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I E Scheffer - One of the best experts on this subject based on the ideXlab platform.
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Autosomal dominant Rolandic Epilepsy with speech dyspraxia.
Epileptic disorders : international epilepsy journal with videotape, 2020Co-Authors: I E SchefferAbstract:Autosomal Dominant Rolandic Epilepsy with Speech Dyspraxia (ADRESD) is a rare disorder which highlights the relationship between Benign Rolandic Epilepsy (BRE) and speech and language disorders. Subtle speech and language disorders have recently been well characterised in BRE. ADRESD is associated with long term, more severe speech and language difficulties. The time course of Rolandic Epilepsy in ADRESD is typical of that of BRE. ADRESD is inherited in an autosomal dominant manner with anticipation. It is postulated that the anticipation may be due to an, as yet unidentified, triplet repeat expansion in a gene for Rolandic Epilepsy. BRE follows complex inheritance but it is possible that ADRESD may hold some valuable clues to the pathogenesis of BRE.
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analyzing the etiology of benign Rolandic Epilepsy a multicenter twin collaboration
Epilepsia, 2006Co-Authors: Lata Vadlamudi, Roger L Milne, Marianne J Kjeldsen, Linda A Corey, Marit Hornberg Solaas, Mogen L Friis, John M Pellock, Karl O Nakken, I E SchefferAbstract:Summary: Purpose: Benign Rolandic Epilepsy (BRE) is considered a genetically determined idiopathic partial Epilepsy. We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology. Methods: Large population-based twin registries of epilepsies from Odense (Denmark), Richmond, Virginia (United States), and Oslo (Norway) were reviewed for BRE cases and added to our Australian twin data. Diagnosis of classic BRE was based on electroclinical criteria with normal neurologic development. Cases with a compatible electroclinical picture but abnormal neurologic development were termed nonclassic BRE. Results: Eighteen twin pairs were identified (10 monozygous; eight dizygous) of whom at least one twin was diagnosed with classic BRE among a total sample of 1,952 twin pairs validated for seizures, and all were discordant for BRE. The estimated monozygous pairwise concordance for BRE in this sample was 0.0 [95% confidence interval (CI), 0.0‐0.3). Four twin pairs (one monozygous, three dizygous) had nonclassic BRE, and all cotwins had seizures. Conclusions: The twin data showing an absence of any concordant twin pairs with classic BRE suggest that noninherited factors are of major importance in BRE. Modelling the data shows that the familial occurrence of centrotemporal spikes makes only a minor contribution to the familial aggregation of BRE. Genetic factors are probably more important in nonclassic BRE. The etiology and mode(s) of inheritance of BRE are much more complicated than initially conceptualized. Key Words: Benign Rolandic Epilepsy—Inheritance—Twin.
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is benign Rolandic Epilepsy genetically determined
Annals of Neurology, 2004Co-Authors: Lata Vadlamudi, I E Scheffer, Simon A Harvey, Mary Connellan, Roger L Milne, John L Hopper, Samuel F BerkovicAbstract:Benign Rolandic Epilepsy (BRE) is considered to be a genetically determined idiopathic partial Epilepsy. We studied twins with BRE and compared the concordance with a twin sample of idiopathic generalized Epilepsy (IGE). All eight BRE pairs (six monozygous [MZ], two dizygous [DZ]) were discordant. MZ pairwise concordance was 0 (95% confidence interval [CI], 0–0.4) for BRE compared with 0.7 (95% CI, 0.5– 0.9) for 26 IGE MZ pairs. Our data suggest that conventional genetic influences in BRE are considerably less than for IGE, and other mechanisms need to be explored.
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Autosomal dominant Rolandic Epilepsy with speech dyspraxia
Epileptic Disorders, 2001Co-Authors: I E SchefferAbstract:The disorder, autosomal dominant Rolandic Epilepsy with speech dyspraxia (ADRESD), was described in an Australian family in 1995 [1]. It is a rare condition, as further families have only recently been recognised. ADRESD illustrates the relationship between speech disorders and benign Rolandic Epilepsy (BRE) [2, 3]. Further, ADRESD and BRE are thought to form a spectrum, with the rare, severe Epilepsy-aphasia syndromes, Landau-Kleffner syndrome [...]
