developmental regression, and family history. No one epilepsy syndrome or seizure type has been associated, although focal or localization-related seizures are often reported. The age at seizure onset can vary from infancy to adulthood with some evidence of a bimodal age distribution. The severity and intractability of epilepsy in populations with ASD have not been well studied, and there is very little investigation of the role that epilepsy plays in the autism behavioral phenotype. There is evidence of abnormal EEGs (especially epileptiform abnormalities) in children with ASD even in the absence of clinical seizures, but very little is known about this phenomenon and what it means. The development of autism spectrum disorder in patients with epilepsy is less well studied, but there is evidence that the ASD risk is greater in those with epilepsy than in the general population. One of the risk factors is intellectual disability, and there is some evidence that the presence of a particular seizure

Increased cortical and deep grey matter sodium concentration is associated with physical and cognitive disability in relapse-onset multiple sclerosis

DEFF Research Database (Denmark)

Brownlee, WJ; Alves Da Mota, Patricia; Prados, Ferran

digit modalities test (SDMT) and tests of verbal and visual memory. Linear regression was used to compare differences in tissue TSC between groups. Multivariable linear regression was used to identify independent associations between TSC and disability with adjustment for age, sex, disease duration......=0.40) and visual memory (β=-0.06, 95%CI -0.11, -.0.02, R2=0.19). Conclusion: Sodium accumulation in cortical and deep grey matter may reflect underlying neurodegeneration that is relevant to the development of long-term disability and cognitive impairment in relapse-onset MS. 23Na-MRI may become a secondary......-appearing white matter (NAWM), T1-isointense and T1-hypointense lesions was calculated. Physical disability was assessed using the Expanded Disability Status Scale (EDSS), timed 25-foot walk test (TWT) and 9-hole peg test (9HPT). Cognition was assessed using the paced auditory serial addition test (PASAT), symbol...

Subtle alterations in memory systems and normal visual attention in the GAERS model of absence epilepsy.

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Marques-Carneiro, J E; Faure, J-B; Barbelivien, A; Nehlig, A; Cassel, J-C

2016-03-01

Even if considered benign, absence epilepsy may alter memory and attention, sometimes subtly. Very little is known on behavior and cognitive functions in the Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model of absence epilepsy. We focused on different memory systems and sustained visual attention, using Non Epileptic Controls (NECs) and Wistars as controls. A battery of cognitive/behavioral tests was used. The functionality of reference, working, and procedural memory was assessed in the Morris water maze (MWM), 8-arm radial maze, T-maze and/or double-H maze. Sustained visual attention was evaluated in the 5-choice serial reaction time task. In the MWM, GAERS showed delayed learning and less efficient working memory. In the 8-arm radial maze and T-maze tests, working memory performance was normal in GAERS, although most GAERS preferred an egocentric strategy (based on proprioceptive/kinesthetic information) to solve the task, but could efficiently shift to an allocentric strategy (based on spatial cues) after protocol alteration. Procedural memory and visual attention were mostly unimpaired. Absence epilepsy has been associated with some learning problems in children. In GAERS, the differences in water maze performance (slower learning of the reference memory task and weak impairment of working memory) and in radial arm maze strategies suggest that cognitive alterations may be subtle, task-specific, and that normal performance can be a matter of strategy adaptation. Altogether, these results strengthen the "face validity" of the GAERS model: in humans with absence epilepsy, cognitive alterations are not easily detectable, which is compatible with subtle deficits. Copyright © 2016 IBRO. Published by Elsevier Ltd. All rights reserved.

Frontal and temporal volumes in Childhood Absence Epilepsy.

