EEG findings in Konzo: a spastic para/tetraparesis of acute onset.

EEGs were recorded on 21 konzo subjects (median age 17 years) and 13 of their close healthy relatives (median age 41 years). Konzo subjects were clinically selected and classified according to the WHO criteria. Standard waking EEG recordings were performed according to the International 10-20 System. Slowing of the background activity with theta activity was the most common abnormality (57%). The more clinically severely affected the konzo subject, the more often generalized EEG abnormalities were seen. None of these abnormalities were considered specific for konzo nor related to the duration of the disorder; however, the findings indicate involvement of the cerebral cortex.

Neuro-ophthalmologic findings in konzo, an upper motor neuron disorder in Africa.

PURPOSE: To investigate the neuro-ophthalmological manifestations in konzo, a non-progressive symmetric spastic para/tetraparesis of acute onset associated with consumption of insufficiently processed bitter cassava roots combined with a low protein intake. METHODS: Twenty-one Congolese konzo patients underwent neuro-ophthalmological investigations including visual acuity testing, assessment of light pupillary reflexes, evaluation of ocular motility and deviation, direct ophthalmoscopy, and visual field perimetry. Objective refraction including retinoscopy and keratometry, and slit-lamp biomicroscopy were also done. RESULTS: Five patients had visual impairment, and 14 had temporal pallor of the optic disc. Fourteen presented visual field defects, the most frequent being concentric constriction and peripheral defects. Overall, 11 subjects had symptoms qualifying for the diagnosis of optic neuropathy. Two had spontaneous pendular nystagmus in primary position of gaze. Visual field defects and pallor of the optic discs were found in mild, moderate and severe forms of konzo. No correlation was found between the severity of the motor disability of konzo and the extent of visual field loss. CONCLUSIONS: Konzo was associated with optic neuropathy and a few patients had nystagmus. Although the etiopathogenesis of this optic neuropathy remains to be elucidated, the symmetry of the involvement suggests a toxic origin. We suggest that cyanide causes the neuro-ophthalmological damage in konzo. However, the optic neuropathy in konzo patients does not resemble the features of the epidemic optic neuropathy in Tanzania, Cuba or Nigeria, Leber's hereditary optic neuropathy, tobacco amblyopia or vitamin B deficiency.

Impairments, disabilities and handicap pattern in konzo--a non-progressive spastic para/tetraparesis of acute onset.

PURPOSE: To assess impairments, disabilities and handicap pattern in konzo. METHOD: The study included 17 konzo subjects, of which three were males and 14 females (mean age 21, median 18 years). A detailed neurological examination was performed on all subjects. Subsequently, an assessment of impairments, disabilities and handicap was done with a constructed rating scale partially based on the ICIDH-2 framework. RESULTS: The overall disablement picture in all subjects consisted of motor dysfunction in lower limbs leading to limitations in walking and movement activities, and restrictions in mobility. Hip mobility was severely impaired in most cases (15/17). Although konzo subjects showed normal muscle power in upper limbs (13/17), they had impaired fine motor function (10/17). CONCLUSION: Further studies are needed to assess the effectiveness of the WHO criteria for konzo in defining its forms. The applicability of the ICIDH-2 framework in this study demonstrates the possibility of its use as a common language among researchers in the field of motor disorders. However, a revision is suggested of its taxonomy, and a definition of operational criteria to clarify the content of different qualifiers provided to assess the level of functioning or disability.

Hippocampal asymmetries and white matter abnormalities on MRI in benign childhood epilepsy with centrotemporal spikes.

PURPOSE: To look for brain abnormalities by using magnetic resonance imaging (MRI) in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS), which is the most common epilepsy syndrome in children. METHODS: Eighteen children, aged 6-12 years, with typical BCECTS were examined with MRI, six of them twice. RESULTS: Some hippocampal abnormality was found in six (33%) of the children, all with the syndrome's typical electroencephalogram (EEG) pattern ipsilaterally. Hippocampal size asymmetry was found in five (28%) children (right side < left in two and left < right in three), and high signal intensities on T2-weighted images were found in three (17%). Two children also had other abnormalities; one had a heterotopic nodule near the contralateral frontal horn, and one had an Arnold-Chiari malformation. The hippocampal asymmetry remained unchanged in three of the children who were reexamined after 2 years. High signal intensities on T2-weighted images were seen beneath the cortex-white matter junction in the frontal and temporal lobes of five (28%) children, one of whom also had a hippocampal asymmetry. MRIs were normal in eight (44%) children. CONCLUSION: For the first time, hippocampal asymmetries and white-matter abnormalities have been detectable on the MRIs of children with typical BCECTS. The etiology of the former is unclear, whereas the latter may be a result of a maturational delay involving a defective myelination. Long-term follow-up studies are needed to evaluate the relation between these findings and the clinical course of BCECTS.

