Genomic analysis of inherited hearing loss in the Palestinian population.

The genetic characterization of a common phenotype for an entire population reveals both the causes of that phenotype for that place and the power of family-based, population-wide genomic analysis for gene and mutation discovery. We characterized the genetics of hearing loss throughout the Palestinian population, enrolling 2,198 participants from 491 families from all parts of the West Bank and Gaza. In Palestinian families with no prior history of hearing loss, we estimate that 56% of hearing loss is genetic and 44% is not genetic. For the great majority (87%) of families with inherited hearing loss, panel-based genomic DNA sequencing, followed by segregation analysis of large kindreds and transcriptional analysis of participant RNA, enabled identification of the causal genes and mutations, including at distant noncoding sites. Genetic heterogeneity of hearing loss was striking with respect to both genes and alleles: The 337 solved families harbored 143 different mutations in 48 different genes. For one in four solved families, a transcription-altering mutation was the responsible allele. Many of these mutations were cryptic, either exonic alterations of splice enhancers or silencers or deeply intronic events. Experimentally calibrated in silico analysis of transcriptional effects yielded inferences of high confidence for effects on splicing even of mutations in genes not expressed in accessible tissue. Most (58%) of all hearing loss in the population was attributable to consanguinity. Given the ongoing decline in consanguineous marriage, inherited hearing loss will likely be much rarer in the next generation.

Emancipatory approaches in couples' intervention research.

A lack of diversity exists in couples research with an overrepresentation of white, middle to upper income couples. Additionally, researchers often do not reflect the study sample, particularly when studying underrepresented minority and historically marginalized (URM-HM) populations. Emancipatory research practices focus on language, processes, and practices to ensure that researchers and the research they conduct honor and contribute to the empowerment of the URM-HM research participants. Therefore, in this paper, we discuss five critical considerations with recommendations for emancipatory research practices for including couples from URM-HM populations. The aim is to provide a framework for researchers to critically reflect on their work with URM-HM populations. The research practices include: (a) research positionality and reflexivity; (b) understanding of the population being served; (c) power and empowerment; (d) accountability, voice, and participant engagement; and (e) research that benefits URM-HM populations and challenges the systems that perpetuate inequities. Additionally, we present practical strategies to implement these five considerations based on our own experiences conducting community-effectiveness studies with low-income and diverse couples.

Examining the stability of emotional regulation and psychological distress for low-income individuals: A latent transition analysis.

Previous relationship education research has focused on investigating healthy relationships at the couple level, with limited research conducted on individual-oriented relationship education programs for economically disadvantaged individuals. More specifically, there is a lack of research on how individual-oriented relationship education programs contribute to changes in unique attributes of individuals who enroll in these programs and who would benefit most from relationship education programs. The primary aim of this study is to understand the stability of economically disadvantaged individuals' psychological distress and emotion regulation over two time points, comparing individuals randomly assigned to the relationship intervention using Prevention and Relationship Education's (PREP) Within My Reach (WMR) versus those assigned to a wait-list control. Using a sample of 1129 economically disadvantaged individuals enrolled in the study, results indicated that the three-class model for psychological distress and emotion regulation was the most appropriate for the latent transition analysis. Treatment group participants were more likely to transition to more adaptive models than their wait-list control counterparts, although a small percentage of participants did transition to a less adaptive model. Implications, future directions, and limitations are discussed.

A randomized trial of relationship education using Within Our Reach for economically vulnerable couples.

Couples relationship education is grounded in teaching couples' skills and strategies to form and sustain healthy relationships. The purpose of this investigation was to examine the impact of a relationship education intervention on emotion regulation, individual distress, dyadic coping, and relationship adjustment utilizing a randomized control trial for economically vulnerable couples. The analysis sample included 1418 couples (2836 individuals) who were randomly assigned to receive the 12-h Within Our Reach curriculum immediately, or to a wait-list control group. We estimated multilevel growth curve models over time among outcomes between treatment and wait-list control conditions. Treatment group couples demonstrated statistically significant improvements over the 6-month study period on emotional regulation and dyadic coping when compared to their wait-list group counterparts. Although models showed improvements in individual distress and relationship adjustments, these improvements did not amount to statistically significant group differences. Implications and limitations are also noted.

Introduction to special section: Federally funded, community-based healthy marriage and responsible fatherhood program impact studies.

