scholarly journals Heterogenity of childhood absence epilepsies

Author(s):  
F. I. Gusyakov ◽  
M. V. Belousov ◽  
E. A. Morozova ◽  
D. G. Gazizova

Summary. In connection with the growing volume of scientific data on the genetic problems of generalized epilepsy in recent decades, the ambiguity of the therapeutic tactics and prognosis of this cohort of patients has become obvious based solely on the phenotypic characteristics of the patient. It is known that epilepsies with similar phenotypes show a different genetic nature, different pathogenesis of the development of epileptogenesis and response to therapy. The outcomes also differ, both in terms of seizure control and in terms of cognitive functions.The article presents an overview of the factors that must be taken into account when manifesting childhood absentee epilepsy: the child’s gender, types of seizures, cognitive profile, results of electroencephalography and neuroimaging. Attention is paid to the genes that determine the development of these forms of epilepsy in children.

2007 ◽  
Vol 13 (4) ◽  
pp. 187-189 ◽  
Author(s):  
Bernardo Moreira ◽  
Sigride Thomé-Souza ◽  
Kette Valente

Lamotrigine (LTG) is a generally well-tolerated antiepileptic drug with broad-spectrum efficacy in several forms of partial and generalized epilepsy. Adverse effects of lamotrigine are usually associated with introduction and titration. This risk increases in children and in the co-medication with valproate. Herein, we report four patients with late adverse-effects, under the co-medication valproate and LTG, not related to drug introduction or titration. This study demonstrates that late side-effects without apparent etiology in children, adolescents and adults in chronic use of LTG, especially when associated to VPA, led to a diagnostic investigation, sometimes invasive. It must be emphasized that, due to the excellent seizure control, the authors opted for drug decrease instead of drug withdrawal, as previously done. Studies on late adverse effects are scarce, but physicians must be aware of these risks.


2021 ◽  
Vol 10 (02) ◽  
pp. 081-087
Author(s):  
Kumar Sannagowdara ◽  
Nadir Khan

AbstractAbout 70% of children with new-onset epilepsy have the potential to become seizure-free on antiepileptic drug (AED) monotherapy with appropriately selected first-line medication. In ideal world, physician is expected to achieve best possible seizure control without impacting the quality of life. There is rapid increase in number of AEDs available over last couple of decades. Although not necessarily all of them are superior to old generation drugs in terms of seizure control, certainly there is change in landscape from perspective of tolerability and side-effect profile. Physicians must therefore be familiar with safety, tolerability, therapeutic effects, synergistic combinations as well as AEDs to avoid in specific circumstances. The article attempts to give general overview of available AEDs under broad umbrella of effectiveness against focal and generalized seizures as well as drugs with “broad spectrum.” The emergence of newer AEDs with broad spectrum and favorable side-effect profile is welcome. However, the future lies in better understanding of underlying diverse pathophysiology of clinical symptom “epilepsy” and developing new compounds acting on molecular targets as well as individualizing therapy. Technological advances in molecular genetics research are bringing precision medicine to the fore.


QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
A A Ashour ◽  
A M A Nassef ◽  
E M Awad ◽  
A M Hazzou ◽  
M A Nada ◽  
...  

Abstract Background Epilepsy is a serious common neurological disorder that can affect any age. Cognitive functions are highly prevalent in patients with epilepsy and is more likely to occur in patients with idiopathic generalized epilepsy (IGE). Associations were found between cognitive functions and brain volume loss in patients with epilepsy. Objective This work was carried out to assess the volumetric changes in brain of epileptic patients to use it as a biomarker for cognitive dysfunction in adult and adolescent patients with epilepsy. Patients and Methods A case control study was conducted to include 61 patients, 20 of which diagnosed with idiopathic generalized epilepsy (IGE), 21 with temporal lobe epilepsy (TLE) and 20 with frontal lobe epilepsy (FLE) who were selected from the epilepsy outpatient clinic in Ain Shams university hospitals along with 23 age and sex matched healthy controls. Both cases and control groups were subjected to Magnetic resonance imaging MRI brain volumetry and detailed cognitive testing. An informed consent was taken from each adult patient, guardian of adolescent patient and healthy control. Results Statistically significant difference in comprehension subcategory of the Wechsler adult intelligence scale (WAIS) between patients with IGE and healthy controls denoting poorer social judgment in the IGE group. The IGE group also showed poorer performance in digit symbol subcategory of the same test denoting worse psychomotor speed and sustained attention. Also, significant difference in similarities subcategory was found between TLE group and control group denoting poorer abstract thinking among the TLE group. The IGE and TLE groups also showed lower attention and concentration than control group in the mental control subcategory of the Wechsler memory scale (WMS) yet failed to show superiority over each other. No statistically significant difference was found on comparing the whole brain volume between cases and control groups. A statistically significant direct relationship was found between the arithmetic subcategory of WAIS and the whole brain volume of the patients among the patients of the FLE group. Conclusion Patients with IGE had worse psychomotor speed, sustained attention and concentration than healthy controls in addition to poorer social judgment. Also, patients with TLE showed lower attention and concentration together with poorer abstract thinking despite normal IQ. The study also concluded that increased whole brain volume in patients with frontal lobe epilepsy is associated with better mathematical problem solving.


