1,721,017 research outputs found
Monitoring And Managing Depression In Adolescents With Epilepsy: Current Perspectives
Epilepsy is associated with a significantly increased risk of developing depressive disorder during adolescence. On the other hand, depression is highly detected in adolescents with epilepsy. These findings highlight the importance of early identification and proper management of comorbid depression in adolescent age. The prevalence of depressive disorders in adolescents with epilepsy ranges between 8 and 35% and is higher than the general population of the same age. The relationship between epilepsy and depression is complex and potentially bidirectional, thereby suggesting a common underlying pathophysiology. Furthermore, failure to detect and treat depressive disorder mostly in adolescence could lead to several negative implications such as an increased risk of suicidal ideation or behavior and poor quality of life. A number of methods are available to detect depressive disorder, such as psychiatric or psychological assessments, structured or semi-structured interviews, and self-report screening tools. Thus, physicians should be able to regularly screen depressive symptoms in youths with epilepsy. Recently, the NDDI-E-.Y inventory has been developed from the adult NDDI-E, and has been validated in many countries. NDDI-E-Y has showed reliable validity, being a brief screening tool (12 items) that can be easily included in routine epilepsy care. The first step to be considered for the management of depressive disorder in adolescents with epilepsy is to consider potential reversible causes of anxiety and depression (i.e., a new AEDs; seizure control). Secondly, great attention has to be given to the education of the child/adolescent and his/her family, trying to improve knowledge about epilepsy as well as to decrease parental stress and improving the child's sense of competence. Pharmacological treatment should also be considered in adolescents diagnosed with depression
Ketogenic diet for the treatment of catastrophic epileptic encephalopathies in childhood
The ketogenic diet for the treatment of refractory epileptic encephalopathies has been suggested as an early treatment option in very young children. The aim of the present study was to assess the efficacy and tolerability of the ketogenic diet in children younger than 5 years, all affected by different types of catastrophic childhood encephalopathies. The study group is composed of 38 children (22 males and 16 females), aged between 3 months and 5 years, affected by symptomatic partial epilepsy (6) and cryptogenic-symptomatic epileptic encephalopathies (32). Psychomotor delay-mental retardation was present in all of the patients: mild to moderate (9), severe (7), and profound (22). Cerebral palsy was present in 74% of the cases. Children were started on a 4:1 ketogenic diet as ketocal®formula alone or supporting about the 80% of the daily caloric amount. Children poorly complying with ketocal®milk were shifted to a classic 4:1 ketogenic diet. The average time (months ± S.D.) on the diet was 10.3 ± 7.4. All the children initiating the diet remained on it at 1 month and 35 of them (92%) at 3 months, 28 (73.7%) remained on it at 6 months, and 20 (52.7%) at 1 year. At 12-month follow-up, 11 children (28.9%) had a greater than 50% reduction of seizures and the other 9 (23.7%) were seizure-free. Adverse side effects were recorded in 25 of 38 patients (65.8%), including drowsiness, constipation, weight loss, vomiting, gastroesophageal reflux, fever, and hyperlipidemia. This report confirms that severe epileptic encephalopathies are much suitable for the ketogenic diet. © 2009 European Paediatric Neurology Society
Parental stress in pediatric epilepsy after therapy withdrawal
The objective of the study was to explore stress levels in the parents of children with idiopathic epilepsy at different time points of the disease, specifically, at the time of diagnosis, during follow-up, and 1 and 2 years after discontinuation of antiepileptic drugs
The Ketogenic Diet for the Treatment of Mood Disorders in Comorbidity With Epilepsy in Children and Adolescents
: The ketogenic diet, used for over a century as an alternative therapy for the control of drug-resistant seizures in both children and adults, has recently drawn increasing interest in various neurological or psychiatric disorders other than epilepsy. In particular, there are a few preliminary studies in mood and neurodevelopmental disorders such as anxiety, depression and autism spectrum disorders. Mood disorders in comorbidity with epilepsy are commonly seen in adolescents and young adults both at the onset and during the course of the epileptic disorder. The rationale for the use of the ketogenic diet is based on the potential mood stabilizing effects through level modifications of metabolites such as dopamine and serotonin and the regulation of GABA/glutamatergic neurotransmission, mitochondrial function and oxidative stress. In this review, epilepsies with a higher risk of mood disorders in adolescents will be considered. A brief overview of the various types of ketogenic diet that can currently be offered to young patients in order to improve palatability and compliance with the diet, is also included. The efficacy and tolerability of the ketogenic diet options for the treatment of mood disorders, with or without drug therapy including mood stabilizers and antidepressant drugs, are as well discussed