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. Raven's 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.

Early oral behaviour in preterm infants during breastfeeding: an electromyographic study.

UNLABELLED: The objectives were to increase the understanding of the characteristics of oral behaviour during breastfeeding in preterm infants and to validate direct observations of infant sucking. Twenty-six infants were investigated once by simultaneous observation and surface electromyography (EMG) at 32.1-37.1 postmenstrual weeks. The orbicularis oris muscle was used for data analysis, as it provided the most distinct registrations. High correlation coefficients were observed with respect to classifications of EMG data by two raters on the number of sucks per burst (r = 0.97) and duration of sucking bursts (r = 0.99). The agreement between direct observations of sucking and EMG data was high. The median for mean number of sucks per burst was 8 (range 2-33) and for longest burst 28 (5-96) sucks. Sucks with low and very high intensity constituted a median of 14 (1-94)% and 25 (0-87)% of all sucks. The range in mean sucking frequency was 1.0-1.8 sucks s(-1). Suck duration ranged from 0.6 to 1.1 s. There was a considerable variation between infants in the extent of mouthing. No association with maturational level appeared for any of the components in oral behaviour. CONCLUSION: EMG data provided evidence of early sucking competence in preterm infants during breastfeeding, with wide individual variations. Surface EMG and direct observation are recommended as valid methods in the evaluation of breastfeeding behaviour in preterm infants.

Results of biofeedback in constipated patients: a prospective study.

PURPOSE: The aims of this study were to assess the results of biofeedback treatment in constipated patients and to identify variables that might be used to predict the outcome. METHOD: Twenty-eight patients (5 men; median age, 46 (range, 22-72) years) with any degree of paradoxical activation measured with thin hook needle electromyography in the external sphincter or puborectalis muscle were included. The symptom duration varied between 1 and 30 (median, 9) years. The patients had eight outpatient training sessions with electromyography-based audiovisual feedback. All patients were followed up prospectively with a validated bowel function questionnaire from which a symptom index was created. RESULTS: At three months, nine patients had no improvement and underwent other treatments. The remaining 19 patients were followed up for a median of 14 (range, 12-34) months. Twelve patients (43 percent) stated they had improved rectal emptying. A good result was associated with increased stool frequency (P < 0.05), improved symptom index (P < 0.01), and reduction of laxative use (P < 0.05). A long symptom duration, a high pretreatment symptom index, and laxative use were related to a poor result (P < 0.01-0.05). The improved group had less perineal descent (P < 0.05), and a prominent puborectalis impression on defecography tended to be more common (P = 0.06). CONCLUSION: With the use of wide inclusion criteria, biofeedback was successful in 43 percent of patients, with a treatment effect lasting at least one year. The results suggest that biofeedback should be used as the initial treatment of constipated patients with a paradoxical puborectalis contraction.

Reference values of motor unit action potentials obtained with multi-MUAP analysis.

We collected reference values of motor unit action potentials (MUAPs) from healthy deltoid, brachial biceps, first dorsal interosseous, lateral vastus, and anterior tibial muscles in 105 subjects between 15 and 86 years. The MUAPs were recorded with a concentric needle electrode and extracted with a decomposition method we call multi-MUAP analysis. The main goal is to identify and extract MUAPs. Also, the firing pattern of the motor units can be followed. No significant changes with age were found for duration, spike duration, thickness, amplitude, area, size index, or number of phases in all muscles studied. We did not find any influence of gender or height. We found higher amplitudes and shorter durations compared with previous studies. This may be due to a higher contraction level that can be used with a decomposition technique. No right-left side differences were found. The coefficient of variation of the parameters in repeated examinations was small, which implies a good reliability of the measurements. Interexaminer variability of four investigators was not greater than in repeated studies.

