Restrictions in social participation of young adults with spina bifida.

PURPOSE: To determine participation restrictions of young adults with spina bifida (SB) in relation to health condition and activity limitations. METHOD: A total of 179 persons aged 16-25 years and born with SB participated in a cross-sectional study. The main outcome on four domains of participation (independent living, employment, education and partner relationships) was assessed using a structured questionnaire. RESULTS: At the mean age of 21 years only 16% were living independently, more than one-third of the participants went to special secondary education, 53% of those who finished education did not have a regular job and 71% did not have a partner. Health condition variables (type of SB, hydrocephalus and level of lesion) and to a lesser extent activity limitations (wheelchair dependence and incontinence) were significant determinants for having participation restrictions. Perceived hindrances in participation included long-distance transportation (19-36%), accessibility (10-42%), physical impairments (22-40%), emotional barriers (20-32%) and financial limits (3-17%). More severe SB, defined as hydrocephalus, high level of lesion and wheelchair dependence, was related with more experienced hindrances due to long-distance transportation accessibility of buildings. CONCLUSIONS: Many young adults with spina bifida experience participation restrictions. Severity of SB was negatively related to participation. Social integration should be a major focus in the professional guidance of youngsters with physical disabilities.

Epilepsy surgery in tuberous sclerosis: the Dutch experience.

INTRODUCTION: Epilepsy associated with tuberous sclerosis complex (TSC) is drug resistant in more than half of the patients. Epilepsy surgery may be an alternative treatment option, if the epileptogenic tuber can be identified reliably and if seizure reduction is not at the expense of cognitive or other functions. We report the pre-surgical identification of the epileptogenic tuber and post-surgical outcome of patients with TSC in The Netherlands. METHODS: Twenty-five patients underwent the pre-surgical evaluation of the Dutch Comprehensive Epilepsy Surgery Programme, including a detailed seizure history, interictal and ictal video EEG registrations, 3D FLAIR MRI scans and neuropsychological testing. Suitability of the candidates was decided in consensus. Seizure outcome, scored with the Engel classification, and cognition were reassessed at fixed post-surgery intervals. RESULTS: Epilepsy surgery was performed in six patients. At follow-up, four patients had Engel classification 1, two had classification 4. Improved development and behaviour was perceived by the parents of two patients. Epilepsy surgery was not performed in 19 patients because seizures were not captured, ictal onset zones could not be localised or were multiple, interictal EEG, video EEG and MEG results were not concordant, or seizure burden had diminished during decision making. A higher cognition index was found in the surgical patients compared to the non-surgical candidates. CONCLUSIONS: Epilepsy surgery can be performed safely and successfully in patients in whom semiology, interictal EEG, ictal EEG, MEG and the location of tubers are concordant. In other cases the risk of surgery should be weighed against the chance of seizure relief and in case of children subsequent impact on neurodevelopment.

Three to four years after diagnosis: cognition and behaviour in children with 'epilepsy only'. A prospective, controlled study.

A 3.5-year follow-up study of cognition and behaviour in 42 children with newly diagnosed idiopathic or cryptogenic epilepsy ('epilepsy only') attending mainstream education and 30 healthy gender-matched classmate controls was carried out to identify differences between groups, to detect factors that contribute to the difference and its change over time, and to establish the proportion of poorly performing children. The neuropsychological battery covered the major domains of cognition, mental and motor speed and academic language skills. Children were tested at the time of diagnosis (before any anti-epileptic drug treatment started) and 3, 12 and approximately 42 months later. Parents and teachers completed behaviour checklists, for which the scoring was adapted to prevent any influence of epilepsy-related ambiguity. Based on parental interviews at the time of diagnosis, children with epilepsy were categorized as having longstanding behavioural and/or learning problems, as belonging to a troubled family, as being exposed to 'off-balance' parenting starting at the time of epilepsy onset and/or as reacting maladaptively to the changes in relation to the onset of epilepsy. Throughout follow-up, the group of children with epilepsy only performed less well than healthy classmates on measures of learning, memory span for words, attention and behaviour. After controlling for school delay, proactive interference (number of responses to the same images as in the learning trials, but now presented in reordered locations) was the only remaining variable that distinguished the group of children with epilepsy only. Group-wise, no changes in cognitive and behavioural differences over time were found, but instability in individual performances appeared to characterize children with epilepsy only. Rather than intrinsically epilepsy-related variables, such as idiopathic versus cryptogenic aetiology, seizure control or anti-epileptic drug treatment, the child's prediagnostic learning and behavioural histories and the parents' ability to continue their habitual parenting in the face of the diagnosis of epilepsy only were shown by both group-wise and case-by-case analyses to be important for understanding the cognitive and behavioural functioning of the children with epilepsy only.