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Caplan, Rochelle; Levitt, Jennifer; Siddarth, Prabha; Wu, Keng Nei; Gurbani, Suresh; Sankar, Raman; Shields, W Donald

2009-11-01

This study compared frontotemporal brain volumes in children with childhood absence epilepsy (CAE) to age- and gender-matched children without epilepsy. It also examined the association of these volumes with seizure, demographic, perinatal, intelligence quotient (IQ), and psychopathology variables. Twenty-six children with CAE, aged 7.5-11.8 years, and 37 children without epilepsy underwent brain magnetic resonance imaging (MRI) scans at 1.5 Tesla. Tissue was segmented, and total brain, frontal lobe, frontal parcellations, and temporal lobe volumes were computed. All children had IQ testing and structured psychiatric interviews. Parents provided seizure, perinatal, and behavioral information on each child. The CAE group had significantly smaller gray matter volumes of the left orbital frontal gyrus as well as both left and right temporal lobes compared to the age- and gender-matched children without epilepsy. In the CAE group these volumes were related to age, gender, ethnicity, and pregnancy complications but not to seizure, IQ, and psychopathology variables. In the group of children without epilepsy, however, the volumes were related to IQ. These findings suggest that CAE impacts brain development in regions implicated in behavior, cognition, and language. In addition to supporting the cortical focus theory of CAE, these findings also imply that CAE is not a benign disorder.

The interrelationships between motor, cognitive, and language development in children with and without intellectual and developmental disabilities.

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Houwen, Suzanne; Visser, Linda; van der Putten, Annette; Vlaskamp, Carla

2016-01-01

It is generally agreed that cognitive and language development are dependent on the emergence of motor skills. As the literature on this issue concerning children with developmental disabilities is scarce, we examined the interrelationships between motor, cognitive, and language development in children with intellectual and developmental disabilities (IDD) and compared them to those in children without IDD. In addition, we investigated whether these relationships differ between children with different levels of cognitive delay. Seventy-seven children with IDD (calendar age between 1;0 and 9;10 years; mean developmental age: 1;8 years) and 130 typically developing children (calendar age between 0;3 and 3;6 years; mean developmental age: 1;10 years) were tested with the Dutch Bayley Scales of Infant and Toddler Development, Third Edition, which assesses development across three domains using five subscales: fine motor development, gross motor development (motor), cognition (cognitive), receptive communication, and expressive communication (language). Results showed that correlations between the motor, cognitive, and language domains were strong, namely .61 to .94 in children with IDD and weak to strong, namely .24 to .56 in children without IDD. Furthermore, the correlations showed a tendency to increase with the severity of IDD. It can be concluded that both fine and gross motor development are more strongly associated with cognition, and consequently language, in children with IDD than in children without IDD. The findings of this study emphasize the importance of early interventions that boost both motor and cognitive development, and suggest that such interventions will also enhance language development. Copyright © 2016 Elsevier Ltd. All rights reserved.

Talking about epilepsy: Challenges parents face when communicating with their child about epilepsy and epilepsy-related issues.

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O'Toole, Stephanie; Lambert, Veronica; Gallagher, Pamela; Shahwan, Amre; Austin, Joan K

2016-04-01

The aim of this qualitative study was to explore the challenges that parents of children with epilepsy experienced when engaging in dialog with their child about epilepsy and epilepsy-related issues. Using a qualitative exploratory approach, interviews were conducted with 34 parents of children with epilepsy (aged 6-16 years), consisting of 27 mothers and 7 fathers. Data were transcribed verbatim and thematically analyzed. Findings revealed five main themes: normalizing epilepsy, the invisibility of epilepsy, information concealment, fear of misinforming the child, and difficulty in discussing particular epilepsy-related issues. Many of the communicative challenges experienced by parents impacted on their ability to engage openly in parent-child dialog about epilepsy in the home. Parents face specific challenges when choosing to communicate with their child about epilepsy, relating to creating a sense of normality, reducing fear of causing their child worry, and having a lack of epilepsy-related knowledge. Healthcare professionals who work closely with families living with epilepsy should remain mindful of the importance of discussing family communication surrounding epilepsy and the challenges parents of children with epilepsy face when talking about epilepsy within the home. Copyright © 2016 Elsevier Inc. All rights reserved.

Sudden Unexpected Death in Epilepsy Among Patients With Benign Childhood Epilepsy With Centrotemporal Spikes.

