Genome-wide association study reveals sex-specific genetic architecture of facial attractiveness.

Facial attractiveness is a complex human trait of great interest in both academia and industry. Literature on sociological and phenotypic factors associated with facial attractiveness is rich, but its genetic basis is poorly understood. In this paper, we conducted a genome-wide association study to discover genetic variants associated with facial attractiveness using 4,383 samples in the Wisconsin Longitudinal Study. We identified two genome-wide significant loci, highlighted a handful of candidate genes, and demonstrated enrichment for heritability in human tissues involved in reproduction and hormone synthesis. Additionally, facial attractiveness showed strong and negative genetic correlations with BMI in females and with blood lipids in males. Our analysis also suggested sex-specific selection pressure on variants associated with lower male attractiveness. These results revealed sex-specific genetic architecture of facial attractiveness and provided fundamental new insights into its genetic basis.

FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.

This study investigated the association of genotype (CGG repeats in FMR1) and the health and well-being of 5,628 aging adults (mean age = 71) in a population-based study. Two groups were contrasted: aging parents who had adult children with developmental or mental health disabilities (n = 785; the high-stress parenting group) and aging parents of healthy children who did not have disabilities (n = 4843; the low-stress parenting group). There were significant curvilinear interaction effects between parenting stress group and CGG repeats for body mass index and indicators of health and functional limitations, and the results were suggestive of interactions for limitations in cognitive functioning. Parents who had adult children with disabilities and whose genotype was two standard deviations above or below the mean numbers of CGGs had poorer health and functional outcomes at age 71 than parents with average numbers of CGGs. In contrast, parents who had healthy adult children and who had similarly high or low numbers of CGG repeats had better health and functional outcomes than parents with average numbers of CGGs. This pattern of gene by environment interactions was consistent with differential susceptibility or the flip-flop phenomenon. This study illustrates how research that begins with a rare genetic condition (such as fragile X syndrome) can lead to insights about the general population and contributes to understanding of how genetic differences shape the way people respond to environments. © 2017 Wiley Periodicals, Inc.

Trajectories of internalizing and externalizing symptoms among adults with autism spectrum disorders.

Individuals with autism spectrum disorder (ASD) experience higher rates of psychopathology than their typically developing peers or peers with other intellectual or developmental disabilities. Little is known about the developmental course of psychiatric symptoms such as internalizing and externalizing behaviors in this population. Individual characteristics and aspects of the family environment may explain variability in outcomes for adults with ASD. The present study extends our current understanding of psychopathology among individuals with ASD by examining group-based trajectories of internalizing and externalizing symptoms in adulthood. Overall, the results showed that symptoms became less severe over time. Distinct patterns of change in psychopathology were observed and associated with differential profiles of psychotropic medication use, comorbid mental health diagnoses, and residential placement. The likelihood of following each developmental trajectory was estimated based on characteristics of the adults with ASD (gender, adaptive behavior, and autistic symptoms) and maternal expressed emotion (criticism and warmth). Maternal criticism and warmth were identified as key risk and protective factors, respectively, with important implications for future research and intervention for individuals with ASD.

Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions.

In a sample of post-menopausal premutation carrier mothers of children with the full mutation of fragile X syndrome (n = 88), this study examined the co-occurrence of the reproductive and psychiatric phenotypes associated with FMR1 premutations. Mean age at menopause was 43.1 years, and 35.2% of premutation carriers reported cessation of menses prior to age 40 (premature ovarian failure), but only 18% of carriers had been medically diagnosed by a physician as having Fragile X-associated Primary Ovarian Insufficiency. There was a significant curvilinear association between CGG repeat length and age at menopause, with women who had mid-range repeats having the earliest menopause, similar to the pattern that has been found for the psychiatric phenotype of the FMR1 premutation.

Language dysfluencies in females with the FMR1 premutation.

Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a group of 193 women with the premutation, and to contrast them with a comparison group (mothers of children with autism spectrum disorders). Our results demonstrate a linguistic profile in the female premutation carriers characterized by dysfluencies associated with deficits in organization and planning, with a clear impact of age. The comparison group, matched on both age and education level, did not demonstrate the age effect. Our results suggest dysfluencies could be an early indicator of cognitive aging in some female premutation carriers, and could be used to target early intervention.

Adults with autism: outcomes, family effects, and the multi-family group psychoeducation model.

Although an increasing number of individuals with autism spectrum disorders are entering adulthood, currently there are few evidence-based programs for individuals later in the life course. In this paper we present an overview of recent research on outcomes for adolescents and adults with ASD and highlight the role of the family for individuals with ASD during the transition to adulthood. We also discuss multi-family group psychoeducation as a promising model for use with individuals with ASD who are transitioning to adulthood.