The focus of this special section is impact studies that were conducted as part of the Administration for Children and Families' Healthy Marriage and Responsible Fatherhood initiative. This initiative has led to more than 2 million people receiving relationship education and fatherhood programs across the United States over the last two decades. Community organizations develop these programs, select their curricula and content, and run these programs in their local communities. Many programs funded in the 2015-2020 cohort of grantees included randomized controlled trials of program effectiveness; some of these studies are presented in this issue, with the goal of marrying the field of program evaluation and family science.

Using Intent-to-Attend to Predict Attendance in Community-Based Relationship Education.

Government-supported relationship education has provided resources for inclusion of economically vulnerable and ethnically diverse participants; however, many grantees and programs struggled to retain couples in longitudinal studies, which has likely influenced study effects and threatened internal validity. In the present study, we assessed 1,056 couples' baseline relationship satisfaction and intent-to-attend their next scheduled visit while participating in a randomized controlled trial of relationship education and evaluated the predictive ability of their responses to remain in the six-month study. We conducted actor-partner interdependence models for couples, using a probit cross-lagged regression with a structural equation modeling framework, to test the dyadic influence of intent-to-attend on future couple attendance. We also examined the influence of higher or lower baseline relationship satisfaction between partners and group assignment (treatment or wait-list control) on attendance. Intent-to-attend scores were associated with attendance for couples at the one-month follow-up, and early attendance was the biggest predictor of later attendance. Additionally, baseline intent-to-attend scores predicted later intent-to-attend scores for all follow-up time points. However, we found no partner effects, and no effects for the influence of baseline relationship satisfaction or group assignment. We discuss practical suggestions for including intent-to-attend in future studies, relationship education programming, and general therapy practice.

La capacitación en relaciones financiada por el gobierno ha facilitado recursos para la inclusión de participantes económicamente vulnerables y de distintas etnias; sin embargo, a muchos beneficiarios y programas les costó mantener a las parejas en los estudios longitudinales, lo cual probablemente haya influido en los efectos de los estudios y amenazado su validez interna. En el presente estudio, evaluamos la satisfacción con la relación en el momento basal de 1056 parejas y la intención de asistir a su próxima visita programada mientras participaban en un ensayo controlado aleatorizado de capacitación en relaciones, y evaluamos la capacidad predictiva de sus respuestas para permanecer en el estudio de seis meses. Implementamos modelos de interdependencia actor-pareja para las parejas usando un modelo Probit de regresión y retardo cruzado con un marco de modelos de ecuaciones estructurales con el fin de evaluar la influencia diádica de la intención de asistir en la asistencia futura de la pareja. También analizamos la influencia del nivel más bajo o más alto de satisfacción con la relación en el momento basal entre los integrantes de la pareja y la distribución a un grupo (de tratamiento o de control en lista de espera) en la asistencia. Los puntajes de la intención de asistir estuvieron asociados con la asistencia de las parejas en el seguimiento de un mes, y la asistencia inicial fue la mayor predictora de la asistencia posterior. Además, los puntajes de la intención de asistir en el momento basal predijeron los puntajes posteriores de la intención de asistir de todos los momentos de seguimiento. Sin embargo, no hallamos efectos de la pareja ni efectos de la influencia de la satisfacción con la relación o la distribución a un grupo en el momento basal. Comentamos sugerencias prácticas para incluir la intención de asistir en estudios futuros, en programas de capacitación en relaciones y en la práctica de la terapia general.

The Dyadic Association among Technoference and Relationship and Sexual Satisfaction of Young Adult Couples.

Technology use within relationships has been shown to produce potential rewards and costs that influence relationship development and/or sustainment; however, the negative influence of modern technology (i.e., smartphone, computer, tablet, and/or television) use in romantic relationships during quality time spent together (i.e., technoference) remains an understudied area. Even less is known about the effects of technoference on young adult couples' relationship satisfaction and sexual satisfaction. The current study utilized a descriptive correlational survey design with 158 young adult couples. We used actor-partner interdependence modeling to test the dyadic associations between technoference and relationship and sexual satisfaction among the young adult couple sample. Results indicated statistically significant negative actor effects between technoference and relationship and sexual satisfaction and statistically significant negative partner effects between technoference and relationship satisfaction.

Neural detection of socially valued community members.

