Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices.

Objective: To understand current genetic testing practices at Canadian ALS clinics. Methods: An online survey and phone interviews, with clinicians practicing in 27 ALS clinics in Canada, were employed to collect data. Quantitative and qualitative analyses were conducted. Results: Ninety-three percent (25/27) of ALS clinics in Canada are routinely ordering genetic testing for familial ALS, while 33% (9/27) of clinics are routinely ordering genetic testing for sporadic ALS. Barriers to genetic testing include a perceived lack of an impact on treatment plan, difficulty in obtaining approvals, primarily from provincial Ministries of Health, and limited access to genetic counseling. Predictive testing practices were found to be the most variable across the country. The average wait time for a symptomatic patient living with ALS to see a genetic counselor in Canada is 10 months (range 0-36 months). Conclusions: Access to genetic testing, and testing practices, vary greatly across Canadian ALS clinics. There may be patients with a monogenetic etiology to their ALS who are not being identified given that genetic testing for patients diagnosed with ALS is not routinely performed at all clinics. This study highlights potential inequities for patients with ALS that can arise from variability in health care delivery across jurisdictions, in a federally-funded, but provincially-regulated, health care system. Clinical trials for both symptomatic ALS patients and pre-symptomatic ALS gene carriers are ongoing, and ALS clinicians in Canada are motivated to improve access to genetic testing for ALS.

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types.

We present a patient who had two allogeneic bone marrow transplantations for acute lymphocytic leukemia. She developed slowly progressive limb-girdle weakness in the context of other symptoms of graft-vs.-host disease (GVHD). Her myopathy symptoms had been initially attributed to GVHD, but when she progressed despite immunotherapy, genetic testing was requested. Initial testing was performed on a blood sample, identifying a variant of unknown significance in DMD. Subsequent testing of DNA from the patient's muscle tissue identified two pathogenic variants in CAPN3, with absence of the DMD variant (this latter variant presumed to have been received from the donor). Allele-specific digital droplet qPCR permitted the quantification of the donor variant in various tissues from the patient (whole skin, isolated fibroblasts, whole blood, saliva, buccal cells, urine sediment, and two muscle biopsies taken at a 2 year interval). This report emphasizes that genetic disease should still be considered in the context of presumably acquired disease, and also demonstrates the extent of transdifferentiation of donor cells into other tissues.

Using a social robot to teach gestural recognition and production in children with autism spectrum disorders.

While it has been argued that children with autism spectrum disorders are responsive to robot-like toys, very little research has examined the impact of robot-based intervention on gesture use. These children have delayed gestural development. We used a social robot in two phases to teach them to recognize and produce eight pantomime gestures that expressed feelings and needs. Compared to the children in the wait-list control group (N = 6), those in the intervention group (N = 7) were more likely to recognize gestures and to gesture accurately in trained and untrained scenarios. They also generalized the acquired recognition (but not production) skills to human-to-human interaction. The benefits and limitations of robot-based intervention for gestural learning were highlighted. Implications for Rehabilitation Compared to typically-developing children, children with autism spectrum disorders have delayed development of gesture comprehension and production. Robot-based intervention program was developed to teach children with autism spectrum disorders recognition (Phase I) and production (Phase II) of eight pantomime gestures that expressed feelings and needs. Children in the intervention group (but not in the wait-list control group) were able to recognize more gestures in both trained and untrained scenarios and generalize the acquired gestural recognition skills to human-to-human interaction. Similar findings were reported for gestural production except that there was no strong evidence showing children in the intervention group could produce gestures accurately in human-to-human interaction.

Obinutuzumab Plus Chlorambucil in a Patient with Severe Myasthenia Gravis and Chronic Lymphocytic Leukemia.

Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction, characterized by fatigable weakness of the extraocular, bulbar, and limb musculature; prevalence is estimated at 14 to 32 per 100,000 in North America. Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in adults, resulting from clonal expansion of B-cells in blood, marrow, and secondary lymphoid tissues. The simultaneous presentation of MG and CLL is exceedingly rare. This article presents the case of 71-year-old man diagnosed simultaneously with MG and CLL. His MG was severe and refractory to treatment; therefore, a strategy of treating his coexisting CLL with obinutuzumab and chlorambucil was pursued. Following 6 cycles of obinutuzumab and chlorambucil, his CLL is in remission and his MG is almost entirely undetectable. This is the first case report describing the use of obinutuzumab, a novel anti-CD20 monoclonal antibody, in a patient with concurrent MG and CLL.