Stressful life events and daily stressors affect awakening cortisol level in midlife mothers of individuals with autism spectrum disorders.

OBJECTIVES: The current study examines the awakening cortisol level in midlife mothers (M = 51.4 years old, SD = 8.4) of individuals (M = 22.1 years old, SD = 7.1) with autism spectrum disorders (ASD) under stressful conditions that are not specific to their son or daughter's ASD symptoms. METHODS: In addition to completing a set of questionnaires and in-home interviews, 82 mothers from the Adolescents and Adults with Autism Study (AAA) participated in a Daily Diary Study. RESULTS: Findings from the multilevel models indicated that mothers who previously were exposed to no negative life events in the previous period had an increased awakening cortisol level on days following a greater number and more severe stressors, a normative stress response. In contrast, we observed a flatter cortisol level of daily stressors in mothers who experienced a greater number of negative life events in the previous period. CONCLUSION: These findings highlight the sustained toll that global and everyday stressors have on awakening cortisol level of midlife and aging mothers of individuals with ASD.

Prevalence of CGG expansions of the FMR1 gene in a US population-based sample.

The primary goal of this study was to calculate the prevalence of the premutation of the FMR1 gene and of the "gray zone" using a population-based sample of older adults in Wisconsin (n = 6,747 samples screened). Compared with past research, prevalence was relatively high (1 in 151 females and 1 in 468 males for the premutation and 1 in 35 females and 1 in 42 males for the gray zone as defined by 45-54 CGG repeats). A secondary study goal was to describe characteristics of individuals found to have the premutation (n = 30, 7 males and 23 females). We found that premutation carriers had a significantly higher rate of divorce than controls, as well as higher rates of symptoms that might be indicative of fragile X-associated tremor ataxia syndrome (FXTAS; numbness, dizziness/faintness) and fragile X primary ovarian insufficiency (FXPOI; age at last menstrual period). Although not statistically significant, premutation carriers were twice as likely to have a child with disability.

Parenting a Child with a Disability: The Role of Social Support for African American Parents.

This paper examines: (1) the impact of having a child with a disability on parents' mental and physical health among urban-dwelling African Americans and (2) the extent to which positive and negative social interactions with family other than the spouse moderate the impact of child's disability on parental adaptation. Analyses are based on a probability sample of African Americans living in Milwaukee, Wisconsin. The analytic sample includes 48 parents of a child with a disability and 144 comparison group parents of non-disabled children. Results showed that having a child with a disability is associated with more somatic symptoms. However, the negative consequences of the child's disability on parents' mental health are reduced when parents receive greater positive support from family.

Machine learning approach to measurement of criticism: The core dimension of expressed emotion.

Expressed emotion (EE), a measure of the family's emotional climate, is a fundamental measure in caregiving research. A core dimension of EE is the level of criticism expressed by the caregiver to the care recipient, with a high level of criticism a marker of significant distress in the household. The Five-Minute Speech Sample (FMSS), the most commonly used brief measure of EE, requires time-consuming manual processing and scoring by a highly trained expert. In this study, we used natural language processing and supervised machine learning techniques to develop a fully automated framework to evaluate caregiver criticism level based on the verbatim transcript of the FMSS. The success of the machine learning algorithm was established by demonstrating that the classification of maternal caregivers as high versus low EE was consistent with the classification of these 298 maternal caregivers of adult children with schizophrenia using standard manual coding procedures, with area under the receiver operating characteristic curve (AUROC) of 0.76. Evidence of construct validity was established by demonstrating that maternal caregivers of adults with schizophrenia, who were classified as having a high level of criticism had higher levels of caregiver burden, reported that their child had more psychiatric symptoms and behaviors and perceived that their child had greater control over these symptoms and behaviors. Additionally, maternal caregivers who had high levels of criticism reported having a poorer quality of relationship with their child with schizophrenia than maternal caregivers low on criticism. Rapid measurement of criticism facilitates the incorporation of this dimension into research across a broad range of caregiving contexts. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

The impact of parenting a child with serious mental illness: Accounting for the parent's genetic vulnerability to mental illness.

