The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.

We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.

fMRI brain response during sentence reading comprehension in children with benign epilepsy with centro-temporal spikes.

INTRODUCTION: Children with benign epilepsy with centro-temporal spikes (BECTS) often have language problems. Abnormal epileptic activity is found in central and temporal brain regions, which are involved in reading and semantic and syntactic comprehension. Using functional magnetic resonance imaging (fMRI), we examined reading networks in BECTS children with a new sentence reading comprehension task involving semantic and syntactic processing. METHOD: Fifteen children with BECTS (age=11y 1m ± 16 m; 12 boys) and 18 healthy controls (age=11 y 8m ± 20 m; 11 boys) performed an fMRI reading comprehension task in which they read a pair of syntactically complex sentences and decided whether the target sentence (the second sentence in the pair) was true or false with respect to the first sentence. All children also underwent an exhaustive neuropsychological assessment. RESULTS: We demonstrated weaknesses in several cognitive domains in BECTS children. During the sentence reading fMRI task, left inferior frontal regions and bilateral temporal areas were activated in BECTS children and healthy controls. However, additional brain regions such as the left hippocampus and precuneus were activated in BECTS children. Moreover, specific activation was found in the left caudate and putamen in BECTS children but not in healthy controls. Cognitive results and accuracy during the fMRI task were associated with specific brain activation patterns. CONCLUSION: BECTS children recruited a wider network to perform the fMRI sentence reading comprehension task, with specific activation in the left dorsal striatum. BECTS cognitive performance differently predicted functional activation in frontal and temporal regions compared to controls, suggesting differences in brain network organisation that contribute to reading comprehension.

Rehabilitation service utilization in children and youth with cerebral palsy.

AIM: To describe the pattern of use of rehabilitation services in children and adolescents with cerebral palsy (CP), and to identify factors associated with use. METHODS: In this study, parents of 91 school-age children and 167 adolescents with CP completed a questionnaire regarding educational and rehabilitation resources received within the last 6 months. Rehabilitation services included occupational therapy (OT), physical therapy (PT), speech language pathology (SLP), psychology and special education. Demographic characteristics were documented and developmental and functional status was assessed. Relationships between service utilization and sociodemographic factors, functioning and school setting were determined. RESULTS: Over half of children (53.2%) and adolescents (57.5%) were in regular schools; however, 41% of these required special education resources. The remainder (42.5-46.8%) was in special schools. The majority of children (84.6%) were receiving at least one rehabilitation service although this decreased (68.1%) in adolescence. PT and OT were most common and services were provided predominantly in the school setting. Services were primarily weekly direct interventions at school age, with weekly interventions or consultations most common for adolescents. Younger age was associated with service receipt at school age only. Children with greater motor limitations, lower IQ and greater activity limitations were more likely to receive OT, PT, SLP or special education. Children in segregated schools were significantly more likely to receive rehabilitation services, when compared with children in regular schools. CONCLUSIONS: The majority of children and youth received one or more services. Individuals with greater motor or cognitive challenges were more likely to receive a range of school-based services from rehabilitation specialists. When compared with children of school age, adolescents were less likely to receive services and when provided, services were more likely to be consultative. Services may need to be more optimally organized through childhood to enhance benefits to children with CP across activity limitation profiles.

Influence of imaginary target on "dumping" of vestibulo-ocular reflexes and postural control.

Two studies explored 1) the effect of instruction set upon the well known "dumping" of the vestibulo-ocular (VOR) post-rotatory nystagmus long time constant (TC) and 2) the effect of imaginary earth-fixed targets on postural control. Imaginary targets do not produce dumping and do not improve postural stability, with or without pitch head movements.

Medical and nonmedical stimulant use among adolescents: from sanctioned to unsanctioned use.