As people form social groups, they benefit from being able to detect socially valuable community members-individuals who act prosocially, support others, and form strong relationships. Multidisciplinary evidence demonstrates that people indeed track others' social value, but the mechanisms through which such detection occurs remain unclear. Here, we combine social network and neuroimaging analyses to examine this process. We mapped social networks in two freshman dormitories (n = 97), identifying how often individuals were nominated as socially valuable (i.e., sources of friendship, empathy, and support) by their peers. Next, we scanned a subset of dorm members ("perceivers"; n = 50) as they passively viewed photos of their dormmates ("targets"). Perceiver brain activity in regions associated with mentalizing and value computation differentiated between highly valued targets and other community members but did not differentiate between targets with middle versus low levels of social value. Cross-validation analysis revealed that brain activity from novel perceivers could be used to accurately predict whether targets viewed by those perceivers were high in social value or not. These results held even after controlling for perceivers' own ratings of closeness to targets, and even though perceivers were not directed to focus on targets' social value. Overall, these findings demonstrate that individuals spontaneously monitor people identified as sources of strong connection in the broader community.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a wide range of deafness-associated variants and enabling clinical characterization of the associated phenotypes. Our goal was to identify the genetic causes of inherited hearing loss in this population, and to determine relationships among genotype, phenotype, and ethnicity. Genomic DNA samples from informative relatives of 88 multiplex families, all of self-identified Jewish ancestry, with either non-syndromic or syndromic hearing loss, were sequenced for known and candidate deafness genes using the HEar-Seq gene panel. The genetic causes of hearing loss were identified for 60% of the families. One gene was encountered for the first time in human hearing loss: ATOH1 (Atonal), a basic helix-loop-helix transcription factor responsible for autosomal dominant progressive hearing loss in a five-generation family. Our results show that genomic sequencing with a gene panel dedicated to hearing loss is effective for genetic diagnoses in a diverse population. Comprehensive sequencing enables well-informed genetic counseling and clinical management by medical geneticists, otolaryngologists, audiologists, and speech therapists and can be integrated into newborn screening for deafness.

The Relationship Between Social Support and Family Relationships Among Low-Income Couples Attending Relationship Education.

Results are mixed for relationship education (RE) interventions with low-income couples. For couples who experienced positive changes, it is not clear what aspects of program models contributed to change. Many low-income couples attend government-funded RE with limited access to social and community resources. Program models often provide related resources complimentary to RE skill-building. We examined the relationship between income, social support, and family functioning for low-income, ethnically diverse couples (N = 856) who attended RE, as well as the mediating effects of social support on family functioning outcomes. Analyses included three separate dyadic models that examined associations among constructs at baseline and immediately following the RE intervention. Results demonstrated relationships between participants' reported social support and family functioning such that (a) social support was associated with baseline family functioning for both men and women; (b) men's baseline social support was influenced by women's baseline family functioning; and (c) men's and women's social support change score had a positive influence on their own family functioning change score. However, social support was not a significant mediator of change in family functioning. Implications for RE practice and research are also discussed.

Los resultados de las intervenciones sobre educación para las relaciones (ER) con parejas de bajos recursos son variados. En el caso de las parejas que tuvieron cambios positivos, no está claro qué aspectos de los modelos del programa contribuyeron al cambio. Muchas parejas de bajos recursos asisten a ER financiadas por el gobierno con acceso limitado a recursos sociales y comunitarios. Los modelos del programa generalmente proporcionan recursos relacionados complementarios al desarrollo de habilidades para la ER. Analizamos la relación entre los ingresos, el apoyo social y el funcionamiento familiar en las parejas de bajos recursos y étnicamente diversas (N = 856) que asistieron a la ER, así como los efectos mediadores del apoyo social en los resultados del funcionamiento familiar. Los análisis incluyeron tres modelos diádicos independientes que examinaron las asociaciones entre los constructos al inicio del estudio e inmediatamente después de la intervención sobre ER. Los resultados demostraron las relaciones entre el apoyo social informado por los participantes y el funcionamiento familiar, por lo que (a) el apoyo social estuvo asociado con el funcionamiento familiar al inicio del estudio tanto en los hombres como en las mujeres; (b) el apoyo social de los hombres al inicio del estudio estuvo influenciado por el funcionamiento familiar de las mujeres al inicio del estudio; y (c) el puntaje de cambio del apoyo social de los hombres y las mujeres tuvo una influencia positiva en su propio puntaje de cambio del funcionamiento familiar. Sin embargo, el apoyo social no fue un mediador de cambio significativo en el funcionamiento familiar. También se debaten las implicancias para la investigación y la práctica en RE.

Relationship Distress as a Mediator of Adverse Childhood Experiences and Health: Implications for Clinical Practice with Economically Vulnerable Racial and Ethnic Minorities.

