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The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have upended the field and offered fascinating new insights. Though difficult to predict the precise paths the field will follow, rapid change may continue to be inevitable. Within genetics, the practice of dysmorphology, as defined by pioneering geneticist David W. Smith in the 1960s as "the study of, or general subject of abnormal development of tissue form" has also been affected by technological advances as well as more general trends in biomedicine. To address possibilities, potential, and perils regarding the future of dysmorphology, a group of clinical geneticists, representing different career stages, areas of focus, and geographic regions, have contributed to this piece by providing insights about how the practice of dysmorphology will develop over the next several decades.

Training in emotion management is not a standard part of medical education. This study's objective was to understand physicians' challenges navigating emotion (their own and their patients') and identify areas for intervention to support physician wellness and enhance patient care.In 2019, we surveyed 103 physicians in emergency medicine, internal medicine, family medicine, and neurology. Participants quantitatively reported emotion training, emotions that were challenging, and barriers to addressing emotion. They provided qualitative examples of emotion challenges and successes that we analyzed using an inductive thematic analysis.There were no significant differences in responses by specialty. Only 10% reported receiving emotion management training, with no evidence that more recently trained physicians received more. Those who had received training on emotion reported greater comfort in dealing with patients' emotions and were more likely to engage in teaching on emotion. There were gender and career stage differences regarding which emotions physicians found most challenging. The authors identified central themes of emotion-related challenges and successes.Targeted educational initiatives are needed to advance physicians' ability to navigate emotion in clinical encounters.Developing strategies for managing patients' emotions may better prepare physicians for navigating the emotional demands of practicing medicine.

In Africa, refusal of COVID-19 and other vaccines is widespread for different reasons, including disbelief in the existence of the virus itself and faith in traditional remedies. In sub-Saharan countries, refusal is often made worse by opposition to vaccines by the religious establishments. This is a pressing problem, as Africa has the highest vaccine-avoidable mortality rate for children under the age of five in the world. Dialogue between those wishing to promote vaccines and those who resist them is essential if the situation is to be improved. This article argues that Western and other aid agencies seeking to promote vaccination programs need to develop a dialogue with resisters, and in this process to embrace and commend the ancient African philosophical tradition of Ubuntu, incorporating it into these programs as a way to overcome such entrenched resistance. The paper concludes with concrete recommendations for how to accomplish this goal.

The concept of empathy as it is used in scholarly discourse has been challenged for over 50 years, yet the same ambiguities and controversies associated with the concept persist and, indeed, have accelerated with the accumulation of definitions, subconstructs that are included under the empathy umbrella, and measuring instruments. In this article we address the following interrelated problems: many definitions, authors not offering definitions, authors using instruments that do not match their definitions, authors not specifying definitions and measurements in cited studies, the jingle-jangle problem, and the persistent need for more construct validity research. In this Special Issue on empathy and its problems, authors bring new theoretical insights, creative research designs, and a critical focus on the empathy concept itself.

Objectives To explore how physicians in neurology, family medicine, internal medicine, and emergency medicine characterize clinical empathy. Methods Physicians (N = 94) were asked to describe up to 10 examples of empathic physician behavior. Data were analyzed using template analysis. Results Physicians’ descriptions of clinical empathy patterned into three themes: Clinical Performance and Professionalism, Interpersonal Communication, and Clinician Orientation. Clinical Performance and Professionalism subthemes included physician competency and accessibility; intersection with institutional resources; and spending/making/taking time with patients. Interpersonal Communication subthemes involved information sharing; verbal and nonverbal approaches; interpersonal sensitivity; physician self-disclosure; and attention to emotion. Clinician Orientation encompassed general physician demeanor and internal thoughts and feelings that might be unobservable by patients. Physicians varied widely in the themes they mentioned in their definition of empathy. Conclusion Physicians hold diverse notions of clinical empathy. These extend beyond traditional affective and cognitive empathy definitions to include structural elements like team-based care and accessibility after hours. Communication behaviors were perceived as important for demonstrating empathy. Some physician descriptions of empathy may not be perceptible to patients. Practice Implications Training physicians to engage in behaviors that both they and patients perceive as empathic may lead to higher patient and physician satisfaction.