BACKGROUND: The past decade has seen a generalized upward trend in the prevalence of adolescent use of substances, including stimulants. The purpose of this article was to determine the prevalence of and risk factors for the medical and nonmedical use of stimulants, and the diversion of prescribed stimulants among adolescent students, and to demonstrate links between medical use, nonmedical use and the diversion of stimulants. METHODS: A self-reported anonymous questionnaire was administered in 1998 to a random sample of students in grades 7, 9, 10 and 12 in New Brunswick, Nova Scotia, Prince Edward Island, and Newfoundland and Labrador about their medical and nonmedical use of stimulants (Benzedrine, Dexedrine, Ritalin, Cylert, diet pills, "speed," "uppers," "bennies" and "pep pills"). A total of 13,549 students completed the questionnaire, representing a 99% participation rate among the students present at school on the day of the survey. RESULTS: Of the 5.3% of students who reported medical use of stimulants in the 12 months before the survey, 14.7% reported having given some of their medication, 7.3% having sold some of their medication, 4.3% having experienced theft and 3.0% having been forced to give up some of their medication. Nonmedical stimulant use by students who did not have a prescription for stimulants was significantly related to increased numbers of students who gave or sold some of their prescribed stimulants, at both the school class and individual student levels (p < 0.001). INTERPRETATION: Although the vast majority of adolescent students taking prescribed stimulants appeared to be using their medication as sanctioned, a link was found between medical and nonmedical stimulant use and the diversion of medication from sanctioned to unsanctioned use.

Recovery from vestibular ototoxicity.

OBJECTIVE: Determine whether subjects with documented vestibular ototoxicity recover vestibular function and, if so, investigate the recovery dynamics. STUDY DESIGN: Prospective and retrospective reviews and repeated measures. SETTING: Clinical research and technology center. SUBJECTS: Twenty-eight subjects who received vestibulotoxic medications were followed for at least 12 months after initial treatment. CONTROLS: Our subject sample was compared with a published database of normal individuals. INTERVENTIONS: All 28 subjects received systemically administered medications known to be ototoxic. The subjects' treating physicians controlled medication, dosage, and administration schedules. MAIN OUTCOME MEASURES: Tests of horizontal canal vestibulo-ocular function were performed. Subjects' auditory and vestibular symptoms were recorded. RESULTS: Eleven subjects (39%) showed changes in horizontal canal vestibulo-ocular gain constant (GC) and/or time constant (TC) consistent with vestibular ototoxicity. When tested 1 year after ototoxic drug administration, eight of the nine subjects who experienced ototoxic decrease in GC showed a recovery of GC to normal limits. Only one of the eight subjects who experienced ototoxic decrease in TC showed recovery of TC to within normal limits. Ototoxicity onset and recovery were independent of baseline vestibular function, and ototoxicity onset did not correlate with cumulative dose of ototoxic medication. There was no relationship between subjective symptoms and ototoxicity onset. CONCLUSIONS: Recovery of GC after vestibular ototoxicity is more commonly observed than recovery of TC. Because ototoxic changes developed and continued in an unpredictable time and manner in relation to ototoxic drug administration, we propose that once ototoxic changes in vestibulo-ocular reflex are detected, ototoxic medications should be discontinued as soon as possible.

Can imaginary head tilt shorten postrotatory nystagmus?

In healthy subjects, head tilt upon cessation of a constant-velocity yaw head rotation shortens the duration of postrotatory nystagmus. The presumed mechanism for this effect is that the velocity storage of horizontal semicircular canal inputs is being discharged by otolith organ inputs which signal a constant yaw head position when the head longitudinal axis is no longer earth-vertical. In the present study, normal subjects were rotated head upright in the dark on a vertical-axis rotational chair at 60 degrees/s for 75 s and were required to perform a specific task as soon as the chair stopped. Horizontal position of the right eye was recorded with an infra-red video camera. The average eye velocity (AEV) was measured over a 30-s interval following chair acceleration/deceleration. The ratios (postrotatory AEV/perrotatory AEV) were 1.1 (SD 0.112) when subjects (N=10) kept their head erect, 0.414 (SD 0.083) when subjects tilted their head forward, 1.003 (SD 0.108) when subjects imagined watching a TV show, 1.012 (SD 0.074) when subjects imagined looking at a painting on a wall, and 0.995 (SD 0.074) when subjects imagined floating in a prone position on a lake. Thus, while actual head tilt reduced postrotatory nystagmus, the imagination tasks did not have a statistically significant effect on postrotatory nystagmus. Therefore, velocity storage does not appear to be under the influence of cortical neural signals when subjects imagine that they are floating in a prone orientation.