Evaluating use and outcomes of mobility technology: a multiple stakeholder analysis.

PURPOSE: This qualitative, multi-site study compared and contrasted the outcomes of mobility technology (MT) and the factors influencing these outcomes from the perspective of MT users, caregivers, and professionals involved in MT service delivery. METHOD: Qualitative focus groups were held in the USA and Canada with multiple stakeholder groups (consumer: n = 45, caregiver: n = 10, service provider: n = 10). Data were analyzed thematically. RESULTS: MT outcomes were conceptualized by participants as a match between expectations for MT and the actual outcomes experienced. Several factors influenced the match including a) MT features, b) environmental factors (e.g. built/physical environment, societal context of acceptance, MT delivery systems/policies), and c) the ability to self-manage the interaction across person, technology and environment, which involved constant negotiation and strategizing. Stakeholders identified MT outcomes that corresponded to ICF levels including body structure and function, activity, and participation across environments; however, varied on their importance and influence on MT impact. CONCLUSIONS: The conceptual fit model and factors related to self-management of MT represent new knowledge and provide a framework for stakeholder-based evaluation of MT outcomes. Implications for MT assessment, service delivery, outcomes research, and interventions are discussed.

Prevalence of shiga toxin-producing Escherichia coli as detected by enzyme-linked immunoassays and real-time PCR during the summer months in northern Alberta, Canada.

Shiga toxin-producing Escherichia coli (STEC) in northern Alberta was detected using two enzyme immunoassays and an in-house real-time PCR. Of 2,328 stool samples, 8 were positive for O157:H7 STEC and 13 were positive for non-O157 STEC. No significant gender (P = 0.17) or age (P = 0.81) differences between groups were seen. Most positive diarrheal stool samples were nonbloody.

Low vision assistive technology device usage and importance in daily occupations.

UNLABELLED: When selected, accepted and used appropriately, low vision assistive technology devices (ATDs) have the potential to facilitate the performance of occupations that lead to positive outcomes. OBJECTIVE: This paper identifies some low vision ATDs currently used and explores their relative importance for the performance of daily occupation from participants' perspectives. PARTICIPANTS: 17 adults (M=56 years old, SD=15.8) with low vision we0re recruited through a purposeful sampling strategy. METHODS: Through one-on-one semi-structured telephone interviews, ATD usage data, ranking of perceived importance of ATDs and verbal data were collected from the participants. RESULTS: A total of 124 devices were identified by the participants of which 104 (83.9%) were used and 20 (16.1%), mostly adaptive computer technologies, were not. 22 (21%) mainstream aids to daily living were identified (large monitor, large screen TV, DVD player) and they ranked high in terms of perceived importance by the participants for daily activities. Verbal feedback from participants supplemented this finding. CONCLUSION: Concepts related to usage and ranking of importance of ATDs for daily occupations are multi-faceted and complex(e.g. combination of devices used, multiple equal rankings, etc.). The authors suggested future research opportunities to examine these concepts through qualitative means.

Towards a comprehensive approach for managing transitions of older workers with hearing loss.

Demographic and legislative trends suggest that many older workers may remain at work past the traditional retirement age. This extended work trajectory poses new challenges and opportunities for workers with acquired hearing loss as they age. Workplaces require a new approach to enable transitions of older workers with hearing loss to remain safe and productive. A review of the literature on older workers, those with hearing loss, and strategies used to accommodate them suggests that individualized and piecemeal approaches are predominant. While universal design represents a fresh ideology that may help create more accessible and usable products and environments, its application to improve workplaces for older workers with hearing loss is limited. This paper proposes that occupational science be integrated with knowledge in hearing sciences, accessibility, and usability to assist with the transitions faced by older workers with hearing loss. A more comprehensive approach including the following three key components will be posited to examine the nexus of aging, hearing loss and work: (1) the use of an occupational perspective, along with concepts in hearing sciences to examine hearing demands and improve hearing access; (2) the use of contextual processes to promote physical and social change, and (3) the inclusion of Universal Design for Hearing (UDH) considerations as stakeholders develop more hearing friendly workplaces.