Psychology has long traditions of measuring the accuracy of judging personality and the accuracy of judging emotional states, but little theoretical progress has been made to connect these two processes that are so important in daily life. The State and Trait Accuracy Model (STAM) was designed to describe how accurate judgments of affective states might influence the accuracy of judgments of personality traits. Four studies (total N = 1484) tested the predictions of STAM that 1) accuracy of judging affect is positively related to accuracy of judging traits of the same target people, and 2) accuracy of affect judgments influences accuracy of trait judgments. Judges observed targets who had been recorded in situations of medium strength so that targets with different levels of traits would respond differently, and then provided judgments of affect and traits. Consistent support was found for the positive relation between affect accuracy, especially for positive emotions, and trait accuracy. Some support was also found for the causal connection from affect accuracy to trait accuracy, although this connection was not always in the expected direction. Results from this type of research enhance understanding of the process of judgments of affect and traits, and could be used to design effective methods for increasing the accuracy of judgments of others.

Strong associations between neural tube defects (NTDs) and monozygotic (MZ) twinning have long been noted, and it has been suggested that NTD cases who do not present as MZ twins may be the survivors of MZ twinning events. We have recently shown that MZ twins carry a strong, distinctive DNA methylation signature and have developed an algorithm based on genomewide DNA methylation array data that distinguishes MZ twins from dizygotic twins and other relatives at well above chance level. We have applied this algorithm to published methylation data from five fetal tissues (placental chorionic villi, kidney, spinal cord, brain and muscle) collected from spina bifida cases (n = 22), anencephalic cases (n = 15) and controls (n = 19). We see no difference in signature between cases and controls, providing no support for a common etiological role of MZ twinning in NTDs. The strong associations therefore continue to await elucidation.

The term "empathy" is popular, yet fuzzy. How laypeople define it has not been investigated. In Study 1, we analyzed 99 participants' free narratives describing their personal definition, and in Study 1 (N = 191) and Study 2 (N = 351), we asked participants to rate a list of specific behaviors and tendencies for how well each one matched their personal definition. Out of 10 coded components, perspective taking was mentioned most often and personal distress (anxious reactivity in emotional situations) was never mentioned. Item ratings revealed four Empathy Concept factors: Prosocial Emotional Response, Interpersonal Perceptiveness, Other Perspective, and Anxious Reactivity. Other Perspective and Prosocial Emotional Response were most highly endorsed while Anxious Reactivity showed the lowest endorsement. Individuals varied widely in their endorsements of the factors. These results demonstrate that laypeople hold a multifactorial set of definitions of empathy and differ widely from one another in which ones they endorse.

Clinical Medicine is an Art which is learned, together with hard work, as an apprentice-observing how a master works, and improving with experience and exposure. Clinicians are performing multiple things at the same time-trying to make a diagnosis, providing best therapies and preventative strategies, and looking for the underlying mechanism(s). Families want to know what to expect over time-the natural history of their disorder. Rare disease networks and parent support groups are helping in this effort. Information technologies and international collaborative efforts are changing the way clinical genetics is provided.

Monozygotic (MZ) twins ("identical twins") are essentially unique to human beings. Why and how they arise is not known. This article reviews the possible different types of MZ twinning recognized in the previous article on twins and arthrogryposis. There appear to be at least three subgroups of MZ twinning: spontaneous, familial, and those related to artificial reproductive technologies. Each is likely to have different etiologies and different secondary findings. Spontaneous MZ twinning may relate to "overripe ova." Amyoplasia, a specific nongenetic form of arthrogryposis, appears to occur in spontaneous MZ twinning and may be related to twin-twin transfusion.

Amyoplasia is a very specific, nongenetic clinically recognizable form of arthrogryposis, representing about one-third of individuals with arthrogryposis surviving the newborn period. There is a markedly increased number of individuals with Amyoplasia who are one of monozygotic (MZ) twins, with the other twin being normal. Thus, it would appear that Amyoplasia is definitely associated with and may be caused by an MZ twinning event. The twin-twin transfusion seen in MZ twins could play an etiologic role in producing Amyoplasia. In this article, Amyoplasia twinning is compared to twinning in other forms of arthrogryposis. The accompanying paper examines various types of MZ twinning (Hall, 2021). Amyoplasia is primarily associated with spontaneous MZ twinning.