Prevalence of Chlamydia trachomatis and Neisseria gonorrhoeae among at-risk women, young sex workers, and street youth attending community organizations in Quebec City, Canada.

BACKGROUND: Despite a relatively recent decline in the global incidence of Chlamydia trachomatis and Neisseria gonorrhoeae it seems that some segments of the population such as street youth, sex workers, and individuals with social problems or delinquent behavior could be part of a core group for STDs. These persons may be reluctant to undergo STD diagnosis in traditional medical settings. GOALS: To determine the prevalence of C trachomatis and N gonorrhoeae infection using polymerase chain reaction on urine samples among subjects attending an anonymous HIV testing clinic and four community organizations in Quebec City, and to identify associated risk factors. STUDY DESIGN: A cross-sectional study of 626 street youth, sex workers, and women with social problems or delinquent behavior was conducted. RESULTS: The prevalences of N gonorrhoeae and C trachomatis were, respectively, 1.1% (95% CI, 0.5%--2.3%) and 5.8% (95% CI, 4.1%--7.9%). No significant difference was found between men and women, but the sexually transmitted disease (STD) prevalence was much higher in subjects younger than 20 years: 11.4% versus 3.6% (P < 0.01). In a logistic regression model, factors independently associated with STD infection were age younger than 20 years (OR, 2.6; P = 0.007), occasional sex partners (OR, 2.9; P = 0.007), and injection of drugs (OR, 2.8; P = 0.002) in the preceding 6 months. CONCLUSIONS: A moderate STD prevalence was found in the study population. The prevalence, however, can be considered high (>10%) among street youth and young sex workers. Providing community-based STD screening and treatment services appear to be an efficient method for reaching these high-risk groups.

Reliability of intraoperative electrophysiological monitoring in selective posterior rhizotomy.

OBJECT: Selective posterior rhizotomy is a well-established treatment for spasticity associated with cerebral palsy. At most medical centers, responses of dorsal rootlets to electrical stimulation are used to determine ablation sites; however, there has been some controversy regarding the reliability of intraoperative stimulation. The authors analyzed data obtained from the McGill Rhizotomy Database to determine whether motor responses to dorsal root stimulation were reproducible. METHODS: A series of 77 patients underwent selective dorsal rhizotomy at a single medical center. The dorsal roots from L-2 to S-2 were stimulated to determine the threshold amplitude. The roots were then stimulated at 2 to 4 times the highest threshold with a 1-second 50-Hz train. A second stimulation run of the entire dorsal root was performed before it was divided into rootlets. Rootlets were individually stimulated and sectioned according to the extent of abnormal electrophysiological propagation. Motor responses were recorded by electromyography and were also assessed by a physiotherapist, and grades of 0 to 4+ were assigned. The difference in grades between the first and second stimulation trains was determined for 752 roots. Statistical analysis demonstrated a clear consistency in motor responses between the two stimulation runs, both in the electromyographic readings and the physiotherapist's assessment. More than 93% of dorsal roots had either no change or a difference of only one grade between the two trials. Furthermore, the vast majority of dorsal roots assigned a grade of 4+ at the first trial maintained the same maximally abnormal electrophysiological response during the second stimulation run. CONCLUSIONS: This study indicates that currently used techniques are reproducible and reliable for selection of abnormal rootlets. Intraoperative electrophysiological stimulation can be valuable in achieving a balance between elimination of spasticity and preservation of underlying strength.

Evaluation of a modified sanitary napkin as a sample self-collection device for the detection of genital chlamydial infection in women.

