Familial Transmission Research Articles

The role of bipolar polygenic risk score in the familial transmission of bipolar disorder-An updated analysis.

The role of bipolar polygenic risk score in the familial transmission of bipolar disorder-An updated analysis.

Shapes of subcortical structures in adolescents with and without familial history of substance use disorder.

It has been suggested that intergenerational transmission of risk for substance use disorder (SUD) manifests in the brain anatomy of substance naïve adolescents. While volume and shapes of subcortical structures (SSS) have been shown to be heritable, these structures, especially the pallidum, putamen, nucleus accumbens, and hippocampus, have also been associated with substance use disorders. However, it is not clear if those anatomical differences precede substance use or are the result of that use. Therefore, we examined if volume and SSS of adolescents with a family history (FH+) of SUD differed from adolescents without such a history (FH−). Because risk for SUD is associated with anxiety and impulsivity, we also examined correlations between these psychological characteristics and volume/SSS. Using structural MRI and FSL software, we segmented subcortical structures and obtained indices of SSS and volumes of 64 FH+ and 58 FH− adolescents. We examined group differences in volume and SSS, and the correlations between volume/SSS and trait anxiety and impulsivity. FH+ adolescents had a significant inward deformation in the shape of the right anterior hippocampus compared to FH− adolescents, while the volume of this structure did not differ between groups. Neither shape nor volume of the other subcortical structures differed between groups. In the FH+ adolescents, the left hippocampus shape was positively correlated with both trait anxiety and impulsivity, while in FH− adolescents a negative correlation pattern of SSS was seen in the hippocampus. SSS appears to capture local anatomical features that traditional volumetric analysis does not. The inward shape deformation in the right anterior hippocampus in FH+ adolescents may be related to the known increased risk for behavioral dysregulation leading to SUD in FH+ offspring. Hippocampus shape also exhibits opposite patterns of correlation with anxiety and impulsivity scores across the FH+ and FH− adolescents. These novel findings may reveal neural correlates, not captured by traditional volumetric analysis, of familial transmission of increased vulnerability to SUD.

«We Are Alone»: Intergenerational Religious Transmission and the Effect of Migration in Italy

Although research shows a general decrease in religiosity in Western societies, religious transmission still seems to be a poorly studied phenomenon, especially in Italy. We do not know much about the dynamics of socialisation that take place in the family and the main factors that determine the success or failure of religious transmission from one generation to the next. Yet, the family context represents the first agency of socialisation to religion, from an early age, through experiences with parents, grandparents and relatives. On the other hand, in the age of religious diversification, the migration factor is becoming increasingly crucial for national religious landscapes. Nevertheless, religious transmission in foreign families and the impact of migration on family religiosity are still little studied. This contribution presents some research perspectives that have emerged from a wide-ranging survey, still in progress, on intergenerational transmission of religion in Catholic, Muslim and Orthodox families in Italy.

Associations between maternal eating behaviors and feeding practices in toddlerhood

Few studies have examined the associations between parents' own eating behaviors and their feeding practices. We aimed to study the associations between maternal eating behaviors and feeding practices in toddlerhood. In this cross-sectional analysis, maternal eating behaviors and feeding practices were assessed at 2-year follow-up by using the Three-Factor Eating Questionnaire (TFEQ-R21) and the Comprehensive Feeding Practices Questionnaire (CFPQ), respectively, among mothers of 1322 children from the EDEN mother-child cohort. Depending on their distributions, scores from the two questionnaires were considered continuous or binary variables, according to the median. Linear or logistic regression models were used as appropriate to assess the associations between maternal eating behaviors, considered simultaneously in a combined model, and their feeding practices. Maternal cognitive restraint was positively associated with maternal restriction for health and restriction for weight. Maternal uncontrolled eating was positively associated with pressure to eat and use of food to regulate the child's emotions. Maternal uncontrolled eating was also negatively associated with restriction for weight, but only among boys. This study supports that mothers' own eating behaviors are associated with their feeding practices in toddlerhood. Further studies are needed to understand the role of parental feeding practices in the familial transmission of eating behavior.