Parents of adults with serious mental illness (SMI) often are primary caregivers for their affected relative. Prior work has suggested that the toll of caregiving is associated with poorer well-being in family caregivers, particularly parents of affected adults. However, due to methodological limitations, it has not been possible to assess these family caregivers' own genetic vulnerability to mental and physical health problems, and thus the impact of caregivers' genetic risk on well-being may not have been accounted for. With the addition of genetic data to large survey samples, family caregivers' genetic vulnerability to mental and physical health problems can now be estimated. Parents from the Wisconsin Longitudinal Study who have an adult child with an SMI (n = 265) and a comparison group of parents with a child without disabilities (n = 5,036) reported their psychological well-being and mental and physical health across 4 measures. Genetic vulnerability was assessed using polygenic risk scores of neuroticism, bipolar disorder, schizophrenia, and depression. Results indicate that the effect of having a child with an SMI still had significant effects for all 4 parental health outcomes even after controlling for these measures of genetic vulnerability. This study's results affirm the negative health impact of parenting a child with SMI, above and beyond genetic vulnerability. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

Apolipoprotein ɛ4 Allele and Subjective Cognitive Functioning in Parents of Adults With Disabilities.

OBJECTIVES: Parents of individuals with disabilities face ongoing responsibilities of providing care and support for their children, even during the child's adulthood. Past research has shown that this caregiving role is linked to chronic stress and subsequent adverse health outcomes for parents, including impaired cognition. This study examines the impacts of genetic risk for cognitive impairment (apolipoprotein [APOE] ɛ4 allele) among parents of adults with disabilities and comparison parents whose adult children do not have disabilities. METHOD: We performed rank order regression analysis of data from the Wisconsin Longitudinal Study (2004-2006 and 2010-2012 surveys and DNA samples). Participants included parents of adults with disabilities (247 mothers and 159 fathers) and comparison parents whose adult children were not disabled (1,482 mothers and 954 fathers). RESULTS: Mothers who had adult children with disabilities and who were APOE ɛ4 carriers reported significantly declining levels of subjective cognitive functioning over time, but mothers of adults with disabilities who did not have the APOE ɛ4 allele did not manifest this change. Among comparison group mothers, cognitive change over time was not a function of their APOE ɛ4 carrier status. Fathers' cognitive function did not differ significantly by either parental status or APOE ɛ4 carrier status. DISCUSSION: The results show that older mothers of adults with disabilities are more susceptible to cognitive impairment than their age peers if they have the genetic risk factor of APOE ɛ4 allele.

Generativity and Well-Being of Midlife and Aging Parents With Children With Developmental or Mental Health Problems.

Parents who have a child with a developmental problem or mental disorder often provide support and assistance to their child throughout their lives, and the burden of caregiving can have an adverse impact on parents' mental and physical health. Using Erikson's theory as a framework, the present study investigated generativity as a moderator of the effects of parenting a child with a disability on parents' well-being during mid- to late life. Using data from the study of Midlife in the United States, we identified 220 parents who had a child with a disability and 3,784 parents whose children did not have a disability. Regression analyses showed that the effect of parenting a child with a disability on negative affect, positive affect, and physical health was conditional on both parental gender and generativity, with mothers experiencing greater adverse effects of parenting but showing a benefit from high levels of generativity.

Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability: Longitudinal Trends Over a Decade.

This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling revealed early increases in daily living skills, with decreases at older ages. Behavior problems became less severe over time, with some increases at older ages. Individuals gained weight and had increasing health problems over time. Fewer ASD symptoms were associated with greater daily living skills and fewer behavior problems at study start. This study offers some of the first prospective quantitative analyses of behavioral and health life course trajectories in FXS.

Effects of parenting adults with disabilities on later-life health: The role of intergenerational ambivalence.

According to family systems theory, strains from parenting an adult with disabilities may spill over to parents' relationships with their other children and disrupt family dynamics and their well-being in later-life. This study examined whether parental ambivalence toward their nondisabled children is greater in families of adults with disabilities (developmental disabilities [DD] or serious mental illnesses [SMI]) than families without any adult children with disabilities. The study also investigated whether ambivalence mediates the associations between having an adult child with DD or SMI and parents' health. Data were from the 2011 Wisconsin Longitudinal Study in which aging parents (Mage = 71; n = 6,084) were asked about their relationship with each of their adult children. Multilevel regression models and multilevel structural equation models were estimated to analyze the data. Our findings showed that parents of an adult with SMI felt greater ambivalence toward their nondisabled adult children than comparison group parents of adult children without disabilities, whereas no significant differences were found between parents of an adult child with DD and comparison group parents. Parental ambivalence toward their nondisabled adult children played a significant indirect role in the negative association between having a child with SMI and parental physical and mental health. The findings have implications for clinical practice with aging families of adults with disabilities and suggest the need for additional research to better understand intergenerational parent-adult child dynamics in these families. (PsycINFO Database Record (c) 2020 APA, all rights reserved).

Longitudinal changes in well-being of parents of individuals with developmental or mental health problems.

