Effectiveness of psychological interventions for people with poorly controlled epilepsy.
Explore the source record for details and available documents.
Arousal↗
Biomedical subjects
L H Goldstein
Publications and source records attributed to L H Goldstein.
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We have screened 76 unrelated FA patients of diverse ethnic and geographic origins and from unknown complementation groups for mutations in the FAC gene either by chemical cleavage mismatch analysis or by single-strand conformational polymorphism (SSCP). Five mutations were detected in four patients (5.3%), including two novel mutations (W22X and L496R). Nine polymorphisms were detected, seven of which have not been described previously (663A-->G, L190F, IVS6 + 30C-->T, I312V, V449M, Q465R, and 1974G-->A). Six of the nine polymorphisms occurred in patients or controls from the Tswana or Sotho chiefdoms of South Africa and were not found in 50 unrelated European controls. Restriction site assays were established for all 8 pathogenic mutations identified in the FAC gene to date and used to screen a total of 94 unrelated FA patients. This identified only one other group C patient, who was homozygons for the mutation IVS4 + 4A-->T. This study indicates that the proportion of FA patients from complementation group C is generally likely to be less than 10%. Guidelines for the selection of FA patients for FAC mutation screening are proposed.
Cell Cycle Proteins↗
Frontal lobe dysfunction in amyotrophic lateral sclerosis. A PET study.
PET measurements of regional cerebral blood flow (rCBF) were used to explore frontal lobe dysfunction in amyotrophic lateral sclerosis (ALS). An activation paradigm of executive frontal lobe function (verbal fluency), which contrasted rCBF during word generation and word repetition, was used. Two groups of ALS patients, defined by the presence or absence of cognitive impairment (ALSi) (impaired, n = 6: ALSu unimpaired, n = 6) were compared with healthy age-matched controls (n = 6). Patient selection was based on prior performance on a written test of verbal fluency. Additional neuropsychological assessment of the patients revealed evidence of executive and memory dysfunction in the ALSi group only, with marked deficits in tests of intrinsic generation. The ALSi patients displayed significantly (P < 0.001) impaired activation in cortical and subcortical regions including the dorsolateral prefrontal cortex (DLPFC; areas 46 and 9), lateral premotor cortex (areas 8 and 6), medial prefrontal and premotor cortices (areas 8 and 9), insular cortex bilaterally and the anterior thalamic nuclear complex. Although the three groups showed matched word generation performance on the scanning paradigm, the ALSu group displayed a relatively unimpaired pattern of activation. These results support the presence of extra-motor neuronal involvement, particularly along a thalamo-frontal association pathway, in some non-demented ALS patients. In addition, this study suggests dysfunction of DLPFC in some ALS patients with associated cognitive impairments.
Aged↗
A positron emission tomography study of frontal lobe function (verbal fluency) in amyotrophic lateral sclerosis.
Positron emission tomography (PET) was used to investigate the location of cerebral cortical and subcortical abnormalities in non-demented patients with amyotrophic lateral sclerosis (ALS). Involvement of the frontal lobes was investigated with a task of executive frontal lobe function (verbal fluency/word generation), using a PET activation paradigm. Two groups of ALS patients defined by the presence or absence of cognitive impairment were tested. ALS patients who had cognitive impairments showed a region of cortical and subcortical dysfunction which extended across a wide area of the frontal lobes, and included the insular cortex and thalamic nuclear complex. These findings support the notion that extra-motor involvement is relatively common in ALS and broadens concepts of selective vulnerability in ALS.
Amyotrophic Lateral Sclerosis↗
Cognitive deficits in non-demented amyotrophic lateral sclerosis patients: a neuropsychological investigation.
Explore the source record for details and available documents.
Adult↗
The psychological impact of motor neurone disease.
Self-report measures were completed by 59 individuals with motor neurone disease (MND) in order to assess whether: (a) MND affects patients' psychological well-being and quality of life; (b) if greater affective disorder is associated with greater physical disability; (c) whether accepting the illness and ways of coping have an impact on psychological distress, and (d) if beliefs over control of their health shift as the disease progresses. Results indicated that the effects of MND on everyday functioning accounted for incidence of depression and low self-esteem. Acceptance of illness was related to severity of symptoms and was a significant factor irrespective of level of physical symptomatology. Ways of coping with the illness did not relate in any significant way to severity of symptoms. Mild physical impairments were associated with an 'internal' view of control over health.
