Pigmentation abnormalities in Coffin-Siris syndrome.

Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients.

"Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma".

Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry by 2021. Pathogenic variants of ARID1A account for 7-8% of cases with CSS phenotype. Malignancy has been previously reported in six individuals with CSS associated with BAF mutations. Two of these malignancies including one acute lymphoid leukemia and one hepatoblastoma were reported in ARID1A-associated CSS (ARID1A-CSS). Alterations in ARID1A are among the most common molecular aberrations in human cancer. Somatic deletion of 1p and specifically of 1p36.11 containing ARID1A is frequently seen in hepatoblastoma and has been associated with high-risk features. Here we report a child with CSS Phenotype and a novel de novo variant of ARID1A with hepatoblastoma. Because hepatoblastoma has an incidence of 1 per million children, the presence of hepatoblastoma in 2 of 30 known cases of ARID1A-CSS is significant. ARID1A-CSS should be included among the cancer predisposition syndromes associated with an increased risk of hepatoblastoma and tumour surveillance considered for these patients. The role of ARID1A in the pathogenesis and outcome of hepatoblastoma deserves further investigation.

A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.

BACKGROUND: Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effort to use a standardized ontology system to describe the disease characteristics in existing literature. Thus, comparing or contrasting different cohorts from the literature can be challenging, and coding disease features for clinical research or for registry data items is not uniform. PhenoStacks is a visualization analytics tool which helps graphically illustrate phenotypes of patients with genetic disorders using Human Phenotype Ontology (HPO) terms and can sort phenotypes by different disease characteristics. OBJECTIVE: To demonstrate the efficacy of PhenoStacks and the HPO system as clinical research tools when describing CDM1 cohorts. METHODS: Health Endpoints and Longitudinal progression in congenital myotonic dystrophy (HELP-CDM) is an ongoing study which longitudinally follows patients with CDM1. Items from the HELP-CDM data sheet were matched to corresponding HPO terms and analyzed using PhenoStacks. RESULTS: In total 40 subjects' phenotypes were visualized through PhenoStacks and 73 HPO terms were used for the analysis. Frequent phenotypic features included "high narrow palate", "facial palsy", "ptosis", "hyporeflexia", and "weak voice". Contractures were associated with higher repeat sizes. Hypoplastic muscles and infantile axial hypotonia were more frequently observed in infants. CONCLUSIONS: PhenoStacks is a valuable clinical and scientific tool as it identifies variability within cohorts and highlights significant phenotypic features.

Body composition in patients with congenital myotonic dystrophy.

INTRODUCTION: Congenital myotonic dystrophy (CDM) is a rare neuromuscular disorder characterized by severe hypotonia and muscle weakness at birth that tends to improve with age. Understanding lean body and bone mass in this population has important research and clinical implications. The main objective of this study was to determine whether older children with CDM had muscle mass similar to healthy controls. METHODS: Thirty-five patients with CDM (3-13 years old) were enrolled. We analyzed lean body mass (LBM) and bone mineral content using the mechanostat framework, which allows calculation of z-scores for sex, age, and height. RESULTS: All patients had low LBM z-scores (muscle mass); however, higher LBM z-score was positively correlated with age (r = 0.45, P = 0.006), showing that it is closer to normal in older patients. DISCUSSION: Unlike other neuromuscular diseases, older children with CDM have a muscle mass closer to age-matched controls, consistent with the clinical profile of increasing strength in childhood. Muscle Nerve 60: 176-179, 2019.

Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy.

BACKGROUND: Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented. OBJECTIVE: Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM. METHODS: A 5-year cohort of CDM eligible cases was conducted via the Canadian Pediatric Surveillance Program. 38 patients met the inclusion criteria. Comparison to other CDM case series published in the literature between 1992 and 2016 about perinatal and infancy morbidity. RESULT: From a total of 118 cases, the most frequent features were Polyhydramnios (58%), feeding therapy (77%), intubation and ventilation (58%); neonatal death was reported in 16% of the cases; the most frequent long-term morbidity were respiratory tract infections. CONCLUSIONS: We performed a detailed description of the main perinatal features of CDM and precise documentation of the mortality and morbidity during the first five years of life. This is an essential step in the knowledge of the natural history of CDM.

Effects of the interparental relationship on adolescents' emotional security and adjustment: The important role of fathers.