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Doumlele, Kyra; Friedman, Daniel; Buchhalter, Jeffrey; Donner, Elizabeth J; Louik, Jay; Devinsky, Orrin

2017-06-01

Children with benign epilepsy with centrotemporal spikes (BECTS) have traditionally been considered to have a uniformly good prognosis. However, benign may be a misnomer because BECTS is linked to cognitive deficits, a more severe phenotype with intractable seizures, and the potential for sudden unexpected death in epilepsy (SUDEP). To determine if cases of BECTS are present in the North American SUDEP Registry (NASR). The NASR is a clinical and biospecimen repository established in 2011 to promote SUDEP research. The NASR database, which includes medical records, results of electroencephalographic tests, and interviews with family members of patients with epilepsy who died suddenly without other identifiable causes of death, was queried from June 3, 2011, to June 3, 2016, for cases of BECTS. The patients with epilepsy had died suddenly without other identifiable causes of death (eg, drowning, trauma, exposure to toxic substances, or suicide); SUDEP classification was determined by the consensus of 2 epileptologists. Cases of SUDEP among children who received a diagnosis of BECTS among patients reported in the NASR. Three boys (median age at death, 12 years; range, 9-13 years) who received a diagnosis of BECTS by their pediatric epileptologist or neurologists were identified among 189 cases reported in the NASR. The median age of epilepsy onset was 5 years (range, 3-11 years), and the median duration of epilepsy was 4 years (range, 1-10 years). Two deaths were definite SUDEP, and 1 was probable SUDEP. Independent review of clinical and electroencephalographic data supported the diagnosis of BECTS in all 3 patients. None of the patients was prescribed antiseizure drugs, either owing to physician recommendation or mutual decision by the physician and parents. All 3 patients were found dead in circumstances typical of SUDEP. The 3 patients spanned the spectrum of BECTS severity: 1 had only a few seizures, 1 had more than 30 focal motor seizures, and 1 had 4 witnessed

Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

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Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

2014-04-02

Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

Epilepsy

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... Epilepsia What Is Epilepsy? Epilepsy comes from a Greek word meaning "to hold or seize," and people ... for epilepsy than somebody whose family has no history of seizures. How Can Doctors Help? If a ...

Cognitive shifting and externalising problem behaviour in intellectual disability and autism spectrum disorder.

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Visser, E M; Berger, H J C; Van Schrojenstein Lantman-De Valk, H M J; Prins, J B; Teunisse, J P

2015-08-01

Behavioural problems are frequently reported in residential care for people with an intellectual disability (ID) in particular when they are additionally diagnosed with autism spectrum disorder (ASD). There are indications that impairment in cognitive shifting may be associated with problem behaviour. The objectives of this study were (1) to examine the relationship of cognitive shifting and severity of ASD symptoms with externalising problem behaviour in individuals with ID, with and without ASD, and (2) to examine whether a diagnosis based on shifting impairment is more predictive of externalising problem behaviour than an ASD diagnosis. Participants consisted of adolescents and young adults with mild ID, with and without ASD (n = 41). Pearson intercorrelations were computed to explore the relationship between shifting impairment and severity of ASD symptoms on the one hand and ratings of externalising problem behaviour on the other hand. t-Tests were performed to analyse differences in externalising problem behaviour. Unlike ASD symptom severity, shifting scores were found to be associated with externalising problem behaviour, but only if shifting was measured using rating scales and not when using neuropsychological tasks. Externalising problem behaviour scores significantly differed when groups were classified according to shifting impairment (impaired vs. non-impaired) but not when they were classified according to ID and ASD diagnoses. It is proposed to use a cognition-based approach when analysing problem behaviour, thus concentrating not so much on ID and ASD diagnosis and their corresponding symptoms, but rather placing the focus on cognitive symptoms. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Intellectual Disabilities and Neglectful Parenting: Preliminary Findings on the Role of Cognition in Parenting Risk

OpenAIRE

Azar, Sandra T.; Stevenson, Michael T.; Johnson, David R.

2012-01-01

Parents with intellectual disabilities (PID) are over-represented in the child protective services (CPS) system. This study examined a more nuanced view of the role of cognition in parenting risk. Its goal was to validate a social information processing (SIP) model of child neglect that draws on social cognition research and advances in neuroscience. Mothers who had CPS child neglect cases were compared with mothers with no CPS involvement on a set of SIP factors. Mothers with low IQs were ov...

