bluuebunny/crossref_metadata_2025 huggingface dataset:
Rett Syndrome: A Mitochondrial Disease?
Authors: Eeg-Olofsson Orvar , Al-Zuhair Ali G.H. , Teebi Ahmad S. , Daoud Azhar S. , Zaki Mohammed , Besisso Mohammed S. , Al-Essa Mazen M.N.
Published: September 2009

Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 μmol/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness and light sleep, bilateral bursts of spike or multispike-and-wave activity were seen in all but the oldest girl. In one of the younger girls, slight cortical atrophy was found on computed tomographic scan. Muscle biopsy was performed on all girls, and electron microscopy revealed abnormal mitochondria. Physical signs such as somatic hypotrophy with extremely small muscle mass, and unsatisfactory weight gain in spite of good appetite are found in Rett syndrome. These attributes, as well as reports of ornithine carbamoyltransferase deficiency, may support a mitochondrial dysfunction. The mitochondrial changes indicate either a mitochondrial mutation or more probably an X-borne modulator gene mutation. Another genetic possibility discussed is the "metabolic interference" of an X-borne allele. Further delineation of such mitochondrial changes may clarify the causal metabolic defect in Rett syndrome. ( J Child Neurol 1990;5:210-214).
Thymectomy in Juvenile Myasthenia Gravis
Authors: Adams Coleen , Theodorescu Dan , Murphy E. Gordon , Shandling Barry
Published: September 2009

The long-term results of thymectomy in 24 children with generalized myasthenia gravis are reviewed. Sixteen had complete remission and another seven were improved. This compares favorably with reported spontaneous remission rates of 30%. Because of the low morbidity in recent reports and the possibility that early thymectomy is more beneficial, we recommend thymectomy at the onset of juvenile generalized myasthenia gravis. ( J Child Neurol 1990;5:215-218).
Cerebral Infarcts and Seizures in the Neonate
Authors: Aso Kosaburou , Scher Mark S. , Mamdouha Abdab Barmada
Published: September 2009

A retrospective analysis was performed on 54 infants who suffered perinatal hypoxic-ischemic insults and came to autopsy, in an attempt to assess the association of cerebral infarcts with seizures. Fifty infants had several types of cerebrovascular Iesions, including intraventricular hemorrhage (32 cases), periventricular leukomalacia (24), ischemic neuronal necrosis (18), pontosubicular necrosis (12), cerebral infarct (9), and cerebellar hemorrhage (7). Of these infants, nine had electroencephalographic seizures. Among a variety of cerebrovascular lesions, cerebral infarcts represented the single lesion most highly correlated with seizures. The incidence of seizures in infants with cerebral infarcts (44%) was significantly higher than with other types of vascular lesions. (J Child Neitrol 1990;5:224-228).
Giant Axonal Neuropathy: Clinical, Electrophysiologic, and Neuropathologic Features in Two Siblings
Authors: Kumar Kusum , Barre Peter , Nigro Michael , Jones Margaret Z.
Published: September 2009

Giant axonal neuropathy is a progressive central-peripheral axonopathy characterized by distention of axons by aggregated neurofilaments. We report two female siblings with giant axonal neuropathy. Both patients developed symptoms of a chronic progressive polyneuropathy at age 3 years. Clinical evidence of central nervous system involvement was present in both cases. Autopsy neuropathologic examination of the older sibling at the age of 11 years revealed numerous giant axons, Rosenthal fibers, and gliosis throughout the brain and spinal cord and typical giant axons in the peripheral nerves. Electrophysiologic studies in the younger sibling indicated brain stem dysfunction, and her sural nerve biopsy revealed enlarged axons packed with neurofilaments. These patients illustrate that neurologic deficits of giant axonal neuropathy result from widespread lesions in the central, as well as peripheral (including autonomic), nervous systems. This occurrence of giant axonal neuropathy in two siblings supports a genetic origin of this disease. This is the first report of autopsy findings in giant axonal neuropathy in an affected sibling. ( J Child Neurol 1990;5:229-234).
Neuroimaging Findings in Alexander's Disease
Authors: Bobele Gary B. , Garnica Adolfo , Schaefer G. Bradley , Leonard Joe C. , Wilson Don , Marks Warren A. , Leech Richard W. , Brumback Roger A.
Published: September 2009

We present the findings from magnetic resonance imaging, computed tomographic scan, and single photon emission computed tomography of the brain in a 2-year-old girl with Alexander's disease. Computed tomographic scans showed prominent low-density white matter throughout the cerebral hemispheres. Magnetic resonance imaging showed increased T2 signal from the cerebral white matter but not the cerebellum or brain stem. Single photon emission computed tomography revealed diminished cerebral metabolism, particularly in the frontal regions, as compared with the cerebellum. (J Child Neurol 1990;5:253-258).
Vigabatrin in Refractory Epilepsy in Adults and Its Application in Children
Authors: Dam Mogens
Published: September 2009

