Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Exploring the Nexus Between Health Promotion and Occupational Therapy: Synergies and Similarities

The similarities between health promotion and occupational therapy have been recognized. Both are based on perspectives that share a goal of enabling individuals and populations to improve control over their health. Consequently, it is logical that the principles of health promotion complement the practice of occupational therapy. Purpose. This paper highlights the affinity between occupational therapy and health promotion, and discusses ways in which health promotion principles can be incorporated into occupational therapy practice. Key Issues. Some Canadian occupational therapists may be unaware of the current discourse in health promotion and, thus, may not be incorporating its principles into practice. Steps are warranted to expand the current knowledge and practice of therapists to include health promotion, with specific attention to providing services for the population. Implications. Incorporating health promotion principles into occupational therapy perspectives will facilitate the implementation of the domains of practice within the occupational therapy profile. This paper highlights how the principles of health promotion can impact practice at the individual and community level

School-Based Occupational Therapy for Children with Fine Motor Difficulties

Consultative occupational therapy services are becoming widely used in the school environment. However, few studies have evaluated the utility of and the process by which these services are delivered. This study examined whether the written communication and fine motor skills of 23 children with fine motor difficulties improved after receiving school-based occupational therapy from a program whose mandate was to deliver services according to a consultation model of service deliver