Dystonia must be accurately diagnosed so that treatment can be administered promptly. However, dystonia is a complex disorder, with variable presentation, which can delay diagnosis.

Data were gathered by questionnaire from 866 patients with dystonia or hemifacial spasm (HFS) treated in 14 movement disorders centres in Canada injecting botulinum toxin, to better understand the path to diagnosis, wait times and obstacles to treatment.

Most participants were female (64.1%), mean age was 58 years, and patients consulted an average of 3.2 physicians before receiving a dystonia or HFS diagnosis. Many patients (34%) received other diagnoses before referral to a movement disorders clinic, most commonly “stress” (42.7%). A variety of treatments were often received without a diagnosis. The mean lag time between symptom onset and diagnosis was 5.4 years. After the decision to use botulinum toxin, patients waited a mean of 3.1 months before treatment. The most common diagnoses were cervical dystonia (51.6% of patients), HFS (20.0%) and blepharospasm (9.8%).

Survey results show that diagnosis of dystonias or of HFS, and therefore, access to treatment, is delayed. An educational program for primary care physicians may be helpful to decrease the time to diagnosis and referral to a specialist centre for treatment.

Complex cerebral aneurysms may require indirect treatment with revascularization. This manuscript describes various surgical revascularization techniques together with clinical outcomes.

Thirty-two consecutive patients with complex cerebral aneurysm were managed from November 2005 to October 2008. Techniques used for revascularization were high-flow bypass, low-flow bypass, branch artery reimplantion, and primary reanastomosis. Physiologic and anatomic monitoring technologies, including electroencephalography, somatosensory evoked potential monitoring, microvascular doppler ultrasonography, and/or indocyanine green videoangiography were used intraoperatively to assess both brain physiology and vascular anatomy. Patient outcome was determined using the Glasgow Outcome Scale at discharge and at a mean of 12 months post operation (range 6-25 months).

Two cervical carotid aneurysms (6%) were resected followed by primary reanastomosis, 21 aneurysms (66%) were trapped following saphenous vein high-flow bypasses, five (16%) were clipped after superficial temporal or occipital artery low-flow bypasses, and four (12%) middle cerebral branch arteries were reimplanted. Of the 32 patients at discharge, 29 (91%) had a Glasgow Outcome Scale of four or five, two (6%) had severe disability, and one (3%) died.

Cerebral revascularization remains an effective and reliable procedure for treatment of complex cerebral aneurysms. Low morbidity and mortality rates reflect the maturity of patient selection and surgical technique in the management of these lesions.

Few data exist on the frequency and burden of childhood epilepsy in Canada and on the impact in the general population. We have assessed the point prevalence of childhood epilepsy in Canada.

We analyzed data from the National Longitudinal Survey of Children and Youth (N=20 025 for Cycle 2, and N= 31 960 for cycle 3). Each cycle was collected over a two year period (2: 1996-1997, 3: 1998-1999). In the survey the following specific question was asked to the person most knowledgeable in the household: "Does the child have any of the following long-term conditions that have been diagnosed by a health professional?" The list of responses included Epilepsy and certain co-morbid conditions. In addition, a subsequent question identified whether the condition was treated by means of a specific anticonvulsant medication, (anticonvulsants or anti-epileptic pills?). Prevalence was based on the national standard population at the time of each survey.

In Cycle 2,80 of 20 025 subjects from 0 to 13 years old were described to have the diagnosis of epilepsy, yielding a weighted point prevalence of 4.03 per 1 000. In Cycle 3 161 of 31 960 children from 0 to 15 were described as having epilepsy, yielding a weighted point prevalence of 5.26 per 1 000. The rate of epilepsy was higher for males and increases with age.

The overall rates for this age cohort are consistent with those obtained in other developed countries and seem to coincide with rates for youth and adults in Canada.

The objective of this study was to investigate whether medical television dramas portray proper seizure first aid.

Episodes of the four highest-rated US medical dramas (“Grey's Anatomy,” “House M.D.”, “Private Practice,” and “ER”) were screened for the presence of seizures. “Patient” age, sex, semiology, and etiology were recorded. The appropriateness of seizure first aid management was determined by comparison to the Epilepsy Foundation of America (EFA) guidelines.

Among 364 television programs, 65 seizures (in 59 individuals) were identified (30 males; 29 females). Seizures were primary or secondarily generalized tonic-clonic in 53 (81.5%) cases. Other seizure types included complex partial (5, 7.7%), simple partial (1, 1.5%), myoclonic (1, 1.5%), absence (1,1.5%), and psychogenic (1, 1.5%). On 63 occasions (96.9%), first aid was performed by a health care professional. First aid management was judged appropriate in 21 (32.3%) seizures, inappropriate in 28 (43.1%), and indeterminate in 16 (24.6%). Inappropriate practices included holding the person down (17, 26.2%), trying to stop the involuntary movements (10, 15.4%) and putting something in the person's mouth (11, 16.9%).

The first aid management of seizures performed by actors portraying health care professionals was inappropriate in nearly half of all cases. Inaccurate depiction of seizure first aid management may contribute to misinformation of the general public. The television industry could easily incorporate the simple first aid EFA seizure guidelines as a public service without sacrificing dramatic impact.

Despite the evidence of cognitive deficits in Multiple Sclerosis (MS) patients, evaluation of their cognitive integrity is often limited to the use of clinical interviews and questionnaires. However, the consensus in the literature is that these patients under- or overestimate their deficits and repercussions. The objective of this study was to clarify why some patients overestimate while others underestimate their memory deficits.