Vigabatrin has been studied in adult drug-resistant epilepsy since 1982 in single-blind and double-blind studies followed by long-term, open evaluations. These studies have provided evidence that vigabatrin is a potent and well-tolerated antiepileptic drug and support its potential value in pediatric epilepsy. The lack of any evidence of human neurotoxicity in these patients is also reassuring regarding its use in children. (J Child Neurol 1991;6(Suppl):2525-2529).
Vigabatrin in Childhood Epilepsy
Authors: Dulac Olivier , Chiron Catherine , Luna David , Cusmai Raphaella , Pajot Nicole , Beaumont Daniel , Mondragon Sylvie
Published: September 2009

Sixty-six children with various types of severe drug-resistant epilepsy were entered into a long-term, dose-rising study of vigabatrin after a 4-week run-in placebo period. All the children were receiving one to three other antiepileptic drugs, the doses of which were not changed during the 6-month dose titration phase. Following the introduction of vigabatrin, 11 patients became seizure free, and 28 responded with a greater than 50% reduction in seizure frequency. The following types of epilepsy responded favorably in order of decreasing efficacy: cryptogenic and symptomatic partial epilepsy, other symptomatic generalized epilepsy, and Lennox-Gastaut syndrome. However, three of nine patients with myoclonic epilepsy showed an increase in seizure frequency. Optimal responses were found with vigabatrin doses of 40 to 80 mg/kg/ day, although no significant adverse effects were noted with doses of higher than 100 mg/kg/day. Thirty-eight responders continued on vigabatrin, 19 of whom have been treated for more than 1 year, with generally good efficacy. As a result of discontinuing concomitant antiepileptics, six patients are on monotherapy with vigabatrin, four of whom are seizure free. Vigabatrin tolerability was good, with 39 of 66 children reporting no adverse effects. Hyperkinesia was reported in 17 patients (26%), and two had to drop out of the study. All these patients had a history of hyperkinesia or mental retardation. In patients in whom vigabatrin dose was reduced because of hyperkinesia, a dose increase could later be instituted without recurrence of symptoms. There was no change in neurologic examination and no drug-related abnormalities in clinical laboratory data. It is concluded that this study shows that vigabatrin is safe and effective in the treatment of refractory epilepsy of various types in children. The recommended starting dose is 40 mg/kg/day, which can be increased up to 80 mg/kg/day, depending on clinical response. (J Child Neurol 1991;6(Suppl):2S30-2S37).
Dose-Response Study of Vigabatrin in Children With Refractory Epilepsy
Authors: Herranz J.L. , Arteaga R. , Farr I.N. , Valdizan E. , Beaumont D. , Armijo J.A.
Published: September 2009

Twenty children aged 2 months to 18 years were included in a dose-response study of vigabatrin as add-on therapy to preexisting antiepileptic drugs (up to two per patient). All children had severe refractory epilepsy: partial seizures with or without secondary generalization in 19, and myoclonic seizures in one. After a 2-month observation period and a 1-month add-on placebo period, a fixed dose of add-on vigabatrin was given for 2 months: 1, 1.5, or 2 g/day, according to body weight (mean dose, 60 mg/kg/day). Three patients (15%) became seizure free, and nine (45%) showed a 50% to 99% reduction in seizure frequency. In the 17 patients whose seizures were not totally suppressed, vigabatrin dose was increased for a further 2 months, and in 7 patients who still showed less than 50% reduction in seizure frequency, vigabatrin dose was increased again. Efficacy appeared unchanged by these higher doses. During a 9-month follow-up phase, no tolerance to the effects of vigabatrin was observed, with three children seizure free and 13 (65%) reporting a 50% to 99% reduction in seizure frequency. During the study, adverse effects were recorded in three children (15%), namely drowsiness, constipation, fatigue, and apathy. These effects were generally transient, being observed during the dose-modification phase and disappearing either spontaneously or on reduction of vigabatrin dose. Clinical and laboratory tolerability to vigabatrin appeared to be very good, with no patients having withdrawn from the study because of side effects. A slight reduction in red blood cell count and hemoglobin levels was noted but was of doubtful clinical significance. There was also a slight, nonsignificant decrease in phenytoin plasma levels. In conclusion, vigabatrin is an effective and well-tolerated therapy in children with refractory epilepsy at the dose of 60 mg/kg/day. Higher doses do not appear to bring any further significant benefit. (J Child Neurol 1991;6(Suppl):2S45-2S51).
Randomized Controlled Pilot Study of Vigabatrin Versus Carbamazepine Monotherapy in Newly Diagnosed Patients With Epilepsy: An Interim Report
Authors: Kälviäinen Reetta , Äikiä Marja , Partanen Juhani , Sivenius Juhani , Mumford John , Saksa Markku , Riekkinen Paavo J.
Published: September 2009