Author(s):  
P.C. Tai ◽  
D.W. Gross

Objective:While the risk of developing seizures following a mild head injury has been reported and is thought to be low, the effect of mild head injury on patients with a pre-existing seizure disorder has not been reported. We present a series of cases where a strong temporal relationship between mild head injury and worsening of seizure frequency was observed.Methods:Five cases were identified and reviewed in detail. Information was derived from clinic and hospital charts with attention to the degree of injury, pre- and postinjury seizure patterns and frequency.Results:One patient has primary generalized epilepsy and four have localization related epilepsy. Prior to the head injury, three of the patients were seizure free (range: two to 24 years). The patients suffered from mild head injuries with no or transient loss of consciousness and no focal neurological deficits. In all cases, the patients experienced a worsening of seizure control within days of the injury. In one case, the patient's seizure pattern returned to baseline one year after the accident, while in the remaining four cases, the patients continue to have medically refractory seizures.Conclusion:A close temporal relationship between mild head injury and a worsening of seizure control was observed in five patients with epilepsy. Although further study is required, this observation suggests that a head injury that would be considered benign in the general population can have serious consequences such as recurrence of seizures and medical intractability in patients with epilepsy.


2002 ◽  
Vol 36 (4) ◽  
pp. 534-543 ◽  
Author(s):  
Beng-Yeong Ng

Objective: To review the literature on self-induced epileptic seizures and apply psychiatric knowledge to define possible causes and treatment recommendations. Methods: A review of MEDLINE literature on self-induced epileptic seizures was conducted, followed by cross-referencing with the relevant neurologic, psychiatric and paediatric books and journals. Results: The reported prevalence of self-induction varies depending on the setting. In most instances, self-inducers are people affected by photosensitive primary generalized epilepsy, in whom self-induction is by intermittent photic stimulation or, more rarely, pattern stimulation or eye closure. Self-induced seizures are most commonly absences with spike-wave, though eyelid myoclonia and generalized myoclonic jerks occur. Earlier studies indicate that the majority of self-inducers were of subnormal intelligence but more recent ones indicate that as a group they could not be considered mentally retarded. Monitoring in a well-lit environment is indicated in any therapy-resistant photosensitive patient to determine whether or not selfinduction occurs. Self-induced epilepsy is notoriously resistant to therapy and reasons for this resistance are discussed. An explanatory model for the initiation and maintenance of selfinduction behaviour is also included. Conclusions: It is difficult to determine from published papers just what level of clinical difficulty self-induction of seizures actually posed to the patients and clinicians. In some cases there is contradictory evidence as to the degree of willfulness or self-induction. Self-induced epileptic seizures may be an important aspect of poor seizure control in a subgroup of epilepsy sufferers. These seizures might be modifiable by psychiatric intervention or behavioural modification.