Transgenerational concordance in parent-to-child transmission of suicidal behaviour: a retrospective, nationwide, register-based cohort study of 4 419 642 individuals in Denmark

Suicidal behaviour runs in families, but the nature of transgenerational concordance needs elucidation. The aim of this study was to examine parent-to-child transmission by investigating whether presence and nature of parental suicidal behaviour was associated with suicidal behaviour in children. We did a retrospective, nationwide, register-based cohort study in Demark using register data. We included all individuals born after 1953 who were 10 years or older and who were recorded as living in Denmark at some point between Jan 1, 1980, and Dec 31, 2016. Adults listed as living with their child at first registration in the Civil Registration System were considered as parents; later records of different legal parents allowed identification of potential step-parents. Self-reported ethnicity data were not available. Exposure to parental suicide attempt and suicide was identified using information from hospital contacts and causes of death from national registers. The examined outcomes were suicide attempt and death by suicide. We calculated incidence rate ratios (IRRs) and cumulative hazards for children's suicide attempt and suicide, taking into account type of parental suicidal behaviour, child's age of exposure, and sex. In total, 4 419 642 individuals aged 10-63 years were observed during 1980-2016. Of these individuals, 150 222 (3·4%) were exposed to one or more parents with a suicide attempt, 31 564 (0·7%) to at least one parent who died by suicide, and 12 834 (0·3%) to both events. Individuals exposed to parental suicide attempt had higher rates of suicide attempt (IRR 2·72 [95% CI 2·33-3·17]) than individuals exposed to parental suicide (1·77 [1·50-2·09]) when compared with unexposed individuals. Higher rates of suicide were found for individuals exposed to parental suicide (IRR 3·18 [95% CI 2·84-3·58]) than for those exposed to parental suicide attempt (2·37 [2·19-2·57]). The cumulative hazard of suicide attempt was 0·07 for individuals exposed to parental suicide attempt, and the cumulative hazard of suicide was 0·009 for individuals exposed to parental suicide. Individuals exposed to parental suicide had higher odds of violent suicidal methods than those exposed to suicide attempt alone (odds ratio 2·0 [95% CI 1·7-2·3]). A concordant pattern of higher rates of the same type of suicidal behaviour as the one of the parents was observed, including type of suicide method. Preventive, family-oriented interventions are warranted to mitigate familial transmission of risk, as are clinical considerations of familial exposure in risk assessment of patients. Mental Health Services, Capital Region of Denmark.

Diagnosis of disruptive mood dysregulation disorder in offsprings of bipolar parents

BackgroundDisruptive mood dysregulation disorder (DMDD) was introduced in (DSM-5) as a new diagnostic category to get control on the exaggerated diagnosis of bipolar disorder in children and adolescents which was elevated more than 40 times in the last decade. Few studies were done recently to explore the role of family history of bipolar disorder in the occurrence of DMDD in children and adolescents. Unfortunately, there is limited number of studies about the familial transmission of DMDD.The aim of this study is to examine the presence of a relation between DMDD and the presence of a family history of bipolar disorder through comparing the diagnosis of DMDD in offspring of parents with (a) bipolar disorder and (b) a control group.ResultsThe distribution of psychiatric disorders among the studied groups highlighted that DMDD and depressive disorder are significantly present in the offsprings of bipolar parents more than in the offsprings of control parents. DMDD is significantly present among offsprings of bipolar parents aged ≤ 11 years old (p = 0.008*). Also, DMDD is significantly (p = 0.02) present among male offsprings of bipolar parents. Also, depressive disorder is significantly (p = 0.002) present among female offsprings of control parents. While significant comorbidity between DMDD and depressive disorders (p = 0.018*) was detected.ConclusionsThis study revealed that DMDD and depressive disorders are significantly present in the offsprings of bipolar parents higher than in the offsprings of control parents. DMDD is significantly present among the offsprings of bipolar parents aged ≤ 11 years old.The relation between sex and affective disorders among the offsprings was also assessed revealing that DMDD is significantly present among male offsprings of bipolar parents. Also, depressive disorders are significantly present among female offsprings of control parents.Potential implicationsThis study has several clinical implications. This study draws attention to the importance of the careful assessment of the offsprings of bipolar patients to check the presence of different childhood psychiatric disorders such as DMDD. Also, symptoms of temper outbursts and persistent irritability in childhood require the necessary of psychiatric evaluation not only for the patients but also for their families. In addition, this study highlights the need for accurate updated diagnostic instruments to differentiate between these overlapping symptoms.As regards implications for future research, following-up of children diagnosed with DMDD to recognize the prognostic outcome of this new diagnostic category is necessary.