Conceptual flaws can undermine even rigorous test development efforts, especially in the broad empathy and social cognition domains, which are characterized by measure proliferation and inconsistently used construct terms. We discuss these issues, focusing on a new instrument of "mentalizing" as a case study. Across several studies, Clutterbuck et al. (2021a) developed the Four-Item Mentalising Index (FIMI). They described it as the first self-report measure of mentalizing ability and suggested that it offers substantial advances for research and assessment. As we demonstrate with conceptual arguments and empirical data, the FIMI embodies several major problems that are common in this area of research. Using the FIMI as a case study, we underline the importance for test developers of attending to the nonnegotiable necessity of discriminant validity analyses, the challenge of choosing appropriate convergent validity measures, and the difficulties of navigating the jingle-jangle jungle of empathy and social cognition construct terms. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Thin slices, or excerpts of behavior, are commonly used by researchers to represent behaviors in their full stimulus. The present study asked how slices of different lengths and locations, as well as different measurement methodologies, influence correlations between the measured behavior and different variables (predictive validity). We collected self-rated, perceiver-rated, and objectively measured data on 60 participants who participated in a 5-min interaction with a confederate on video. These videos were split into five 1-min slices and rated for verbal and nonverbal behaviors via global impressions, using the same rater for all five slices and also using a different rater for each slice. For single slices, results indicated no clear pattern for optimal slice locations. In general, single slices had weaker predictive validity than the total. Slices of 2 or 3 min were, in general, equal to 5-min total in predictive validity. The magnitude of correlations was similar when same versus different coders were used, and the predictive validity correlations of the two methods covaried strongly across behavior-outcome variable combinations.

Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of embryonic malformations" (RCEM). All are characterized by an excess of reported monozygotic discordant twins and lack of familial recurrence. We performed a comprehensive review of published twin data across all six phenotypes to allow a more robust assessment of the association with twinning and potential embryologic timing of a disruptive event. We recorded the type of twinning, any overlapping features of another RCEM, maternal characteristics, and the use of ART. Statistically significant associations included an excess of monozygotic twins and 80% discordance rate for the phenotype across all twins. There was an 18.5% rate of ART and no consistently reported maternal adverse events during pregnancy. We found 24 instances of co-occurrence of two RCEM, suggesting a shared pathogenesis across all RCEM phenotypes. We hypothesize the following timing for RCEM phenotypes from the earliest perturbation in development to the latest: LBWC, POC, OEIS, VACTERL, OAVS, then MURCS. The RCEM group of conditions should be considered a spectrum that could be studied as a group.

Studies assigning impression goals to achieve in the laboratory typically assume their results translate to social success outside. To test this, 156 participants interacted with a confederate, fir...

SummaryBackgroundUnderstanding the effects of anaesthetic drugs on cortical oscillations can help to elucidate the mechanistic link between receptor physiology and their clinical effects. Propofol produces divergent effects on visual cortical activity: increasing induced gamma-band responses (GBR) while decreasing stimulus-onset-evoked responses) 1. Dexmedetomidine, an α2-adrenergic agonist, differs from GABA-ergic sedatives both mechanistically and clinically as it allows easy arousability from deeper sedation with less cognitive side-effects. Here we use magnetoencephalography (MEG) to characterize and compare the effects of GABAergic (propofol) and non-GABA-ergic (dexmedetomidine) sedation, on visual and motor cortical oscillations.MethodsSixteen male participants received target-controlled infusions of propofol and dexmedetomidine, producing mild-sedation, in a placebo-controlled, cross-over study. MEG data was collected during a combined visual and motor task.ResultsThe key findings were that propofol significantly enhanced visual stimulus induced GBR (44% increase in amplitude) while dexmedetomidine decreased it (40%). Propofol also decreased the amplitudes of the M100 (27%) and M150 (52%) evoked responses, whilst dexmedetomidine had no effect on these. During the motor task, neither drug had any significant effect on motor GBR or movement related beta de-synchronisation (MRBD). However, dexmedetomidine increased (92%) post-movement beta synchronisation/rebound (PMBR) power while propofol reduced it (70%).ConclusionsDexmedetomidine and propofol, at equi-sedative doses, have contrasting effects on visual stimulus induced GBR, visual evoked responses and PMBR. These findings provide a mechanistic link between the known receptor physiology of these sedative drugs and their known clinical effects and may be used to explore mechanisms of other anaesthetic drugs on human consciousness.

