Chronic illnesses are associated with multiple stressors that compromise quality of life (QOL). Implicit in many of these stressors is the concept of illness intrusiveness: the disruption of lifestyles, activities, and interests due to the constraints imposed by chronic disease and its treatment. The purpose of this study was to examine illness intrusiveness and QOL in epilepsy in patients with different levels of seizure control.

Cross-sectional data were obtained and compared between two groups of patients categorized by presence of seizures: seizure freedom or continued seizures (N=145). Standard instruments measured the following variables: illness intrusiveness, perceived personal control, subjective well-being, and disease specific QOL.

Illness intrusiveness varied inversely and significantly with seizure control. Complete seizure freedom, whether achieved by pharmacological or surgical treatment, was associated with the lowest levels of illness intrusiveness. Seizure freedom was also associated with increased perceived control, positive affect, self-esteem and QOL in epilepsy.

The most robust benefits of decreased illness intrusiveness in epilepsy occur when treatment leads to complete seizure control. Therefore every effort should be made by health care providers to achieve seizure freedom to reduce illness intrusiveness and improve QOL in epilepsy.

This prospective, case control study evaluates quality of life (QOL), depressive affect, and memory outcomes of epilepsy patients implanted with a vagus nerve stimulator (VNS).

Three groups of patients with epilepsy underwent assessment on two occasions: 1) patients with a VNS were tested before and 12 months after implantation (n = 16); 2) patients who underwent cerebral resective surgery were tested pre- and post-operatively (n = 10); and 3) patients under medical management (n = 9). Group means were compared on the QOLIE-89, Geriatric Depression Scale, Wechsler Memory Scale - III, and the Memory Observation Questionnaire. Secondary analyses calculated the reliable change index, providing information on change beyond measurement error and chance.

Mean ratings of QOL, depression, and memory complaints and objective memory scores remained stable or improved in all the groups. The QOL improved more after cerebral resective surgery than VNS or medication controls, but the VNS and medication control groups did not differ. In the VNS group, QOL was not related to seizure reduction. The percentage of cases showing real change in memory was equivalent across groups, except in one of eight indices (i.e., verbal recognition memory).

This first case controlled design found that vagus nerve stimulation as an adjunctive therapy for seizure control did not change QOL, depressive affect, or objective memory scores over one-year more so than medical management alone. We point out the need for larger case control, non-industry funded investigations.

Absence epilepsy is the most common primary generalized epilepsy syndrome encountered in pediatric practice. Treatment is pharmacologically specific and usually successful with a single medication. The objective of this study was to identify any clinical or electroencephalographic features at initial presentation in a consecutive cohort of children with absence epilepsy that may be associated with the need for a second medication.

A computerized pediatric neurology database (1991-2007 inclusive) was retrospectively searched for all patients with typical absence seizures, 3 Hz spike and wave on EEG and no apparent symptomatic etiology who were over the age of two years at seizure onset with at least one year of follow-up. All such children were then divided into two groups; a) those requiring a single medication for seizure control (Group 1), and b) those requiring two medications for seizure control despite optimal management with the initial medication as determined by serum drug monitoring (Group 2). Clinical and electrographic features evident at diagnosis were then contrasted between Group 1 and 2.

Seventy-five children with absence seizures were initially identified with 52 meeting the study’s inclusion and none of the exclusion criteria. Of these 52 children, 43 required a single medication for seizure control (Group 1), while 9 required two or more medications for seizure control (Group 2). A significant difference (p<0.05) was apparent between Group 1 and 2 with respect to gender (16/43 males vs 8/9 males) and mean age of diagnosis (8.19 years +/− 3.00 vs 6.06 years +/− 2.22). Age of onset of seizures, interval duration of seizures prior to treatment initiation, duration of seizures, presence of automatisms, family history, presence of co-morbid conditions and EEG findings were not found to be significantly different between the two Groups.

Male gender and an earlier age of diagnosis is associated with the need for two medications for seizure control in children with absence epilepsy. This observation may suggest the need for more intensive early programmatic follow-up for young male children with newly diagnosed absence epilepsy to effect more rapid attainment of seizure control.

To review the clinical and neuroimaging features of a large series of patients with Sturge-Weber syndrome (SWS) seen over a 40-year period.

Fifty-five patients with SWS (30 males and 25 females), were studied between 1965 and 2004. Results of neurological and ophthalmological examinations, electroencephalographic, and neuroimaging studies were reviewed. All patients were seen by one of the authors (I. P-C).

Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. The facial nevus flammeus was unilateral in 35 (63.5%) patients, bilateral in 17 (31%) and absent in 3 (5.5%) of the patients with leptomeningeal angiomas. Seven (41%) of the 17 patients with bilateral nevus flammeus had unilateral leptomeningeal angiomas. Seizures occurred in 47 patients (85.5%). Complete seizure control was obtained in 20 patients (42.5%), but in 2 of these 20 patients seizures were controlled only after lobectomy. All patients with unilateral or bilateral upper eyelid nevus flammeus had ipsilateral, unilateral or bilateral choroid-retinal angiomas. Only 20 (36%) of the 55 patients had low-normal or borderline intelligence (IQs<70). No relationship was observed between the size of the facial nevus flammeus and the severity of the brain lesion.

Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. Cerebral lesions followed a progressive course during early childhood, but not later. Early surgical treatment controlled the seizures but other neurological problems such as hemiparesis and intellectual deficits showed a less satisfactory response. Early onset of seizures and poor response to medical treatment, bilateral cerebral involvement and unilateral severe lesions were indicative of a poor prognosis. Limited intelligence and social skills, poor aesthetic appearance and seizures complicated the integration of SWS patients. These features must be addressed in order for the patients improve social interactions, obtain gainful employment and achieve a better quality of life.

As governments struggle with increasing demand for accountability within the Canadian Health Care System and set wait-time standards, it is important to objectify data to allow a true understanding of present limitations and to facilitate comparisons to other systems. The purpose of this study was to compare wait list times for a cohort of patients requiring spinal surgery in Calgary, Alberta to a similar cohort in Sydney, Australia.

From January 1 until June 30, 2006 all outpatients admitted for spinal surgery to the Foothills Hospital were identified by the surgeons’ office. Two time periods were quantified from their charts: (1) time from referral to surgical consultation; and (2) time from surgical consultation to operative intervention. From July 1 until December 31, 2006 patients were similarly identified through Neurosurgical offices at the Prince of Wales Public and Private Hospitals in Sydney, Australia.

Four hundred ninety-one surgical patients were captured during the six month period in Calgary and 155 patients during the subsequent six months in Sydney. The majority of patients in Sydney were treated in the Private Health Care system. Public patients in Sydney have access to a surgical consultant twice as fast as public patients in Calgary while private patients have access ten times faster. Access to operating room time within the public system is a rate limiting step in both countries. However, Sydney private patients receive their surgery four times faster than Calgary patients.

Compared to Calgary, access to specialized spine care in Sydney appears more efficient not only in the Private but also the Public Health Care System. Part of this efficiency may arise from offloading from the public into the private system. Solutions proposed to reduce wait list times should consider benefits of a Private Health Care System.

To determine whether clinical data obtained by history and physical examination can predict eventual progression to dementia in a cohort of elderly people with mild cognitive impairment.

A prospective, longitudinal study of a cohort of elderly subjects with amnestic Mild Cognitive Impairment (MCI). Ninety subjects meeting the criteria for amnestic MCI were recruited and followed annually for an average of 3.3 years. Main outcome measure was the development of dementia determined by clinical assessment with confirmatory neuropsychological evaluation.

Fifty patients (56%) developed dementia on follow-up. They were older, had lower Mini-mental status exam (MMSE) scores and a shorter duration of symptoms at the time of first assessment. Multivariate logistic regression analysis identified age at symptom onset as the only clinical parameter which distinguished the group that deteriorated to dementia from the group that did not. The odds ratio for age was 1.1 (confidence interval 1.04 - 1.18).

Patients presenting with amnestic MCI insufficient for the diagnosis of dementia are at high risk of developing dementia on follow-up. In our cohort, 56% were diagnosed with dementia over an average period of 5.9 years from symptom onset. The only clinical predictor for the eventual development of dementia was older age at symptom onset. Clinical features alone were insufficient to predict development of dementia.

Objective clinical evaluation of memory frequently requires serial testing but the issue of whether multiformed tests are equivalent and can be used interchangeably is seldom examined. An added problem in bilingual Canadian settings is the extent to which it is appropriate to measure French speakers’ performance on translations of English tests. The present work used the Rey Auditory Verbal Learning Test (RAVLT) and a nonverbal analog, the Aggie Figures Learning Test (AFLT), to examine whether a) different forms of the same test are equivalent, b) performance on the two tests is comparable, c) two language groups perform similarly, and d) the RAVLT can detect dysfunction in patients with temporal lobe epilepsy (TLE).

We compared three French versions of the RAVLT and three forms of the AFLT in 114 healthy francophone adults. We subsequently compared the performance of the same francophone subjects to a previously obtained sample of anglophones on both tests, and then administered the RAVLT to anglophone or francophone patients with TLE.