Familial transmission of attention allocation towards one's own and a peer's body: An eye-tracking study with male adolescents and their fathers.

Previous research provides evidence of maternally transmitted body-related attentional biases in female adolescents. In contrast, it remains unclear whether a familial transmission of body-related attentional biases also exists within father-son dyads. Therefore, the current study examined n = 42 male adolescents and their fathers with respect to direct and indirect paternal influences on body-related attention patterns and specific body-related concerns in sons. Besides completing specific body image questionnaires, participants were shown pictures of their own and a respective peer’s body, while their eye movements were tracked. The fathers additionally viewed the body pictures of their own son and an adolescent peer. Contrary to the assumed direct and indirect paternal transmission processes, the sons’ body-related attention patterns were not significantly associated with the perceived amount of paternal body-related feedback, with the fathers’ attention patterns towards their own son’s and the adolescent peer’s body, or with the fathers’ attention patterns towards their own and the adult peer’s body. Similarly, no significant associations were found between direct or indirect paternal influences and the sons’ drives for muscularity and thinness, body dissatisfaction, and muscularity-related body-checking behavior. Comparing the present findings with previous research indicating a maternal transmission of body-related attentional biases and body-related concerns in female adolescents, alternative (not gender-linked) familial transmission processes, e.g., via one’s own mother, or a comparatively higher relevance of other sociocultural influences, e.g., via peers or the media, might be assumed for male adolescents.

Intergenerational transmission of values in the modern multicultural world

Introduction. The problem of the digital divide between different generations and the aggravation of intergenerational relations was one of the most debated in modern science. The key question is how modern social institutions (family, educational system) ensure the socialisation of the child in a new social situation of development, the transfer of cultural experience in the modern digital world. The urgency of the problem is heightened by the fact that in ethnically homogeneous regions of the Russian Federation, the strategies to transfer traditional values and cultural practices of a collectivist orientation to the younger generation are being maintained, contrary to the “model of desired future” with the successful autonomous behaviour of a sovereign person proposed by the new reality.Aim. The current research aims to explore the socio-psychological patterns of the value transmission in modern families from ethnically homogeneous regions. The study involved representatives of the autochthonous peoples of the Kama region (Udmurts, Komi-Permyaks, Tatars, Bashkirs, Russians) of the older generation – mothers (N = 173, average age 41.4), the younger generation – adolescents (N = 218; average age 14.5, 52.8% females).Methodology and research methods. The theoretical and methodological framework of the research is based on the theory of cultural value orientations, which determine the ways to solve basic problems in regulating human activity (S. Schwartz); the concept of ecological systems explaining the processes of value transmission in the interaction of a child with the outside world (U. Bronfenbrenner). To test the theoretical model, the Structural Equation Modelling method was used. To measure cultural values, a questionnaire for diagnosing cultural values constructed by S. Schwartz in the adaptation of V. N. Karandashev was used; to measure mother-to-child relations, the authors used the questionnaire “Child-Parental Relations of Adolescents” by O. A. Karabanova and P. V. Troyanovskaya; the features of intergenerational interaction in the family (mother-to-child) was studied using the questionnaire “Parent’s Interaction with a Child” by I. M. Markovskaya in two versions – for adolescents and mothers.Results. On the territory of the Russian Federation, stable patterns of value transmission based on traditional collectivist orientations, are preserved. Benevolence (kindness) holds its priority in the hierarchy of values and becomes a significant predictor of intergenerational interaction. At the same time, adolescents are transmitted with active patterns of behaviour to expand their opportunities to enter a world of fierce competition with growing uncertainty and high risks. The identified “clashes” in intergenerational interaction are explained by age patterns in the relationship between parents and adolescent children.Scientific novelty. The obtained results indicate a peculiar integration of collectivist values-goals and individualistic values-means among representatives of the autochthonous peoples of Russia. Models of the intergenerational transmission of values of mothers and adolescents have been constructed and explained revealing the patterns of the transfer of cultural experience in multicultural regions of the Russian Federation.Theoretical significance of the obtained results lies in the possibility of expanding the existing knowledge about the features of the digital generation socialisation in the context of traditional inculturation, about the transformation of the social situation of the development of a growing person in the focus of a new reality and the possibility of interaction between generations of “different worlds”.Practical significance of the acquired knowledge is revealed in the possibility of using it for constructing modern concepts of education and development of psychological and pedagogical technologies for socialising a growing person in the context of epoch-making trends.