At present, 34 patients aged 15 to 63 years with newly diagnosed epilepsy have been randomly assigned to vigabatrin (n = 17) or carbamazepine (n = 17). Evaluation of clinical data, neuropsychological assessment, quantitative spectral electroencephalogram (EEG), and somatosensory- and visual-evoked potentials at baseline and after a 3 months' maintenance phase are presented for 12 patients on vigabatrin and for 11 patients on carbamazepine. Among these patients, retention rate in the maintenance phase of the study is 75% for vigabatrin patients (two noncompliant patients and one nonresponder dropped out) followed up for a mean of 11 months (range, 5 to 16 months). The retention rate for carbamazepine is 100% for the 11 patients, followed up for a mean of 9 months (range, 3 to 17 months). Patients receiving vigabatrin showed significant improvements in sustained concentration and tasks requiring flexible mental processing after the 3-month maintenance period, compared to baseline. In the carbamazepine group, there was improvement only in delayed list recall, and in contrast, errors in visuomotor tasks requiring processing increased significantly. Patients on carbamazepine demonstrated slowed occipital mean frequencies, but vigabatrin treatment was not associated with any significant quantitative EEG changes. Significant prolongation of somatosensory-evoked potential N19 latencies was seen with both carbamazepine and vigabatrin. (J Child Neurol 1991;6(Suppl):2S60-2S69).
Biochemical Heterogeneity of Infantile Central Nervous System Spongy Degeneration
Authors: Subramanyam Sarvepalli B. , Tipirneni Aparna , Youssef Nazih , Gascon Generoso G. , Ozand Pinar T.
Published: September 2009

Aspartoacylase, the enzyme whose activity is deficient in infantile central nervous system spongy degeneration (Canavan-Van Bogaert-Bertrand disease), is detected as an approximately 59-kD protein in the Sephadex G-200 filtration of normal fibroblast extracts. The enzyme activity in homogenates of fibroblasts is protected by leupeptin, a protease inhibitor. In the absence of leupeptin, 90% of aspartoacylase activity is lost. In some patients with infantile spongy degeneration, no activity (less than 2%) can be detected. In some other patients with residual activity in fibroblasts, two separate peaks of enzyme are eluted with molecular weight corresponding to approximately 59 and 19 kD. Aspartoacylase activity in this latter group is protected to the same extent by the presence of leupeptin. However, the elution of two peaks is independent of the presence of leupeptin. This study indicates biochemical heterogeneity in the pathogenesis of infantile spongy degeneration. (J Child Neurol 1992;7(Suppl):S22-S25.)
Response of 6-Pyruvoyltetrahydropterin Synthase Deficiency to Tetrahydrobiopterin
Authors: Aida Al Aqeel  , Ozand Pinar T. , Gascon Generoso G. , Hughes H. , Reynolds Cheryl T. , Subramanyam Sarvapelli B.
Published: September 2009

We have given tetrahydrobiopterin (BH4) in doses ranging from 2.5 to 20 mg/kg/day, each for a duration of 5 days to three patients with 6-pyruvoyltetrahydropterin synthase deficiency. As small a dose as 2.5 mg/kg/day BH4 reduced the blood phenylalanine to normal levels. However, the required dose of BH4 to reduce neopterin and to increase urine biopterin was 5 to 10 mg/kg/day, while 20 mg/kg/day was required for biopterin to appear in cerebrospinal fluid. The results suggest that BH4 effectively reduces endogenous neopterin synthesis. The dose of BH4 needed to normalize liver phenylalanine hydroxylase is one eighth to one fourth that required for normal neurotransmitter metabolism in the central nervous system. (J Child Neurol 1992;7(Suppl):S26-S30).
G M1 Gangliosidosis Type 2 in Two Siblings
Authors: Gascon Generoso G. , Ozand Pinar T. , Erwin Robert E.
Published: September 2009

A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient β-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of GM1 gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which β-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts. It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and myoclonic epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of GM2 gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and Alpers' disease. (J Child Neurol 1992;7(Suppl):S41-S50.)
Congenital Muscular Dystrophy With Abnormal Radiographic Myelin Pattern
Authors: Cook J.D. , Gascon G.G. , Haider A. , Coates R. , Stigsby B. , Ozand P.T. , Banna M.
Published: September 2009

We report 11 children with a homogeneous clinical syndrome affecting both sexes, characterized by weakness at birth, slowly improving course, weakness of all muscle groups, arreflexia, elevated blood creatine kinase, normal nerve conduction velocity, dystrophic changes on muscle biopsy, and diffuse periventricular cortical white-matter abnormalities with sparing of corpus callosum, internal capsule, and brain stem. We compare them to 48 other previously reported similar cases and designate them as altered myelin radiographic pattern congenital muscular dystrophy (CMD), which is the same as occidental CMD. We compare them to the other presently accepted phenotypes: progressive Fukuyama CMD, Walker-Warburg or cerebral-ocular CMD, and Santavuori or muscle-eye-brain CMD. We suggest that the different phenotypes are alleles of the same gene, which regulates or expresses a structural protein required for muscle integrity, myelination, and formation of the cortex. Such phenotypic diversity has been established for mutations of Xp21 in X-linked muscular dystrophies. (J Child Neurol 1992;7(Suppl):S51-S63.)
Coping With an Affected Birth: Genetic Counseling in Saudi Arabia
Authors: Panter-Brick C.
Published: September 2009