The Experiences of High Intensity Therapists Delivering Cognitive Behavioural Therapy to People with Intellectual Disabilities

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Marwood, Hayley; Chinn, Deborah; Gannon, Kenneth; Scior, Katrina

2018-01-01

Background: People with intellectual disabilities (ID) should be able to access the Improving Access to Psychological Therapies (IAPT) programme, currently a main provider of mainstream mental health services in England. IAPT offer cognitive behavioural therapy (CBT) to individuals experiencing mental health problems, although its effectiveness…

Mortality and causes of death in children referred to a tertiary epilepsy center.

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Grønborg, Sabine; Uldall, Peter

2014-01-01

Patients with epilepsy, including children, have an increased mortality rate when compared to the general population. Only few studies on causes of mortality in childhood epilepsy exist and pediatric SUDEP rate is under continuous discussion. To describe general mortality, incidence of sudden unexpected death in epilepsy (SUDEP), causes of death and age distribution in a pediatric epilepsy patient population. The study retrospectively examined the mortality and causes of death in 1974 patients with childhood-onset epilepsy at a tertiary epilepsy center in Denmark over a period of 9 years. Cases of death were identified through their unique civil registration number. Information from death certificates, autopsy reports and medical notes were collected. 2.2% (n = 43) of the patient cohort died during the study period. This includes 9 patients with SUDEP (8 SUDEP cases per 10,000 patient years). 9 patients died in the course of neurodegenerative disease and 28 children died of various causes. Epilepsy was considered drug resistant in more than 95% of the deceased patients, 90% were diagnosed with intellectual disability. Mortality of patients that underwent dietary epilepsy treatment was slightly higher than in the general cohort. There were no epilepsy-related deaths due to drowning. This study confirms that SUDEP must not be disregarded in the pediatric age group. The vast majority of SUDEP cases in this study displays numerous risk factors similar to those described in adult epilepsy patients. Including SUDEP, only 30% of the mortality was directly seizure related. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Survival, disabilities in activities of daily living, and physical and cognitive functioning among the oldest-old in China

DEFF Research Database (Denmark)

Zeng, Yi; Feng, Qiushi; Hesketh, Therese

2017-01-01

age at the time of the assessment in the 1998 and 2008 surveys. Four health outcomes were investigated: annual death rate, Activities of Daily Living (ADL), physical performance in three tests and cognitive function measured by Mini-Mental State Examination (MMSE). We used different tests......BACKGROUND: The oldest-old (those aged ≥80 years) are the most rapidly growing age group globally, and are most in need of health care and assistance. We aimed to assess changes in mortality, disability in activities of daily living, and physical and cognitive functioning among oldest......, and that disability according to activities of daily living had significantly reduced annually between 0·8% and 2·8%. However, cognitive impairment in the later cohorts increased annually between 0·7% and 2·2% and objective physical performance capacity (standing up from a chair, picking up a book from the floor...

GxE Interactions Between FOXO Genotypes and Tea Drinking Significantly Affect Cognitive Disability at Advanced Ages in China

DEFF Research Database (Denmark)

Zeng, Yi; Chen, Huashuai; Ni, Ting

2015-01-01

Logistic regression analysis based on data from 822 Han Chinese oldest old aged 92+ demonstrated that interactions between carrying FOXO1A-266 or FOXO3-310 or FOXO3-292 and tea drinking at around age 60 or at present time were significantly associated with lower risk of cognitive disability...... at advanced ages. Associations between tea drinking and reduced cognitive disability were much stronger among carriers of the genotypes of FOXO1A-266 or FOXO3-310 or FOXO3-292 compared with noncarriers, and it was reconfirmed by analysis of three-way interactions across FOXO genotypes, tea drinking at around...... age 60, and at present time. Based on prior findings from animal and human cell models, we postulate that intake of tea compounds may activate FOXO gene expression, which in turn may positively affect cognitive function in the oldest old population. Our empirical findings imply that the health...