Role of Polygenic Risk Score in the Familial Transmission of Bipolar Disorder in Youth

Establishing genetic contributions to the transmission of bipolar disorder (BD) from parents to offspring may inform the risk of developing this disorder and further serve to validate BD in youth. To evaluate the specific association of BD polygenic risk scores (PRSs) on the familial transmission and validity of pediatric BD. This community-based case-control longitudinal study (Pittsburgh Biological Offspring Study) included parents with BD I/II and their offspring and parents without BD (healthy or non-BD psychopathology) and their offspring. Participants were recruited between March 2001 and May 2007, and analysis took place from December 2020 to September 2021. PRSs for BD, major depressive disorder, schizophrenia, and attention-deficit/hyperactivity disorder. Participants were prospectively evaluated using standardized interviews blind to parental diagnosis. DNA was extracted from saliva and genotyped. PRSs were constructed based on independent large-scale genome-wide association studies. A total of 156 parents with BD I/II and 180 parents without BD (mean [SD] age, 39.6 [7.9] years; 241 female [72%]) as well as 251 offspring of parents with BD and 158 offspring of parents without BD (mean [SD] age, 10.4 [4.7] years; 213 female [52%]) of European ancestry were analyzed. Participants were assessed a mean of 6.7 times during a mean (SD) of 13 (3.4) years of follow-up (84% retention). More offspring of parents with BD developed BD (58 [23.1%] vs 8 [5.1%]; P < .001) and depression (126 [50.2%] vs 52 [32.9%]; P < .001) compared with offspring of parents without BD. BD PRS was higher in both parents and offspring with BD than parents and offspring without BD (parents: odds ratio, 1.50; 95% CI, 1.19-1.89; P < .001; explained 4.8% of the phenotypic variance vs offspring: hazard ratio, 1.34; 95% CI, 1.03-1.7; P = .02; explained 5.0% of the phenotypic variance). BD PRS did not differ across BD subtypes. In a model combining parental and offspring BD PRS, the parental BD PRS association with offspring BD was fully mediated by offspring BD PRS (hazard ratio, 1.40; 95% CI, 1.05-1.86; P = .02). Parental BD had a stronger direct association than parental or offspring BD PRS with offspring BD risk (hazard ratio, 5.21; 95% CI, 1.86-14.62; P = .002), explaining 30% of the variance. Parental and offspring BD PRS explained 6% of the BD onset variance beyond parental diagnosis. There were no significant between-group differences in PRSs for major depressive disorder, schizophrenia, and attention-deficit/hyperactivity disorder in parents or offspring and they were not significantly associated with BD onset. The findings of this study add to the extant clinical validation of BD in youth. Parental BD and offspring BD PRS independently associated with the risk of BD in offspring. Although this is promising, the association of BD PRS was relatively small and cannot be used alone to determine BD risk until further developments occur.

Parents' Decisions to Vaccinate Children against COVID-19: A Scoping Review.

