Orvar Eeg-Olofsson

Neuropsychological findings in children with benign childhood epilepsy with centrotemporal spikes

Benign childhood epilepsy with centrotemporal spikes (BCECTS) is a well‐known idiopathic age‐ and localization‐related epileptic syndrome with characteristic clinical and EEG manifestations. Due to the reported benign evolution of this epilepsy syndrome, neuropsychological assessment has been considered unnecessary. However, the benign nature of BCECTS has recently been challenged: verbal dysfunction as well as impaired visuomotor coordination, specific learning disabilities, and attention deficit have been noticed. These findings prompted this research study in which all children with BCECTS attending our epilepsy clinic underwent neuropsychological assessment. Seventeen children (10 boys and seven girls) aged 7 to 14 years were investigated with a neuropsychological test battery focusing on immediate and delayed recall of auditory‐verbal and visual material, verbal fluency, problem‐solving ability, and visuospatial constructional ability. Ravens coloured matrices and questionnaires regarding school functioning and behaviour were also administered. The children were matched with control subjects for age, sex, and school. Children with BCECTS had significantly lower scores than their control subject partners on the neuropsychological items. Intellectual abilities did not differ and neither did school functioning or behaviour according to teachers. Parents, however, recognized greater difficulties with concentration, temperament, and impulsiveness in children with BCECTS.

Epidemiology of Infantile Spasms in Sweden

Summary: We performed a retrospective study of infantile spasms (IS) in 57 children (19 girls and 38 boys) from the east‐central region of Sweden for the period 1987 1991. The incidence was 0.45/1,000newbornsa year, with a spread of 0.17–0.76 between the seven counties included. Forty‐three cases (75%) were symptomatic and 14 (25%) were idiopathic. Cerebral malformations were diagnosed in 8 children, and chromosomal aberrations were diagnosed in 5. In addition, 2 children each were diagnosed as having tuberous sclerosis and neurofibromatosis. At follow‐up, 57% in the idiopathic group had normal development, whereas 91% in the symptomatic group had died or developed a multihandicap. The value of modern neuroradiological techniques for etiological diagnosis is stressed.

D-2-Hydroxyglutaric aciduria: Further clinical delineation

It has recently been recognized that D-2-hydroxyglutaric aciduria is a distinct neurometabolic disorder with a severe and a mild phenotype. Whereas the clinical and neuroimaging findings of the severe phenotype were homogeneous among the patients, the findings in the mild phenotype were much more variable, leaving the clinical picture poorly defined. We were able to collect the clinical, biochemical and neuroimaging data on an additional 8 patients with D-2-hydroxyglutaric aciduria, 4 with the severe and 4 with the mild phenotype. With the new information, it becomes clear that the mild phenotype shares the essential characteristics of the severe phenotype. The most frequent findings, regardless of the clinical phenotype, are epilepsy, hypotonia and psychomotor retardation. Additional findings, mainly occurring in the severe phenotype, are episodic vomiting, cardiomyopathy, inspiratory stridor and apnoeas. The most consistent MRI finding is enlargement of the lateral ventricles, occipital more than frontal. Regardless of the clinical phenotype, early MRI shows in addition subependymal cysts and signs of delayed cerebral maturation. Later MRI may reveal multifocal cerebral white-matter abnormalities. Two patients had vascular abnormalities, but it is as yet unclear whether these are related to D-2-hydroxyglutaric aciduria or are incidental findings.

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency

K. M. GIBSON 1., C. JAKOBS 2, H. OGIER 3, L. HAGENFELDT 4, K. EDEBOL EEG-OLOFSSON 5, O. EEG-OLOFSSON 5, E AKSU 6, H.-R WEBER 6, E. ROSSIER 7, B. VOLLMER 7 and W. LEHNERT 8 JBaylor Research Institute and Baylor University Medical Center, Dallas, Texas, USA; 2Department of Pediatrics, Free University Amsterdam, The Netherlands; 3Department of Pediatrics, HOpital Robert Debre, Paris, France; 4University Hospital Huddinge; and 5University Childrens Hospital, Uppsala, Sweden; Childrens Hospital and Department of Clinical Genetics, 6Liidenscheid, 7Tubingen and 8Freiburg, Germany

Photic stimulation - Standardization of screening methods.