The role of exclusive breastfeeding in prevention of childhood epilepsy

Directory of Open Access Journals (Sweden)

Alexander Kurniadi

2015-10-01

Full Text Available Background Epilepsy affects 1% of children worldwide. The highest incidence is in the first year of life, and perinatal factors, such as hypoxic-ischemic injury, infection, and cortical malformation may play etiologic roles. Breast milk contains optimal nutrients for human brain in early life. Breastfeeding has been associated with lower risk of infections, better cognitive and psychomotor development. However, the role of breastfeeding in preventing childhood epilepsy remains unclear. Objective To evaluate an association between exclusive breastfeeding and childhood epilepsy. Methods A case-control study conducted from 1 May to 3 July 2013 involving children with epilepsy aged 6 months to 18 years who were attending pediatric outpatient clinic of Dr. Sardjito Hospital, Yogyakarta. Neurologically normal children, individually matched by age and sex, visiting the same clinic were considered as controls. Exclusion criteria were children with structural brain abnormality, history of epilepsy in family, and who had history of neonatal seizure, intracranial infection, febrile seizure, and head trauma before onset of epilepsy. History of breastfeeding was obtained by interviewing the parents. The difference of exclusively breastfeeding proportion between cases and controls was analyzed by McNemar test. Results The total number of participants was 68 cases and controls each. Subjects with epilepsy had lower proportion of exclusively breastfed (48.5% compared with controls (54.4%, but the difference was not statistically significant (P=0.541. Exclusively breastfeeding showed no statistical significance in decreasing risk of epilepsy (OR=0.71; 95%CI 0.32 to 1.61. Conclusions Exclusive breastfeeding for 4-6 months has no effect against childhood epilepsy.

The Role of Innate Immune System Receptors in Epilepsy Research.

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Cordero-Arreola, Jessica; West, Rachel M; Mendoza-Torreblanca, Julieta; Mendez-Hernandez, Edna; Salas-Pacheco, Jose; Menendez-Gonzalez, Manuel; Freire, Rafael C; Machado, Sergio; Murillo-Rodriguez, Eric; Nardi, Antonio E; Arias-Carrion, Oscar

2017-01-01

Epilepsy is one of the most complex neurological disorders and its study requires a broad knowledge of neurology and neuroscience. It comprises a diverse group of neurological disorders that share the central feature of spontaneous recurrent seizures, and are often accompanied by cognitive deficits and mood disorder. This condition is one of the most common neurological disorders. Until recently, alterations of neuronal activities had been the focus of epilepsy research. This neurocentric emphasis did not address issues that arise in more complex models of epileptogenesis. An important factor in epilepsy that is not regulated directly by neurons is inflammation and the immune response of the brain. Recent evidence obtained in rodent epilepsy models supports the role of immune responses in the initiation and maintenance of epilepsy. Recognition of exogenous pathogens by the innate immune system is mediated by some pattern recognition receptors such as Toll-like receptors leading to cell activation and cytokine production. Currently, these receptors have been the focus of epilepsy studies looking to determine whether the innate immune activation is neuroprotective or neurotoxic for the brain. Here, we present the evidence in the literature of the involvement of key innate immune receptors in the development of epilepsy. We address some of the contradictory findings in these studies and also mention possible avenues for research into epilepsy treatments that target these receptors. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Exposure to Mozart music reduces cognitive impairment in pilocarpine-induced status epilepticus rats.

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Xing, Yingshou; Qin, Yi; Jing, Wei; Zhang, Yunxiang; Wang, Yanran; Guo, Daqing; Xia, Yang; Yao, Dezhong

2016-02-01

Patients with temporal lobe epilepsy (TLE) often display cognitive deficits. However, current epilepsy therapeutic interventions mainly aim at how to reduce the frequency and degree of epileptic seizures. Recovery of cognitive impairment is not attended enough, resulting in the lack of effective approaches in this respect. In the pilocarpine-induced temporal lobe epilepsy rat model, memory impairment has been classically reported. Here we evaluated spatial cognition changes at different epileptogenesis stages in rats of this model and explored the effects of long-term Mozart music exposure on the recovery of cognitive ability. Our results showed that pilocarpine rats suffered persisting cognitive impairment during epileptogenesis. Interestingly, we found that Mozart music exposure can significantly enhance cognitive ability in epileptic rats, and music intervention may be more effective for improving cognitive function during the early stages after Status epilepticus. These findings strongly suggest that Mozart music may help to promote the recovery of cognitive damage due to seizure activities, which provides a novel intervention strategy to diminish cognitive deficits in TLE patients.