Since 2019, the COVID-19 pandemic has resulted in sickness, hospitalizations, and deaths of the old and young and impacted global social and economy activities. Vaccination is one of the most important and efficient ways to protect against the COVID-19 virus. In a review of the literature on parents’ decisions to vaccinate their children, we found that widespread vaccination was hampered by vaccine hesitancy, especially for children who play an important role in the coronavirus transmission in both family and school. To analyze parent vaccination decision-making for children, our review of the literature on parent attitudes to vaccinating children, identified the objective and subjective influencing factors in their vaccination decision. We found that the median rate of parents vaccinating their children against COVID-19 was 59.3% (IQR 48.60~73.90%). The factors influencing parents’ attitudes towards child vaccination were heterogeneous, reflecting country-specific factors, but also displaying some similar trends across countries, such as the education level of parents. The leading reason in the child vaccination decision was to protect children, family and others; and the fear of side effects and safety was the most important reason in not vaccinating children. Our study informs government and health officials about appropriate vaccination policies and measures to improve the vaccination rate of children and makes specific recommendations on enhancing child vaccinate rates.

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.

Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the SCN5A protein. After performing an exhaustive family medical history, we found that this previously not described mutation segregated within the family. All relatives with the DCM phenotype were carriers, whereas none of the noncarriers showed signs of heart disease, so this mutation is the most likely cause of the disease. This is the first time that a variant in the N-terminal domain of SCN5A has been associated with DCM.

Helicobacter pylori infection and eradication outcomes among Vietnamese patients in the same households: Findings from a non-randomized study.

Familial transmission can possibly influence the infection and treatment of Helicobacter pylori. This study aimed to describe the prevalence of H. pylori infection and outcomes of eradication treatment among Vietnamese patients who live in the same households. We conducted a prospective cohort study of Vietnamese household members with upper gastrointestinal complaints. Participants received esophagogastroduodenoscopy and H. pylori testing. The H. pylori-positive patients were treated and asked to return for follow-up within 4 months. To explore factors associated with H. pylori infection at baseline, we performed multilevel logistic regression to account for the clustering effect of living in the same households. To explore factors associated with eradication failure, we used Poisson regression with robust variance estimation to estimate the risk ratio. The prevalence of H. pylori infection was 83.5% and highest among children <12 years old (92.2%) in 1,272 patients from 482 households. There were variations in H. pylori infection across households (intraclass correlation = 0.14, 95% confidence interval (CI) 0.05, 0.33). Children aged <12 years had higher odds of H. pylori infection (odds ratio = 3.41, 95%CI 2.11, 5.50). At follow-up, H. pylori was eradicated in 264 of 341 patients (77.4%). The risk of eradication failure was lower for the sequential regimen with tetracycline. H. pylori infection was common among people living in the same households. Eradication success for H. pylori was higher for the tetracycline sequential regimen. More research should be focused on how family factors influence H. pylori infection and on eradication treatment.

Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.

This study presents a case of familial transmission of thyroxine-binding globulin (TBG) deficiency. The SERPINA7-gene which codes for TBG is located on the X-chromosome (Xq21-22). More than 45 mutations have been reported to cause TBG- deficiency from various countries, but none from India so far. Genetic analysis of SERPINA7 gene was carried out to determine the cause of low TBG levels in one family. DNA samples of the propositus and the family members were subjected to Polymerase Chain Reaction (PCR) followed by direct sequencing. Allele-specific PCR and Next-gen sequencing (NGS) were employed to confirm the site of the mutation. Thyroid function tests were estimated by Radioimmunoassay (RIA) and Immunoradiometric assay (IRMA) kits. X-chromosomal inactivation status was analyzed in the female members harboring the mutation. A mutational screening in this family revealed a novel frame-shift mutation S353Q, 354fs3X in the exon 4 ofthe SERPINA7gene which will be referred to as TBG-complete deficiency-India (TBG-CD-Ind). One out of four female family members harboring the mutation showed selective X-chromosomal inactivation. The affected family members were clinically euthyroid initially, showed changes in the thyroid function when tested after a long time span. However, the changes in the thyroid function in the affected family members had an autoimmune etiology. This study presents the first report of TBG-CD from India wherein a novel frameshift mutation referred to as TBG-CD-Ind (S353Q, 354fs3X)in the SERPINA7 gene was detected. No apparent association was identified between thyroid function and the TBG-mutation in the affected subjects. A detailed biochemical and genomic testing to determine the exact cause of discordant TFT in the patients would certainly aid in the unequivocal diagnosis of the thyroid function and for the precise individualized treatment.