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autosomal dominant Rolandic Epilepsy and speech dyspraxia a new syndrome with anticipation
Annals of Neurology, 1995Co-Authors: I E Scheffer, L Jones, M Pozzebon, R A Howell, Michael M Saling, Samuel F BerkovicAbstract:We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of Epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant Rolandic Epilepsy resemble those of benign Rolandic Epilepsy, a common inherited Epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign Rolandic Epilepsy where anticipation does not occur and the mode of inheritance is uncertain.
Carol Camfield - One of the best experts on this subject based on the ideXlab platform.
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Rolandic Epilepsy has little effect on adult life 30 years later a population based study
Neurology, 2014Co-Authors: Carol Camfield, Peter CamfieldAbstract:Objective: To establish the adult social outcome for childhood-onset Rolandic Epilepsy. Methods: Patients with medication-treated Rolandic Epilepsy were identified from the Nova Scotia prospective population-based cohort of childhood-onset Epilepsy. Epilepsy onset was in 1977–1985 and follow-up was in 2010–2013 with chart review plus structured telephone interview for those older than 21 years. Results: Forty-two children developed Rolandic Epilepsy (6% of 692 incident Epilepsy cases in the cohort). Thirty-two (76%) were contacted when they were older than 21 years. Epilepsy onset averaged 7.7 ± 2.3 years, follow-up 29.5 ± 2.8 years, and final age 37 ± 3.4 years. All had Epilepsy remission and were off antiepileptic drug treatment for 21.4 ± 6.6 years. There were 2 minor injuries from seizures and only 1 death (from a snowmobile accident). Overall, 41% had ≥1 of 7 adverse social outcomes, 6 had 1, 4 had 2, and 3 had ≥3. These were failure to complete high school (n = 7), pregnancy outside of a stable relationship ( 3 months (n = 1), and poverty (n = 2). Those who did not complete high school were more likely to have parents with low academic achievement and/or low income ( p Conclusions: The adult social outcome for children with Rolandic Epilepsy is remarkably better than for those with other major epilepsies and normal intelligence.
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population study of benign Rolandic Epilepsy is treatment needed
Neurology, 2001Co-Authors: Jurriaan M Peters, Carol Camfield, Peter CamfieldAbstract:To the Editor: We read with interest the article by Peters et al.1 on benign Rolandic Epilepsy (BECT). The authors reported their experience with 79 children with this type of Epilepsy; 43 of 79 children were treated with different antiepileptic drugs (AEDs) while 36 were not treated. The authors conclude that anticonvulsant therapy is not necessary because all patients achieved the expected remission. Despite the fact that, by definition, this type of Epilepsy is considered a benign situation, recently, atypical evolutions have been repeatedly recognized. In some large studies, the percentage of atypical features (including diurnal seizures, screaming as a seizure component, aura, and Todd’s paralysis) ranged from 10 to 50%.2–4 …
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benign Rolandic Epilepsy atypical features are very common
Journal of Child Neurology, 1995Co-Authors: Elaine C Wirrell, Peter Camfield, Kevin E Gordon, Joseph M Dooley, Carol CamfieldAbstract:The objective of this study was to determine the frequency of atypical clinical and electrographic features in children with benign Rolandic Epilepsy. A retrospective case series design was employe...
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Benign Rolandic Epilepsy: Atypical Features Are Very Common:
Journal of Child Neurology, 1995Co-Authors: Elaine C Wirrell, Peter Camfield, Kevin E Gordon, Joseph M Dooley, Carol CamfieldAbstract:The objective of this study was to determine the frequency of atypical clinical and electrographic features in children with benign Rolandic Epilepsy. A retrospective case series design was employed in the setting of a tertiary care pediatric hospital. Forty-two children with benign Rolandic Epilepsy were seen through our neurology department between January 1, 1991, and December 31, 1993. Their charts were reviewed for atypical clinical features, imaging studies and results, total number of seizures at initial presentation and last follow-up, and use of anticonvulsants. Atypical clinical features included status epilepticus, developmental delay, daytime-only seizures, screaming as a seizure component, and postictal Todd's paresis. All children had at least one electroencephalogram, and these records were reviewed for atypical electrographic features such as unusual location, atypical spike morphology, and abnormal background. Atypical clinical features were seen in 50% of patients and atypical electrogra...