Saudi parents who have received genetic counseling following the birth of a child affected by a neurometabolic disorder were interviewed during their visits to a specialist hospital. As is common in the West, understanding of heredity was often incompletely assimilated, and this was related to parental education level. Coping behaviors, however, were substantially different from those in the West. The wide range of attitudes recorded toward consanguineous marriage and future births was a reflection of the position of Saudi families in a society undergoing rapid change. (J Child Neurol 1992;7(Suppl):S69-S72.)
Coincident Neuraminidase and Aspartoacylase Deficiency Associated With Chromosome 9Q Paracentric Inversion in a Saudi Family
Authors: Gascon G.G. , Youssef N.G. , Subramanyam S.B. , Ozand P.T.
Published: September 2009

A large, consanguineous Saudi family with three members with sialidosis type 1 and five members with infantile central nervous system spongy degeneration of the brain (ICNSSD, or Canavan-Bertrand-van Bogaert disease) is described. The patients with sialidosis had normal aspartoacylase activity, while neuraminidase activity in the patients with ICNSSD was reduced. All patients had normal carboxypeptidase activity in their fibroblasts. In an additional member there was photic-induced epilepsy, but he had normal enzymes. Two of the patients and one normal brother, but not the parents, had pericentric inversion of chromosome 9q. We postulate that an unidentified gene function is responsible for varied expression of these neurodegenerative diseases in this family. (J Child Neurol 1992;7(Suppl):S73-S78.)
Riyadh Chromosome Breakage Syndrome: Mental Retardation With Depigmentation of the Skin and Hair
Authors: Ozand Pinar T. , Waghray Manjula , Cook Jay D. , Sheth Kirtikant , Gascon Generoso G.
Published: September 2009

A 20-month-old infant with "silvery-blond" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and γ-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome. (J Child Neurol 1992;7(Suppl):S79-S82.)
Increased Radiosensitivity of Cell Lines Derived From a Down's Syndrome Patient With Ocular Telangiectasia
Authors: Hannan Mohammed A. , Waghray Manjula , Sigut David , Ozand Pinar T.
Published: September 2009

Studies on radiosensitivity of cells from Down's syndrome (DS) patients were stimulated by the observation of their increased susceptibility to leukemia. While lymphocytes from DS patients were found to consistently show increased chromosomal aberrations after exposure to ionizing radiation, conflicting reports have been published on the radiosensitivity of fibroblasts and lymphoblastoid cell lines (LCL) derived from these patients. In the present study, cultured skin fibroblast lines developed from a DS patient with ocular telangiectasia and five normal subjects were compared for both cell killing and chromosomal aberrations (breaks, translocations, inversions, dicentrics, and rings) after low dose-rate γ-irradiation. The LCLs developed from the patient and two normal persons were also compared for chromosomal radiosensitivity using the same irradiation protocol. A comparison of the D10 (radiation dose resulting in 10% survival) values estimated from the survival curves and the frequencies of induced chromosome aberrations in different cell lines showed that the DS cells were more radiosensitive than the respective controls. The increased cellular radiosensitivity of the DS patient reported here could be due to a combination of genetic factors (DS plus a gene for hypersensitivity to radiation) and, thus, may not be representative of all DS patients. Alternatively, the use of low dose-rate irradiation could be a factor in revealing the radiosensitivity of DS fibroblasts in general. (J Child Neurol 1992;7(Suppl):S83-S87.)
Dietary Management of Inborn Errors of Amino Acid Metabolism With Protein-Modified Diets
Authors: Thomas Enolia
Published: September 2009

This paper presents experiences encountered with protein-modified diets (PMD) in the management of 67 patients, aged 1 day to 14 years, followed in the Pediatric Nutrition Clinic in the past 5 years. All had inborn errors of amino acid metabolism : maple syrup urine disease (MSUD), 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, propionic acidemia (PPA), or methylmalonic aciduria (MMA).

In early infancy, the diet prescription is frequently adjusted to search for the infant's tolerance level of restricted amino acids. The levels must be established when natural foods other than milk are added to the PMD. The amino acids restricted are leucine, isoleucine, and valine in MSUD; leucine in HMG-CoA lyase deficiency; and isoleucine, methionine, threonine, and valine in PPA and MMA. Efficacy of the PMD depends on accuracy in prediction of the restricted amino acid requirement and the willingness and ability of parents and patients to conform to its demands. (J Child Neurol 1992;7(Suppl):S92-S111.)
CT and MRI of the Brain in Inherited Neurometabolic Disorders
Authors: Brismar Jan
Published: September 2009

The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling. (J Child Neurol 1992;7(Suppl):S112-S131.)
Experimental Models of Epilepsy in Young Animals
Authors: Kubová Hana , Moshé Solomon L.
Published: September 2009

Seizures occur more frequently early in life. Some of these early seizures may eventually become epilepsy. Others are reactive seizures due to excessive environmental stimuli that, in any other age group, might not have elicited a similar response. To understand the developmental aspects of seizures and epilepsy in humans, it is important to study these processes in animals of equivalent ages. In this paper, we describe several animal models of developmental seizures, including their electroclinical manifestations and their validity in respect to human epileptic syndromes. There are several factors that may account for the increased seizure susceptibility of the immature brain, including the delayed development of effective systems or synaptic networks that are involved in the suppression of seizures. A better insight of the basic pathophysiology of seizures as a function of age in animal models will lead to the development of new therapeutic approaches for the treatment of age-specific epileptic disorders in humans. (J Child Neurol 1994;9(Suppl):S3-S11).
Inherited Epilepsies of Childhood
Authors: Buchhalter Jeffrey R.
Published: September 2009