Offspring's risk for suicidal behaviour in relation to parental death by suicide: systematic review and meta-analysis and a model for familial transmission of suicide.

Exposure to parental suicide has been associated with increased risk for suicide and suicide attempts, although the strength of this association is unclear as evidence remains inconsistent. To quantify this risk using meta-analysis and identify potential effect modifiers. A systematic search in PubMed, PsycInfo and Embase databases to 2020 netted 3614 articles. Inclusion criteria were: observation of history of parental death by suicide, comparison with non-exposed populations and definition of suicide and suicide attempt according to standardised criteria. We focused on population-based studies. The primary outcome was the pooled relative risk (RR) for incidence of suicide attempt and suicide in offspring of a parent who died by suicide compared with offspring of two living parents. Additionally, we compared the RR for attempted and completed suicide after parental suicide with the RR for attempted and completed suicide after parental death by other causes. Twenty studies met our inclusion criteria. Offspring exposed to parental suicide were more likely to die by suicide (RR = 2.97, 95% CI 2.50-3.53) and attempt suicide (RR = 1.76, 95% CI 1.58-1.96) than offspring of two living parents. Furthermore, their risk of dying by or attempting suicide was significantly higher compared with offspring bereaved by other causes of death. The experience of losing a parent to suicide is a strong and independent risk factor for suicidal behaviour in offspring. Our findings highlight the need for prevention strategies, outreach programmes and support interventions that target suicide-related outcomes in the exposed population.

SARS-CoV-2 seroprevalence in children and their family members, July-October 2020, Brussels.

The aim of this study was to estimate the seroprevalence of SARS-CoV-2 antibodies in a pediatric population after the first pandemic wave in Belgium. All patients requiring a blood sample between 1 July 2020 and 31 October 2020 in our institution were invited to participate. Their parents and siblings could also participate to estimate familial transmission and the congruence between serological statuses. A questionnaire was completed for each participant to identify symptoms consistent with COVID-19 in the previous months. Blood samples were tested for SARS-CoV-2-specific immunoglobulin G using ELISA. The final population included 112 children, 24 siblings of these children, and 36 adults. The seroprevalence of cases was 6.9% before 8 September, a date that corresponds to 1 week after the beginning of the second wave in Belgium and 22.5% afterwards (OR = 3.89, 95% CI (1.20; 12.58), p-value = 0.03). Twenty-five percent of children were asymptomatic, and none experienced severe disease. The symptoms associated with SARS-CoV-2-positive antibodies were diarrhoea (OR = 9.9, 95% CI [2.88; 33.87.65] p-value < 0.01), fever (OR = 3.8, 95% CI [1.44; 10.22] p-value < 0.01), rhinitis (OR = 3.9, 95% CI [1.38; 10.90] p-value = 0.01), or anosmia (OR = 31.5, 95% CI [1.45; 682.7], p-value = 0.02). A child was the first symptomatic household member in 50% of the familial clusters.Conclusion: Seroprevalence in children was comparable to that of the general population. Children could represent the source of infection in the household. What is Known:• COVID-19 infection is generally mild or asymptomatic in children and adolescents.• Belgian strategy of testing was focused on symptoms.• Adults are believed to be responsible for most of familial clusters.What is New:• Serological testing gives a more accurate view of the rate of infected children.• Based on serological results, children have been infected as frequently as adults during the first and second wave in Belgium.• Seventy-five percent of SARS-CoV-2 IgG-positive children presented a mild symptomatology, and 25% were totally asymptomatic.• Children could represent the source of infection within household.

Displays of negative facial affect during parent-adolescent conflict and the bidirectional transmission of social anxiety.