Intellectual disability in cerebral palsy: a population-based retrospective study.

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Reid, Susan M; Meehan, Elaine M; Arnup, Sarah J; Reddihough, Dinah S

2018-04-18

A population-based observational study design was used to describe the epidemiology of intellectual disability in cerebral palsy (CP) in terms of clinical and neuroimaging associations, and to report the impact of intellectual disability on utilization of health services and length of survival. Population CP registry data were used to retrospectively assess the frequency of intellectual disability and strength of associations between intellectual disability and mobility, epilepsy, vision, hearing, communication, and neuroimaging patterns (n=1141). Data linkage was undertaken to assess usage of hospital inpatient and emergency department services. Survival analysis was performed in a 30-year birth cohort (n=3248). Intellectual disability, present in 45% of the cohort, was associated with non-ambulation (47% vs 8%), later walking (mean 2y 7mo vs 1y 9mo), hypotonic (8% vs 1%) or dyskinetic (9% vs 5%) CP, a quadriplegic pattern of motor impairment (42% vs 5%), epilepsy (52% vs 12%), more emergency and multi-day hospital admissions, and reduced 35-year survival (96% vs 71%). Grey matter injuries (13% vs 6%), malformations (18% vs 6%), and miscellaneous neuroimaging patterns (12% vs 4%) were more common in people with intellectual disability. Intellectual disability adds substantially to the overall medical complexity in CP and may increase health and mortality disparities. Cerebral maldevelopments and grey matter injuries are associated with higher intellectual disability rates. Health care is more 'crisis-driven' and 'reactive' in children with co-occurring intellectual disability. Length of survival is reduced in individuals with CP and co-occurring intellectual disability. © 2018 Mac Keith Press.

Subjective Cognitive Complaints and Functional Disability in Patients With Borderline Personality Disorder and Their Nonaffected First-Degree Relatives

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Ruocco, Anthony C; Lam, Jaeger; McMain, Shelley F

2014-01-01

Objective: To examine the contributions of subjective cognitive complaints to functional disability in patients with borderline personality disorder (BPD) and their nonaffected relatives. Method: Patients with BPD (n = 26), their first-degree biological relatives (n = 17), and nonpsychiatric control subjects (n = 31) completed a self-report measure of cognitive difficulties and rated the severity of their functional disability on the World Health Organization Disability Assessment Schedule 2.0. Results: After accounting for group differences in age and severity of depressive symptoms, patients and relatives endorsed more inattention and memory problems than control subjects. Whereas probands reported greater disability than relatives and control subjects across all functional domains, relatives described more difficulties than control subjects in managing multiple life activities, including domestic activities and occupational and academic functioning, and participating in society. For both probands and relatives, inattention and memory problems were linked primarily to difficulties with life activities, independent of depression and other comorbid psychiatric disorders. Conclusions: Problems with inattention and forgetfulness may lead to difficulties carrying out activities of daily living and occupational or academic problems in patients with BPD, as well as their nonaffected first-degree relatives. PMID:25007408

Trajectories of health-related quality of life in children with epilepsy: a cohort study.

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Ferro, Mark A; Camfield, Carol S; Levin, Simon D; Smith, Mary Lou; Wiebe, Samuel; Zou, Guangyong; Speechley, Kathy N