Recent advances in neuroepidemiologic and molecular biological techniques have facilitated a growing understanding of the role that inherited factors play in epileptogenesis. During the last few years linkage analysis has mapped gene loci associated with the following epilepsy syndromes: benign familial neonatal convulsions, juvenile myoclonic epilepsy, Unverricht-Lundborg/Baltic/Mediterranean progressive myoclonic epilepsies, the juvenile form of ceroid lipofuscinosis, sialidosis I, and the myoclonus epilepsy with ragged red fibers (MERRF) syndrome. In addition, characterization of the inheritance patterns of other syndromes such as childhood epilepsy with occipital paroxysms and febrile convulsions has improved. It is apparent that a significant amount of clinical and genetic heterogeneity exists, which emphasizes the importance of accurate clinical classification. As genetic markers are found for well-defmed groups of patients, traditional means of classification (seizure type, pathologic markers, progressive course, etc.) become less meaningful. It is proposed that the components of the phenotype of an epilepsy syndrome (eg, age of onset, seizure type, electroencephalographic pattern) may be controlled by multiple genes. (J Child Neurol 1994;9(Suppl)S12-S19).
Testing Antiepileptic Drugs In Children
Authors: French Jacqueline A. , Leppik Ilo
Published: September 2009

Few drugs have been approved by the Food and Drug Administration specifically for the treatment of pediatric patients with epilepsy in the United States. There are many factors that make tests of drugs in this group different from studies among adults. This report reviews issues that must be considered in designing studies that will help bring to market antiepileptic drugs for children. Information on the wide variety of antiepileptic drugs rapidly being developed can only be obtained through well-controlled, well-designed clinical trials. Despite the obstacles and pitfalls, trials among the pediatric population are necessary to establish the unique efficacy and safety profile of each drug and to determine the target population most likely to benefit from each drug. (J Child Neurol 1994;9(Suppl):S26-S32)
Long-Term EEG Monitoring for Difficult Seizure Problems
Authors: Donat Jane F.
Published: September 2009

Long-term electroencephalographic (EEG) monitoring, initially popular in the form of 24-hour video-EEG telemetries developed for the evaluation of patients who were candidates for epilepsy surgery, is now possible in diverse configurations. Studies can be designed to evaluate a variety of diagnostic problems and can be individualized to address specific clinical questions for each patient. A great variety of severe epilepsies present in infancy and childhood with daily seizures, often presenting difficult diagnostic problems. Extending the benefits of long-term EEG monitoring to these patients early in the course of the epileptic process can be expected to result in more accurate diagnoses, more effective treatment, and improved prognoses. Long-term EEG monitoring is needed to improve our understanding of the nosology of infant epilepsy, which is incomplete. ( J Child Neurol 1994;9(Suppl):S57-S63).
Children With Seizures: When Can Treatment Be Deferred?
Authors: Wyllie Elaine
Published: September 2009

The decision whether or not to recommend chronic antiepileptic drug treatment for a child with seizures requires a risk-benefit analysis tailored to each individual case. Because all of the available antiepileptic medications have some potential adverse effects, the analysis may weigh in favor of a decision not to treat. Three clinical scenarios in pediatrics in which the no-treatment option may often be appropriate include a single unprovoked seizure, febrile seizures, and benign focal epilepsy of childhood. (J Child Neurol 1994;9(Suppl);2S8-2S13).
Syndromic Classification in the Management of Childhood Epilepsy
Authors: Aicardi Jean
Published: September 2009

Epilepsy syndromes, defmed as clusters of symptoms or signs occurring consistently together, form the basis of the currently accepted classification of the epilepsies. The concept of epilepsy syndrome is practical for the diagnosis, prognosis, orientation of treatment, and selection of appropriate investigations, but it is of variable specificity and usually does not give information on causes and mechanisms of an epilepsy. Some syndromes, such as childhood absences, partial epilepsy with centrotemporal spikes, or juvenile myoclonic epilepsy, are precisely characterized while other syndromes such as grand mal on awakening or the multiple syndromes with myoclonic seizures are poorly delineated. The usefulness of the concept is limited to well-defined and generally accepted syndromes and many cases of epilepsy do not fit easily in recognizable syndromes. (J Child Neurol 1994; 9(Suppl):2S14-2S18).
Status Epilepticus in Children: Update and Review
Authors: Pellock John M.
Published: September 2009

This report presents a brief description and classification of status epilepticus. This neurologic emergency occurs more frequently in young children and elderly adults, although patients of all ages may experience prolonged seizures. The pathophysiology and prognosis of the disorder are presented, as well as a review of drugs commonly used for the treatment of convulsive status epilepticus. The morbidity and mortality of status epilepticus are significant and directly dependent upon prompt and appropriate medical therapy. Advances in understanding various aspects of status epilepticus may lead to improved outcome for affected patients. (J Child Neurol 1994;9(Suppl):2S27-2S35).
Neurobiologic Considerations in Early Surgery for Epilepsy
Authors: Duchowny Michael , Levin Bonnie , Jayakar Prasanna , Resnick Trevor J.
Published: September 2009