Activities of Daily Living↗
Coloured speech perception: is synaesthesia what happens when modularity breaks down?
Evidence was reported earlier from a single case that chromatic-lexical (CL) synaesthesia was a genuine phenomenon. A study is presented in which nine subjects were tested who also reported having coloured hearing. The following questions were addressed: (a) were these cases also genuine (ie consistent over time), (b) were they truly lexical, or rather variants of this condition, such as chromatic-graphemic (CG) or chromatic-phonemic (CP) synaesthesia, (c) did the experimental subjects show any commonalities between them, and (d) were they able to give information on a standard questionnaire about the phenomenology and ontogenesis of the condition? Subjects were asked to describe the colour sensation experienced on hearing items from a list of 130 words, phrases, and letters. The experimental group were not informed of any retest, but were retested more than one year later. A control group (n = 9), matched for IQ, memory, age, and gender, were read the same list and asked to associate a colour with each list item. They were informed at the time of testing that they would be retested on a sample of items from the list a week later. 92.3% of the responses of the experimental group when retested one year later were identical to those given in the original test, compared with only 37.6% of the control subjects' responses (retested one week later). This confirmed the genuinneess of these nine cases. All nine experimental subjects showed CG synaesthesia, none showing either CL or CP synaesthesia. Among the experimental group, some consistency was found in the colours evoked by hearing specific letters, suggesting the condition has a neurological basis.(ABSTRACT TRUNCATED AT 250 WORDS)
Acoustic Stimulation↗
Cortical function in amyotrophic lateral sclerosis. A positron emission tomography study.
Positron emission tomography was used to measure regional cerebral blood flow (rCBF) in 12 patients with amyotrophic lateral sclerosis (ALS) and six age-matched controls. Scans were performed at rest, and while subjects performed stereotyped and freely selected movements of a joystick with their right hand. Statistical parametric mapping was used to determine significant differences in rCBF between the two groups at rest and during activation. The ALS group showed no significant difference in global cerebral blood flow at rest compared with controls. However, rCBF at rest was significantly (P < 0.01) reduced in the ALS group in the primary sensorimotor cortex, the lateral premotor cortex, the supplementary motor area, the anterior cingulate cortex, the paracentral lobule and the superior and inferior parietal cortex. Comparison of the increase in rCBF caused by freely selected joystick movements over the resting state between the two groups of subjects showed significantly (P < 0.001) greater activation in ALS patients in the ventral third (face area) of the contralateral primary sensorimotor cortex and in the adjacent contralateral ventral premotor and parietal association cortices; significantly (P < 0.01) greater activation of the contralateral anterior insula and the ipsilateral anterior cingulate cortex (dorso-caudal area 24) was also present in ALS patients. When a comparison of the rCBF response to the free selection task with that to the stereotyped task was performed between the two groups of subjects, ALS patients showed significantly impaired (P < 0.01) activation of the rostral anterior cingulate cortex (area 32), medial prefrontal cortex (area 10), left parahippocampal gyrus and retrosplenial cortex. The pattern of reduced rCBF at rest in ALS patients probably reflects a combination of neuronal loss in all areas of cortex projecting through the pyramidal tract together with loss of projections from the sensorimotor cortex to the motor association areas. The expansion of the upper limb output zone of the sensorimotor cortex in ALS patients during contralateral upper limb movement may represent cortical reorganization in response to Betz cell loss or corticospinal tract disruption. Abnormal recruitment of non-primary motor areas may also represent functional adaptation to a corticospinal tract lesion. Focally impaired activation of the medial prefrontal cortex and parahippocampal gyrus in ALS patients during the process of internal generation of movement could underlie the frontal lobe cognitive deficits reported in previous neuropsychological studies of ALS.
Adult↗
The relationship between abnormalities of cognitive function and cerebral activation in amyotrophic lateral sclerosis. A neuropsychological and positron emission tomography study.