Epilepsy surgery does not harm motor performance of children and adolescents.

The impact of epilepsy surgery on motor performance, activities of daily life (ADL) and caregiver assistance was assessed in 37 children (age range 0.1-15.4 years) with pharmacologically untreatable epilepsy, 17 of whom were also diagnosed as having spasticity of cerebral origin. All patients underwent epilepsy surgery between 1996 and 2001 at the Wilhelmina University Children's Hospital and were assessed using a standard protocol at fixed intervals: before surgery and 6 months, 1 year and 2 years after surgery. The type of surgery was hemispherectomy (n = 14) and temporal (n = 14), frontal (n = 4), parietal (n = 2) and central (n = 2) resection. One child underwent callosotomy. Engel's classification was used to determine seizure outcome. Impairments were measured in terms of muscle strength, range of motion and muscle tone. Motor performance of infants and children without spasticity was measured using the Movement Assessment Battery for Children (M-ABC). The Gross Motor Function Measure (GMFM-88) was used in children with spasticity, the severity of motor disability in this group being determined by means of the Gross Motor Function Classification System (GMFCS). Daily activities and caregiver's assistance were measured in all children using the Pediatric Evaluation of Disability Inventory (PEDI). Twenty-four months after surgery 74% of the children could be classified as Engel class 1, indicating a significant seizure reduction. Impairments revealed some decrease in muscle strength and range of motion in the group with spasticity. Scores improved statistically significantly at group level on M-ABC and GMFM (P < 0.05). Improvement in activities of daily life and caregiver's assistance could not be measured in children without spasticity because of the ceiling effect of the PEDI, but children with spasticity improved significantly with respect to these parameters (PEDI) (P < 0.05). Hence, epilepsy surgery does not harm motor performance in children with or without spasticity.

Functional consequences of hemispherectomy.

Using the International Classification of Functioning Disability and Health (ICF) (WHO, 2001), impairments, activities and social participation are reported in 12 children (mean age at surgery 5.9 years) who were investigated before and three times over a 2-year period after hemispherectomy. Impairments were assessed (i) in terms of seizure frequency (Engel classification) and seizure severity (HASS) and (ii) with respect to muscle strength (MRC), range of motion (JAM score) and muscle tone (modified Ashworth scale). Activities were assessed in terms of gross motor functioning (GMFM) and self-care, mobility and social function (PEDI). Participation was assessed in terms of epilepsy-related restrictions and quantified by means of the Hague Restrictions in Childhood Epilepsy Scale (HARCES). Nine out of 12 children could be classified as free of seizures (Engel class I), and in the remaining three seizure frequency was Engel class III. HASS scores showed maximum improvement in 10 out of 12 children and near-maximum improvement in the two remaining children. Muscle strength and muscle tone on the side of the body contralateral to the hemispherectomy, which were already decreased preoperatively, decreased even further in the first 6 months after surgery, but returned to the presurgical baseline thereafter, except for the distal part of the arm. Range of motion was abnormal prior to operation and remained so after operation. Mean GMFM increase was 20% after 2 years (95% confidence interval 10-33); all five dimensions improved statistically significantly (P < 0.05). Mean PEDI increase was more than 20 scale points (95% confidence interval 10-35); again, all domains improved significantly (P < 0.05). In nearly all children, HARCES scores had normalized 2 years after surgery. In conclusion, decrease of seizure frequency and severity widens the scope of motor and social functioning, which overrides the effects of remaining motor impairments.

Early cognitive and motor symptoms in identified carriers of the gene for Huntington disease.

OBJECTIVE: To study early motor and cognitive symptoms in Huntington disease. DESIGN: A follow-up cohort study after a DNA test procedure in which gene carriers and noncarriers were identified among people genetically at risk for Huntington disease. SETTING: Leiden University Medical Center, Department of Neurology, Leiden, the Netherlands, in cooperation with the Clinical Genetics Center Leiden and the Department of Medical Psychology and Psychotherapy, Erasmus University Rotterdam, Rotterdam, the Netherlands. PARTICIPANTS: Thirty-three individuals: 9 unaffected gene carriers, 6 gene carriers with motor symptoms, and 18 noncarriers of the gene for Huntington disease. MAIN OUTCOME MEASURES: A neuropsychologic examination covering a broad area of cognitive functioning, reaction time procedures, and motor tasks. RESULTS: The neuropsychologic assessment showed no significant differences between presymptomatic gene carriers and noncarriers. Three motor tasks differentiated between these 2 groups on a liberal .05 P level (analysis of variance followed by the Student test). The affected gene carriers performed less well than the presymptomatic gene carriers and the noncarriers in 10 motor tasks and 7 cognitive tasks. These differences were significant at P < .05. CONCLUSION: Motor symptoms play a more prominent and unequivocal role than cognitive symptoms in early stages of Huntington disease.

