Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

National Science Foundation - 4-H Robotics Grant Announcement

Bullets for announcement of the nearly $2.5 million grant to 4-H from the National Science Foundation to take its robotics curriculum national.

Collaboration as a Foundation for the Project Approach in Family Child Care

Supporting children's curiosity was considered important at my family child care home. How could we best achieve this? As my assistant caregiver Deb and 1 attended professional development workshops, we began to wonder if the project approach (Helm & Katz 2001) would be an effective means of supporting inquiry and collaborative learning. Before we would commit ourselves, we wanted to learn more. We had many questions. Just what is the project approach? What does it look like? How will it support children's learning? What do we need to be successful with it? The literature suggested many examples of successful projects at child care centers and preschools (Breig-Allen et al. 1998; Harkem: 1999; Beneke 2000; Glassman & Whaley 2000). Our challenge was how to adapt the project approach to our home child care situations.

Increased Metallothionein I/II Expression in Patients with Temporal Lobe Epilepsy

In the central nervous system, zinc is released along with glutamate during neurotransmission and, in excess, can promote neuronal death. Experimental studies have shown that metallothioneins I/II (MT-I/II), which chelate free zinc, can affect seizures and reduce neuronal death after status epilepticus. Our aim was to evaluate the expression of MT-I/II in the hippocampus of patients with temporal lobe epilepsy (TLE). Hippocampi from patients with pharmacoresistant mesial temporal lobe epilepsy (MTLE) and patients with TLE associated with tumor or dysplasia (TLE-TD) were evaluated for expression of MT-I/II, for the vesicular zinc levels, and for neuronal, astroglial, and microglial populations. Compared to control cases, MTLE group displayed widespread increase in MT-I/II expression, astrogliosis, microgliosis and reduced neuronal population. In TLE-TD, the same changes were observed, except that were mainly confined to fascia dentata. Increased vesicular zinc was observed only in the inner molecular layer of MTLE patients, when compared to control cases. Correlation and linear regression analyses indicated an association between increased MT-I/II and increased astrogliosis in TLE. MT-I/II levels did not correlate with any clinical variables, but MTLE patients with secondary generalized seizures (SGS) had less MT-I/II than MTLE patients without SGS. In conclusion, MT-I/II expression was increased in hippocampi from TLE patients and our data suggest that it is associated with astrogliosis and may be associated with different seizure spread patterns.

Differential aberrant sprouting in temporal lobe epilepsy with psychiatric co-morbidities

Psychiatric co-morbidities in epilepsy are common in patients with temporal lobe epilepsy (TLE). Pathological alterations in TLE are well characterised; however, neuropathologic data are relatively scale regarding the association between psychiatric diseases and epilepsy. Our objective was to evaluate the clinical data of 46 adult TLE patients with and without psychiatric co-morbidities and to correlate the data with hippocampal neuronal density and mossy fiber sprouting. Accordingly, patients were grouped as follows: TLE patients without history of psychiatric disorder (TLE, n = 16), TLE patients with interictal psychosis (TLE + P, n = 14), and TLE patients with major depression (TLE + D, n = 16). Hippocampi from autopsies served as non-epileptic controls (n = 10). TLE + P exhibited significantly diminished mossy fiber sprouting and decreased neuronal density in the entorhinal cortex when compared with TLE. TLE + P showed significantly poorer results in verbal memory tasks. TLE + D exhibited significantly increased mossy fiber sprouting length when compared with TLE and TLE + P. Further, a higher proportion of TLE + D and TLE + P presented secondarily generalised seizures than did TLE. Our results indicate that TLE patients with psychiatric disorders have distinct features when compared with TLE patients without psychiatric co-morbidities and that these changes may be involved in either the manifestation or the maintenance of psychiatric co-morbidities in epilepsy. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

Multiple endocrine neoplasia type 1 presenting as refractory epilepsy and polyneuropathy - A case report

Hypoglycemia is a well recognized cause of acute symptomatic seizures. The fact that hypoglycemia can cause peripheral neuropathy is less appreciated. We describe a case of insulinoma associated peripheral neuropathy. A 17 year-old previously healthy man was referred for investigation of refractory epilepsy. A history of recurrent seizures, slowly progressive weakness of his feet and hands, and weight gain was obtained. Physical examination showed signs of a chronic sensory-motor polyneuropathy. He was diagnosed with insulinoma and primary hyperparathyroidism, characterizing multiple endocrine neoplasia, type 1 syndrome. Cases of insulinoma associated peripheral neuropathy are very rare. The more characteristic clinical picture appears to be distal weakness, worse in the intrinsic hand and feet muscles, and no or mild sensory signs. Peripheral nervous system symptoms may not completely resolve, despite removal of the cause of hyperinsulinism/hypoglycemia and full reversion of central nervous system symptoms. Mechanisms underlying hypoglycemic neuropathy are still poorly understood. (C) 2011 Elsevier B.V. All rights reserved.