Peter Camfield - One of the best experts on this subject based on the ideXlab platform.
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Rolandic Epilepsy has little effect on adult life 30 years later a population based study
Neurology, 2014Co-Authors: Carol Camfield, Peter CamfieldAbstract:Objective: To establish the adult social outcome for childhood-onset Rolandic Epilepsy. Methods: Patients with medication-treated Rolandic Epilepsy were identified from the Nova Scotia prospective population-based cohort of childhood-onset Epilepsy. Epilepsy onset was in 1977–1985 and follow-up was in 2010–2013 with chart review plus structured telephone interview for those older than 21 years. Results: Forty-two children developed Rolandic Epilepsy (6% of 692 incident Epilepsy cases in the cohort). Thirty-two (76%) were contacted when they were older than 21 years. Epilepsy onset averaged 7.7 ± 2.3 years, follow-up 29.5 ± 2.8 years, and final age 37 ± 3.4 years. All had Epilepsy remission and were off antiepileptic drug treatment for 21.4 ± 6.6 years. There were 2 minor injuries from seizures and only 1 death (from a snowmobile accident). Overall, 41% had ≥1 of 7 adverse social outcomes, 6 had 1, 4 had 2, and 3 had ≥3. These were failure to complete high school (n = 7), pregnancy outside of a stable relationship ( 3 months (n = 1), and poverty (n = 2). Those who did not complete high school were more likely to have parents with low academic achievement and/or low income ( p Conclusions: The adult social outcome for children with Rolandic Epilepsy is remarkably better than for those with other major epilepsies and normal intelligence.
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population study of benign Rolandic Epilepsy is treatment needed
Neurology, 2001Co-Authors: Jurriaan M Peters, Carol Camfield, Peter CamfieldAbstract:To the Editor: We read with interest the article by Peters et al.1 on benign Rolandic Epilepsy (BECT). The authors reported their experience with 79 children with this type of Epilepsy; 43 of 79 children were treated with different antiepileptic drugs (AEDs) while 36 were not treated. The authors conclude that anticonvulsant therapy is not necessary because all patients achieved the expected remission. Despite the fact that, by definition, this type of Epilepsy is considered a benign situation, recently, atypical evolutions have been repeatedly recognized. In some large studies, the percentage of atypical features (including diurnal seizures, screaming as a seizure component, aura, and Todd’s paralysis) ranged from 10 to 50%.2–4 …
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benign Rolandic Epilepsy atypical features are very common
Journal of Child Neurology, 1995Co-Authors: Elaine C Wirrell, Peter Camfield, Kevin E Gordon, Joseph M Dooley, Carol CamfieldAbstract:The objective of this study was to determine the frequency of atypical clinical and electrographic features in children with benign Rolandic Epilepsy. A retrospective case series design was employe...
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Benign Rolandic Epilepsy: Atypical Features Are Very Common:
Journal of Child Neurology, 1995Co-Authors: Elaine C Wirrell, Peter Camfield, Kevin E Gordon, Joseph M Dooley, Carol CamfieldAbstract:The objective of this study was to determine the frequency of atypical clinical and electrographic features in children with benign Rolandic Epilepsy. A retrospective case series design was employed in the setting of a tertiary care pediatric hospital. Forty-two children with benign Rolandic Epilepsy were seen through our neurology department between January 1, 1991, and December 31, 1993. Their charts were reviewed for atypical clinical features, imaging studies and results, total number of seizures at initial presentation and last follow-up, and use of anticonvulsants. Atypical clinical features included status epilepticus, developmental delay, daytime-only seizures, screaming as a seizure component, and postictal Todd's paresis. All children had at least one electroencephalogram, and these records were reviewed for atypical electrographic features such as unusual location, atypical spike morphology, and abnormal background. Atypical clinical features were seen in 50% of patients and atypical electrogra...
Samuel F Berkovic - One of the best experts on this subject based on the ideXlab platform.