Symptoms of social anxiety rise rapidly during adolescence, particularly for girls. Pervasive displays of parental negative affect may increase adolescents' fear of negative evaluation (FNE), thereby increasing risk for social anxiety symptoms. Adolescent displays of negative affect may also exacerbate parents' social anxiety symptoms (via FNE of their child or their parenting skills), yet little research has tested transactional pathways of transmission in families. By early adolescence, rates of parent-child conflict rise, and offspring become increasingly independent in their own displays of negative affect, increasing opportunities for hypothesized transactional pathways between parent-adolescent displays of negative affect and social anxiety symptoms. This study included 129 parents and daughters (11-13; no baseline social anxiety disorder), two-thirds of whom were at high risk for social anxiety due to a shy/fearful temperament. We used actor-partner interdependence models (APIM) to test whether displays of negative facial affect, assessed individually for each parent and daughter during a conflict discussion, would predict their partner's social anxiety symptoms two years later. Automated facial affect coding assessed the frequency of negative affect during the discussion. Clinician ratings of social anxiety symptoms were completed at baseline and two-year follow-up. Both parents and daughters who displayed more frequent negative facial affect at baseline had partners with higher follow-up social anxiety symptoms, an effect that was maintained after accounting for actors' and partners' baseline symptoms. Findings are consistent with intergenerational models positing that parental negative affective behaviors increase risk for adolescent social anxiety symptoms but also suggest that adolescent negative facial affect may exacerbate parental social anxiety symptoms. These bidirectional effects improve understanding of how social anxiety is maintained within a transactional family structure and highlight that displays of negative affect during parent-adolescent interaction may warrant future examination as a potential treatment target for adolescent social anxiety.

A CASE OF RARE INHERITED RESTRICTIVE CARDIOMYOPATHY CAUSED BY A NOVEL MUTATION IN MYH7 GENE

Introduction: Inherited restrictive cardiomyopathy (RCM) is a rare cause of RCM associated with cytoskeletal and sarcoma gene mutations. We describe a case of inherited RCM due to MYH7s genetic mutation.Case description: A 66 year-old-woman was admitted for acute global heart failure. She had a family history of RCM with a mutation of MYH7 gene: sons sudden death at 30, one of her daughters who is 40 and grandson who is 1. The transthoracic cardiac ultrasound (TTE) showed a bi-atrial dilation, a non-dilated left ventricle (LV) non-hypertrophied. Genetic investigation found the same pathogenic missense mutation (c. 1477A&gt;G in heterozygous state) in our patient and her daughter who has a non-obstructive hypertrophy cardiomyopathy (HCM).A few weeks later, our patient had a syncope on complete atrioventricular block. A triple chamber pace maker was installed. Discussion: Familial RCMs mutations are characterized by high allelic, genetic and phenotypic variability, with autosomal dominant inheritance and variable penetrance. This mutation is rarely found in RCM, it is usually reported in HCM (OMIM 160760). Genetic screening should be considered to identify patients at risk in families with suspected familial transmission. MYH7 mutations seem to be associated with severe phenotypes, earlier age of onset and more pejorative evolution than other mutations. Conclusion:The evaluation of familial RCM requires an understanding of its variable phenotypic expression and incomplete penetrance. RCM and HCM may coexist in the same family. Genetic testing for hereditary RCM should be considered when secondary causes have been excluded.

Brain 5-HT1A Receptor PET Binding, Cortisol Responses to Stress, and the Familial Transmission of Suicidal Behavior.

BackgroundThe serotonin 1A (5-HT1A) receptor has been implicated in depression and suicidal behavior. Lower resting cortisol levels are associated with higher 5-HT1A receptor binding, and both differentiate suicide attempters with depression. However, it is not clear whether 5-HT1A receptor binding and cortisol responses to stress are related to familial risk and resilience for suicidal behavior.Methods[11C]CUMI-101 positron emission tomography imaging to quantify regional brain 5-HT1A receptor binding was conducted in individuals considered to be at high risk for mood disorder or suicidal behavior on the basis of having a first- or second-degree relative(s) with an early onset mood disorder and history of suicidal behavior. These high-risk individuals were subdivided into the following groups: high risk resilient having no mood disorder or suicidal behavior (n = 29); high risk with mood disorder and no suicidal behavior history (n = 31); and high risk with mood disorder and suicidal behavior (n = 25). Groups were compared with healthy volunteers without a family history of mood disorder or suicidal behavior (n = 34). Participants underwent the Trier Social Stress Task (TSST). All participants were free from psychotropic medications at the time of the TSST and PET scanning.ResultsWe observed no group differences in 5-HT1A receptor binding considering all regions simultaneously, nor did we observe heterogeneity of the effect of group across regions. These results were similar across outcome measures (BPND for all participants and BPp in a subset of the sample) and definitions of regions of interest (ROIs; standard or serotonin system-specific ROIs). We also found no group differences on TSST outcomes. Within the high risk with mood disorder and suicidal behavior group, lower BPp binding (β = −0.084, SE = 0.038, P = .048) and higher cortisol reactivity to stress (β = 9.25, 95% CI [3.27,15.23], P = .004) were associated with higher lethality attempts. There were no significant relationships between 5-HT1A binding and cortisol outcomes.Conclusions5-HT1A receptor binding in ROIs was not linked to familial risk or resilience protecting against suicidal behavior or mood disorder although it may be related to lethality of suicide attempt. Future studies are needed to better understand the biological mechanisms implicated in familial risk for suicidal behavior and how hypothalamic-pituitary-adrenal axis function influences such risk.