Psychiatric comorbidity in refractory focal epilepsy: A study of 490 patients

We studied the prevalence and associated factors of psychiatric comorbidities in 490 patients with refractory focal epilepsy. Of these, 198 (40.4%) patients had psychiatric comorbidity. An Axis I diagnosis was made in 154 patients (31.4%) and an Axis II diagnosis (personality disorder) in another 44 (8.97%) patients. After logistic regression, positive family history of psychiatric comorbidities (O.R.=1.98; 95% CI=1.10-3.58; p=0.023), the presence of Axis II psychiatric comorbidities (O.R.=3.25; 95% CI=1.70-6.22; p<0.0001), and the epileptogenic zone located in mesial temporal lobe structures (O.R.=1.94; 95% CI=1.25-3.03; p=0.003) remained associated with Axis I psychiatric comorbidities. We concluded that a combination of clinical variables and selected structural abnormalities of the central nervous system contributes to the development of psychiatric comorbidities in patients with focal epilepsy. (C) 2012 Published by Elsevier Inc.

Impact of pediatric epilepsy surgery on intellectual efficiency

Introduction. Epilepsy surgery may be a promising alternative therapy for seizure control in patients with refractory seizures, resistant to medication. Cognitive outcome is another important factor in favor of the surgical decision. Aim. To investigate the correlation between seizure outcome and cognitive outcome after epilepsy surgery in a pediatric population. Patients and methods. A total of 59 pediatric patients were retrospectively assessed with the WISC-III (Full Scale, Verbal Scale and Performance Scale) before and, at least, 6 months after surgery. Patients were divided into two groups according whether or not improvement of seizure control after surgery. Data collected for each child included: epileptic syndrome, etiology, age at epilepsy onset, duration of epilepsy and seizure frequency. Results. Comparison using a MANOVA test revealed significant differences across pre-operative Full Scale, Verbal Scale and Performance Scale (p = 0.01) with seizure reduction group performing better than no seizure reduction group. Seizure improvement group achieved significant Performance Scale improvement (p = 0.01) and no seizure improvement group showed significant Verbal Scale worsened after surgery (p = 0.01). Conclusions. Our results suggest that the success of the epilepsy surgery in childhood when the seizure control is achieved may also provide an improvement in the Performance Scale whereas the seizure maintenance may worsen the Verbal Scale.

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

Executive dysfunction is reported in juvenile myoclonic epilepsy (JME). However, batteries employed in previous studies included no more than three tests of executive function. In this study, we aimed to assess executive and attentional functions in JME using a comprehensive battery of eight tests (encompassing fifteen subtests). We also evaluated neuropsychological profiles using a clinical criterion of severity and correlated these findings with epilepsy clinical variables and the presence of psychiatric disorders. We prospectively evaluated 42 patients with JME and a matched control group with Digit Span tests (forward and backward), Stroop Color-Word Test, Trail Making Test, Wisconsin Card-Sorting Test, Matching Familiar Figures Test and Word Fluency Test. We estimated IQ with the Matrix Reasoning and Vocabulary subtests of the Wechsler Abbreviated Intelligence Scale. The patients with JME showed specific deficits in working memory, inhibitory control, concept formation, goal maintenance, mental flexibility, and verbal fluency. We observed attentional deficits in processes such as alertness and attention span and those requiring sustained and divided attention. We found that 83.33% of the patients had moderate or severe executive dysfunction. In addition, attentional and executive impairment was correlated with higher frequency of seizures and the presence of psychiatric disorders. Furthermore, executive dysfunction correlated with a longer duration of epilepsy. Our findings indicate the need for comprehensive neuropsychological batteries in patients with JME, in order to provide a more extensive evaluation of attentional and executive functions and to show that some relevant deficits have been overlooked. (C) 2012 Elsevier Inc. All rights reserved.

Do pets reduce the likelihood of sudden unexplained death in epilepsy?

Purpose: To assess the relationship between the presence of pets in homes of epilepsy patients and the occurrence of sudden unexpected death in epilepsy (SUDEP). Methods: Parents or relatives of SUDEP patients collected over a ten-year period (2000-2009) in a large epilepsy unit were asked if the patient lived together with any domestic pet at the time of death or not. Patients who did not experience SUDEP served as controls. Results and conclusions: Eleven out of the 1092 included patients (1%) experienced SUDEP, all with refractory symptomatic epilepsy, but none of them had pets in their homes at the time of death. In contrast, the frequency of pet-ownership in the control group (n = 1081) was 61%. According to previous studies there are some indications that human health is directly related to companionship with animals in a way that domestic animals prevent illness and facilitate recovery of patients. Companion animals can buffer reactivity against acute stress, diminish stress perception and improve physical health. These factors may reduce cardiac arrhythmias and seizure frequency, factors related to SUDEP. Companion animals may have a positive effect on well-being, thus irnproving epilepsy outcome. (c) 2012 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Morphological Alterations in Newly Born Dentate Gyrus Granule Cells That Emerge after Status Epilepticus Contribute to Make Them Less Excitable