For both tasks the three forms were equivalent and performance on the RAVLT was comparable to that on the AFLT. Francophone subjects performed slightly worse on the RAVLT compared to anglophones but performance of the two language groups did not differ on the AFLT. Finally, left TLE patients were impaired compared to right on the RAVLT, but no performance differences were observed across the two language groups in the patient sample.

The RAVLT and AFLT are useful tools for examination of learning and memory in French and English speaking populations. On the RAVLT, the lesion effect in patients is not affected by differences in performance between language groups.

Limb girdle muscular dystrophy type 1B is an autosomal dominant disease characterized by late onset proximal muscle involvement associated with cardiac complications such as atrioventricular conduction blocks, dilated cardiomyopathy, and sudden death.

Define the full phenotypic spectrum of a new mutation in the LMNA gene causing limb girdle muscular dystrophy type 1B.

We identified a large French Canadian family with the LGMD 1B phenotype and a cardiac conduction disease phenotype that carried a new mutation in the LMNA gene and sought to define its full phenotypic spectrum by performing complete neurological and cardiac evaluations, muscle biopsy, RNA and DNA studies.

The proband and 12 living at risk relatives were tested. In total, we identified seven carriers of a new (IVS9-3C>G) LMNA gene mutation. Of the three symptomatic patients, all had cardiac involvement, but only two presented proximal limb weakness. The one available muscle biopsy demonstrated a normally expressed lamin A/C protein, localized at the nuclear envelope. RNA study revealed a loss of exon 10 transcription caused by the IVS9-3C to G splicing mutation.

We have identified a new mutations in the LMNA gene in a French-Canadian family. This diagnosis has important implications for affected patients and their siblings since they may eventually require pacemaker implantation.

Previous studies describe significant rates of misdiagnosis of stroke, seizure and other neurological problems, but there are few studies examining diagnostic accuracy of all emergency referrals to a neurology service. This information could be useful in focusing the neurological education of physicians who assess and refer patients with neurological complaints in emergency departments.

All neurological consultations in the emergency department at a tertiary-care teaching hospital were recorded for six months. The initial diagnosis of the requesting physician was recorded for each patient. This was compared to the initial diagnosis of the consulting neurologist and to the final diagnosis, as determined by retrospective chart review.

Over a six-month period, 493 neurological consultations were requested. The initial diagnosis of the requesting physician agreed with the final diagnosis in 60.4% (298/493) of cases, and disagreed or was uncertain in 35.7% of cases (19.1% and 16.6% respectively). In 3.9% of cases, the initial diagnosis of both the referring physician and the neurologist disagreed with the final diagnosis. Common misdiagnoses included neurocardiogenic syncope, peripheral vertigo, primary headache and psychogenic syndromes. Often, these were initially diagnosed as stroke or seizure.

Our data indicate that misdiagnosis or diagnostic uncertainty occurred in over one-third of all neurological consultations in the emergency department setting. Benign neurological conditions, such as migraine, syncope and peripheral vertigo are frequently mislabeled as seizure or stroke. Educational strategies that emphasize emergent evaluation of these common conditions could improve diagnostic accuracy, and may result in better patient care.

To quantify the prevalence of cerebral palsy (CP) in British Columbia within a four-year birth cohort.

The study was a population-based record linkage study of a birth cohort of British Columbian children born between April 1, 1991 and March 31, 1995. Cases were identified by the presence of International Classification of Diseases, Version 9 (ICD-9) diagnostic code “343” recorded at three years of age or older or by having the ICD-9 diagnostic code “343” recorded prior to the third birthday with two confirmatory diagnoses within the first three years of life through a record search of the BC Medical Services Plan billing files for the fiscal years 1991 to 1995.

This research has provided an estimate of the prevalence of CP in the four-year birth cohort 1991 to 1995 in British Columbia. An aggregate prevalence rate of CP was measured as 2.68 per 1000 live births, and a congenital rate was measured at 2.57 for the same population. Birth weight and gestational age demonstrated a significant relationship with the development of CP. This study should lend credence to the establishment of a CP register in British Columbia.

In the emergency department, portable point-of-care testing (POCT) coagulation devices may facilitate stroke patient care by providing rapid International Normalized Ratio (INR) measurement. The objective of this study was to evaluate the reliability, validity, and impact on clinical decision-making of a POCT device for INR testing in the setting of acute ischemic stroke (AIS).

A total of 150 patients (50 healthy volunteers, 51 anticoagulated patients, 49 AIS patients) were assessed in a tertiary care facility. The INR’s were measured using the Roche Coaguchek S and the standard laboratory technique.