Clinical characteristics of pregnant women with COVID-19 in Japan: a nationwide questionnaire survey

BackgroundFew reports have presented an overall view of pregnant women with coronavirus disease 2019 (COVID-19) across an entire country and throughout the entire gestation period. Furthermore, no such reports are available for Japan. We examined the clinical characteristics and outcomes of pregnant women with COVID‑19 on a national scale in Japan.MethodsA nationwide questionnaire-based survey for all 2,185 maternity services in Japan was conducted between July and August 2020. Information regarding maternal characteristics and epidemiological, clinical, treatment, and perinatal outcomes of pregnant women diagnosed with COVID-19 between 16 January and 30 June 2020 were collected. Main outcome measures were incidence of pregnant women with COVID-19 and infant infection, positive rate of the universal screening test for asymptomatic pregnant women, identification of infection route and rates of maternal death, and severe cases.ResultsResponses from 1,418 institutions were assessed (65% of all delivery institutions in Japan). Seventy-two pregnant women were reported to have been diagnosed with COVID-19. The positive rate of the universal screening test for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) among asymptomatic pregnant women was 0.03% (2/7428). The most common route of infection was familial (57%). Fifty-eight pregnant women with COVID-19 were symptomatic, of whom five (8.6%) had a severe infection and one died (a tourist). Severe respiratory symptoms, oxygen administration, and pneumonia were frequently reported in the third trimester and postpartum period compared with in early pregnancy (22.2% vs 2.5% [P = 0.03], 38.9% vs 7.5% [P = 0.01], and 50.0% vs 7.5% [P < 0.001], respectively). All pregnant women with COVID-19 underwent caesarean sections, regardless of symptoms. There were no SARS-CoV-2 transmissions to newborns.ConclusionsIn Japan, the number of cases of COVID-19 infection in pregnant women is very low. Compared with early pregnancy, late pregnancy may be a risk factor for exacerbation of symptoms and familial transmission is the most common route of infection. The importance of infection prevention should be emphasised, especially in women in late pregnancy, their families, and any cohabitants.

The Debate Between Two of the Founders of American Psychiatric Genetics, Aaron Rosanoff and Abraham Myerson, on Mendelian Models for Psychiatric Illness: 1911-1917.

In 1911, Aaron Rosanoff published among the first pedigree studies of psychiatric illness, and the first ever in the United States, claiming that the neuropathic constitution was transmitted in as a Mendelian recessive disorder. In 1917, Abraham Myerson harshly critiqued that study, focusing on the very wide phenotypic definition of neuropathic constitution. Here, I describe Rosanoff and Myerson's backgrounds, the details of Rosanoff's study, and Myerson's critique and put this controversy in the context of the history of psychiatric genetics, emphasizing four themes: a) the close interrelationship between psychiatric diagnosis and models of genetic transmission, b) the strong attraction of Mendelian models to psychiatric geneticists after their 1900 rediscovery, c) the controversy about whether familial transmission of psychiatric illness is largely homogeneous or heterogeneous, and d) the methods taken by researchers to the problems of psychiatric genetics that typically emerged as part of their broader approach to the nature of psychiatric illness.