We examined the mediational roles of multiple types of adolescents' emotional security in relations between multiple aspects of the interparental relationship and adolescents' mental health from ages 13 to 16 (N = 392). General marital quality, nonviolent parent conflict, and physical intimate partner violence independently predicted mental health. Security in the father-adolescent relationship, over and above security with the mother and security in regard to parent conflict, mediated the link from general marital quality to adolescents' mental health. With 2 exceptions, paths were stable for boys and girls, biological- and stepfathers, and Anglo- and Mexican Americans. The findings reveal the need to expand the traditional foci on parent conflict and relationships with mothers to include general marital quality and relationships with fathers. (PsycINFO Database Record

Reconsidering the "acculturation gap" narrative through an analysis of parent-adolescent acculturation differences in Mexican American families.

Using a sample of 193 Mexican American adolescents (M age at Wave 1 = 14) and three waves of data over two years, this study longitudinally examined the effects of parent-youth acculturation differences, relative to no differences, on parent-adolescent relationship quality and youth problem behavior. We examined parent-youth differences in overall acculturation, Mexican acculturation, and American acculturation. We differentiated between cases in which the adolescent was more acculturated than the parent and cases in which the parent was more acculturated than the adolescent. Adolescents were more commonly similar to their parents than different. Where differences existed, adolescents were not uniformly more American than their parents, no type of difference was associated with parent-adolescent relationship quality, and no type of difference in overall acculturation was associated with youth problem behavior. One type of difference by dimension (adolescent had less Mexican acculturation than mother) was associated with less risk of problem behavior.

He Said What? Guided Cognitive Reframing About the Co-resident Father/Stepfather-adolescent Relationship.

We studied young adolescents' seeking out support to understand conflict with their co-resident fathers/stepfathers and the cognitive and affective implications of such support-seeking, phenomena we call guided cognitive reframing. Our sample included 392 adolescents (Mage = 12.5, 52.3% female) who were either of Mexican or European ancestry and lived with their biological mothers and either a stepfather or a biological father. More frequent reframing was associated with more adaptive cognitive explanations for father/stepfather behavior. Cognitions explained the link between seeking out and feelings about the father/stepfather and self. Feelings about the self were more strongly linked to depressive symptoms than cognitions. We discuss the implications for future research on social support, coping, guided cognitive reframing, and father-child relationships.

Attributions of Fathering Behaviors Among Adolescents: The Role of Gender, Ethnicity, Family Structure, and Depressive Symptoms.

Little attention has been paid to how early adolescents make attributions for their fathers' behavior. Guided by symbolic interaction theory, we examined how adolescent gender, ethnicity, family structure, and depressive symptoms explained attributions for residential father behavior. 382 adolescents, grouped by ethnicity (European American, Mexican American) and family structure (intact, stepfamilies), reported attributions for their fathers' positive and negative behaviors. Results indicated that for positive events girls made significantly more stable attributions, whereas boys made more unstable attributions. Mexican American adolescents tended to make more unstable attributions for positive events than European Americans, and adolescents from intact families made more stable attributions for positive events than adolescents from stepfamilies. Implications are discussed for the role of attributions in father-adolescent relationships as prime for intervention in families.

Marital problems, maternal gatekeeping attitudes, and father-child relationships in adolescence.

We evaluated maternal gatekeeping attitudes as a mediator of the relation between marital problems and father-child relationships in 3 waves when children were in Grades 7-10. We assessed each parent's contribution to the marital problems experienced by the couple. Findings from mediational and cross-lagged structural equation models revealed that increased marital problem behaviors on the part of mothers at Wave 1 predicted increased maternal gatekeeping attitudes at Wave 2, which in turn predicted decreased amounts of father-adolescent interaction at Wave 3. Decreased amounts of interaction with either parent were associated within each wave with adolescents' perceptions that they mattered less to that parent. Amount of interaction with fathers at Wave 2 positively predicted changes in boys' perceptions of how much they mattered to their fathers at Wave 3, and amount of interaction with mothers at Wave 2 positively predicted changes in girls' perceptions of how much they mattered to their mothers at Wave 3. The findings did not differ for European American versus Mexican American families or for biological fathers versus step-fathers.

Perceived discrimination and ethnic identity among breast cancer survivors.