The interclass correlation coefficient and 95% confidence interval between overall POCT device and standard laboratory value INRs was high (0.932 (0.69 - 0.78). In the AIS group alone, the correlation coefficient and 95% CI was also high 0.937 (0.59 - 0.74) and diagnostic accuracy of the POCT device was 94%.

When used by a trained health professional in the emergency department to assess INR in acute ischemic stroke patients, the CoaguChek S is reliable and provides rapid results. However, as concordance with laboratory INR values decreases with higher INR values, it is recommended that with CoaguChek S INRs in the > 1.5 range, a standard laboratory measurement be used to confirm the results.

To evaluate the prevalence of restless legs syndrome (RLS) in patients with chronic obstructive pulmonary disease (COPD) and the relationship between RLS and clinical/laboratory findings of COPD.

One hundred and thirty-four COPD patients without secondary causes of RLS were included. Thirty-nine (29.1%) patients were diagnosed with RLS and classified as Group 1. The control group consisted of 65 age-matched COPD patients without RLS. Group 1 was divided into subgroups according to the Johns Hopkins Severity (JHS) scale. Patients with a score of 0, 1, or 2 were classified as JHS 0-2 and those with a score of 3 as JHS 3. Group 1 and the control group and subgroups were compared for clinical and laboratory characteristics.

We found that the duration of COPD was longer and that airway obstruction, hypercapnia, and hypoxia were more evident in patients with RLS than those without. Similar differences were also detected between JHS subgroups 3 (more severe) and 0-2. Polyneuropathy frequency was significantly higher in Group 1 compared to controls. However, Group 1 subgroups showed a similar frequency of polyneuropathy. In a multivariate analysis, hypercapnia made a significant independent contribution to both JHS 0-2 and JHS 3 patients when RLS severity was set as the dependent variable. Polyneuropathy and the duration of COPD were significant independent variables for patients in the JHS 3 subgroup. Polyneuropathy was the strongest predictor for the JHS 3 patients.

We conclude that RLS is frequent in COPD, particularly in patients with severe hypoxemia/hypercapnia and in late stages of the disease.

Foreign Accent Syndrome (FAS) is a rare acquired syndrome following neurological damage that results in articulatory distortions that are commonly perceived as a “foreign” accent. The nature of the underlying deficit of FAS remains controversial. We present the first reported Canadian case study of FAS following a stroke. We describe a stroke patient, RD, who suffered an acute infarction to the left internal capsule, basal ganglia and frontal corona radiata. She was diagnosed as having FAS without any persistent aphasic symptoms. Family, friends, and health care professionals similarly described her speech as sounding like she had a Canadian East Coast accent, a reported change from her native Southern Ontario accent.

An investigation of this case was pursued, incorporating neuroimaging, neuropsychological and speech pathology assessments, and formalized linguistic analyses.

Linguistic analyses confirmed that RD’s speech does in fact have salient aspects of Atlantic Canadian English in terms of both prosodic and segmental characteristics. However, her speech is not entirely consistent with an Atlantic Canadian English accent.

The fact that RD’s speech is perceived as a regional variant of her native language, rather than the “generic foreign accent” of FAS described elsewhere, suggests that the perceived “foreignness” in FAS is not primarily due to dysfluencies which indicate a non-native speaker, but rather due to very subtle motor-planning deficits which give rise to systemic changes in specific phonological segments. This has implications for the role of the basal ganglia in speech production.

Intravascular large cell lymphoma (ILCL) is a diagnostic challenge, with neurological, cutaneous and constitutional symptoms. The natural history is usually an evolution to a comatose state. As invasive procedures are usually required for diagnosis, recognizing the typical clinical pattern is critical since an effective treatment is available.

After an extensive literature review of the subject, we report a case of ILCL, analyzing clinical, laboratory, radiological and pathological data. We will also give a special attention to the clinical picture of a conus medullaris (CM) lesion with subsequent encephalopathy in the same patient.

We report here a 61-year-old woman with a paraplegia caused by a CM lesion, evolving about one year latter to encephalopathy and eventual coma, with the diagnosis of ILCL confirmed by autopsy. The present case is similar to eight other cases in literature who had CM lesion associated with ILCL, knowing that 80-90% of these patients will eventually evolve to encephalopathy without treatment. Conclusions: ILCL is a recognized but rare cause of coma. Diagnosing it is tremendously important since it is fatal if left untreated. We propose that this specific picture (conus medullaris lesion, eventually evolving to encephalopathy) is quite characteristic and will directly result in better outcome if recognized.