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is benign Rolandic Epilepsy genetically determined
Annals of Neurology, 2004Co-Authors: Lata Vadlamudi, I E Scheffer, Simon A Harvey, Mary Connellan, Roger L Milne, John L Hopper, Samuel F BerkovicAbstract:Benign Rolandic Epilepsy (BRE) is considered to be a genetically determined idiopathic partial Epilepsy. We studied twins with BRE and compared the concordance with a twin sample of idiopathic generalized Epilepsy (IGE). All eight BRE pairs (six monozygous [MZ], two dizygous [DZ]) were discordant. MZ pairwise concordance was 0 (95% confidence interval [CI], 0–0.4) for BRE compared with 0.7 (95% CI, 0.5– 0.9) for 26 IGE MZ pairs. Our data suggest that conventional genetic influences in BRE are considerably less than for IGE, and other mechanisms need to be explored.
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autosomal dominant Rolandic Epilepsy and speech dyspraxia a new syndrome with anticipation
Annals of Neurology, 1995Co-Authors: I E Scheffer, L Jones, M Pozzebon, R A Howell, Michael M Saling, Samuel F BerkovicAbstract:We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of Epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant Rolandic Epilepsy resemble those of benign Rolandic Epilepsy, a common inherited Epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign Rolandic Epilepsy where anticipation does not occur and the mode of inheritance is uncertain.
Albert P Aldenkamp - One of the best experts on this subject based on the ideXlab platform.
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wavelet entropy of bold time series an application to Rolandic Epilepsy
Journal of Magnetic Resonance Imaging, 2017Co-Authors: Lalit Gupta, Albert P Aldenkamp, Rene M H Besseling, Jacobus F A Jansen, Paul Hofman, Anton De Louw, Walter H BackesAbstract:Purpose To assess the wavelet entropy for the characterization of intrinsic aberrant temporal irregularities in the time series of resting-state blood-oxygen-level-dependent (BOLD) signal fluctuations. Further, to evaluate the temporal irregularities (disorder/order) on a voxel-by-voxel basis in the brains of children with Rolandic Epilepsy. Materials and Methods The BOLD time series was decomposed using the discrete wavelet transform and the wavelet entropy was calculated. Using a model time series consisting of multiple harmonics and nonstationary components, the wavelet entropy was compared with Shannon and spectral (Fourier-based) entropy. As an application, the wavelet entropy in 22 children with Rolandic Epilepsy was compared to 22 age-matched healthy controls. The images were obtained by performing resting-state functional magnetic resonance imaging (fMRI) using a 3T system, an 8-element receive-only head coil, and an echo planar imaging pulse sequence ( T2*-weighted). The wavelet entropy was also compared to spectral entropy, regional homogeneity, and Shannon entropy. Results Wavelet entropy was found to identify the nonstationary components of the model time series. In Rolandic Epilepsy patients, a significantly elevated wavelet entropy was observed relative to controls for the whole cerebrum (P = 0.03). Spectral entropy (P = 0.41), regional homogeneity (P = 0.52), and Shannon entropy (P = 0.32) did not reveal significant differences. Conclusion The wavelet entropy measure appeared more sensitive to detect abnormalities in cerebral fluctuations represented by nonstationary effects in the BOLD time series than more conventional measures. This effect was observed in the model time series as well as in Rolandic Epilepsy. These observations suggest that the brains of children with Rolandic Epilepsy exhibit stronger nonstationary temporal signal fluctuations than controls. Level of Evidence: 2 J. Magn. Reson. Imaging 2017.
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clinical evaluation of language fundamentals in Rolandic Epilepsy an assessment with celf 4
European Journal of Paediatric Neurology, 2013Co-Authors: Geke M Overvliet, Johan S H Vles, Jos G M Hendriksen, Rene M H Besseling, Walter H Backes, Jacobus F A Jansen, Paul Hofman, Sylvie J M Van Der Kruijs, Saskia C M Ebus, Albert P AldenkampAbstract:Abstract Background In clinical practice, Rolandic Epilepsy is in many cases associated with developmental language impairment. However, from the literature it is unclear exactly which domains are affected; A wide variety of investigations are reported that each provide a different representation of language performance in these patients. Aims The aim of this study is to compare performance on the language domains between children with Rolandic Epilepsy and healthy controls. Methods Prospective study of children with Rolandic Epilepsy compared to healthy controls. 25 children (mean age 136.6 months, SD 23.0) with Rolandic Epilepsy and 25 age-matched healthy controls were tested on their language function using the CELF-4 (Clinical evaluation of Language Fundamentals, Dutch edition). The healthy control were not matched regard to other important factors, particularly educational attainment and co-morbidity. Expressive language, receptive language, language content, language structure and language working memory were tested. Results In children with Rolandic Epilepsy, the core language score was significant lower compared with healthy controls. They scored specifically lower on the receptive language index and language content index (both p = 0.002). A trend towards decreased expressive language index was observed ( p = 0.054). Language structure and language working memory were in the normal range. Conclusion Language was found to be impaired in children with typical Rolandic Epilepsy. Especially semantic language processing including receptive language and language content was significantly impaired. The common denominator of these functions is semantic language processing.