PURPOSE/OBJECTIVES: To examine ethnic identity and socio-demographic factors in minority patients' perceptions of healthcare discrimination in breast cancer care. DESIGN: Mixed methods. SETTING: Participants' homes in the metropolitan areas of Phoenix and Tucson, AZ. SAMPLE: 39 women treated for breast cancer in the past six years: 15 monolingual Spanish-speaking Latinas, 15 English-speaking Latinas, and 9 African Americans. METHODS: Two questionnaires were administered. Individual interviews with participants were conducted by nurse researchers. Quantitative, qualitative, and matrix analytic methods were used. MAIN RESEARCH VARIABLES: Ethnic identity and perceptions of discrimination. FINDINGS: Eighteen women (46%) believed race and spoken language affected the quality of health care. Perceived dis-respect from providers was attributed to participant's skin color, income level, citizenship status, and ability to speak English. Discrimination was more likely to be described in a primary care context, rather than cancer care. Ethnic identity and early-stage breast cancer diagnosis were the only study variables significantly associated with perceived healthcare discrimination. CONCLUSIONS: This article describes the first investigation examining ethnic identity and perceived discrimination in cancer care delivery. Replication of this study with larger samples is needed to better understand the role of ethnic identity and cancer stage in perceptions of cancer care delivery. IMPLICATIONS FOR NURSING: Identification of ethnic-specific factors that influence patient's perspectives and healthcare needs will facilitate development of more effective strategies for the delivery of cross-cultural patient-centered cancer care.

Patterns of Father Self Evaluations among Mexican and European American Men and Links to Adolescent Adjustment.

A mixed-method study identified profiles of fathers who mentioned key dimensions of their parenting and linked profile membership to adolescents' adjustment using data from 337 European American, Mexican American and Mexican immigrant fathers and their early adolescent children. Father narratives about what fathers do well as parents were thematically coded for the presence of five fathering dimensions: emotional quality (how well father and child get along), involvement (amount of time spent together), provisioning (the amount of resources provided), discipline (the amount and success in parental control), and role modeling (teaching life lessons through example). Next, latent class analysis was used to identify three patterns of the likelihood of mentioning certain fathering dimensions: an emotionally-involved group mentioned emotional quality and involvement; an affective-control group mentioned emotional quality, involvement, discipline and role modeling; and an affective-model group mentioned emotional quality and role modeling. Profiles were significantly associated with subsequent adolescents' reports of adjustment such that adolescents of affective-control fathers reported significantly more externalizing behaviors than adolescents of emotionally-involved fathers.

A test of the social development model during the transition to junior high with Mexican American adolescents.

Mexican American adolescents have higher rates of externalizing problems than their peers from other ethnic and racial groups. To begin the process of understanding factors related to externalizing problems in this population, this study used the social development model (SDM) and prospective data across the transition to junior high school from 750 diverse Mexican American families. In addition, the authors examined whether familism values provided a protective effect for relations within the model. Results showed that the SDM worked well for this sample. As expected, association with deviant peers was the primary predictor of externalizing behaviors. There was support for a protective effect in that adolescents with higher familism values had slower rates of increase in association with deviant peers from 5th to 7th grades than those with lower familism values. Future research needs to determine whether additional culturally appropriate modifications of the SDM would increase its usefulness for Mexican American adolescents.

Economic hardship, neighborhood context, and parenting: prospective effects on Mexican-American adolescent's mental health.

This study examined family and neighborhood influences relevant to low-income status to determine how they combine to predict the parenting behaviors of Mexican-American mothers and fathers. The study also examined the role of parenting as a mediator of these contextual influences on adolescent internalizing and externalizing symptoms. Study hypotheses were examined in a diverse sample of Mexican-American families in which 750 mothers and 467 fathers reported on their own levels of parental warmth and harsh parenting. Family economic hardship, neighborhood familism values, and neighborhood risk indicators were all uniquely associated with maternal and paternal warmth, and maternal warmth mediated the effects of these contextual influences on adolescent externalizing symptoms in prospective analyses. Parents' subjective perceptions of neighborhood danger interacted with objective indicators of neighborhood disadvantage to influence maternal and paternal warmth. Neighborhood familism values had unique direct effects on adolescent externalizing symptoms in prospective analyses, after accounting for all other context and parenting effects.

Fathering and Adolescent Adjustment: Variations by Family Structure and Ethnic Background.

The current study investigated how fathering behaviors (acceptance, rejection, monitoring, consistent discipline, and involvement) are related to preadolescent adjustment in Mexican American and European American stepfamilies and intact families. Cross-sectional data from 393 7th graders, their schoolteachers, and parents were used to examine links between different dimensions of fathering and adolescent outcomes. Following an ecological multivariate model, family SES, marital satisfaction, and mothers' parenting were included as controls. In all contexts, fathering had significant effects on adolescent adjustment. Both mothers' parenting and adolescent gender moderated the associations, and we uncovered some provocative nonlinear relations between fathering and adolescent outcomes. The importance of ethnicity and family structure in studies of fathering are highlighted.

The Mexican American Cultural Values scales for Adolescents and Adults.

This research evaluates the properties of a measure of culturally linked values of Mexican Americans in early adolescence and adulthood. The items measure were derived from qualitative data provided by focus groups in which Mexican Americans' (adolescents, mothers and fathers) perceptions of key values were discussed. The focus groups and a preliminary item refinement resulted in the fifty-item Mexican American Cultural Values Scales (identical for adolescents and adults) that includes nine value subscales. Analyses of data from two large previously published studies sampling Mexican American adolescents, mothers, and fathers provided evidence of the expected two correlated higher order factor structures, reliability, and construct validity of the subscales of the Mexican American Cultural Values Scales as indicators of values that are frequently associated with Mexican/Mexican American culture. The utility of this measure for use in longitudinal research, and in resolving some important theoretical questions regarding dual cultural adaptation, are discussed.

Discrimination and adjustment for Mexican American adolescents: A prospective examination of the benefits of culturally-related values.

Mexican American adolescents face disparities in mental health and academic achievement, perhaps in part because of discrimination experiences. However, culturally-related values, fostered by ethnic pride and socialization, may serve to mitigate the negative impact of discrimination. Guided by the Stress Process Model, the current study examined risk and protective processes using a 2-wave multi-informant study with 750 Mexican American families. Specifically, we examined two possible mechanisms by which Mexican American values may support positive outcomes in the context of discrimination; as a protective factor (moderator) or risk reducer (mediator). Analyses supported the role of Mexican American values as a risk reducer. This study underscores the importance of examining multiple mechanisms of protective processes in understanding Mexican American adolescent resilience.

Relations between Mattering to Step- and Non-Residential Fathers and Adolescent Mental Health.

This study examined the relations between perceptions of 133 early adolescents in stepfamilies concerning how much they mattered to their stepfathers and nonresidential biological fathers and adolescents' mental health problems. Mattering to nonresidential biological fathers significantly negatively predicted mother-, teacher-, and youth-reported internalizing problems. Mattering to stepfathers significantly negatively predicted youth-reported internalizing and stepfather- and youth- reported externalizing problems. For teacher-reported externalizing problems, mattering to stepfathers and nonresidential biological fathers significantly interacted. Mattering to either father predicted low externalizing problems; perceptions of mattering to the second father did not predict a further reduction in problems. Results suggest that mattering is an important aspect of father-adolescent relationships, and highlight the importance of considering adolescents' relationships with both nonresidential fathers and stepfathers.

Family and neighborhood fit or misfit and the adaptation of Mexican Americans.

In this study, a person-environment fit model was used to understand the independent and combined roles of family and neighborhood characteristics on the adjustment of adults and children in a sample of 750 Mexican American families. Latent class analysis was used to identify six qualitatively distinct family types and three quantitatively distinct neighborhood types using socioeconomic and cultural indicators at each level. The results showed that members of single-parent Mexican American families may be particularly at-risk, members of the lowest-income immigrant families reported fewer adaptation problems if they lived in low-income neighborhoods dominated by immigrants, members of economically successful immigrant families may be more at-risk in integrated middle class neighborhoods than in low-income neighborhoods dominated by immigrants, and members of two-parent immigrant families appear to be rather resilient in most settings despite their low socioeconomic status.

Sampling and recruitment in studies of cultural influences on adjustment: a case study with Mexican Americans.

Research examining how cultural factors affect adjustment of ethnic minority individuals would be strengthened if study samples better represented the diversity within these populations. To recruit a representative sample of Mexican American families, the authors implemented a multiple-step process that included sampling communities to represent diversity in cultural and economic conditions, recruiting participants through schools, using culturally attractive recruitment processes, conducting interviews in participants' homes, and providing a financial incentive. The result was a sample of 750 families that were diverse in cultural orientation, social class, and type of residential communities and were similar to the census description of this population. Thus, using culturally appropriate adaptations to common recruitment strategies makes it possible to recruit representative samples of Mexican Americans.