A modified sanitary napkin was compared with endocervical swab and urine specimens for the detection of urogenital Chlamydia trachomatis infection. Endocervical swabs and/or first-catch urine were collected from 510 women at medical or community settings in Quebec City. Participants were also asked to wear a modified sanitary napkin (Ezy-Detek) during 4 consecutive hours and to bring it back to the clinic or mail it to the laboratory. Endocervical and urine specimens were tested using the Cobas Amplicor CT/NG assay (Roche Diagnostic Systems) according to the manufacturer's instructions, as were specimens collected with the napkin after adequate preparation. If the PCR test result was positive on the endocervical sample or on any two samples, a woman was considered to be infected. PCR testing results on paired samples were identical for 493 (96.6%) of 510 women. According to the definition given above, 58 (11.3%; 95% confidence interval [CI], 8.7 to 14.5%) women were infected with C. trachomatis. The sensitivity and specificity of PCR testing on modified sanitary napkin specimens were, respectively, 93.1% (54 of 58; 95% CI, 83.3 to 98.1%) and 98.9% (447 of 452; 95% CI, 97.4 to 99.6%) compared to 81.0% (47 of 58; 95% CI, 68.6 to 90.1%) and 100% (451 of 451; 95% CI, 99.2 to 100%) for urine specimens. The positive and negative predictive values were, respectively, 91.5% (54 of 59) and 99.1% (447 of 451) for the sanitary napkin specimens compared to 100% (47 of 47) and 97.6% (451 of 462) for urine samples. These results suggest that a modified sanitary napkin represents an effective noninvasive device for self-collection of specimens to detect urogenital C. trachomatis infection.

The association between substance use, unplanned sexual intercourse and other sexual behaviours among adolescent students.

AIMS: To determine the prevalence of high-risk sexual behaviours and the influence of substance use and unplanned sexual intercourse on multiple sexual partners, inconsistent condom use and reasons for not always using condoms among adolescent students. DESIGN: A standardized self-reported anonymous questionnaire administered to a representative sample of students. SETTING: The Canadian provinces of Nova Scotia, New Brunswick, Newfoundland and Labrador, and Prince Edward Island in 1998. PARTICIPANTS: 9997 students in grades 9, 10 and 12 in the public school system. MEASUREMENTS: Items on sexual intercourse, unplanned sexual intercourse, number of sexual partners, condom use, alcohol use, episodes of binge drinking and drunkenness, cigarette smoking and cannabis use. FINDINGS: About 37.5% of males and 39.7% of females reported having engaged in sexual intercourse in the 12 months prior to the survey. Of those, 68.0% of males and 61.5% of females reported having engaged in unplanned sexual intercourse, 40.9% of males and 32.1% of females reported having more than one sexual partner, and 49.9% of males and 64.1% of females reported inconsistent condom use. Unplanned sexual intercourse under the influence of alcohol or other drug was found to be an independent risk factor for multiple sexual partners and inconsistent condom use. CONCLUSION: The demonstration of an association between substance use, unplanned sexual intercourse and other sexual behaviours lends support to a harm minimization approach, including the provision of non-judgemental information and interventions addressing unplanned sexual intercourse under the influence of a substance.

Inhibition of human dermal fibroblast proliferation by removal of dermatan sulfate.

In the current study, a glycosaminoglycan lyase, chondroitinase B, was used to study the role of dermatan sulfate proteoglycans on human dermal fibroblast proliferation. Pretreatment with chondroitinase B significantly decreased fibroblast proliferative responses to serum (20% to 55%). In contrast, heparinase III and chondroitinase AC were less effective in inhibiting fibroblast proliferation to serum. Analysis of glycosaminoglycans on chondroitinase B-treated fibroblasts confirmed that dermatan sulfate was removed from fibroblasts by this enzyme. Chondroitinase B treatment also decreased proliferation to basic fibroblast growth factor (bFGF) by 20% and reduced receptor binding by 25%. Heparinase III inhibited bFGF binding by 73%, but decreased proliferation to bFGF by only 21%. Chondroitinase AC had no effect on bFGF proliferation or binding. These data suggest that dermatan sulfate proteoglycans play a significant role in the control of human dermal fibroblast proliferation.

[Drugs, Poverty and HIV: results regarding a provincial needle exchange program in Point de Repères, Quebec]. / Drogues, pauvreté et VIH: données en provenance du programme d'échange de seringues Point de Repères, Québec.