Children with well-localized medically resistant seizures are often referred for surgical therapy. In young children, at least three maturational issues playa significant role in the selection process and long-term outcome. First, the early years are a time of exceptionally rapid brain development leading to dynamic changes in the electroencephalogram and the clinical expression of seizures. Many early-onset seizure presentations are also associated with catastrophic outcomes, developmental arrest, or regression. Second, the immature limbic system may be vulnerable to stresses operating in early life, although the consequences may not become apparent for many years. Third, in comparison to the adult, the child's nervous system typically exhibits superior functional recovery after lesioning, but the process of sparing and recovery is often incomplete. An understanding of how these neurobiologic factors influence developmental outcome will ultimately lead to greater selectivity of candidates for early surgery and to improved long-term prognosis. (J Child Neurol 1994;9(Suppl):2S42-2S49).
Lamotrigine: Pharmacokinetics
Authors: Garnett William R.
Published: September 2009

The pharmacokinetics of lamotrigine have been studied in single and multiple dose studies in animals, normal volunteers, and patients with epilepsy. Lamotrigine exhibits first-order linear pharmacokinetics. Lamotrigine is well absorbed with bioavailability approaching 100%. The absorption is unaffected by food and there is no first-pass metabolism. The volume of distribution is between 1.25 and 1.47 L/kg and protein binding is about 55%. The half-life of lamotrigine is between 24.1 and 35 hours in drug naive adults but may be altered by enzyme inducing and inhibiting drugs. Clinical trials demonstrated no evidence of autoinduction or saturable metabolism. Younger children (0.17 to 5 years) eliminate lamotrigine faster than older children (5 to 10 years). Children may be more prone to enzyme induction than adults. (J Child Neurol 1997;12(Suppl 1):S10-S15).
Epilepsies With Partial Seizures in Childhood
Authors: Dreifuss Fritz E.
Published: September 2009

Individual seizures are described as either partial (localization related) or generalized depending on whether a localized area of cerebral cortex is symptomatically involved sufficient to impart to the seizure a focal signature or whether sufficient cortex is involved sufficiently rapidly to appear as if generalized from the outset. This distinction is of some diagnostic and therapeutic importance. However, it has become evident that the prognosis of the patient's epilepsy is less a function of the seizure type than it is of the etiology and of the nature of the syndrome that the seizures represent. This approach is stressed in this chapter as is the regret that there is frequently a delay in the acknowledgment of the usefulness of a new drug in childhood epilepsies, as exemplified by lamotrigine. (J Child Neurol 1997;12(Suppl 1):S19-S22).
Use of Lamotrigine in Lennox-Gastaut and Related Epilepsy Syndromes
Authors: Dulac Olivier , Kaminska Anna
Published: September 2009

Lennox-Gastaut syndrome, a combination of various generalized seizures including atypical absences and tonic seizures with generalized slow spike waves and mental deterioration, is often difficult to distinguish from a subgroup of myoclonic-astatic epilepsy, other generalized epilepsy syndromes, and various symptomatic generalized epilepsies. Conventional antiepileptic medication is poorly effective in this condition, particularly because various types of seizures respond differently to each given drug. Lamotrigine is effective in the various types of generalized seizures and efficacy has been demonstrated in Lennox-Gastaut syndrome. Given the potential of major mental deterioration within a matter of months in this condition, and the need of slow dose escalation in order to prevent skin rash, lamotrigine should be administered as soon as the diagnosis of Lennox-Gastaut syndrome is suspected. In addition, there is growing evidence that lamotrigine is also most useful in the subgroup of myoclonic-astatic epilepsy beginning in childhood, and that these patients should benefit from the drug like those affected by Lennox-Gastaut syndrome, as soon as the diagnosis is suspected. However, this drug may worsen other cases of myoclonic-astatic epilepsy beginning in infancy. These clinical observations add to the evidence for the need of clear diagnostic work-up before appropriate drug therapy is decided in pediatric epilepsy. (J Child Neurol 1997;12(Suppl 1):S23-S28).
Meeting the Challenge of Epilepsy in Persons With Multiple Handicaps
Authors: Sunder Theodore R.
Published: September 2009

Epilepsy occurs in more than 30% of persons with mental retardation and up to 50% of those with multiple handicaps living in institutional settings. Treatment of epilepsy in this population presents many unique challenges. Through careful adherence to basic principles of diagnosis, classification, and antiepileptic drug use, as many as 80% of individuals can be successfully managed with one- or two-drug therapy and enjoy positive outcomes in the areas of community integration and increased independence. Rational polypharmacy with the newer anticonvulsant drugs offers additional opportunity for improving outcomes for these individuals, especially with the use of felbamate and lamotrigine, where broad-spectrum efficacy and positive impact on psychosocial functioning is being demonstrated. Further systematic study of new drugs in this population is clearly warranted. ( J Child Neurol 1997;12(Suppl 1):S38-S43).
Overview of Lamotrigine and the New Antiepileptic Drugs: The Challenge
Authors: Pellock John M.
Published: September 2009