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early onset of cortical thinning in children with Rolandic Epilepsy
NeuroImage: Clinical, 2013Co-Authors: Geke M Overvliet, Albert P Aldenkamp, Rene M H Besseling, Jacobus F A Jansen, Paul Hofman, Sylvie J M Van Der Kruijs, Saskia C M Ebus, J S H Vles, Anton J A De Louw, Walter H BackesAbstract:Abstract Introduction Rolandic Epilepsy, a childhood Epilepsy associated with language impairments, was investigated for language-related cortical abnormalities. Methods Twenty-four children with Rolandic Epilepsy and 24 controls (age 8–14 years) were recruited and underwent the Clinical Evaluation of Language Fundamentals test. Structural MRI was performed at 3 T (voxel size 1 × 1 × 1 mm 3 ) for fully automated quantitative assessment of cortical thickness. Regression analysis was used to test for differences between patients and controls and to assess the effect of age and language indices on cortical thickness. Results For patients the core language score (mean ± SD: 92 ± 18) was lower than for controls (106 ± 11, p = 0.0026) and below the norm of 100 ± 15 (p = 0.047). Patients showed specific impairments in receptive language index (87 ± 19, p = 0.002) and language content index (87 ± 18, p = 0.0016). Cortical thickness was reduced in patients (p Conclusion The cortical abnormalities described represent subtle but significant pathomorphology in this critical phase of brain development (8–14 years) and suggest that Rolandic Epilepsy should not be considered merely a benign condition. Future studies employing longitudinal designs are prompted for further investigations into cerebral abnormalities in RE and associations with cognitive impairment and development.
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reduced functional integration of the sensorimotor and language network in Rolandic Epilepsy
NeuroImage: Clinical, 2013Co-Authors: Rene M H Besseling, Geke M Overvliet, Albert P Aldenkamp, Jacobus F A Jansen, Paul Hofman, Sylvie J M Van Der Kruijs, Saskia C M Ebus, J S H Vles, Anton J A De Louw, Walter H BackesAbstract:Introduction Over the last years, evidence has accumulated that Rolandic Epilepsy (RE) is associated with serious cognitive comorbidities, including language impairment. However, the cerebral mechanism through which epileptiform activity in the Rolandic (sensorimotor) areas may affect the language system is unknown. To investigate this, the connectivity between Rolandic areas and regions involved in language processing is studied using functional MRI (fMRI).
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correlation between language impairment and problems in motor development in children with Rolandic Epilepsy
Epilepsy & Behavior, 2011Co-Authors: Geke M Overvliet, Albert P Aldenkamp, Sylvia Klinkenberg, Johan S H Vles, Joost Nicolai, Rene M H Besseling, Walter H Backes, Jacobus F A Jansen, Paul Hofman, Jos G M HendriksenAbstract:Abstract Objective An association between impaired school performance and Rolandic Epilepsy is frequently reported. Language outcome, in particular, seems to be affected, although Rolandic Epilepsy originates from the motor–sensory cortex. In this study we tried to find a correlation between locomotion problems and language impairment. Methods In this noncontrolled, open, clinical cohort study of 48 children with Rolandic Epilepsy, a 24-hour EEG and a neuropsychological assessment were obtained for all children. Results Children with Rolandic Epilepsy had a significant delay in reading skills (reading words: mean = 6 months, SD = 11.9, P Conclusion Reading performance is impaired in children with Rolandic Epilepsy. Reading of sentences is more impaired than reading of words. There is a significant correlation between problems in motor development and language, suggesting their interaction at the level of the cortex.