Adverse childhood experiences (ACE) are interpersonal sources of distress negatively correlated with physical and mental health, as well as maladaptive intimate partner conflict strategies in adulthood. Economically vulnerable racial and ethnic minorities report the greatest disparities in exposure to ACE, as well as relationship distress and health. Yet, little is known about the connections between ACE, relationship distress, and health. We therefore tested a theoretical model for the mediating role of relationship distress to explain the ACE-health connection with a sample (N = 96) predominantly racial/ethnic minorities (87%) with low income. We applied partial least squares structural equation modeling with bootstrapping (N = 500). Relationship distress strengthened the predictive relationship between ACE and health, and accounted for 42% of the variance in health. The results provide preliminary support for relationship distress as a social determinant of health disparities with implications for interdisciplinary health intervention.

Las experiencias adversas de la infancia son fuentes interpersonales de distrés correlacionadas negativamente con la salud mental y física así como con estrategias desadaptativas de conflicto con la pareja íntima en la adultez. Las minorías étnicas y raciales económicamente vulnerables informan las mayores divergencias en la exposición a experiencias adversas de la infancia, así como en el distrés en la relación y en la salud. Sin embargo, se sabe poco acerca de las conexiones entre las experiencias adversas de la infancia, el distrés relacional y la salud. Por lo tanto, evaluamos un modelo teórico para el rol mediador del distrés relacional a fin de explicar la conexión entre la salud y las experiencias adversas de la infancia con una muestra (N = 96) de minorías raciales o étnicas (87%) predominantemente de bajos recursos. Aplicamos un modelo de ecuaciones estructurales utilizando regresión parcial por mínimos cuadrados con análisis de remuestreo (N = 500). El distrés relacional fortaleció la relación predictiva entre las experiencias adversas de la infancia y la salud, y justificó el 42% de la varianza en la salud. Los resultados ofrecen un respaldo preliminar del distrés de la relación como determinante social de divergencias en la salud con implicancias para una intervención interdisciplinaria en la salud.

School and Family Factors Predicting Adolescent Cognition Regarding Bystander Intervention in Response to Bullying and Victim Retaliation.

Youth aggression occurs at high rates. Aggressive acts can be curbed through bystander intervention; yet, little is known about school and family factors that predict bystander intervention in response to both aggression and victim retaliation. This research examines school and family factors related to standing up to aggression and intervening before possible retaliation occurs. Participants included 6th and 9th graders (N = 896, 52.8% female), who evaluated how likely they would be to intervene if they observed aggression and if they heard the victim was planning to retaliate. Family and school factors are important predictors of bystander intervention, with higher family management, and more positive school climate associated with greater likelihood of intervention and higher feelings of social exclusion and teacher and peer discrimination associated with inactive responses to aggression and retaliation. Thus, a complex constellation of factors relate to the likelihood of intervening if someone is being victimized or considering retaliation in response to victimization. The results provide guidance and new directions for possible school- and family-based interventions to encourage bystander intervention in instances of aggression.

The Effectiveness of Couple and Individual Relationship Education: Distress as a Moderator.

Current literature yields mixed results about the effectiveness of relationship education (RE) with low-income participants and those who experience a high level of individual or relational distress. Scholars have called for research that examines whether initial levels of distress act as a moderator of RE outcomes. To test whether initial levels of relationship and/or individual distress moderate the effectiveness of RE, this study used two samples, one of couples who received couple-oriented relationship education with their partner (n = 192 couples) and one of individuals in a relationship who received individual-oriented RE by themselves (n = 60 individuals). We delivered RE in a community-based setting serving primarily low-income participants. For those attending with a partner, there was a significant interaction between gender, initial distress, and time. Findings indicate that women who were relationally distressed before RE reported the largest pre-postgains. Those who attended an individual-oriented RE program reported significant decreases in individual distress from pre to post, but no significant relationship gains. Findings also suggest that initial levels of distress did not moderate the effectiveness of individual-oriented RE.

Use of an anecdotal client feedback note in family therapy.

To attain information about divergent agendas in family therapy, as well as incorporate client feedback, we present the Client Feedback Note (CFN). The CFN elicits information about each family member's feelings, learning, dislikes, and wishes for each session. Anecdotal feedback after each session may help the therapist have better insight into the clients' perceptions and experience of the therapy and the therapist. Sensitivity to information generated by the CFN can help both therapist and client work to coconstruct a therapeutic process that is relevant to the diverse needs of the client system. This manuscript will (a) discuss literature supporting the use of client feedback in therapy; (b) present the CFN and rationale for its development; (c) discuss our experiences utilizing the CFN along with case examples that illustrate its use; and (d) identify practical applications, limitations, and potential research with using the CFN in systemic therapy.