Levetiracetam or oxcarbazepine as monotherapy in newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS): An open-label, parallel group trial
To evaluate the efficacy and tolerability of levetiracetam or oxcarbazepine as monotherapy in children with newly diagnosed benign epilepsy with centrotemporal spikes (BECTS). Twenty-one children (11 males, 10 females), aged between 5 and 13 years (mean 10.5 years), and 18 (10 M, 8 F), aged between 3.3 and 14 years (mean 8.4 years), were randomised to receive monotherapy with levetiracetam or oxcarbazepine, respectively. LEV was titrated up to 20-30 mg/kg/once or twice a day, and OXC up to 20-35 mg/kg once or twice a day. Thirty-nine consecutive children (21 males, 18 females), aged between 3.3 and 14 years (mean 10.7 years), were recruited into the study. Twenty-one were randomised on LEV (11 male, 10 female; mean age 10.5 years), and 18 on OXC (10 male, 8 female; mean age 8.4 years). After a mean follow-up period of 18.5 months (range 12-24 months), 19 out of 21 patients (90.5%) on levetiracetam, and 13 out of 18 (72,22%) on oxcarbazepine did not have further seizures. Mean serum level of LEV was 4.1 μg/ml (range 1.3-9.0), and of OXC was 15.2 μg/ml (range 4.2-27.5). Adverse side effects on LEV were reported in 3 children (14.3%), represented by mild and transient decreased appetite (2) and cephalalgia (1). They were reported on OXC in 2/18 (11.1%), including headache (1), and sedation (1). These preliminary data from an open, parallel group study suggest that levetiracetam and oxcarbazepine may be potentially effective and well tolerated drugs for children with BECTS who require treatment. © 2006 Elsevier B.V. All rights reserved
Infantile spasms in early-onset Niemann-Pick disease with a novel compound heterozygous mutations in SMPD1 gene.
Niemann-Pick diseases are a group of rare autosomal recessive disorders caused by an inherited deficiency of lysosomal storage with similar clinical presentations. At least three different Niemann-Pick (NP) diseases have been described, with NPA and NPB occurring as a result of a deficiency of the acid sphingomyelinase (ASM) enzyme, while NPC as a disorder that cause misregulation in cholesterol and lipids turnover, causing their accumulation in various tissues, including brain. The resulting phenotypic spectrum ranges from a severe infantile type with neurologic degeneration and death, usually by 3 years of age (NPA), to a non-neurologic adult onset form compatible with survival into adulthood (NPB) and a neurovisceral disorder with symptoms that occur at different times and progress independently (NPC).
Here, we report on an Italian child born from non-consanguineous healthy parents, with a negative family history, who developed infantile spasms at the age of 5 months and clinical signs of potential storage disease. The genetic screening, performed by means of whole exome sequencing, revealed compound heterozygous mutations in the Sphingomyelin Phosphodiesterase 1 gene (SMPD1), comprising both a homozygous polymorphism (p.V36A) in exon 1 and a new frameshift heterozygous deletion (c.1187delT) in exon 3 generating a premature stop (TAA) at codon 424 (p.L395fsX29).
This result appears to corroborate the phenotypic heterogeneity of the symptoms and suggests a correlation between the presence of a truncated SMPD1 polypeptide and the very early onset of the disease
Memory performances and personality traits in mothers of children with obstructive sleep apnea syndrome
Background: Chronic diseases in pediatric age have been identified as stressful risk factors
for parents. Studies on caregivers have documented the impact of chronic parenting stress on
emotion and cognition.
Aim: To investigate the differences between a group of mothers of children affected by
obstructive sleep apnea syndrome (OSAS) for at least 4 years and a group of mothers of
typically developing children (TDC) in relation to parental stress, self-esteem, locus of
control, and memory performances.
Methods: A group of 86 mothers (mean age 35.6±4.9, ranged between 32 and 41 years) of
children with OSAS diagnosis, and a group of 52 mothers of TDC (mean age 35.9±4.2,
ranged between 32 and 41 years) participated in the study. All participants were administered
stress level, global self-esteem, internal/external locus of control scales, and memory
assessment.
Results: Mothers of OSAS children, compared to mothers of TDC, had a significantly
higher level of stress, lower self-esteem, more external locus of control and poorer memory
performance.