In this study (n = 200), the characteristics of IDUs participating in a provincial needle exchange program (NEP) for more than 2 years (> 2 years) were compared with those of IDUs having participated for less than 2 years (< or = 2 years). Compared to the < or = 2 years, the > 2 years were more often recipients of welfare (RC: 4.7), especially among the HIV-positive (RC: 62.0); tried quitting drugs more frequently (RC: 3.8); more often recommended the NEP to other IDUs (RC: 3.1); and more often requested being given shelter and longer opening hours (RC: 3.6). These results highlight the urgent need to improve and develop transitional and support services for the > 2 years. Preventive interventions that would reach out to the < or = 2 years where they live should also be implemented in close collaboration with organizations involved in mental health and drug use prevention.

Septo-optic dysplasia plus: a spectrum of malformations of cortical development.

The authors describe three children with septo-optic dysplasia (SOD)-plus: SOD and an associated malformation of cortical development. All three children had developmental delay, and two of the children had significant associated motor deficits. The associated cortical malformations with SOD include a spectrum of disorders of neuronal organization, not limited, as previously described, to schizencephaly. SOD-plus should be suspected in children with SOD and developmental delay.

Problem gambling among adolescent students in the atlantic provinces of Canada.

The objectives of the present study were to determine the prevalence of problem gambling among adolescent students in the Atlantic provinces of Canada, and to determine the role of age and deception about legal age status as potential risk factors for problem gambling. In 1998, a total of 13,549 students in grades 7, 9, 10 and 12 in the public school systems of the four Atlantic provinces completed a self-reported anonymous questionnaire that included the South Oaks Gambling Screen-Revised for Adolescents. About 8.2% and 6.4% of adolescent students met the broad definition of at-risk and problem gambling, respectively. About 3.8% and 2.2% of adolescent students met the narrow definition of at-risk and problem gambling, respectively. The prevalence of problem gambling did not vary according to age. Using a fake identification or lying about one's age was found to be an independent risk factor for problem gambling. Playing video gambling machines was the gambling activity associated with the single greatest independent risk of using a fake identification or lying about one's age. It was concluded that deception about legal age status may be a facilitating factor permitting adolescents to gamble to the point of experiencing problems.

Prevalence of Chlamydia trachomatis, Neisseria gonorrhoeae, and HIV infection among drug users attending an STD/HIV prevention and needle-exchange program in Quebec City, Canada.

OBJECTIVES: To determine the prevalence of Chlamydia trachomatis, Neisseria gonorrhoeae, and human immunodeficiency virus (HIV) infection among injection and noninjection drug users in Quebec City and to identify associated risk factors. STUDY DESIGN: Cross-sectional study of 738 drug users attending a sexually transmitted disease/HIV prevention and needle-exchange program in Quebec City, Canada. RESULTS: The prevalences of N. gonorrhoeae and C. trachomatis were, respectively, 0.4% (95% CI: 0.08%-1.2%) and 3.4% (95% Cl: 2.2%-5.0%). Through multivariate analysis, risk factors associated with sexually transmitted diseases were: among women, being aged between 20 and 24 years and having unprotected sex with commercial partners; in noninjection drug users; cocaine use and first intercourse before 13 years of age; in male noninjection drug users, having regular sexual partners in the previous 6 months. No case of HIV was found in participants who have never injected drugs, but the prevalence was 5.5% (6/110) among the exinjectors and 10.1% (35/347) in current injectors. CONCLUSION: Moderate sexually transmitted disease and HIV prevalences were found, although a high proportion of drug users reported risky behaviors. Needle-exchange program sites may offer a good opportunity to provide sexually transmitted disease/HIV prevention and medical services to drug users.

Harm reduction: concepts and practice. A policy discussion paper.

This paper provides an overview of the context, definition, and key features of the harm reduction approach, and provides several examples of current programs in various countries. Both licit and illicit drugs are included in these illustrations. Some of the critical issues, and the strategies needed to advance harm reduction, are discussed. [Translations are provided in the International Abstracts Section of this issue.]