Neuropsychological assessment of 16 clinically non-demented patients with amyotrophic lateral sclerosis (ALS) and 16 age-matched controls revealed significantly (P < 0.05) impaired verbal fluency and picture recall in the ALS patients. On the basis of their verbal fluency scores, two subgroups of the ALS patients (five high, five low scores) and a different group of five age-matched controls then underwent positron emission tomographic (PET) measurement of regional cerebral blood flow (rCBF). Scans were performed in the resting state and while subjects performed stereotyped or freely selected movements of a joystick with their right hand. The pattern of cerebral activation associated with self-generated activity was determined by comparing the profile of rCBF during freely selected and stereotyped joystick movements. Statistical parametric mapping was used to determine significant differences in rCBF between the groups at rest and during activation. Regional cerebral blood flow at rest was significantly (P < 0.01) reduced in the anterior cingulate cortex of both ALS subgroups in comparison with controls. The profile of cortical and subcortical activation during performance of freely selected joystick movements relative to stereotyped movements was abnormal in ALS patients: (i) ALS patients with a normal fluency score showed significantly (P < 0.01) attenuated rCBF responses in comparison with controls in the left medial prefrontal cortex (Brodmann area 10) and the right and left parahippocampal gyri; (ii) ALS patients with impaired verbal fluency showed significantly (P < 0.01) attenuated rCBF responses in comparison with controls in the right and left medial prefrontal cortex (areas 9 and 10), the rostral aspects of the right anterior cingulate cortex (areas 24 and 32), the right parahippocampal gyrus and the anterior thalamic nuclear complex; (iii) ALS patients with impaired verbal fluency showed significantly (P < 0.01) attenuated rCBF responses in comparison with patients with normal verbal fluency in the right parahippocampal gyrus, the anterior thalamic nuclear complex and the rostral anterior cingulate cortex (area 24). Regional cerebral blood flow at rest in the right parahippocampal gyrus of ALS patients was significantly correlated with verbal fluency score (P = 0.01) and picture recall score (P = 0.01). Activation of the anterior thalamic nuclear complex in ALS patients was also significantly correlated with verbal fluency score (P = 0.001) and picture recall score (P = 0.01). The results show that abnormalities of function are present in regions along a limbo-thalamo-cortical pathway in some ALS patients during performance of a self-generated motor task.(ABSTRACT TRUNCATED AT 400 WORDS)
Adult↗
Short-term cognitive changes after unilateral temporal lobectomy or unilateral amygdalo-hippocampectomy for the relief of temporal lobe epilepsy.
Forty two patients who had unilateral temporal lobe surgery (either temporal lobectomy or amygdalo-hippocampectomy) were evaluated using a selection of cognitive tests before and soon after surgery, to examine whether the amygdalo-hippocampectomy produces less cognitive impairment than the standard en bloc resection. On specific indices of cognitive functioning an amygdalo-hippocampectomy rather than a temporal lobectomy, undertaken on the temporal lobe thought to mediate that particular function, produced less impairment, in terms of change in cognitive function resulting from the operation. An amygdalo-hippocampectomy carried out on the temporal lobe not thought to mediate such skills, however, resulted in less improvement or more deterioration in these functions than a temporal lobectomy, except in the case of delayed prose recall, where a right amygdalo-hippocampectomy led to more improvement than a right temporal lobectomy. Overall there were few scores which distinguished between the different surgical procedures for cognitive outcome.
Adult↗
Unilateral frontal lobectomy can produce strategy application disorder.
Following a 5 cm left frontal lobectomy for the removal of a mixed astrocytoma-oligodendroglioma, a 51 year old right handed man showed a marked dissociation between his performance on standard neuropsychological tests and his everyday behaviour. In contrast to his intact neuropsychological test performance, he was impaired on a test of "strategy application" which requires goal articulation, plan specification, self-monitoring, and evaluation of outcomes, as well as the establishment of mental "markers" to trigger specific behaviour. Strategy application disorder can therefore be produced by a unilateral circumscribed frontal lobe lesions.
Anger↗
Thalamo-frontal psychosis.
A 43-year-old man presented with an 18-month history of acute-onset cyclical behavioural change affecting mood, appetite, sleep, and energy levels. This had followed an initial episode of transient drowsiness which lasted 24 hours. On examination, there was some evidence of visual memory and frontal lobe deficits. A brain CT scan showed bilateral thalamic infarcts and a brain SPECT scan showed bilateral hypoperfusion of the frontal lobes. To our knowledge, this is the first reported case of thalamic infarction associated with acute-onset cyclical affective psychosis with clinical and neurophysiological features of frontal lobe syndrome. The case also highlights the possible role of thalamo-frontal circuits in the pathogenesis of the Kleine-Levin syndrome.