Cognitive disorders in patients with occlusive disease of the carotid artery: a systematic review of the literature.

We present a systematic review of the literature on the prevalence, nature, severity, course, and causes of cognitive deficits in patients with occlusive disease of the carotid artery prior to surgery (if surgery was under discussion). Searches were carried out on Medline and Psychlit from 1980 to 1999 using neurovascular and psychological index terms, and papers and books were checked for further references. Studies describing neuropsychological assessment of groups of patients with carotid obstruction were included. Eighteen studies were found. We extracted from the papers data on study design, demographic characteristics of patients, clinical diagnosis, carotid obstruction, cerebral imaging, time interval between ischemic episode and neuropsychological assessment, neuropsychological assessment procedures, integration and interpretation of test performances, and conclusions of authors. Fourteen studies concluded that there are cognitive deficits both in patients with symptomatic and in those with asymptomatic carotid obstruction; four studies denied cognitive impairment. There were no differences in patient characteristics, study design, or neuropsychological assessment procedures between the 14 studies that found deficits and the 4 that did not. There are indications for a mild, diffuse detrimental effect of carotid occlusive disease on cognitive functioning. However, methodological problems prevent a definitive conclusion. Further research is needed to confirm these findings and to ascertain the neurovascular risk factors for and the natural course of cognitive impairment in patients with carotid occlusive disease.

A clinical trial with desglycinamide arginine vasopressin for the treatment of memory disorders in man.

In a double-blind cross-over trial the memory effect of the neuropeptide desglycinamide arginine vasopressin (DGAVP) was selected because of its well-documented facilitatory effects on memory components in rodents. Patients with stabilized or progressive amnesic disorders (Korsakoff disease, early stages of Alzheimer dementia, head injuries and other central nervous system diseases) did not respond to the drug. Factors possibly explaining the discrepancy with animal research are discussed.

Retrieval from semantic memory may be normal in multiple sclerosis patients: a study of free word association.

Increased effort of retrieval from memory is considered to be a feature of cognition in subcortical neurological diseases, such as multiple sclerosis (MS). Free word association provides a means to investigate alterations in automatic and effortful retrieval. Using this procedure we investigated whether in MS free word association would shift from commonality towards idiosyncrasy, as a result of effortful, controlled retrieval. The MS group consisted of a cohort of outpatients, who suffered from chronic but quiescent MS. The patients responded with perfectly normal association patterns. Apparently, impairment of retrieval, or more specifically increased effort of retrieval, from memory does not hold true generally in MS. In patients with obvious physical handicaps (mean Kurtzke DSS = 4 +/- 2) we could not demonstrate abnormal associative processes.

Reaction time in ambulant multiple sclerosis patients. Part I. Influence of prolonged cognitive effort.

Reaction times (RT) were measured in 39 multiple sclerosis (MS) patients and 25 healthy controls, before and after comprehensive neuropsychological assessment lasting at least 4 h. The assessment required prolonged mental effort, which was assumed to induce fatigue. Simple and disjunctive RT were measured for visual and auditory stimuli. RT before and after prolonged effort were significantly longer in MS than in control subjects (with exception of auditory RT). This effect was related to disease duration and to simultaneous presence of brainstem, cerebellar and/or pyramidal signs. Age did not significantly contribute to the explanation of RT increase. In female patients, increasing distribution of functional lesions in the central nervous system was related with greater RT increase than in male patients. RT of MS and controls changed after prolonged mental effort and effort-related fatigue was experienced subjectively. Yet no differences in direction or degree of change in RT were found between controls and ambulant patients with stable MS who apparently had resources to overcome fatigue.

Reaction time in ambulant multiple sclerosis patients. Part II. Influence of task complexity.