Lamotrigine, like all antiepileptic drugs, can be effective when used as monotherapy or adjunctive therapy. In general, adverse effects are reduced when monotherapy is employed. The most frequent adverse effect prompting withdrawal of lamotrigine is rash. This potentially life-threatening adverse effect occurs more frequently in children, is increased when a rapid dose titration schedule is employed, and is greater when lamotrigine is prescribed in combination with valproate. The availability of lamotrigine and other antiepileptic drugs represents a major advance for the treatment of childhood epilepsy. The challenge in using all of the new antiepileptic drugs, including lamotrigine, is to balance the expected improved efficacy with the potentially serious adverse effects. (J Child Neurol 1997;12(Suppl 1):S48-S52).
Brain Injury With Prolonged Seizures in Children and Adults
Authors: Moshé Solomon L.
Published: September 2009

Some retrospective studies have suggested that there is a relationship between seizures early in life and the development of hippocampal damage (mesial temporal lobe hippocampal sclerosis) leading to intractable temporal lobe epilepsy in late childhood or adulthood. Recent prospective epidemiologic studies have not confirmed such a relationship, however, and many questions remain. Some of these questions are being addressed by animal studies. In adult rats, experimental seizures produce varying degrees of hippocampal damage and subsequent spontaneous seizures; the older the rat, the greater the hippocampal injury. The preponderance of available data indicate that such seizure-induced hippocampal damage may not occur in normally developing rats up to a certain age that may correspond to late childhood in humans. However, if the brain is already compromised, seizures early in life may produce hippocampal damage, depending on the nature of the initial lesion. Thus, the consequences of seizures appear to be age and etiology specific. Additional clinical and basic science studies are needed to clarify the neurobiology of seizure-induced hippocampal damage in children. (J Child Neurol 1998;13(Suppl 1):S3-S6).
Clinical Issues in Acute Childhood Seizure Management in the Emergency Department
Authors: Temdrup Thomas E.
Published: September 2009

Generalized tonic-clonic seizure activity in infants and children frequently leads to an emergency department visit, often after emergency medical service personnel, such as paramedics, provide initial evaluation and treatment. Important subsets of patients who present to the emergency department include those with non-seizure-mediated movements, those with nongeneralized seizure activity, those with complications of anticonvulsant therapy, and those with status epilepticus. Recognizing, diagnosing, and treating these conditions and minimizing complications are key issues to be considered in the refinement of emergency department practice. Of the children with seizures who are seen in the emergency department, those with febrile convulsions or exacerbations of underlying seizure disorders predominate, while those with new-onset epilepsy or other seizure disorders account for a smaller proportion. Current issues in the emergency department management of seizures in children include: (1) modifying interventions to stabilize patients and simultaneously minimize the physiologic deterioration accompanying generalized seizures; (2) selection, initiation, administration, and refinement of anticonvulsant therapy; (3) minimizing complications of prolonged seizures and their treatment; (4) rapid recognition and treatment of life-threatening illnesses that underlie seizure presentations; (5) selection of appropriate diagnostic measures; and (6) use of electroencephalography in selected patients. (J Child Neurol 1998;13(Suppl 1):S7-S10).
Additional Modalities for Treating Acute Seizures in Children: Overview
Authors: Bebin Elizabeth Martina
Published: September 2009

The pharmacologic interventions for treatment of acute repetitive seizures and those for treatment of status epilepticus are similar. The choice of treatment should be based on the drug's onset of action, spectrum of anticonvulsant activity, route and ease of administration, elimination half-life, therapeutic margin of safety, and redistribution from the central nervous system. Treatment should be initiated early in patients who are prone to seizure clusters or prolonged partial seizures that may generalize or progress to status epilepticus. Benzodiazepines have become first-line drugs for treatment of acute seizures and status epilepticus, followed by phenytoin/fosphenytoin and phenobarbital. Short-acting benzodiazepines, including diazepam, lorazepam, clonazepam, and midazolam, can decrease the frequency of emergency department visits if given at the appropriate times. The recently approved intravenous formulation of valproate may be of use in children receiving oral valproate who develop breakthrough seizures caused by subtherapeutic plasma levels that are secondary to missed doses or an inability to tolerate oral valproate. (J Child Neurol 1998;13(Suppl 1):S23-S26).
Pharmacoeconomic Considerations in Treatment Options for Acute Seizures
Authors: Graves Nina
Published: September 2009

Two pharmacoeconomic studies on the treatment of acute seizures have been conducted. In 1991, Kriel and colleagues surveyed parents of children with a history of cluster seizures, prolonged seizures, or status epilepticus who had been instructed in the use of rectal diazepam. A comparison of data before instruction with data after instruction showed a reduced need for emergency department visits with rectal diazepam. Instruction thus provided a pharmacoeconomic benefit, despite the cost of the product. In 1996, Marchetti and coworkers found that intravenous fosphenytoin was associated with fewer adverse events than intravenous phenytoin. Fosphenytoin thus reduced the need for adverse event management and provided a substantial pharmacoeconomic benefit, despite its higher cost, compared with phenytoin. This study had a number of limitations, however, and hospital pharmacists remain resistant to the use of fosphenytoin. Additional studies may provide more pharmacoeconomic data to support the greater use of fosphenytoin in the treatment of acute pediatric seizures. (J Child Neurol 1998;13(Suppl 1):S27-S29).
Tele-ICU: Experience To Date
Authors: Lilly Craig M. , Thomas Eric J.
Published: September 2009