Fifty-four participants (30 MS, 24 controls) completed the Prospective and Retrospective Memory Questionnaire (PRMQ) and were tested on a battery of neuropsychological tests. Based on the test results, MS patients were categorized as having either mild or moderate/severe cognitive deficits.

The moderate/severe MS group differed from the two other groups on the Rey Auditory Verbal Learning Test (RAVLT) but did not differ from the control group on the PRMQ. Conversely, the mild MS group did not differ from the control group on the RAVLT but did report significantly more problems than this group on the PRMQ. There was no difference between the two clinical groups on the Depression Index (Beck) but there was a significant correlation (r=.409) between the depression scores and the overestimation of prospective memory problems (PRMQ).

The results explain the contradiction in the literature. It is the mild group who overestimates, maybe because they are overly concerned by their deficits, whereas the cognitive impairments of the moderate/severe group lead them to underestimate and may make their self-assessment unreliable. Formal testing or information from a significant other would be advisable.

Stereotactically-focused radiosurgery (SRS) for the treatment of arteriovenous malformations (AVM) has been in widespread use for over two decades. Over this timeframe the indications for treatment, standardization of radiation dosage, and the results expected from treatment have been elaborated. Less well known are the long-term complications associated with SRS. We report three patients who had SRS for the treatment of AVM who developed a cyst at the site of treatment as a late complication.

From 201 patients treated by SRS for an AVM, three developed a cyst at the treatment site. Their clinical presentation, the characteristics of the AVMs and the treatment were reviewed, as well as similar cases gleaned from the literature.

Three women, aged 28-43 years, had an AVM treated by: craniotomy and clipping of arterial feeders followed by SRS, by craniotomy for resection followed by SRS or by endo vascular embolization and SRS. The patients did well following treatment but two of them developed a symptomatic and the other an asymptomatic cyst at the treatment site 3-19 years later. The symptomatic patients underwent marsupialization of the cyst and the other is under observation.

Stereotactic radiosurgery is an established and safe treatment for patients with AVMs. Delayed cyst formation can occur many years after treatment and long term follow-up is indicated in patients whose AVM has been treated with SRS.

The “chronic cerebrospinal venous insufficiency” or “CCSVI” hypothesis, namely that multiple sclerosis (MS) is caused by abnormalities in the azygous and internal jugular veins with subsequent alterations in venous hemodynamics in the central nervous system, has been a dominant topic in MS care in Canada over the past year. Although there is no methodologically rigorous evidence to support this hypothesis presently, a considerable number of MS patients have undergone endovascular CCSVI procedures. Such procedures include angioplasty or stent placement in jugular and azygous veins. The safety and efficacy of these procedures is unknown, but not without risk.

Chart and patient review of five patients with confirmed MS followed in Calgary were undertaken after patients came to medical attention by referral or admission secondary to complications believed to be associated with CCSVI procedures.

Complications upon investigation and review included internal jugular vein stent thrombosis, cerebral sinovenous thrombosis, stent migration, cranial nerve injury and injury associated with venous catheterization.

As the debate about CCSVI and its relationship to MS continues, the complications and risks associated with venous stenting and angioplasty in jugular and azygous veins are becoming clearer. As increasing numbers of MS patients are seeking such procedures, these five cases represent the beginning of a wave of complications for which standardized care guidelines do not exist. Our experience and that of our colleagues will be used to develop guidelines and strategies to monitor and manage these patients as their numbers increase.

We have recruited a group of four living and reviewed the records of six deceased distantly related French-Canadians of Acadian descent affected by a childhood-onset form of recessive limb-girdle muscular dystrophy (LGMD). All cases originate from the small archipelago of the Magdalen Islands (population: 13,000) isolated in the Gulf of St-Lawrence.

Based on the likely sharing of the same founder mutation we completed a 319K SNPs genome-wide scan to identify the disease locus and then screen candidate genes in this region.

All patients had normal initial motor milestones. They presented with limb girdle weakness at the average age of seven years (5-11). Progressive weakness led to loss of ambulation at a wide range of ages (10-39). Patients also developed macroglossia, large calves and mild to moderate contractures, hyperlordosis and decreased pulmonary function. Creatine kinase levels were elevated (1,800-10,000 U/L) in the first decades, but decreased with progression of disease. Homozygosity mapping uncovered a shared chromosomal region of 6.33Mb. The alpha sarcoglycan (SGCA) gene, mutated in LGMD2D, lay in this candidate interval. Sequencing of all SGCA exons uncovered a shared homozygous missense mutation (c.229C>T, p.R77C), the most common SGCA mutation internationally reported. Using demographic data, we estimated a high carrier rate of 1/22.

The p.R77C mutation has also been observed in many populations, including in France and Spain (Basques). This corresponds to the first reported recessive founder disease for the Magdalen Islands, an archipelago settled in the XlXth century, largely by Acadian immigrants.

To guide development of public awareness and caregiver support resources for frontotemporal dementia (FTD) syndromes.

We used an online survey to explore their needs. The survey was self-administered by self-identified, English-speaking caregivers for patients with FTD in several countries.

Of 79 caregiver respondents, approximately half were caring for patients with behavioural variant FTD or semantic dementia. The most common initial symptoms were Changes in Thinking and Judgment. Half of the respondents identified “failure to recognize the early stage of illness as a dementia” as the most troublesome aspect. Accordingly, over 40% of respondents had difficulty obtaining an accurate diagnosis for the patient. Caregivers prioritized family counseling and the public educational message that dementia can affect young people.

The largest international survey of FTD caregivers to-date showed that support is needed for all family members adapting to the shock of early-onset dementia, and this may be most readily provided online.