PURPOSEnDifferences in methodology of intermittent photic stimulation within and between countries in Europe make collaborative research and interpretation of results difficult.nnnMETHODnExperts in the field of photic stimulation from European countries have given an overview of methods used in routine photic stimulation. A consensus meeting was organized in May 1996 in the Netherlands.nnnRESULTSnMethodology, including specification of a photo stimulator, procedure of photic stimulation, and interpretation of EEG results, has been defined according to available scientific and clinical knowledge.nnnCONCLUSIONSnConsensus was reached in setting up a safe, quick, simple and reliable method to determine whether or not patients are photosensitive. A specification of an international standard for intermittent photic stimulation in the routine EEG examination is given with the purpose of improving patient care and facilitating collaborative research.

Children with rolandic epilepsy have abnormalities of oromotor and dichotic listening performance.

Twenty children (11 females; age range 8y 2mo to 14y 7mo, mean 10y 6mo, SD 1y 8mo) with electroclinically typical rolandic epilepsy (RE), were investigated to demonstrate possible occurrence of abnormal oromotor functions and oral sensibility, linguistic problems, and impaired auditory discrimination. Twelve children were treated with an antiepileptic drug (carbamazepine, valproate, or sulthiame). They were compared with an age- and sex-matched control group of 24 children (14 females; age range 8y 2mo to 14y 5mo, mean 11y, SD 1y 8mo). The test battery included tests for facial expressions, lip and tongue movements, repeated syllables, and articulation using nonsense and tongue-twisting words. Sensibility on tongue and lips was tested with two-point discrimination. As language tests, Rapid Confrontation Naming, orthographic, and phonologic decoding tests were used. A dichotic listening test was performed in 13 children with RE and in 14 controls. Compared to control children, those with RE had significantly greater problems concerning tongue movements (p < 0.05) and articulation (nonsense words and tongue-twisting words; p < 0.01), and worse performance on dichotic listening (p < 0.05). Oro-lingual sensibility and results of language tests did not differ between those with RE and control children. The results indicate that children with RE have distinct but mild problems with oromotor performance and auditory discrimination.

D-2-Hydroxyglutaric Aciduria With Cerebral, Vascular, and Muscular Abnormalities in a 14-Year-Old Boy:

D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. Cardiomegaly with aortic insufficiency was diagnosed. Magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. Autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process. (J Child Neurol 2000;15:488-492).

The Incidence of 14 and 6 per Second Positive Spikes in a Population of Normal Children

In a selected normal series of children the occurrence of 14 and 6 per second positive spikes was studied. As the phenomenon only appeared in children from two years onwards, the material was limited to children between the ages of 2 and 16 years. 472 eegs with successful sleep registrations were obtained in the same number of children. In some records, besides typical 14 and 6 per second positive spikes, we also found atypical or abortive 14 and 6 per second positive spikes. In other records again we noticed only atypical 14 and 6 per second positive spikes; these we have called ‘14–6’ and ‘14–6?’. The ‘14–6’ type was found in 35 children (7.4 per cent) and only the ‘14–6?’ type in 32 children (6.8 per cent) with a combined frequency of 14.2 per cent. The peak incidence of ‘14–6’ was found in the age‐group 12–13 years (13.9 per cent) and for ‘14–6?’ in the age‐group 10–11 years (13.1 per cent). The combined peak incidence was found in the age‐group 12–13 years where the frequency amounted to approximately 25 per cent. No statistically significant sex or age differences were verified.

Demonstration in children of oligoclonal IgG bands in unconcentrated CSF using agarose isoelectric focusing and immunolabeling

Agarose isoelectric focusing, followed by protein transfer to cellulose nitrate membrane and double-antibody avidin-biotin peroxidase staining (avidin-biotin agarose isoelectric focusing), was used to demonstrate oligoclonal IgG bands in unconcentrated cerebrospinal fluid (CSF) and serum; 161 consecutive pediatric patients, ages 6 months to 16 years with a variety of mainly neurologic disorders, were studied. The procedure was standardized for agarose isoelectric focusing (AIF) using 5 microliter specimens containing 125 ng of IgG. Oligoclonal bands were found in the CSF of 12% of the patients; bands were found simultaneously in the CSF and serum of 10% of the patients, mostly those with nervous system infections, but also those with central nervous system tumors, seizures, or migraine. In about 50% of positive cases, oligoclonal bands constituted the only CSF abnormality, reflecting an abnormal humoral immune response within the CSF-central nervous system compartment. Avidin-biotin AIF can be recommended as an integrated part of routine CSF examinations in children.

Efficacy and tolerability of the new antiepileptic drugs: commentary on the recently published practice parameters.

Efficacy and tolerability of the new antiepileptic drugs : commentary on the recently published practice parameters.