Are there gender-based variations in the presentation of Autism amongst female and male children?

The Questionnaire for Autism Spectrum Conditions (Q-ASC; Attwood, Garnett & Rynkiewicz, 2011) is one of the few screening instruments that includes items designed to assess female-specific ASD-Level 1 traits. This study examined the ability of a modified version of the Q-ASC (Q-ASC-M; Ormond et al., 2018) to differentiate children with and without ASD-Level 1. Participants included 111 parents of autistic children and 212 parents of neurotypical children (5-12 years). Results suggested that the gendered behaviour, sensory sensitivity, compliant behaviours, imagination, and imitation subscales differentiated autistic females from neurotypical females. Compared to autistic males, autistic females had higher scores on gendered behaviour, sensory sensitivity, social masking, and imitation. Results are discussed in relation to early detection of autistic female children.

Are Mental Health and Substance Use Disorders Risk Factors for Missed Acute Myocardial Infarction Diagnoses Among Chest Pain or Dyspnea Encounters in the Emergency Department?

STUDY OBJECTIVE: To assess if having a mental health and/or substance use disorder is associated with a missed acute myocardial infarction diagnosis in the emergency department (ED). METHODS: This was a retrospective cohort analysis (2009 to 2017) of adult ED encounters at Kaiser Permanente Southern California. We used the validated symptom-disease pair analysis of diagnostic error methodological approach to "look back" and "look forward" and identify missed acute myocardial infarctions within 30 days of a treat-and-release ED visit. We use adjusted logistic regression to report the odds of missed acute myocardial infarction among patients with a history of mental health and/or substance use disorders. RESULTS: The look-back analysis identified 44,473 acute myocardial infarction hospital encounters; 574 (1.3%) diagnoses were missed. The odds of missed diagnoses were higher in patients with mental health disorders (odds ratio [OR] 1.48, 95% confidence interval [CI] 1.23 to 1.77) but not in those with substance abuse disorders (OR 1.22, 95% CI 0.91 to 1.62). The highest risk was observed in those with co-occurring disorders (OR 1.90, 95% CI 1.30 to 2.76). The look-forward analysis identified 325,088 chest pain/dyspnea ED encounters; 508 (0.2%) were missed acute myocardial infarctions. No significant associations of missed acute myocardial infarction were revealed in either group (mental health disorder: OR 0.92, 95% CI 0.71 to 1.18; substance use disorder: OR 1.22, 95% CI 0.80 to 1.85). CONCLUSION: The look-back analysis identified patients with mental illness at increased risk of missed acute myocardial infarction diagnosis, with the highest risk observed in those with a history of comorbid substance abuse. Having substance use disorders alone did not increase this risk in either cohort. The look-forward analysis revealed challenges in prospectively identifying high-risk patients to target for improvement.

Situating trade-offs: Stakeholder perspectives on overtreatment versus missed diagnosis in transition to Xpert MTB/RIF Ultra in Kenya and Swaziland.

Implementing new diagnostics in public health programs can involve difficult trade-off decisions between individual patient benefits and public health considerations. Such decision-making processes are often not documented and may not include engagement of affected communities. This paper examines the perspectives of stakeholders on the trade-off between over-treatment and missed diagnosis captured during decision-making workshops on the transition from use of Xpert MTB/RIF to diagnose tuberculosis to Xpert MTB/RIF Ultra in Kenya and Swaziland. Xpert MTB/RIF Ultra has an overall increase in sensitivity but a decrease in specificity when compared to its predecessor. We conducted a qualitative study using four focus group discussions with a total of 47 participants and non-participant observation. The analysis reveals how participants deemed Xpert MTB/RIF Ultra's reduced specificity vis-à-vis its increased sensitivity to be an acceptable trade-off. The way participants assessed this trade-off was shaped by their experiences with the general uncertainty of all diagnostic tests, alternative testing options, historical evolution of diagnostic practices, epidemiological factors and resource constraints. In assessing the trade-off community and individual benefit and harm was frequently discussed together. Qualitative research on stakeholder engagement activities for diagnostic development and implementation can identify everyday experiences and situate assessments and perspectives of key stakeholders and as such aid in decision-making, improving implementation as well as patient outcomes. Further research is needed on the intended and unintended consequences of such engagement activities, how findings are being incorporated by decision-makers, and the impact on programmatic implementation.

The Cavan-Monaghan First Episode Psychosis Study (CAMFEPS): arbitrary diagnostic boundaries across the gene-environment interface and within evolving models of care.

As research into psychotic illness evolves along established lines, insights are emerging that deviate from those lines and challenge more fundamentally our understanding. On the background of a new generation of studies on first-episode psychosis, investigations across the gene-environment interface and the intersection with 'normal' human mentation heighten these concerns. Using findings from the Cavan-Monaghan First Episode Psychosis Study (CAMFEPS) as an exemplar, we here review the complexity of these challenges from the perspective of this real-world setting. They range from trans-diagnostic epidemiology and clinical characterisation, through molecular genetics, social milieu, developmental pathobiology and functional outcome across arbitrary diagnostic boundaries, to the evidence base for early intervention and more radical conceptualisations and structures for provision of mental health care.