2013-11-01

Little is known about subgroups of children with epilepsy who may experience less favorable outcomes over time. The objectives of this study were to document trajectories of health-related quality of life (HRQL) and to identify predictors of the trajectory group in children with new-onset epilepsy. Data were obtained from the Health Related Quality of Life in Children with Epilepsy Study, a prospective multisite study of children 4-12 years old with new-onset epilepsy followed for 24 months. Health-related quality of life was measured using the Quality of Life in Childhood Epilepsy questionnaire. Trajectories of HRQL were investigated using latent class trajectory modeling. Multinomial logistic regression was used to identify child, parent, and family predictors of HRQL trajectories. A total of 374 families responded at baseline and 283 (76%) completed the study. Five HRQL trajectories were observed: low-increasing (4%), moderate-decreasing (12%), moderate-increasing (22%), high-increasing (32%), and high-stable (30%). Many children in the low-increasing, moderate-increasing, high-increasing, and high-stable had clinically meaningful improvements in HRQL: 82%, 47%, 63%, and 44%, respectively. In contrast, the majority of children in the moderate-decreasing group (56%) experienced clinically meaningful declines in their HRQL. Factors predicting trajectories were number of antiepileptic drugs prescribed, presence of comorbid behavior or cognitive problems, parent depression, and family functioning and demands. Results suggested that children with epilepsy are not homogenous but rather consist of groups with different trajectories and unique predictors of HRQL. Problems associated with child behavior and cognition were the strongest predictors identified. Given that several risk factors are modifiable, it is important to examine these as potential targets within a family-centered framework to improve HRQL of children with new-onset epilepsy. Wiley Periodicals, Inc. �

Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.

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Jeong, Anna; Wong, Michael

2016-09-01

Epilepsy is one of the most disabling symptoms of tuberous sclerosis complex (TSC) and is a leading cause of morbidity and mortality in affected individuals. The relationship between systemic disease manifestations and the presence of epilepsy has not been thoroughly investigated. This study utilizes a multicenter TSC Natural History Database including 1,816 individuals to test the hypothesis that systemic disease manifestations of TSC are associated with epilepsy. Univariate analysis was used to identify patient characteristics (e.g., age, gender, race, and TSC mutation status) associated with the presence of epilepsy. Individual logistic regression models were built to examine the association between epilepsy and each candidate systemic or neurologic disease variable, controlling for the patient characteristics found to be significant on univariate analysis. Finally, a multivariable logistic regression model was constructed, using the variables found to be significant on the individual analyses as well as the patient characteristics that were significant on univariate analysis. Nearly 88% of our cohort had a history of epilepsy. After adjusting for age, gender, and TSC mutation status, multiple systemic disease manifestations including cardiac rhabdomyomas (odds ratio [OR] 2.3, 95% confidence interval [CI] 1.3-3.9, p = 0.002), retinal hamartomas (OR 2.1, CI 1.0-4.3, p = 0.04), renal cysts (OR 2.1, CI 1.3-3.4, p = 0.002), renal angiomyolipomas (OR 3.0, CI 1.8-5.1, p epilepsy. In the multivariable logistic regression model, cardiac rhabdomyomas (OR 1.9, CI 1.0-3.5, p = 0.04) remained significantly associated with the presence of epilepsy. The identification of systemic disease manifestations such as cardiac rhabdomyomas that confer a higher risk of epilepsy development in TSC could contribute to disease prognostication and assist in the identification of individuals who may receive maximal benefit from potentially novel, targeted, preventative therapies. Wiley

Epilepsy

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... eventually become less frequent or disappear altogether. What Causes Epilepsy? This's no clear-cut answer to why people ... epilepsy. Often doctors can't pinpoint the exact cause of a person's epilepsy. But scientists do know that some things can ...

Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

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Sorge, Shawn T; Hesdorffer, Dale C; Phelan, Jo C; Winawer, Melodie R; Shostak, Sara; Goldsmith, Jeff; Chung, Wendy K; Ottman, Ruth

2016-10-01

Rapid advances in genetic research and increased use of genetic testing have increased the emphasis on genetic causes of epilepsy in patient encounters. Research in other disorders suggests that genetic causal attributions can influence patients' psychological responses and coping strategies, but little is known about how epilepsy patients and their relatives will respond to genetic attributions of epilepsy. We investigated the possibility that among members of families containing multiple individuals with epilepsy, depression, the most frequent psychiatric comorbidity in the epilepsies, might be related to the perception that epilepsy has a genetic cause. A self-administered survey was completed by 417 individuals in 104 families averaging 4 individuals with epilepsy per family. Current depression was measured with the Patient Health Questionnaire. Genetic causal attribution was assessed by three questions addressing the following: perceived likelihood of having an epilepsy-related mutation, perceived role of genetics in causing epilepsy in the family, and (in individuals with epilepsy) perceived influence of genetics in causing the individual's epilepsy. Relatives without epilepsy were asked about their perceived chance of developing epilepsy in the future, compared with the average person. Prevalence of current depression was 14.8% in 182 individuals with epilepsy, 6.5% in 184 biologic relatives without epilepsy, and 3.9% in 51 individuals married into the families. Among individuals with epilepsy, depression was unrelated to genetic attribution. Among biologic relatives without epilepsy, however, prevalence of depression increased with increasing perceived chance of having an epilepsy-related mutation (p = 0.02). This association was not mediated by perceived future epilepsy risk among relatives without epilepsy. Depression is associated with perceived likelihood of carrying an epilepsy-related mutation among individuals without epilepsy in families containing