Computer simulations of external current stimulations of dentate gyrus granule cells of rats with Status Epilepticus induced by pilocarpine and control rats were used to evaluate whether morphological differences alone between these cells have an impact on their electrophysiological behavior. The cell models were constructed using morphological information from tridimensional reconstructions with Neurolucida software. To evaluate the effect of morphology differences alone, ion channel conductances, densities and distributions over the dendritic trees of dentate gyrus granule cells were the same for all models. External simulated currents were injected in randomly chosen dendrites belonging to one of three different areas of dentate gyrus granule cell molecular layer: inner molecular layer, medial molecular layer and outer molecular layer. Somatic membrane potentials were recorded to determine firing frequencies and inter-spike intervals. The results show that morphologically altered granule cells from pilocarpine-induced epileptic rats are less excitable than control cells, especially when they are stimulated in the inner molecular layer, which is the target area for mossy fibers that sprout after pilocarpine-induced cell degeneration. This suggests that morphological alterations may act as a protective mechanism to allow dentate gyrus granule cells to cope with the increase of stimulation caused by mossy fiber sprouting.

Impact of benign childhood epilepsy with centrotemporal spikes (BECTS) on school performance

BECTS represents the vast majority of childhood focal epilepsy. Owing to the age peculiarity of children who suffer from this disease, i.e., school-going age of between 6 and 9 years, the condition is often referred to as a school disorder by parents and teachers. Objective: The aim of this study was to evaluate the academic performance of children with BED'S, according to the clinical and electroencephalographic ILAE criteria, and compare the results of neuropsychological tests of language and attention to the frequency of epileptic discharges. Methods: The performances of 40 school children with BED'S were evaluated by applying a school performance test (SBT), neuropsychological tests (WISC and Trail-Making), and language tests (Illinois Test Psycholinguistic Abilities - ITPA - and Staggered Spondaic Word - SSW). The same tests were applied in the control group. Results: Children with BED'S, when compared to those in the control group, showed lower scores in academic performance (SPT), digits and similarities subtests of WISC, auditory processing subtest of SSW, and ITPA - representational and automatic level. The study showed that epileptic discharges did not influence the results. Conclusion: Children with BED'S scored significantly lower scores in tests on academic performance, when compared with those in the control group probably due to executive dysfunction. (C) 2011 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Psychiatric comorbidities in temporal lobe epilepsy: Possible relationships between psychotic disorders and involvement of limbic circuits

Objective: Mounting evidence suggests that the limbic system is pathologically involved in cases of psychiatric comorbidities in temporal lobe epilepsy (TLE) patients. Our objective was to develop a conceptual framework describing how neuropathological and connectivity changes might contribute to the development of psychosis and to the potential neurobiological mechanisms that cause schizophrenia-like psychosis in TLE patients. Methods: In this review, clinical and neuropathological findings, especially brain circuitry of the limbic system, were examined together to enhance our understanding of the association between TLE and psychosis. Finally, the importance of animal models in epilepsy and psychiatric disorders was discussed. Conclusions: TLE and psychiatric symptoms coexist more frequently than chance would predict. Damage and deregulation among critical anatomical regions, such as the hippocampus, amygdala, thalamus, and the temporal, frontal and cingulate cortices, might predispose TLE brains to psychosis. Studies of the effects of kindling and injection of neuroactive substances on behavior and electrophysiological patterns may offer a model of how limbic seizures in humans increase the vulnerability of TLE patients to psychiatric symptoms.

Amygdala gene expression of NMDA and GABAA receptors in patients with mesial temporal lobe epilepsy

Temporal lobe epilepsy (TLE) is the most common form of partial epilepsy and affects 40% of the patients. Seizures arising from the mesial temporal lobe structures (i.e., amygdala and hippocampus) are common, whereas neocortical seizures are rare. In recent years, many studies aimed to identify the pattern of gene expression of neurotransmitters involved in molecular mechanisms of epilepsy. We used real-time PCR to quantify the expression of GABAA (subunits a1, beta 1, beta 2) and NMDA (subunits NR1, NR2A, and NR2B) receptor genes in amygdalae of 27 patients with TLE and 14 amygdalae from autopsy controls. The NR1 subunit was increased in patients with epilepsy when compared with controls. No differences were found in expression of NMDA subunits NR2A and NR2B or in a1, beta 1, and beta 2 subunits of GABAA receptors. Our results suggest that the NR1 subunit of NMDA receptors is involved in the amygdala hyperexcitability in some of the patients with TLE. (C) 2010 Wiley Periodicals, Inc., Inc.