Adult↗
Everyday memory after unilateral temporal lobectomy or amygdalo-hippocampectomy.
Patients who had undergone unilateral temporal lobe surgery (right or left temporal lobectomy or amygdalo-hippocampectomy) for intractable temporal lobe epilepsy, and normal control subjects, completed two questionnaires about everyday memory, the Subjective Memory Questionnaire (SMQ) and the Everyday Memory Questionnaire (EMQ). Relatives/close friends completed suitably adapted versions of these questionnaires about the patient. Patients who had undergone right and left temporal lobectomy rated themselves, and were rated by relatives/friends as having worse memories than controls on both the SMQ and EMQ. Individual items on both questionnaires differentiated between the memory abilities of the five groups. Age at surgery was correlated with one measure of everyday memory for the right temporal lobectomy group, and seizure frequency was correlated with memory performance for the amygdalo-hippocampectomy groups. Issues concerning validity and accuracy of rating memory lapses are discussed.
Adult↗
The Mental Impairment and Evaluation Treatment Service: staff attitudes and staff-client interactions.
This study describes and evaluates a new short-term residential service for adults with mild learning difficulties and challenging behaviour, the Mental Impairment Evaluation and Treatment Service. The study examines staff attitudes towards management practices, towards the potential achievement of individuals with learning difficulties, the staff's perceived involvement in decision making, and also the nature of their interaction with the clients, in two different settings on the Unit. The Unit's management practices were found to be client-orientated in nature and staff were more in agreement with client-orientated than institution-orientated management practices. Staff were generally optimistic about clients' potential and felt involved in decision making. Correlations between certain staff characteristics, attitudes and interactions are discussed. The study extends the range of services that have been evaluated in this way, and provides a description of the service in its early stages, which will provide an important comparison point for it when it is more permanently established.
Adult↗
Familial calcification of the basal ganglia: a case report and review of the literature.
Although calcification of the basal ganglia is a relatively common and asymptomatic finding on cranial computed tomography, familial idiopathic calcification of the basal ganglia (ICBG) is a rare disorder with neurological and behavioral manifestations. Attention has recently been drawn to the frequency with which cases are diagnosed as schizophrenic (Cummings et al. 1983; Lowenthal, 1986; Davison, 1987). We report a family in which a mother and son have ICBG, but while the son has a paranoid schizophrenia and intellectual deterioration, the mother shows no psychiatric illness. A review of the relevant literature suggests that psychosis is not as common as usually supposed, and may only be coincidentally associated with familial ICBG. Moreover, we find little convincing evidence that familial ICBG is an independent entity; instead, and in agreement with earlier authorities (Bruyn et al. 1964), we argue that published accounts and our own cases provide evidence that the condition is related to pseudo-hypoparathyroidism (PHP) and, therefore, may be due to a defect in a guanine nucleotide binding protein.
Adult↗
Behavioural memory after temporal lobectomy or amygdalo-hippocampectomy.
A total of 46 patients who had undergone surgery for the relief of temporal lobe epilepsy were tested on the Rivermead Behavioural Memory Test (RBMT) and two traditional tests of memory. The patient and a relative or close friend were also asked to complete a questionnaire about the everyday memory problems experienced by the patients. Scores on the RBMT failed to distinguish between patients who had undergone either a traditional en bloc temporal lobectomy or a more restricted resection, the amygdalo-hippocampectomy, although scores on one of the traditional memory tests did. Epilepsy-related variables did not alter the outcome of data analyses. Only relatives' questionnaire ratings of patients' memory correlated with patients' scores on the RBMT.
Adult↗
The effect of anticonvulsants on cognitive functioning following a probable encephalitic illness.
A 54-year-old man developed an acute encephalitic illness and subsequently suffered from marked memory difficulties. Considerable improvement with anticonvulsant therapy was demonstrated using a ward-based observation programme and serial neuropsychological assessments. The case report highlights the prominent role played by epileptic activity in determining the severity of the patient's amnesia.
Carbamazepine↗
Neuropsychological investigation of temporal lobe epilepsy.
Explore the source record for details and available documents.
Cognition Disorders↗