Conclusions: The child respiratory disease, with its sudden and unpredictable features,
appeared as a significant source of stress for the mother. Such stress condition may have an
impact on mothers’ personality traits (self-esteem, locus of control) and on their memory
performances. The data have suggested a need for psychological support programs for
mothers to better manage stress associated with children’s respiratory disease
New developments in the management of partial-onset epilepsy: Role of brivaracetam
Currently, a number of novel anticonvulsant drugs, the so-called third generation, are in various stages of development. Several of them are already available or in ongoing clinical trials. These new compounds should take advantage of new insights into the basic pathophysiology of epileptogenesis, drug metabolism and drug interactions. Many of them still need to be further evaluated mainly in real-world observational trials and registries. Among newer anticonvulsant drugs for partial-onset seizures (POSs), rufinamide, lacosamide, eslicarbazepine and perampanel are those new treatment options for which more substantial clinical evidence is currently available, both in adults and, to some extent, in children. Among the newest anticonvulsant drugs, brivaracetam, a high-affinity synaptic vesicle protein 2A ligand, reported to be 10- to 30-fold more potent than levetiracetam, is highly effective in a broad range of experimental models of focal and generalized seizures. Unlike levetiracetam, brivaracetam does not inhibit high-voltage Ca2+ channels and AMPA receptors and appears to inhibit neuronal voltage-gated sodium channels playing a role as a partial antagonist. Brivaracetam has a linear pharmacokinetic profile, is extensively metabolized and is excreted by urine (only 8%–11% unchanged). It does not seem to influence the pharmacokinetics of other antiepileptic drugs. It was approved in the European Union in January 2016 and in the US in February 2016 as an adjunctive therapy for the treatment of POS in patients older than 16 years of age. To date, its clinical efficacy as adjunctive antiepileptic treatment in adults with refractory POS at doses between 50 and 200 mg daily has been extensively assessed in two Phase IIb and four Phase III randomized controlled studies. Long-term extension studies show sustained efficacy of brivaracetam. Overall, the drug is generally well tolerated with only mild-to-moderate side effects. This is true also by intravenous route. Brivaracetam has not yet been evaluated as monotherapy or in comparison with other new anticonvulsant drugs
Anticonvulsant drugs for generalized tonic-clonic epilepsy
Introduction: Primary generalized tonic clonic seizures (pGTCS) are still linked to major concerns for the clinic and hazards for patients suffering from idiopathic generalized epilepsy (IGE), so a quick search of the most effective and appropriate therapy is needed to control them. The key criteria for proper treatment are syndromic diagnosis and distinction between newly diagnosed and refractory patients. Other criteria include age, gender and comorbidities. Areas covered: Treatment for pGTCS has expanded in the last two years, with new antiepileptic drugs like perampanel joining valproic acid, lamotrigine, levetiracetam, topiramate, while further evidence-based data are required for zonisamide and lacosamide. Expert opinion: Currently, valproic acid can be considered as a first choice in male or menopausal women, and in the absence of weight issue, both in adults and in children, and in the absence of side effects such as insomnia and headache. Today, valproic acid is not recommended in child-bearing age and in relation to possible cognitive problems, especially in children. Lamotrigine and levetiracetam can be a viable alternative as a first choice. Topiramate is also effective as a first choice, but concerns may arise from its potential cognitive and memory adverse side effects. Additionally, perampanel and lacosamide are promising treatments
Bone mineral density in a population of children and adolescents with cerebral palsy and mental retardation with or without epilepsy
Purpose: The present study aimed to assess bone mineral density (BMD) in a population of children and adolescents with cerebral palsy and mental retardation with or without epilepsy. Methods: One hundred thirteen patients (63 male and 50 female) were recruited for evaluation. Patients were divided in three groups: 40 patients (group 1) were affected by cerebral palsy and mental retardation; 47 (group 2) by cerebral palsy, mental retardation, and epilepsy; and 26 (group 3) by epilepsy. The control group consisted of 63 healthy children and adolescents. Patients underwent a dual-energy x-ray absorptiometry (DEXA) scan of the lumbar spine (L1-L4), and z-score was calculated for each patient; t-score was considered for patients 18 years of age and older. Key Findings: Abnormal BMD by DEXA was found in 17 patients (42.5%) in group 1, in 33 (70.2%) in group 2, and in 3 (11.5%) in group 3. In groups 1 and 2, tetraparesis and severe/profound mental retardation were related to a significantly abnormal BMD (p = 0.003). The multivariate analysis of independent factors on BMD (z-score) revealed a significant correlation between BMD (z-score) and age (p = 0.04), body mass index (BMI; p = 0.002), severe/profound mental retardation (p = 0.03), and epilepsy (p = 0.05). Significance: A significantly lower BMD z-score value was found in patients with cerebral palsy, mental retardation, and epilepsy compared with those without epilepsy. The epileptic disorder appears to be an aggravating factor on bone health when comorbid with cerebral palsy and mental retardation. © 2012 International League Against Epilepsy
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