Immunoglobulin IgM is important for controlling viral and bacterial infections, and low immunoglobulin levels have been found in sepsis. There is a clear need to stratify sepsis patients according to the presence of an invading organism, compared to no organism identified, and SIRS patients, where organ dysfunction is a result of a non-infective process. The aim of this pilot study in a small cohort of patients with sepsis was to evaluate the association between IgM plasma levels and survival in 47 patients with sepsis and 11 patients diagnosed with organ failure without the identification of a pathogen (SIRS). Patients were admitted to the intensive care unit (ICU) at The Royal Glamorgan Hospital, Llantrisant, UK between 2010 and 2014. We found that low IgM levels were associated with sepsis, but not SIRS. IgM levels did not differ significantly for culture-positive (CP) compared with culture-negative (CN, no organism found) sepsis samples. Kaplan–Meier analysis was used to compare survival curves according to IgM levels, with no significant difference. We observed significantly higher survival in the CP samples when comparing with CN. Cut-off value for IgM (266 μg/mL) for diagnosis of sepsis patients was determined using receiver operator characteristic (ROC) curves with 70% sensitivity, 69% specificity and 92% negative predictive values (NPV), respectively. The corresponding area under the curve (AUC) for the discrimination of sepsis patients was AUC = 0.73, and in a subgroup analysis of CP was AUC = 0.77 and for CN was AUC = 0.79. We confirm IgM as a good diagnostic marker of sepsis. These findings indicate a difference in the pathology between culture-positive versus negative sepsis, SIRS and survival. This indicates that IgM is likely relevant to pathology, because of its role in the early immune response against pathogens, the potentially protective role of natural IgM antibodies, and supports its application in immunoglobulin therapy.

Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). The MCD group included 37/39 (95%) with polymicrogyria (PMG), 8/39 (21%) with pia-ependymal clefts (schizencephaly), and 15/39 (38%) with periventricular nodular heterotopia (PNH) including 2 with PNH but not PMG. Cerebellar malformations were found in 19 individuals including 13 with a cerebellar malformation only and another 6 with cerebellar malformation and MCD. The pattern varied from diffuse cerebellar hypoplasia to classic Dandy-Walker malformation. Brain disruptions were seen in 11 individuals with hydranencephaly, porencephaly, or white matter loss without cysts. Our series included an expected statistically significant excess of monozygotic (MZ) twin pairs (22/41 MZ, 54%) compared to population data (482/1448 MZ, 33.3%; p = .0110), and an unexpected statistically significant excess of dizygotic (DZ) twins (19/41, 46%) compared to the literature cohort (1/46 DZ, 2%; p < .0001. Recurrent association with twin-twin transfusion syndrome, intrauterine growth retardation, and other prenatal factors support disruption of vascular perfusion as the most likely unifying cause.

Zuckerman et al. (2013) conducted a meta-analysis of 63 studies that showed a negative intelligence–religiosity relation (IRR). As more studies have become available and because some of Zuckerman et al.’s (2013) conclusions have been challenged, we conducted a new meta-analysis with an updated data set of 83 studies. Confirming previous conclusions, the new analysis showed that the correlation between intelligence and religious beliefs in college and noncollege samples ranged from −.20 to −.23. There was no support for mediation of the IRR by education but there was support for partial mediation by analytic cognitive style. Thus, one possible interpretation for the IRR is that intelligent people are more likely to use analytic style (i.e., approach problems more rationally). An alternative (and less interesting) reason for the mediation is that tests of both intelligence and analytic style assess cognitive ability. Additional empirical and theoretical work is needed to resolve this issue.

The concept of political skill has been extensively studied in work and professional life but not yet in social life. To study how political skill relates to social life outcomes, participants engaged in a videotaped interaction in the laboratory that was rated for likeability and intelligence by naive perceivers and coded for behavior by trained coders. Participants also took the Political Skill Scale (PSI; Ferris et al., 2005) (with workplace references removed) and other personality questionnaires. Finally, ratings from participants' friends were gathered. Political skill was related to self-rated social life quality, perceiver-rated likeability, and friend-rated positive sociality. When controlling for extraversion, self-monitoring, and social self-efficacy, all relations stayed significant except ones with self-rated social life quality. Results were strongest for the PSI's subscales for networking ability and interpersonal influence. Sounding confident and initiating topics mediated relations between political skill and perceiver ratings.

Arthrogryposis multiplex congenita (AMC) describes disorders with multiple joint contractures that arise from neurological, neuromuscular, or mechanical origin. Although impaired fetal movement is the typical clinical presentation, the etiology underlying this phenotype for a number of conditions remains unknown. In an effort to better characterize and define the etiologies underlying these disorders, we recommend a standardized autopsy protocol that will allow for appropriate diagnosis and a methodical approach for examination that will facilitate subsequent study by investigators across disciplines. To further support investigation, we have also established an AMC autopsy registry to bank tissue obtained at autopsy for subsequent study.