RATIONALE: A large body of work demonstrates the impact of caregiving burden on the well-being of parents of individuals with developmental conditions or mental health problems. However, a relative dearth of research examines this impact longitudinally into parents' older age. OBJECTIVE: The current study examines (1) longitudinal changes in the effect of having a child with a developmental or mental health problem on parental negative affect, psychological well-being, and somatic symptoms, (2) age and gender moderations on these effects, and (3) the unique impact of factors related to the child's condition. METHOD: This study employs hierarchical linear regression models to examine longitudinal survey data from midlife adults (N = 1,101) from two waves of the National Study of Midlife in the United States (MIDUS). RESULTS: Models revealed some evidence for age attenuation of the impact of caregiving stress. Parents of children with developmental problems still had higher negative affect, poorer psychological well-being, and more somatic symptoms on average than parents in a comparison sample, whereas parents of children with mental health problems only showed evidence of higher negative affect compared to this sample. Within-group analyses also revealed differences between each parenting group into later adulthood. CONCLUSIONS: Parents of individuals with developmental or mental health problems may be at risk for poorer well-being late in life. Yet, age and gender differences as well as diagnostic group differences nuance these findings.

FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress.

The FMR1 gene on the X chromosome has varying numbers of CGG repeats. The modal number is 30, and expansion to >200 results in fragile X syndrome, but the copy number extends down to 6. Past research suggests that individuals whose CGGs are in the "low zone" (LZ; defined here as ≤ 25 CGGs) may be more environmentally-reactive than those with normal range repeats (26-40 CGGs)-a gene x environment interaction. Using a population-based DNA biobank, in our primary analysis we compared 96 mothers with LZ CGG repeats on both alleles to 280 mothers who had CGG repeats in the normal range. Secondarily, we conducted parallel analyses on fathers. We investigated how parents in these two CGG repeat categories differentially responded to stress, defined as parenting a child with disabilities. Significant gene x environment interactions indicated that LZ mothers who had children with disabilities had greater limitations (in executive functioning, depression, anxiety, daily health symptoms, and balance) than LZ mothers whose children did not have disabilities. In contrast, mothers with normal-range CGG repeats did not differ based on stress exposure. For fathers, a similar pattern was evident for one phenotype only (hand tremors). Although on average LZ CGGs are not associated with compromised functioning, the average masks differential response to the environment.

Parenting an adult child with bipolar disorder in later life.

This study extends prior research on family caregiving in mental illness by investigating late-life parenting of adult children with bipolar disorder using a randomly selected community-based sample. The health and mental health, psychological well-being, marriage, work-life, and social resources of 145 parents of adult children with bipolar disorder were examined when parents were in their mid-60s. Stratified random sampling procedures were used to select a comparison group whose children did not have disabilities. Results indicate that parents of adult children with bipolar disorder had a more compromised profile of health and mental health, and experienced more difficulties in marriage and work-life than comparison parents. Furthermore, parents of adult children with bipolar disorder who were diagnosed with mental illness before the onset of their child's symptoms were more vulnerable on multiple dimensions of mental health, psychological well-being, and work-life than parents without a preexisting mental illness.

Psychosocial and biological markers of daily lives of midlife parents of children with disabilities.

Using daily telephone interviews, 82 midlife parents (mean age = 57.4) of children with disabilities (mean age = 29.9) were compared with a closely matched sample of unaffected parents (N = 82) to elucidate the daily experience of nonnormative parenting. In addition, salivary cortisol samples were obtained to examine whether parents of children with disabilities had dysregulated diurnal rhythms and the extent to which the amount of time spent with children was associated with divergent patterns of cortisol expression. We found that parents of children with disabilities had similar patterns of daily time use and similar likelihood of positive daily events as the comparison group, but they had elevated levels of stress, negative affect, and physical symptoms, all reported on a daily basis. In addition, their diurnal rhythm of cortisol expression differed significantly from the comparison group, a pattern that was strongest for parents of children with disabilities on days when they spent more time with their children.

Mortality in individuals with autism spectrum disorder: Predictors over a 20-year period.

Research has shown that individuals with autism spectrum disorder have higher rates of health problems throughout childhood, adolescence, and adulthood, and that this may result in elevated risk of early mortality. This study reported the rate, timing, and causes of death in a large community-based cohort of adolescents and adults with autism spectrum disorder (n = 406) over a 20-year period (1998-2018) and identified predictors of mortality. Over this period, 6.4% of individuals died at an average age of 39 years. Causes of death included chronic conditions (such as cancer and heart disease), accidents (such as choking on food and accidental poisoning), and health complications due to medication side effects. Even after controlling for age and health status, significant predictors of mortality were early childhood levels of impairments in social reciprocity and high levels of functional impairments at the start of the study period. The results suggest the importance of social engagement and functional self-sufficiency across the life course, as well as adequate access to health care for individuals with autism spectrum disorder.