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

Twenty-one members of a Swedish family suffering from myopathy and cardiomyopathy underwent neurological and cardiological investigations. Medical charts of 2 affected deceased patients were reviewed. Twelve patients had myopathy. The distribution of weakness was axial in mildly affected, axial and predominantly distal in moderately affected, and generalized in severely affected patients. The electromyogram showed signs of myopathy in 10 patients. Muscle biopsy specimens showed myopathic changes, rimmed vacuoles, and accumulation of desmin, dystrophin, and other proteins. Electron microscopy revealed granulofilamentous changes and disorganization of myofibrils. Several patients had episodes of chest pain or palpitations. Three men had arrhythmogenic right ventribular cardiomyopathy. Nonsustained ventribular tachycardia, atrial flutter, and dilatation of the ventricles mainly affecting the right ventricle were documented. Two of them had a pacemaker implanted because of atrioventricular block and sick sinus syndrome. Inheritance is autosomal dominant with variable onset and severity of skeletal muscle and cardiac involvement. Linkage analysis of candidate chromosomal regions showed a maximum 2-point LOD score of 2.76 for marker locus D10S1752 on chromosome 10q. A multipoint peak LOD score of 3.06 between markers D10S605 and D10S215 suggests linkage to chromosome 10q22.3, and this region may harbor a genetic defect for myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopahty.

Bilateral spastic cerebral palsy--a collaborative study between southwest Germany and western Sweden. III: Aetiology.

In this third report from the collaborative study of children with bilateral spastic cerebral palsy born between 1975 and 1986, aetiology was analysed. Evidence for a prenatal aetiology increased with gestational age, whereas evidence for a peri-/neonatal aetiology decreased. The largest subgroup, the leg-dominated subtype, showed the same distribution of aetiology as the total group. A prenatal aetiology was found mainly among term and moderately preterm children with a four-limb-dominated subtype; a peri-/neonatal aetiology among very preterm children with a three- or four-limb-dominated subtype or among term children with a dyskinetic-spastic subtype. The findings support the hypothesis generated from the authors' epidemiological results of a peri-/neonatal aetiology being predominant among preterm, and a prenatal aetiology among term, children with bilateral spastic cerebral palsy.

[Moyamoya disease. A rare case of stroke in children?]. / Sykdommen moyamoya. En sjelden årsak til hjerneslag hos barn?

Moyamoya disease is a rare cerebrovascular disease with a wide variety of clinical outcomes. The main signs of the disease are progressive occlusion of the main intracerebral arteries and development of a special network of collateral vessels, Symptomatology can be intermittent, with light neurologic symptoms, or the disease can progress step-wise, with eventual physical and mental deterioration. Several operative methods have been evolved to improve cerebral bloodflow in this disease. We describe three children with Moyamoya disease. Two of them were the first patients offered operation for their disease in Norway. The article describes diagnostic measures, possible pathogenic mechanisms, and treatment.

Bilateral spastic cerebral palsy--a comparative study between southwest Germany and western Sweden. II: Epidemiology.

Epidemiological data of a collaborative study on children with bilateral spastic cerebral palsy (BSCP) between south-west Germany and western Sweden are reported. The study period covered the birth years 1975 to 1986. Overall, the rate of BSCP increased during the birth year periods 1975-77 and 1978-80, but decreased thereafter. The rise was due to an increase of BSCP in low-birthweight (LBW) children, especially very LBW (VLBW) children. Mortality rates in LBW, and particularly VLBW, children decreased significantly during the whole study period in both countries. The BSCP rate, after the initial increase, showed a decrease during the second half of the study period in LBW children. Results are interpreted in favour of a predominantly prenatal aetiology in normal-birthweight and of a predominantly peri- and neonatal aetiology in LBW children.

Bilateral spastic cerebral palsy--a comparative study between south-west Germany and western Sweden. I: Clinical patterns and disabilities.

The results of a collaborative study of bilateral spastic cerebral palsy (BSCP) between south-west Germany and western Sweden are reported, comprising 249 children in south-west Germany and 264 children in western Sweden. A severe gross motor disability was present in 65 per cent of the German and 62 per cent of the Swedish children; learning difficulties or mental retardation in 73 and 76 per cent; active epilepsy in 28 and 26 per cent; and severe visual disability in 20 and 19 per cent, respectively. Severe disabilities were especially pronounced in children with normal birthweights, in whom the most severe subtypes of BSCP were also found. Leg-dominated BSCP was the predominant subtype among low-birthweight children, but also occurred in more than half of the normal-birthweight children. The authors conclude that the two series were comparable, and that reliable results between countries can be obtained if clear-cut classifications and definitions are used.