Study of efficacy of the combination of carbamazepine with nootropics on cognitive processes in epilepsy

Directory of Open Access Journals (Sweden)

Ivanov A.V.

2013-03-01

Full Text Available The authors studied the efficacy of combination of carbamazepine with nootropic drugs on cognitive processes in patients with epilepsy in experiment in order to reduce the side effects of anticonvulsant therapy. Analysis of anticonvulsant effect of the combination of drugs was carried out on 36 white nonlinear rats of both sexes weighing 160-180 g by the method of maximum electroshock, and the analysis of antiamnestic effect - using a model of retrograde amnesia on 80 white adult male rats weighing 160 - 200 g. For studying the mnemotropic activity of drug, the method of the conditioned reflex of active avoidance was used. The authors discovered that the isolated use of carbamazepine has the most negative influence on cognitive processes in animals, namely the formation of skill, memory engrams and consolidating memory trace as compared with the combined use of carbamazepine with neuroprotective drugs. It was found that the use of combinations of carbamazepine and nootropics in the experiment does not prevent the development of seizures completely, however, these combination can significantly reduce the duration of seizures (p <0.0001. Study of the effectiveness of the combined use of carbamazepine with nootropic drugs, revealed, that the tested drug combinations have a positive effect on cognitive processes and show neuroprotective effect on the brain structures of animals. The revealed effects of combined use of carbamazepine with nootropic drugs by the strength and intensity of the impact is much higher than isolated, while using carbamazepine. It was found, that the most effective combination is a combination of carbamazepine with Gliatilin.

Executive function and health-related quality of life in pediatric epilepsy.

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Schraegle, William A; Titus, Jeffrey B

2016-09-01

Children and adolescents with epilepsy often show higher rates of executive functioning deficits and are at an increased risk of diminished health-related quality of life (HRQOL). The purpose of the current study was to determine the extent to which executive dysfunction predicts HRQOL in youth with epilepsy. Data included parental ratings on the Behavior Rating Inventory of Executive Function (BRIEF) and the Quality of Life in Childhood Epilepsy (QOLCE) questionnaire for 130 children and adolescents with epilepsy (mean age=11years, 6months; SD=3years, 6months). Our results identified executive dysfunction in nearly half of the sample (49%). Moderate-to-large correlations were identified between the BRIEF and the QOLCE subscales of well-being, cognition, and behavior. The working memory subscale on the BRIEF emerged as the sole significant predictor of HRQOL. These results underscore the significant role of executive function in pediatric epilepsy. Proactive screening for executive dysfunction to identify those at risk of poor HRQOL is merited, and these results bring to question the potential role of behavioral interventions to improve HRQOL in pediatric epilepsy by specifically treating and/or accommodating for executive deficits. Copyright © 2016 Elsevier Inc. All rights reserved.

Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

Science.gov (United States)

Miyajima, Tomoko; Kumada, Tomohiro; Saito, Keiko; Fujii, Tatsuya

2013-02-01

In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor α4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger's disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR. The clinical epileptic features of the siblings were very similar, and both had deficits in socialization, but their cognitive development differed markedly. It thus seems that epilepsy is the direct phenotype of the S252L mutation, whereas other various factors modulate the cognitive and social development. No patients with ADNFLE have previously been reported to have autism spectrum disorder or profound MR. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

The Spanish Society of Neurology's official clinical practice guidelines for epilepsy. Special considerations in epilepsy: comorbidities, women of childbearing age, and elderly patients.