Training for effective communication in high-stakes environments actively promotes targeted communicative strategies. One oft-recommended strategy is closed-loop communication (CLC), which emphasises three components to signal understanding: call-out, checkback and closing of the loop. Using CLC is suggested to improve clinical outcomes, but research indicates that medical practitioners do not always apply CLC in team communication. Our paper analyses a context in which speakers' linguistic choices are guided by explicit recommendations during training, namely out-of-hospital cardiac arrest (OHCA) resuscitation. We examined 20 real-life OHCA resuscitations to determine whether paramedics adopt CLC in the critical first five minutes after the arrival of the designated team leader (a paramedic specially trained in handling OHCA resuscitation), and what other related communication strategies may be used. The findings revealed that the standard form of CLC was not consistently present in any of the resuscitations despite opportunities to use it. Instead, we found evidence of non-standard forms of CLC and closed-ended communication (containing the first two components of standard CLC). These findings may be representative of what happens when medical practitioners communicate in time-critical, real-life contexts where responses to directives can be immediately observed, and suggest that CLC may not always be necessary for effective communication in these contexts.
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families. Four missense variants were identified in 11 subjects, with seven truncation variants in the remaining individuals. Clinical findings included developmental delay/intellectual disability, behavioral abnormalities, hypotonia, and congenital anomalies. Overlapping and recurrent facial features were identified in all subjects, including thickening and medial broadening of eyebrows, variations in the shape of the face, external eye abnormalities, smooth and/or long philtrum, and ear abnormalities. Hyperparathyroidism was found in four families with missense variants, and enrichment of different tumor types was observed. In molecular studies, DNA-binding domain variants elicited differential expression of a small set of target genes relative to wild-type ZFX in cultured cells, suggesting a gain or loss of transcriptional activity. Additionally, a zebrafish model of ZFX loss displayed an altered behavioral phenotype, providing additional evidence for the functional significance of ZFX. Our clinical and experimental data support that variants in ZFX are associated with an X-linked intellectual disability syndrome characterized by a recurrent facial gestalt, neurocognitive and behavioral abnormalities, and an increased risk for congenital anomalies and hyperparathyroidism.