BACKGROUND: The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected individuals and their parents perceive and adapt to the diagnosis. The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences.
METHODS: We conducted an integrative literature review using PubMed, Web of Science and CINAHL employing keywords \"genetic diagnosis delivery,\" \"genetic diagnosis disclosure,\" \"sex chromosome aneuploidy,\" \"Klinefelter syndrome\" or \"\"47, XXY,\" \"Jacob syndrome\" or \"47, XYY,\" \"Trisomy X,\" \"Triple X\" or \"47, XXX,\" and \"48 XXYY from January 1, 2000, to October 31, 2023.
RESULTS: Literature supports that patients and parents value the provision of up-to-date information and connection with supportive resources. Discussion of next steps of care, including relevant referrals, prevents perceptions of provider abandonment and commitment to ongoing support. Proactively addressing special concerns such as disclosing the diagnosis to their child, family, and community is also beneficial. Tables are provided for useful information resources, medical specialties that may be required to support patients, and common misconceptions that interfere with accurate information about the diagnosis.
CONCLUSIONS: Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood.

Neuroscience-based patient education has become an evidence-based strategy for enhancing chronic pain treatment. Advances in understanding the neuroscience of functional neurological disorder (FND) may allow similar approaches to be developed and disseminated to clinicians, given the public health need for greater provider awareness and expertise around the condition. Accordingly, the authors developed an online video module for clinicians that delivers neuroscience-based psychoeducation for FND and assessed whether the intervention would be associated with changes in clinicians\' perception of FND patients and knowledge about the condition. The online intervention consisted of a 20-minute video module, including an 8-minute scripted role-play that modeled neuroscience-informed diagnosis delivery. Pre- and postintervention questionnaires were embedded into the online module and included a self-assessment of FND-related perceptions and knowledge and a multiple-choice assessment of retention of the neuroscience-based content. Wilcoxon signed-rank tests and McNemar\'s tests were used for statistical analyses. Of the 103 individuals who submitted surveys, 40 participants provided a complete data set from before and after the intervention. Following the intervention, self-assessment items showed respondents had significantly greater comfort with diagnosis delivery and treatment options and decreased negative perception of FND patients. The percentage of correct responses on a multiple-choice assessment regarding the functional neuroanatomy of FND was significantly increased. In summary, the online neuroscience-based educational intervention was effective for increasing clinician knowledge about FND and comfort with diagnosis delivery and treatment options. Implementing web-based formats may be a viable and cost-effective approach to disseminating knowledge and basic clinical skills in the care of patients with FND.

UNASSIGNED: To describe and analyse the linguistic structure of audiological diagnoses for infants, to determine ways to optimise the delivery of diagnostic information to parents during this typically emotive time.
UNASSIGNED: This study analysed the linguistic structure of audio-recorded infant diagnostic appointments.
UNASSIGNED: Nine appointments conducted by four experienced paediatric audiologists were analysed.
UNASSIGNED: Diagnoses of normal hearing were delivered explicitly and in a straightforward manner. Positive aspects of this outcome were highlighted, and audiologists used the pronoun \"we,\" conveying a feeling of teamwork. In contrast, when a hearing loss was diagnosed, the diagnosis included disfluencies and the use of hedging, although positive aspects were also emphasised. In these cases, audiologists used the pronoun \"I,\" thereby taking ownership of the results. Differences in the topics raised by audiologists and parents highlighted a mis-match between the information provided and the information requested. Topics addressed by audiologists were primarily medical and procedural, whereas parents were concerned with causes, treatments and experiential information.
UNASSIGNED: The use of the above linguistic strategies may serve to minimise the significance and impact of the diagnosis. Whilst the data are unable to be generalised to other contexts, the study has generated in-depth and nuanced information about diagnosis delivery.

We describe the attitudes of child psychiatrists toward diagnosis delivery (DD) and explore potential stressful factors associated with the process. Eighty Israeli child psychiatrists completed a questionnaire on their perceptions of DD of schizophrenia, autism spectrum disorder (ASD), and attention deficit/hyperactivity disorder (ADHD). We also conducted semi-structured in-depth interviews with 12 child psychiatrists who were asked to share their personal experience with DD. The questionnaire responses revealed that child psychiatrists perceived schizophrenia and ADHD as the most and least severe disorders, respectively, and its treatment as being ineffective and effective, respectively. They expressed negative perceptions toward DD of schizophrenia and positive perceptions toward DD of ADHD. The results of linear regressions revealed that some factors predicted distress accompanying DD in all three diagnoses, such as lack of professional experience, negative perceptions of DD, and the effect of parents\' attitudes of opposition to the diagnosis. The interviews revealed that DD was often described by psychiatrists as an emotional experience and that the psychiatrists\' age, and whether the psychiatrists identified more with the child or the parent, affected their attitude toward DD. Lastly, the psychiatrists expressed feelings of loneliness in the procedure of DD and their wish to share and reflect on their experiences with others. These findings may contribute to a better understanding of the clinically important topic of DD in child psychiatry that has not been adequately addressed and help deal with psychiatrists\' challenges in this task.

OBJECTIVE: To identify communication cycles patients use to make sense of a diabetes diagnosis and barriers patients encounter in their sensemaking process.
METHODS: Researchers conducted interviews with 33 participants with type 2 diabetes mellitus or prediabetes at medical centers in Georgia and Nevada. A thematic analysis using the constant comparative method identified communication cycles.
RESULTS: Patients reported engaging three communication cycles to make sense of the diagnosis: (1) interacting with healthcare clinicians; (2) seeking information online; and (3) taking a nutrition/diabetes management class. Patients reported system-level barriers that impact sensemaking: (1) lack of consistent or routine care; and (2) lack of access to resources.
CONCLUSIONS: Results here reinforce the theoretical proposition that receiving a diagnosis is an equivocal process that requires patients to make sense of new information through communication cycles. Patients in this sample repeatedly described communication cycles to interpret this new information rather than relying on assembly rules. Clinicians can promote patient understanding of diabetes and self-management by taking time to explain the diagnosis, maintaining consistent care, providing guidance to online sources, and ensuring patients have access to diabetes education.