Effects of task variables on reaction time (RT) were investigated in 39 multiple sclerosis (MS) patients and 25 matched control subjects, based on the premise that RT is sensitive to (subtle) changes of cognitive efficiency. The hypothesis to be tested held that inefficient cognitive processing in MS would be reflected in differences between RT patterns of MS and control subjects, and in inordinate RT increase in MS patients with increase of task complexity. No difference was found between MS patients and controls, or between MS subgroups, in (1) response to time uncertainty of stimulus presentations, (2) RT behaviour over stimulus presentations, and (3) RT change from simple to more complex conditions. No evidence of slowed cognitive processing was found in this sample of outpatients with relatively mild and stable MS. It is emphasised that executive and cognitive slowness have to be disentangled in research on MS and on so-called 'subcortical dementia', of which mental slowing is a key concept.

What is the validity of an "abnormal" evoked or event-related potential in MS? Auditory and visual evoked and event-related potentials in multiple sclerosis patients and normal subjects.

The predictive validity of evoked potentials (EPs) and event-related potentials (ERPs) in multiple sclerosis (MS) has not yet been fully investigated, as only the sensitivity of these tests has sofar been reported. EPs (short, middle and long latency auditory evoked potentials and visual evoked potentials) and ERPs (visual and auditory) were studied in 19 controls and 30 multiple sclerosis (MS) patients. Abnormality thresholds of peak latencies were defined on the basis of the mean plus 2 or 3 standard deviations, based on data from the control group. The effects of changing the latency thresholds and including the absence of peaks in the abnormality definition were assessed. In accordance with earlier reports we found a high sensitivity (up to 93% for bimodal combined EPs and 47% for combined ERPs). False positive rates of separate peaks were low and conformed to expectation. However, combining separate peak measurements increased false positive rates of EPs and ERPs to unacceptably high levels (up to 58% for combined EPs and 32% for combined ERPs). Positive likelihood ratios for bimodal EPs were low (between 1.6 and 4.0, depending on the abnormality definition). They ranged from 1.4 to 2.2 for bimodal ERPs. Abnormal combined EPs or ERPs were therefore not the reliable indicators of functional damage that they are supposed to be. Separate EPs were much more reliable in this respect. ERPs failed to distinguish between the groups, either separately or in combination. Changing the latency threshold and including absent peaks in the abnormality definition influenced the abnormality rates in both groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Are event-related potentials in multiple sclerosis indicative of cognitive impairment? Evoked and event-related potentials, psychometric testing and response speed: a controlled study.

Bimodal event-related potentials (ERPs), together with evoked potentials (EPs), measures of motor speed (tapping test, EMG latencies and reaction times (RT)), and psychometric test results were studied in a group of 30 multiple sclerosis (MS) patients and 19 controls. ERPs have been advocated as objective tests of cognitive function. In the present study ERPs were compared with the results of psychometric tests, which have a proven validity in measuring aspects of cognitive function that are important in daily life. Abnormal EMG, RT and tapping speed confirmed that motor aspects of performance were slowed in the MS group. In contrast, cognitive non-motor variables such as Raven-IQ and MQ were not significantly abnormal. The proportions of abnormal ERP N2 and P3 latencies did not differ between the groups. It is concluded that the slow performance of MS subjects is therefore most likely not due to cognitive speed decrement, but to motor, executive impairments. No significant relationships between ERP latencies and psychometric test results were found. This held even for a subgroup of 5 MS patients with psychometrically established cognitive impairments. Based on these results, we query the relevance of ERPs as subtle indicators of cognitive impairment in MS.

Memory and learning in outpatients with quiescent multiple sclerosis.

In 22 (56%) of 39 quiet-stage multiple sclerosis (MS) patients with at least average intelligence quotients, performances in memory and learning tasks were normal, as compared with those of a control group (24 healthy volunteers). Of the remaining 44% (n = 17), 2 patients were amnesic and 5 had been judged to have suffered cognitive decline. Auditory word learning was particularly vulnerable; however, acquisition rate was not significantly different between MS patients and controls.

Performances of multiple sclerosis patients in tasks requiring language and visuoconstruction. Assessment of outpatients in quiescent disease stages.