Tele-intensive care unit (ICU) is a care provided to critically ill patients by off-site clinicians using audio, video, and electronic links to leverage technical, informational, and clinical resources. Providing care includes the ability to detect patient’s instability or laboratory abnormalities in real-time, collect additional clinical information from or about the patient, order diagnostic testing, make diagnoses, implement treatment, render other forms of intensive care such as managing life-support devices, and communicate with patients and bedside providers. This review summarizes how tele-ICU services are delivered, the alternative approaches that have been used, and summarizes published reports of its effects on patient-focused outcomes. Tele-ICU is thought to have great promise to support critically ill adults.
The Differential Effects of Forms and Settings of Exposure to Violence on Adolescents’ Adjustment
Authors: Ho Man Yee , Cheung Fanny M.
Published: September 2009

This study investigated the link between exposure to violence and psychosocial adjustment for 442 Chinese secondary school students in Form 1-3. The students completed an inventory assessing exposure to violence through witnessing and through direct victimization in different settings (community, school, and home). Multiple measures and informants (i.e., self-report, teacher report, and school report) were used to assess emotional, behavioral, and cognitive functioning in adolescents. The results of this study showed that overall exposure to violence was related to emotional and behavior problems. High rates of exposure to violence across multiple contexts were found in this sample. After controlling for the co-occurrence of risk factors (e.g., exposure to violence in other settings), both witnessing school violence and being victimized by domestic violence were associated with emotional problems, whereas being victimized by community violence was related to behavior problems. These results suggest that there are differential effects of risks associated with different forms and settings of exposure.
Effects of Level of Internet Retailer’s Service Quality on Perceived Apparel Quality, Perceived Service Quality, Perceived Value, Satisfaction, and Behavioral Intentions Toward an Internet Retailer
Authors: Kim Jihyun , Damhorst Mary Lynn
Published: September 2009

The purpose of this study was to examine the effects of the level of Internet retailer’s service quality (IRSQ) on perceived apparel quality, perceived service quality, consumer value perception of apparel shopping, satisfaction with apparel shopping experience, and future behavioral intentions regarding apparel shopping with the Internet retailer. We also investigated interrelationships among these variables in both IRSQ levels. The quality-value-satisfaction model (Cronin, Brady, & Hult, 2000) was adopted and expanded to serve as a theoretical framework for this study. A convenience sample of 361 female college students in two U.S. regions participated in and provided usable responses to this experimental study. Multi-group analysis via a structural equation modeling technique revealed positive interrelationships between perceived apparel quality, perceived service quality, perceived value, satisfaction, and behavioral intentions. In addition, these interrelationships were stronger in higher IRSQ level, compared to the lower level. Implications and recommendations for future research are discussed.
Doping and effects of anabolic androgenic steroids on the heart: histological, ultrastructural, and echocardiographic assessment in strength athletes
Authors: Hassan NA , Salem MF , Sayed Mael
Published: September 2009

Anabolic androgenic steroids (AAS) are used by some athletes to enhance performance despite the health risk they may pose in some persons. This work was carried out to evaluate the possible structural and functional alterations in the heart using two-dimensional, M-mode, tissue Doppler imaging (TDI) and strain rate imaging (SRI) in athletes using supraphysiological doses of AAS. Additionally, the histological and ultrastructural changes in cardiac muscles of adult albino rats after injection of sustanon, as an example of AAS, were studied. Fifteen male bodybuilders using anabolic steroids constituted group 1, five male bodybuilders who are not using anabolic steroids constituted group 2, and five nonathletic males constituted negative control group (group 3). They were investigated by two-dimensional, M-mode, TDI and SRI. This study was performed on 30 adult albino rats. They were divided into two groups. Group I (Control group) (10) was subdivided into negative control, subgroup 1a (5), and subgroup 1b (5), which received 0.8 ml olive oil intramuscular once a week for 8 weeks. Group II (Experimental group) (20) received sustanon 10 mg/kg intramuscularly once a week for 8 weeks. The heart specimens were prepared for light microscopy and transmission electron microscopy. Echocardiographic results showed that bodybuilders who use steroids have smaller left ventricular dimension with thicker walls, impaired diastolic function, as well as higher peak systolic strain rate in steroid-using bodybuilders as compared to the other two groups. Light microscopy examination of cardiac muscle fibers showed focal areas of degeneration with loss of striations and vacuolation in the experimental group. Ultrastructural examination showed disturbance of the banding pattern of the cardiac muscle fiber with disintegration, loss of striations, dehiscent intercalated disc, and interrupted Z-bands. Administration of supraphysiological doses of AAS caused severe deleterious effects in the myocardium both in athletes and in experimental animals. The SRI shows promise in the early detection of systolic dysfunction in those athletes who use steroids.