Identifying social partners through indirect prosociality: A computational account.

The ability to identify people who are prosocial, supportive, and mindful of others is critical for choosing social partners. While past work has emphasized the information value of direct social interactions (such as watching someone help or hinder others), social tendencies can also be inferred from indirect evidence, such as how an agent considers others when making personal choices. Here we present a computational model of this capacity, grounded in a Bayesian framework for action understanding. Across four experiments we show that this model captures how people infer social preferences based on how agents act when their choices indirectly impact others (Experiments 1a, 1b, & 1c), and how people infer what an agent knows about others from knowledge of that agent's social preferences (Experiment 2). Critically, people's patterns of inferences could not be explained by simpler alternatives. These findings illuminate how people can discern potential social partners from indirect evidence of their prosociality, thus deepening our understanding of partner detection, and social cognition more broadly.

Examining intervention hours attended for couples randomly assigned to receive relationship education.

Relationship education (RE) has shown promise as an effective intervention for couples. Yet, challenges exist with retaining low-income couples and federal funding required that grantees provide at least 12 h of core content. We conducted a follow-up analysis to a randomized trial of RE with low-income couples. We focused on couples randomly assigned to the treatment (N = 579) and examined the influence of intervention hours on emotion regulation, dyadic coping, and individual distress at 1 and 6-month follow-up. Results of longitudinal actor-partner interdependence models indicated that women who completed the program reported fewer difficulties in emotion regulation at 6-month follow-up than women who attended fewer intervention hours. Additionally, men who completed reported more individual distress at 1-month follow-up than men who attended fewer hours. Given that most couples were Hispanic, we conducted an exploratory analysis to examine language as a covariate with mixed results.

Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.

Loss of function of stereocilin (STRC) is the second most common cause of inherited hearing loss. The loss of the stereocilin protein, encoded by the STRC gene, induces the loss of connection between outer hair cells and tectorial membrane. This only affects the outer hair cells (OHCs) function, involving deficits of active cochlear frequency selectivity and amplifier functions despite preservation of normal inner hair cells. Better understanding of cochlear features associated with mutation of STRC will improve our knowledge of normal cochlear function, the pathophysiology of hearing impairment, and potentially enhance hearing aid and cochlear implant signal processing. Nine subjects with homozygous or compound heterozygous loss of function mutations in STRC were included, age 7-24 years. Temporal and spectral modulation perception were measured, characterized by spectral and temporal modulation transfer functions. Speech-in-noise perception was studied with spondee identification in adaptive steady-state noise and AzBio sentences with 0 and -5 dB SNR multitalker babble. Results were compared with normal hearing (NH) and cochlear implant (CI) listeners to place STRC-/- listeners' hearing capacity in context. Spectral ripple discrimination thresholds in the STRC-/- subjects were poorer than in NH listeners (p < 0.0001) but remained better than for CI listeners (p < 0.0001). Frequency resolution appeared impaired in the STRC-/- group compared to NH listeners but did not reach statistical significance (p = 0.06). Compared to NH listeners, amplitude modulation detection thresholds in the STRC-/- group did not reach significance (p=  0.06) but were better than in CI subjects (p < 0.0001). Temporal resolution in STRC-/- subjects was similar to NH (p = 0.98) but better than in CI listeners (p = 0.04). The spondee reception threshold in the STRC-/- group was worse than NH listeners (p = 0.0008) but better than CI listeners (p = 0.0001). For AzBio sentences, performance at 0 dB SNR was similar between the STRC-/- group and the NH group, 88 % and 97 % respectively. For -5 dB SNR, the STRC-/- performance was significantly poorer than NH, 40 % and 85 % respectively, yet much better than with CI who performed at 54 % at +5 dB SNR in children and 53 % at + 10 dB SNR in adults. To our knowledge, this is the first study of the psychoacoustic performance of human subjects lacking cochlear amplification but with normal inner hair cell function. Our data demonstrate preservation of temporal resolution and a trend to impaired frequency resolution in this group without reaching statistical significance. Speech-in-noise perception compared to NH listeners was impaired as well. All measures were better than those in CI listeners. It remains to be seen if hearing aid modifications, customized for the spectral deficits in STRC-/- listeners can improve speech understanding in noise. Since cochlear implants are also limited by deficient spectral selectivity, STRC-/- hearing may provide an upper bound on what could be obtained with better temporal coding in electrical stimulation.