In a group of 39 multiple sclerosis (MS) patients with at least average intelligence quotients (IQ), performances were examined in tests requiring language usage and figure copying. Numbers of correct, digressive and erroneous responses were analysed and compared with those obtained in 24 healthy volunteers, matched to the patients group for socio-economic status. The examined specific tasks yielded no additional contribution to the prevalence estimation of cognitive deterioration (18%), as based on an assessment of general intelligence. Linguistic or cognitive-constructional problems were no more severe or more frequent in MS patients than those in control subjects. Upon writing or copying figures, pencil stroke and pencil pressure were deficient. Speed of reading aloud and of colour naming was decreased in the MS group, the most probable explanation being impaired control of the phonatory apparatus, oculomotor problems or weakness of colour vision. Decreases in speed of performance are not necessarily of cognitive origin. Differences between the present and previous reports based on similar tasks, appear to be connected partly with differences in patient selection. Of the present group, all MS patients were in quiescent disease stages, depression was mild or absent and physical handicap was less than in most studies reporting definite specific deficits.

Cognition in patients with multiple sclerosis After four years.

This study reports on a 4-year follow-up of cognitive functioning in 33 MS patients and 18 healthy control subjects. As a group, and in agreement with the results in the previous assessment. MS patients have significantly weaker performances than controls in motor speed, reaction time, learning tasks, reading aloud and figure copying. Tasks addressing visuospatial problem solving, behavioural flexibility, and linguistic aspects of oral and written communication do not distinguish between the two groups. Influence of impaired movement is acknowledged in performances utilising speech and reading under instructions of speed, and in figure copying. Cognition per sé remained undisturbed in 25 patients (76%). A uniform MS-related development of cognitive deficits could not be identified, improvement, stability and further deterioration being found at reassessment.

Visuospatial problem solving, conceptual reasoning and sorting behaviour in multiple sclerosis out-patients.

Visuospatial problem solving, conceptual reasoning and shifting of set were studied in out-patients with definite and probable MS. The sample of MS patients was homogeneous with respect to 2 important dimensions. All were out-patients, leading a normal although handicap-restricted social life. Furthermore, in all patients relapse or obvious instability of the disease were absent for at least a month. On Raven's Progressive Matrices, the Category test and the Wisconsin Modified Card Sorting test, no significant differences were found between the group of MS patients and a control group of healthy volunteers. However, 18% of MS patients and 4% of controls were rated as performing slightly below the expected levels of cognition. Stepwise regression analysis failed to reveal effects of illness variables, and no difference between patients with definite and probable MS could be detected. Clearly, most socially integrated MS patients in stable disease stages are capable of normal visuospatial problem solving, abstract reasoning and shifting of set.

Conventional and controlled release valproate in children with epilepsy: a cross-over study comparing plasma levels and cognitive performances.

We studied plasma levels and behavioural effects of a newly developed controlled release formulation of valproate (VPA-CR) in children with epilepsy. Valproate plasma levels and performances in attention and vigilance tasks were monitored during a 12-h period (daytime), both during monotherapy of conventional valproate (VPA) and 4 weeks after switching to a similar dosage of VPA-CR taken once daily. There was no significant difference between the two formulations with respect to mean diurnal trough and peak valproate plasma levels, and to mean fluctuation. The significantly higher Cmax/Cmin ratio during VPA-CR seems mainly due to low valproate plasma levels early in the morning. Neuropsychological assessment showed no significant differences, either between patients and controls, or within patients and controls when comparing the results obtained on the VPA and VPA-CR day. During both VPA and VPA-CR treatment, no correlation was found between cognitive performance and valproate plasma levels. The advantage of VPA-CR is that the once daily regimen may increase compliance and is more convenient for schoolchildren.

Neurological examination of patients suffering from leprosy: is it worthwhile?

We examined 28 male leprosy patients to discover if a more extensive neurological investigation than usual would be worthwhile in diagnosis and/or management. Our findings were fully compatible with what might be expected from a mononeuritis multiplex, either due to leprosy or other causes. The following observations are noteworthy. Changes of position sense and a decrease of some tendon reflexes were present in a minority of the patients. In soles of the feet, considered to be an- or hypaesthetic, some residual pain sensation could occasionally be detected. Functional testing of at least one muscle group (m. triceps surae) appeared to be more reliable than manual testing according to MRC criteria. We concluded that an extensive neurological examination is probably not required for diagnosis. It does provide, however, more accurate information on the extent of damage to the peripheral nervous system, which may be important for management and for assessment of treatment effects. The use of a myometer is advocated.

"It ain't necessarily so".

Preconceived ideas of the effects of brain damage on mental function may lead to erroneous advice, as illustrated by a case in whom severe traumatic damage of the frontal lobe necessitated a significant professional and social change, but did not result in the absolute behavioral incompetence that would have been predicted by current notions of frontal lobe function. Which mental functions are impaired is a question that cannot be answered by referral to the anatomical pathology, however precise the latter information may be.