In 2016, we published an article applying Gene Ontology Analysis to the genes that had been reported to be associated with arthrogryposis (multiple congenital contractures) (Hall & Kiefer, 2016). At that time, 320 genes had been reported to have mutations associated with arthrogryposis. All were associated with decreased fetal movement. These 320 genes were analyzed by biological process and cellular component categories, and yielded 22 distinct groupings. Since that time, another 82 additional genes have been reported, now totaling 402 genes, which when mutated, are associated with arthrogryposis (arthrogryposis multiplex congenita). So, we decided to update the analysis in order to stimulate further research and possible treatment. Now, 29 groupings can be identified, but only 19 groups have more than one gene.

A pediatric registry for arthrogryposis multiplex congenita (AMC) proposes to advance research by providing the platform to inform the distribution, etiology, and natural history of AMC. The registry was piloted on 40 families of children (mean = 8.25 years, 48% males) presenting with AMC across two hospitals in North America. Data on the child's demographic and newborn variables, mothers' and fathers' demographic variables, lifestyle habits, and medical history were collected using a telephone interview with the primary caregiver and review of medical charts. Mean gestational age was 38 weeks, 97% of children presented with lower extremity deformities, and 74% of neonatal interventions targeted the lower extremity. Newborns spent an average of 14 days in the hospital (range 2-56 days) mostly for diagnostic workup and feeding difficulties. Half (49%) of the sample had internal organ involvement. Genetic testing was done on 48% of the children, including chromosome studies, single gene, whole-exome/genome sequencing, and/or microarray studies. Genetic findings were inconclusive in most. Two-thirds of mothers (67%) reported inconsistently feeling fetal movements. This pilot study contributed to the refinement of participant selection, identification of data source, expansion of data sets, and areas for future exploration prior to the implementation of a multisite AMC pediatric registry.

Perhaps the most dramatic position of a newborn after delivery is when there is hyperextension of the neck and spine. It will have been presented in utero and today, almost always, such babies will have been delivered by C-section. The associated anomalies are variable. The process(es) that can lead to cervical hyperextension is/are largely unknown. The outcome is variable from lethal to completely resolve. Individuals with arthrogryposis and in particular with Amyoplasia appear to have an increased frequency of neck, cervical, and spine hyperextension at birth. We present here 41 cases of arthrogryposis (mainly Amyoplasia) with fetal cervical hyperextension. The outlook is surprisingly good if spinal cord trauma does not occur. Ultrasound late in pregnancy when arthrogryposis is recognized prenatally should determine whether cervical hyperextension has developed, so that appropriate preventive measures can be taken.

Antenatal identification of fetuses with multiple congenital contractures or arthrogryposis multiplex congenita (AMC) may be challenging. The first clinical sign is often reduced fetal movement and/or contractures, as seen on prenatal ultrasounds. This can be apparent at any point, from early to late pregnancy, may range from mild to severe involvement, with or without associated other structural anomalies. Possible etiologies and their prognosis need to be interpreted with respect to developmental timing. The etiology of AMC is highly heterogeneous and making the specific diagnosis will guide prognosis, counseling and prenatal and perinatal management. Current ultrasound practice identifies only approximately 25% of individuals with arthrogryposis prenatally before 24 weeks of pregnancy in a general obstetrics care population. There are currently no studies and guidelines that address the question of when and how to assess for fetal contractures and movements during pregnancy. The failure to identify fetuses with arthrogryposis before 24 weeks of pregnancy means that physicians and families are denied reproductive options and interventions that may improve outcome. We review current practice and recommend adjusting the current prenatal imaging and genetic diagnostic strategies to achieve early prenatal detection and etiologic diagnosis. We suggest exploring options for in utero therapy to increase fetal movement for ongoing pregnancies.

Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in‐depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus‐based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.

Accurate social perception depends on many factors, including the extent to which perceivers hold correct beliefs about how behaviors reflect the characteristic being judged. In Study 1, target par...

Fetal movement is essential to normal human development. If the fetus does not move for whatever reason, then multiple organs and organ systems develop secondary and tertiary effects not normally present. Most of these are deformations with secondary structural damage.