2020 ◽  
Vol 107 ◽  
pp. 107064
Author(s):  
Mohamed M. Hamdy ◽  
Amr M. Elfatatry ◽  
Jaidaa F. Mekky ◽  
Eman Hamdy

2007 ◽  
Vol 32 (1) ◽  
pp. 4-12 ◽  
Author(s):  
Florence Conus ◽  
Rémi Rabasa-Lhoret ◽  
François Péronnet

The existence of a subgroup of normal-weight individuals displaying obesity-related phenotypic characteristics was first proposed in 1981. These individuals were identified as metabolically obese but normal weight (MONW). It was hypothesized that these individuals might be characterized by hyperinsulinemia and (or) insulin resistance, as well as by hypertriglyceridemia and high blood pressure despite having a body mass index (BMI) < 25 kg/m2. Such characteristics could confer upon MONW subjects a higher cardiovascular risk; however, scientific data on MONW subjects are scarce since only 9 publications are directly related to this topic. Despite differences in the criteria for identifying MONW subjects and the small number of subjects involved in most of these studies, their consistent results indicate that: (i) the prevalence of the MONW syndrome ranges between 5% and 45%, depending on the criteria used, age, BMI, and ethnicity; (ii) when compared with control subjects, MONW subjects display an altered insulin sensitivity, a higher abdominal and visceral adiposity, a more atherogenic lipid profile, a higher blood pressure, and a lower physical activity energy expenditure; and (iii) MONW subjects are at higher risks for type 2 diabetes and cardiovascular diseases.


2011 ◽  
Vol 8 (5) ◽  
pp. 21-25
Author(s):  
E E Kremer ◽  
N A Kirillova ◽  
N V Teplova ◽  
I A Deev ◽  
I V Petrova ◽  
...  

Background. To investigate the expression of surface molecules CD4+CD25high and CD4+FoxP3+ on regulatory T-cells (Treg) in patients with different severity of bronchial asthma (BA). Methods. We included 19 patients with severe BA, 12 patients with mild BA and 17 healthy donors. The circulating percentage of CD4+CD25high and CD4+FoxP3+ T-reg in peripheral blood was estimated by the flow cytometry analysis (FACSCalibur, Becton Dickinson, USA). Results. Numbers of peripheral blood CD4+CD25high was significantly decreased in mild BA compared to healthy control. Patients with severe BA had increased levels of CD4+FoxP3+ and CD4+CD25high compared to mild BA. Conclusion. Our results demonstrate new scientific data on the phenotypic characteristics and the level of T-reg in peripheral blood at different clinical forms of asthma. This fact confirms the existence of immunoregulatory control mechanisms of allergic inflammation involving T-reg.


Author(s):  
A.N. Prasad ◽  
M. Stefanelli ◽  
L Nagarajan

ABSTRACT:Background:Unexpected exacerbation of seizures may occur following initiation of treatment with carbamazepine (CBZ). We reviewed the occurrence of such reactions in our patient population at a tertiary care children's hospital.Methods:A retrospective analysis of our clinic database identified 129/691 (18.6%) patients with epilepsy treated with CBZ, as monotherapy. 38/129 children were later switched to another drug. In 11/38 (28.5 %) clinical and/or EEG deterioration was observed. Two patients identified at another institution with similar exacerbation were also included in our analysis. We report on the findings in these 13 cases.Results:Two groups were identified: Group I - 6 patients with normal neurological exam, normal EEG background, and a diagnosis of idiopathic generalized epilepsy. Group II - 7 patients with an abnormal neurological exam and/or abnormal EEG background. Following introduction of CBZ therapy, worsening of preexisting seizures, appearance of new seizure types, behavioral regression, and accompanying EEG deterioration were reported in both groups. Dramatic improvement in seizure control occurred, following withdrawal of CBZ and substitution of another anticonvulsant.Conclusion:Physicians treating epilepsy must be aware that CBZ can exacerbate seizures, and cause developmental regression in children. Careful patient selection, when choosing CBZ as treatment, and prompt recognition of clinical deterioration and intervention, may help avoid or reverse these paradoxical reactions.


Author(s):  
Doris A. Trauner

Abstract Adults with right hemisphere (RH) damage have a characteristic cognitive profile of impaired facial recognition and visual spatial skills, contralateral neglect, and aprosodia, with relatively intact propositional language. The adverse effects of childhood RH damage are more subtle and do not follow the adult pattern following RH injury. This article reviews evidence that the RH is specialized early in life for certain cognitive functions, including comprehension of affective prosody and visual spatial analysis. Other cognitive functions such as facial recognition, language, and expressive prosody appear to have more bilateral representation during early development. There is also strong evidence for plasticity in the developing RH that allows reorganization to take place following focal injury. Such differences in neural networks during development may account for the good functional recovery in children with perinatal RH brain damage.


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