Development of the Prevent for Work questionnaire (P4Wq) for assessment of musculoskeletal risk in the workplace: part 1-literature review and domains selection

Objective This study aims to define appropriate domains and items for the development of a self-administered questionnaire to assess the risk of developing work-related musculoskeletal disorder (WMSD) and the risk of its progression to chronicity. Design Literature review and survey study. Setting and participants A literature review and a two-round interview with 15 experts in musculoskeletal pain were performed to identify the available domains for WMSD assessment. Interventions and outcome To ensure quality, only validated questionnaires were included for the Delphi process. A three-round Delphi method, with three round steps, was used to select the most pertinent and relevant domains and items. Results Nine questionnaires were identified through the expert discussion and literature review, comprising 38 candidate domains and 504 items. In the first round of the Delphi group, 17 domains reached more than 70% agreement and were selected. In the second round, 10 domains were rejected, while 11 were selected to complete the pool of domains. In the third and final round, 89 items belonging to 28 domains were defined as significant to develop a WMSDs risk assessment questionnaire. Conclusions No specific risk assessment questionnaires for WMSDs were identified from the literature. WMSD risk of presence and chronicity can be defined by an assessment tool based on the biopsychosocial model and the fear-avoidance components of chronic pain. The present study provides the formulation and operationalisation of the constructs in domains and items needed for developing and validating the questionnaire

Redefining the MED13L syndrome.

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits