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1.
Br J Dev Psychol ; 2024 May 21.
Article in English | MEDLINE | ID: mdl-38770761

ABSTRACT

How gender diversity is exhibited varies: some individuals feel similar to the other gender; others experience little similarity to either gender, and some feel similar to both genders. For children, do these variations relate to differing relationships with peers? The goal was to assess whether a community sample of children (884, Mage = 9.04, SD = .90, 51% boys/1 transgender boy; 57% non-Latinx) with differing types of gender diversity have differing relationship experiences and beliefs about same- and other-gender peers. Gender diversity was determined by gender self-concepts (Both-Gender Similar, Cross-Gender Similar, Low-Gender Similar); these were compared among themselves and to gender-typical children (Own-Gender Similar). Results confirmed that children who exhibited differing gender diversity patterns varied in their peer experiences such that gender self-concept matching was found: Children who felt more similar to other-gender peers reported more contact and felt included and efficacious with other-gender peers; children who felt more similar to same-gender peers reported more contact and felt included and efficacious with same-gender peers. These findings suggest that children with two of the atypical patterns (i.e., Cross-Gender and Both-Gender) may experience social benefits that gender typical children do not. These findings illustrate the variability and strengths among gender diverse children.

3.
Br J Dev Psychol ; 2024 Apr 27.
Article in English | MEDLINE | ID: mdl-38676425

ABSTRACT

Self-socialization accounts of gender development suggest that children attend more to people of their own gender, activities associated with their own gender and stereotype-consistent examples in their environment. Evidence comes from research showing children's memory biases for such stimuli. This study sought to replicate these memory biases in 367 6- to 11-year-old transgender, cisgender and nonbinary children. Children were shown stereotype-consistent and counter-stereotypical images related to feminine- and masculine-typed activities performed by girls/women or boys/men. Results showed that transgender and cisgender children showed better recall for activities related to their own gender than the other gender. Neither group showed better recall for own-gender characters, and transgender children better recalled other-gender characters. None of the three groups better recalled stereotype-consistent than counter-stereotypical images in probed recall, although all groups showed better recall for counter-stereotypical than stereotype-consistent images in free recall. These findings provide partial support for self-socialization accounts of gender development.

4.
Arch Sex Behav ; 53(5): 1793-1812, 2024 May.
Article in English | MEDLINE | ID: mdl-38448690

ABSTRACT

Two components of gender identity are gender similarity, how one's self-concept relates to the major gender collectives (i.e., female, male), and felt pressure to conform to gender norms. The development of these components across ages and contexts has been understudied. The focus of this study was to examine variations in gender similarity and felt pressure across multiple intersecting contexts: developmental stage, gender, and ethnic-racial group. Six data sets were harmonized and means were compared across 2628 participants (51% girls, 49% boys) from four different developmental cohorts (childhood n = 678, early adolescence n = 1322, adolescence n = 415, and young adulthood n = 213) from diverse ethnic-racial backgrounds (45% White, 23% Latinx/Hispanic, 11% Black/African-American, 7% Asian-American, 5% American Indian, and 5% Multiracial). Results revealed nuanced patterns: Gender intensification was supported in early adolescence, primarily for boys. Young adult men reported lower levels of pressure and gender typicality than younger boys, but young adult women's levels were generally not different than younger girls. Surprisingly, young adult women's levels of own-gender similarity and pressure from parents were higher than adolescent girls. Expectations of gender differences in gender typicality and felt pressure were supported for all ages except young adults, with higher levels for boys. Finally, there were more similarities than differences across ethnic-racial groups, though when there were differences, minoritized participants reported heightened gender typicality and pressure (largely accounted for by higher scores for Black and Latinx participants and lower scores for White and Multiracial participants). These results add to what is understood about contextually dependent gender development.


Subject(s)
Gender Identity , Humans , Male , Female , Adolescent , Child , Young Adult , Ethnicity/statistics & numerical data , Ethnicity/psychology , Adult , Self Concept , Age Factors
5.
Br J Dev Psychol ; 40(4): 520-538, 2022 11.
Article in English | MEDLINE | ID: mdl-35748876

ABSTRACT

Promoting prosocial behaviour towards those who are dissimilar from oneself is an urgent contemporary issue. Because children spend much time in same-gender relationships, promoting other-gender prosociality could help them develop more inclusive relationships. Our goals were to better understand the development of school-age children's intergroup prosocial behavior and the extent to which elementary school-age children consider their own and the recipient's gender in prosocial behaviour. Participants included 515 3rd, 4th and 5th graders (263, 51.1% boys, Mageinyears  = 9.08, SD = 1.00) surveyed in the fall (T1) and spring (T2). We assessed children's prosociality using peer nominations. Children became more prosocial toward same-gender peers over time but prosocial behavior toward other-gender peers remained stable. We found that gender mattered: Children showed an ingroup bias in prosociality favouring members of their own-gender group. Having other-gender friendships positively predicted children's prosocial behaviour towards other-gender peers over time. Children's felt similarity to other-gender peers was not directly, but indirectly, related to more prosocial behaviour toward other-gender peers. Findings shed light on potential pathways to fostering school-age children's intergroup prosocial behaviors.


Subject(s)
Altruism , Social Behavior , Child , Female , Humans , Male , Peer Group , Schools
6.
J Youth Adolesc ; 51(2): 208-224, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35048254

ABSTRACT

Theory highlights power in aggressor-victim relationships, yet empirical work assessing dyadic power is largely absent. Variability in power balance versus imbalance within aggressor-victim dyads (based on social, physical, gender- and ethnicity-based power) was explored. Participants (N = 952; grade 6-8; 50% girls, 44% Hispanic/Latina/o) nominated aggressors and victims (4662 aggressor-victim dyads; 642 strong dyads [based on reputational strength]; 169 sustained dyads [based on longevity]). Dyadic social power (social network centrality and prestige) was calculated from friendship nominations. Self-report was used for dyadic physical (body mass index), gender- and ethnicity-based power. Across power indicators, there were more power-balanced than imbalanced dyads (particularly for strong and sustained dyads). The findings challenge theoretical notions that aggressors are more powerful than their victims and have implications for aggressor-victim relationships.


Subject(s)
Crime Victims , Ethnicity , Aggression , Female , Friends , Gender Identity , Humans , Male
7.
Sex Res Social Policy ; 19(3): 1270-1284, 2022.
Article in English | MEDLINE | ID: mdl-34367357

ABSTRACT

Introduction: The present article describes two interrelated studies that examine gender typicality in young adulthood using a new dual-identity approach. Methods: Participants were recruited online from March 2020 to February 2021 and reported their perceived similarity to own- and other-gender peers as a way to assess their gender typicality. In study 1, the authors conducted an exploratory factor analysis (EFA) and a confirmatory factor analysis (CFA) to test and validate the Perceived Similarity to Gender Groups Scale in a sample of Italian young adults (n = 571; M age = 23.9; SD = 3.60). The authors documented the configural, metric, scalar measurement invariance, and validity. In study 2, the Perceived Similarity to Gender Groups Scale adopted in study 1 was used to assess the distribution of different typologies of gender typicality in another sample of Italian young adults who vary in gender and sexual orientation (n = 1126; M age = 24.3; SD = 3.51). Results: Results confirmed the structural validity of the Perceived Similarity to Gender Groups Scale, revealing the two-factor structure of the scale. Moreover, results of cluster analysis found different typologies of self-perceptions of gender typicality. Conclusion: Both studies emphasize the relevance of studying gender typicality in young adulthood through a dual-identity approach, highlighting the relevance of gender and sexual orientations. Policy Implications: The use of the dual-identity approach has significant social and clinical implications as it represents a more flexible and representative model of the complexity of gender typicality. Supplementary Information: The online version contains supplementary material available at 10.1007/s13178-021-00631-5.

8.
Dev Psychol ; 57(9): 1510-1524, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34929095

ABSTRACT

We examined the development of children's positive and negative attitudes toward other-gender peers over 1 year, and explored the longitudinal social consequences of holding positive or negative attitudes on the beholder of these attitudes. Participants were 206 second graders (Mage = 7.18 yrs, SD = .56, 50% girls) and 206 fourth graders (Mage = 9.10 yrs, SD = .66, 44.2% girls) from diverse ethnic racial backgrounds (54.6% White; 17.2% Latinx, 4.4% Black, 5.3% Asian, 2.9% Native American, .7% Pacific Islander, 13.1% other) with average household income ranged from $51,000 to $75,000, and they were assessed in 2 consecutive years. Developmental change was assessed using latent change score analysis, which showed that positive other-gender attitudes increased over time (for boys) whereas negative other-gender attitudes decreased for everyone. Path analyses showed that both positive and negative other-gender attitudes predicted children's perceptions of stressful other-gender interactions and their inclusion expectancies by other-gender peers longitudinally, controlling for same-gender attitudes. We also examined the extent to which the predicted relation between attitudes and inclusion expectancies was mediated by children's perceptions of stressful experiences with other-gender peers. We found that the extent of mediation varied by the type of attitudes and by children's age. Overall, findings contributed to the understanding of the development of children's other-gender attitudes, and underscored the consequences of these attitudes for the beholder of attitudes. This work also sheds light on the discussion of intervention strategies aimed at improving children's gender-based intergroup relations. (PsycInfo Database Record (c) 2021 APA, all rights reserved).


Subject(s)
Attitude , Peer Group , Asian People , Child , Female , Humans , Male
9.
Pers Soc Psychol Bull ; 47(12): 1635-1653, 2021 12.
Article in English | MEDLINE | ID: mdl-33554741

ABSTRACT

Gender segregation is ubiquitous and may lead to increased bias against other-gender peers. In this study, we examined whether individual differences in friendships with other-gender children reduce gender bias, and whether these patterns vary by gender or ethnicity. Using a 1-year longitudinal design (N = 408 second graders [Mage = 7.56 years] and fourth graders [Mage = 9.48 years]), we found that, across groups, gaining more other-gender friendships over the year led to (a) increased positive cognitive-based attitudes toward the other gender and (b) increased positive and decreased negative affect when with the other gender. We also tested the reverse pattern and found support for a bidirectional link. Girls and Latinx children often showed more gender bias than did boys and European American children. Implications for promoting positive relationships between girls and boys are discussed.


Subject(s)
Friends , Sexism , Attitude , Child , Female , Humans , Male , Peer Group , White People
10.
Br J Health Psychol ; 26(2): 325-342, 2021 05.
Article in English | MEDLINE | ID: mdl-33058369

ABSTRACT

OBJECTIVES: With few empirically supported treatments, functional movement disorders (FMD) can be challenging to manage. To enable service providers to better support people with FMD, this study sought to understand the lived experience of FMD: to gain insight into how individuals make sense of their experience from symptom onset through medical evaluation and diagnosis to post-diagnostic adaptation. DESIGN: An interpretative phenomenological analysis (IPA) of patient accounts of living with FMD. METHODS: Eight participants were recruited from a UK teaching hospital adult neurology service: seven females, varying in age (20s-70s), FMD symptom type (tremor, dystonia, and tics), and time to diagnosis (10 - 192 months). Semi-structured interviews facilitated participant accounts of key events. Interviews lasted 75-125 minutes and were transcribed verbatim. RESULTS: Three super-ordinate themes were apparent. The first covered the experiences of onset ('Something is wrong with me'), including loss of control - with the affected body part often described as a separate entity - threats to identity and disturbance in relationships. 'At last! What now?' outlined the bittersweet experience of diagnosis and of treatments. Third, 'Living my life with it' incorporated ongoing experiences of coping with symptoms. While some continued to struggle with the emotional impact of symptoms, others developed a compassionate relationship with their self and maintained satisfying activities. CONCLUSIONS: FMD has a significant impact on patients' relationships with themselves and others, which in turn affects well-being. These findings suggest some nuanced additions to interventions (diagnosis, psychotherapy, physiotherapy, public education.).


Subject(s)
Adaptation, Psychological , Movement Disorders , Adult , Female , Humans , Infant , Psychotherapy , Qualitative Research
11.
Genet Med ; 23(2): 408-414, 2021 02.
Article in English | MEDLINE | ID: mdl-33033404

ABSTRACT

PURPOSE: Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies. Phenotypes resulting from variants in LMNB1 and LMNB2 have been much less clearly defined. METHODS: We investigated exome and genome sequencing from the Deciphering Developmental Disorders Study and the 100,000 Genomes Project to identify novel microcephaly genes. RESULTS: Starting from a cohort of patients with extreme microcephaly, 13 individuals with heterozygous variants in the two human B-type lamins were identified. Recurrent variants were established to be de novo in nine cases and shown to affect highly conserved residues within the lamin ɑ-helical rod domain, likely disrupting interactions required for higher-order assembly of lamin filaments. CONCLUSION: We identify dominant pathogenic variants in LMNB1 and LMNB2 as a genetic cause of primary microcephaly, implicating a major structural component of the nuclear envelope in its etiology and defining a new form of laminopathy. The distinct nature of this lamin B-associated phenotype highlights the strikingly different developmental requirements for lamin paralogs and suggests a novel mechanism for primary microcephaly warranting future investigation.


Subject(s)
Laminopathies , Microcephaly , Humans , Lamin Type B/genetics , Microcephaly/genetics
12.
Transgend Health ; 5(4): 246-257, 2020.
Article in English | MEDLINE | ID: mdl-33376803

ABSTRACT

Purpose: Pubertal suppression is standard of care for early pubertal transgender youth to prevent the development of undesired and distressing secondary sex characteristics incongruent with gender identity. Preliminary evidence suggests pubertal suppression improves mental health functioning. Given the widespread changes in brain and cognition that occur during puberty, a critical question is whether this treatment impacts neurodevelopment. Methods: A Delphi consensus procedure engaged 24 international experts in neurodevelopment, gender development, puberty/adolescence, neuroendocrinology, and statistics/psychometrics to identify priority research methodologies to address the empirical question: is pubertal suppression treatment associated with real-world neurocognitive sequelae? Recommended study approaches reaching 80% consensus were included in the consensus parameter. Results: The Delphi procedure identified 160 initial expert recommendations, 44 of which ultimately achieved consensus. Consensus study design elements include the following: a minimum of three measurement time points, pubertal staging at baseline, statistical modeling of sex in analyses, use of analytic approaches that account for heterogeneity, and use of multiple comparison groups to minimize the limitations of any one group. Consensus study comparison groups include untreated transgender youth matched on pubertal stage, cisgender (i.e., gender congruent) youth matched on pubertal stage, and an independent sample from a large-scale youth development database. The consensus domains for assessment includes: mental health, executive function/cognitive control, and social awareness/functioning. Conclusion: An international interdisciplinary team of experts achieved consensus around primary methods and domains for assessing neurodevelopmental effects (i.e., benefits and/or difficulties) of pubertal suppression treatment in transgender youth.

13.
J Adolesc ; 84: 219-229, 2020 10.
Article in English | MEDLINE | ID: mdl-33011578

ABSTRACT

INTRODUCTION: Qualitative and mixed-methods researchers have described the experience of gender norm resistance in adolescence and identified potential types of resistance including indirect resistance (motivated by a preference for gender-atypicality) and direct resistance (motivated by dislike of gender norms and a desire to change them). Building on this work, we developed the Gender Norm Resistance measure to operationalize indirect and direct gender norm resistance. We explored how gender norm resistance aligns with and differs from other gender self-concepts (e.g., felt pressure to conform to gender norms) and peer relations (e.g., contact with peers) and tested for gender differences. METHODS: Participants included 484 early adolescents (girls = 234; Mage = 11.44 years, SD = 0.56). Analyses included factor analyses (EFA, CFA) and bivariate correlations to gather validity evidence, and ANOVAs to determine mean level differences. RESULTS: Evidence that validated using the proposed measure as intended was found including confirmation of the two types of gender norm resistance (indirect and direct). Mean differences were found across participant gender as well as across types of gender norm resistance. CONCLUSIONS: The findings highlight the strengths and weaknesses of the Gender Norm Resistance measure, the different ways adolescents experience indirect and direct gender norm resistance, and the limited role of felt pressure in gender norm resistance.


Subject(s)
Gender Identity , Self Concept , Adolescent , Adolescent Behavior/psychology , Child , Female , Humans , Male , Peer Group , Social Behavior
14.
Dev Psychol ; 56(6): 1157-1169, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32297763

ABSTRACT

We explored how gender and gender similarity affects friendship dissolution following the transition to middle school. We predicted that both gender and gender similarity (measured by perceived similarity to own-gender and other-gender peers) explain dissolution trends and that less own-gender similarity or more other-gender similarity predicts more friendship dissolution. We considered gender and gender similarity at both the individual and dyad level (reflecting the discrepancy between friends). Participants were 198 students in Grade 6 (42% Latinx, 21% Caucasian, 10% Native American, 8% African American, 2% Asian American, and 17% mixed backgrounds; 77% qualified for free/reduced meals) in reciprocated same- or mixed-gender friendships followed from fall to spring of the academic year. Multilevel multimember logistic regression models, nesting friendships within each participating individual, demonstrated that girl-girl friendships were less likely to dissolve than boy-boy friendships, and mixed-gender friendships did not dissolve more than same-gender friendships. Feeling similar to one's own gender predicted less dissolution, but feeling similar to the other gender did not increase friendship dissolution. There was no support for the hypothesis that feeling similar to both genders (i.e., androgyny) protected against friendship dissolution, nor was there any support for the hypothesis that dyad-level differences in gender similarity would predict dissolution. The discussion focuses on the importance of conducting individual and dyad-level analyses as well as including gender similarity constructs when studying gender differences in friendships and their trajectories over time. (PsycInfo Database Record (c) 2020 APA, all rights reserved).


Subject(s)
Child Behavior/psychology , Friends , Gender Identity , Interpersonal Relations , Child , Female , Follow-Up Studies , Humans , Logistic Models , Male , Multilevel Analysis , Sex Factors
15.
Contemp Clin Trials ; 91: 105977, 2020 04.
Article in English | MEDLINE | ID: mdl-32151753

ABSTRACT

A growing body of evidence demonstrates that home-based, multicomponent interventions can effectively reduce exposures to asthma triggers and decrease asthma symptoms. However, few of these studies have targeted adults. To address this and other research gaps, we designed and implemented a pragmatic randomized clinical trial, the Houston Home-based Integrated Intervention Targeting Better Asthma Control (HIITBAC) for African Americans, to assess the effectiveness of a home-based intervention to improve asthma control and quality of life in African-American adults-a population disproportionately affected by asthma. The primary goals were to help participants reduce allergens and irritants in their homes and better manage their disease through knowledge, improved medication use, and behavior change. HIITBAC had two groups: clinic-only and home-visit groups. Both groups received enhanced clinical care, but the home-visit group also received a detailed home assessment and four additional home visits spaced over roughly one year. We recruited 263 participants. Of these, 152 (57.8%) were recruited through electronic health record data, 51 (19.4%) through Emergency Medical Services data, and 60 (22.8%) through other efforts (e.g., emergency departments, community events, outreach). Seventy participants (26.6%) were lost to follow up, substantially more in the home-visit than in the clinic-only group. We describe the HIITBAC methodology and cohort, discuss lessons learned about recruitment and retention, and highlight adaptations we implemented to address these lessons.


Subject(s)
Asthma/ethnology , Asthma/therapy , Black or African American , House Calls/statistics & numerical data , Patient Education as Topic/organization & administration , Comorbidity , Emergency Service, Hospital/statistics & numerical data , Female , Humans , Longitudinal Studies , Male , Patient-Centered Care/organization & administration , Quality of Life , Research Design , Respiratory Function Tests , Self-Management , Severity of Illness Index
16.
Proc Natl Acad Sci U S A ; 116(49): 24480-24485, 2019 12 03.
Article in English | MEDLINE | ID: mdl-31740598

ABSTRACT

Gender is one of the central categories organizing children's social world. Clear patterns of gender development have been well-documented among cisgender children (i.e., children who identify as a gender that is typically associated with their sex assigned at birth). We present a comprehensive study of gender development (e.g., gender identity and gender expression) in a cohort of 3- to 12-y-old transgender children (n = 317) who, in early childhood, are identifying and living as a gender different from their assigned sex. Four primary findings emerged. First, transgender children strongly identify as members of their current gender group and show gender-typed preferences and behaviors that are strongly associated with their current gender, not the gender typically associated with their sex assigned at birth. Second, transgender children's gender identity (i.e., the gender they feel they are) and gender-typed preferences generally did not differ from 2 comparison groups: cisgender siblings (n = 189) and cisgender controls (n = 316). Third, transgender and cisgender children's patterns of gender development showed coherence across measures. Finally, we observed minimal or no differences in gender identity or preferences as a function of how long transgender children had lived as their current gender. Our findings suggest that early sex assignment and parental rearing based on that sex assignment do not always define how a child identifies or expresses gender later.


Subject(s)
Sexual Development/physiology , Transgender Persons/psychology , Child , Child, Preschool , Clothing/psychology , Female , Humans , Male , Siblings , Time Factors , Transsexualism
17.
J Youth Adolesc ; 48(10): 1912-1923, 2019 Oct.
Article in English | MEDLINE | ID: mdl-31520234

ABSTRACT

Most empirical research examining youth's gender development measures felt pressure to conform to gender norms using a composite value of felt pressure from multiple sources; however, because of the different socialization processes at work from parents, peers, and the self, analyzing these sources separately may elucidate different effects on gender development. Thus, the purpose of this study was to (a) differentiate the effects of perceived gender socialization pressure from parents, peers, and the self on early adolescents' own- and other-gender typicality, and (b) to examine whether a bi-directional relation between gender typicality and felt pressure is evident when distinguished across sources. With a sample of 212 early adolescents (54% girls; Mage = 11.11 years), felt pressure was found to be distinguishable by socialization source: adolescents' perceptions of parents, peers, and their own pressures were distinct, and each contributed differently to gender development. Pressure from self and peers were both found to relate concurrently to typicality (i.e., positively to own-gender typicality, negatively to other-gender typicality); only pressure from the self was found to have a longitudinal effect on adolescents' developing gender identity (i.e., an increase in own-gender typicality). Interestingly, other-gender typicality did not elicit higher felt pressure; in fact, it was negatively related to later felt pressure from the self, suggesting that adolescents may be developing self-acceptance of their levels of gender typicality. The findings suggest that the development of gender identity may involve a complex interplay with various sources of socialization pressures (e.g., parent, peers, self), and may further shift in relation to the adolescent's own levels of gender typicality.


Subject(s)
Adolescent Behavior/psychology , Adolescent Development/physiology , Peer Group , Peer Influence , Self Concept , Adolescent , Child , Family Relations/psychology , Female , Humans , Male , Parents , Socialization
18.
Am J Ophthalmol ; 207: 87-98, 2019 11.
Article in English | MEDLINE | ID: mdl-31077665

ABSTRACT

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a rare finding in patients with genetic forms of microcephaly. This study documents the detailed phenotype and expands the range of genetic heterogeneity. DESIGN: Retrospective case series. METHODS: Twelve patients (10 families) with a diagnosis of FEVR and microcephaly were ascertained from pediatric genetic eye clinics and underwent full clinical assessment including retinal imaging. Molecular investigations included candidate gene Sanger sequencing, whole-exome sequencing (WES), and whole-genome sequencing (WGS). RESULTS: All patients had reduced vision and nystagmus. Six were legally blind. Two probands carried bi-allelic LRP5 variants, both presenting with bilateral retinal folds. A novel homozygous splice variant, and 2 missense variants were identified. Subsequent bone density measurement identified osteoporosis in one proband. Four families had heterozygous KIF11 variants. Two probands had a retinal fold in one eye and chorioretinal atrophy in the other; the other 2 had bilateral retinal folds. Four heterozygous variants were found, including 2 large deletions not identified on Sanger sequencing or WES. Finally, a family of 2 children with learning difficulties, abnormal peripheral retinal vasculogenesis, and rod-cone dystrophy were investigated. They were found to have bi-allelic splicing variants in TUBGCP6. Three families remain unsolved following WES and WGS. CONCLUSIONS: Molecular diagnosis has been achieved in 7 of 10 families investigated, including a previously unrecognized association with LRP5. WGS enabled molecular diagnosis in 3 families after prior negative Sanger sequencing of the causative gene. This has enabled patient-specific care with targeted investigations and accurate family counseling.


Subject(s)
Abnormalities, Multiple , Familial Exudative Vitreoretinopathies/genetics , Kinesins/genetics , Low Density Lipoprotein Receptor-Related Protein-5/genetics , Microcephaly/genetics , Microtubule-Associated Proteins/genetics , Mutation , Adolescent , Child , Child, Preschool , DNA/genetics , DNA Mutational Analysis , Electroretinography , Familial Exudative Vitreoretinopathies/diagnosis , Familial Exudative Vitreoretinopathies/metabolism , Female , Fluorescein Angiography , Fundus Oculi , Humans , Infant , Kinesins/metabolism , Low Density Lipoprotein Receptor-Related Protein-5/metabolism , Male , Microcephaly/diagnosis , Microcephaly/metabolism , Microtubule-Associated Proteins/metabolism , Pedigree , Phenotype , Retrospective Studies , Tomography, Optical Coherence
19.
Nat Genet ; 51(1): 96-105, 2019 01.
Article in English | MEDLINE | ID: mdl-30478443

ABSTRACT

DNA methylation and Polycomb are key factors in the establishment of vertebrate cellular identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes the DNA methyltransferase DNMT3A. These mutations cause microcephalic dwarfism, a hypocellular disorder of extreme global growth failure. Substitutions in the PWWP domain abrogate binding to the histone modifications H3K36me2 and H3K36me3, and alter DNA methylation in patient cells. Polycomb-associated DNA methylation valleys, hypomethylated domains encompassing developmental genes, become methylated with concomitant depletion of H3K27me3 and H3K4me3 bivalent marks. Such de novo DNA methylation occurs during differentiation of Dnmt3aW326R pluripotent cells in vitro, and is also evident in Dnmt3aW326R/+ dwarf mice. We therefore propose that the interaction of the DNMT3A PWWP domain with H3K36me2 and H3K36me3 normally limits DNA methylation of Polycomb-marked regions. Our findings implicate the interplay between DNA methylation and Polycomb at key developmental regulators as a determinant of organism size in mammals.


Subject(s)
DNA (Cytosine-5-)-Methyltransferases/genetics , DNA Methylation/genetics , Dwarfism/genetics , Gain of Function Mutation/genetics , Microcephaly/genetics , Polycomb-Group Proteins/genetics , Animals , Cell Line, Tumor , Cells, Cultured , DNA Methyltransferase 3A , DNA Modification Methylases/genetics , Female , HeLa Cells , Histones/genetics , Humans , Male , Mice , Mice, Transgenic/genetics , Protein Binding/genetics , Regulatory Sequences, Nucleic Acid/genetics
20.
J Abnorm Child Psychol ; 47(5): 839-850, 2019 05.
Article in English | MEDLINE | ID: mdl-30417252

ABSTRACT

Little is known about youth's initial interactions with previously unfamiliar peers and how aggression can affect behavior in these interactions. We observed previously unfamiliar youth engaging in a dyadic activity to determine how tendencies toward aggression related to behavior within the activity (i.e., collaboration) and how collaboration affected initial impression formation. From a dyadic perspective, we assessed how similarities versus differences in tendencies toward aggression affected the nature of the interaction. Participants were 108 5th grade dyads (M = 11.13 years; 50% female; 67% White), observed in a laboratory session. Teachers rated individuals' aggression; ratings were used to calculate dyadic-level aggression (the discrepancy between partners). Observers rated dyads' collaboration during the interaction and participants reported perceptions about their partner after the interaction. Results indicated that collaboration mediated the link between discrepancy in aggression and peers' perceptions of one another. Specifically, dyads more discrepant in their aggression collaborated less and had less positive perceptions of one another. Results highlight the importance of considering a dyadic perspective and indicate a potential intervention point to improve youth's peer relationships.


Subject(s)
Aggression/psychology , Child Behavior/psychology , Cooperative Behavior , Interpersonal Relations , Peer Group , Child , Female , Humans , Male
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