Marsha Mailick

Marsha Mailick
University of Wisconsin–Madison | UW · Waisman Center

About

297
Publications
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Publications

Publications (297)
Article
Full-text available
Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In o...
Article
Full-text available
Background Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, is significantly underdiagnosed in the general population. Diagnosing FXS is challenging due to the heterogeneity of the condition, subtle physical characteristics at the time of birth and similarity of phenotypes to other conditions. The med...
Article
Full-text available
This study examined differences in mother–child relationship quality and parent-rated child behavior problems based on child verbal status (i.e., minimally verbal versus verbal) in mothers and their adolescent and adult children with autism spectrum disorder (n = 219 dyads; child Mage = 25.38 years, SD = 10.22). Relationship quality was assessed vi...
Article
The FMR1 premutation has been associated with difficulties in executive functioning, including verbal inhibition. However, little is known about the longitudinal profiles of verbal inhibition among FMR1 premutation carriers, particularly in women, and how individual factors such as aging and CGG repeat length may contribute to changes in verbal inh...
Article
This study investigated the bidirectional effects of change in maladaptive behaviors among adolescents and adults with fragile X syndrome (FXS) and change in their intergenerational family relationships over a 7.5-year period. Indicators of the intergenerational family relationship between premutation carrier mothers and their adolescent or adult s...
Article
Full-text available
Background Adults with autism spectrum disorder (ASD) have lower engagement in their communities, higher rates of unemployment/underemployment, and continued difficulties with challenging behavior compared to their neurotypical peers. Multi-family psychoeducation emphasizes education and problem-solving with the goal of improving these outcomes for...
Article
Objective There is increasing interest in the role of contextual factors in promoting well-being among parents of children with developmental disabilities. This study aimed to examine whether social network types moderate the impacts of having a child with a developmental disability on parents' health. Methods Using cross-sectional data from the M...
Article
Full-text available
FMR1 CGG repeat length was assayed in 5499 research participants (2637 men and 2862 women) in the Wisconsin Longitudinal Study (WLS), a population-based cohort. Most past research has focused on clinically-ascertained individuals with expansions in CGG repeats, either those with fragile X syndrome (> 200 CGG repeats), the FMR1 premutation (55–200 r...
Article
The purpose of the present study was to investigate the hypothesis that women with autism have poorer health compared with men with autism, and compared with women without autism. Utilizing electronic health records drawn from a single health care system serving over 2 million individuals, 2119 adults with diagnosed autism spectrum disorders were c...
Article
Background: Premutation-sized (55-200) CGG repeat expansions in the FMR1 gene cause fragile X-associated tremor/ataxia syndrome (FXTAS). Most studies of premutation carriers utilized reverse ascertainment to identify patients, leading to a selection bias for larger repeats. As shorter CGG premutation repeats are common in the population, understan...
Article
Objectives: This study describes a major effort to reinstate dropouts from the MIDUS longitudinal study and compare baseline characteristics among subgroups of participants to better understand predictors of retention, attrition, and reinstatement. Methods: All living dropouts were contacted, and 651 reinstated participants were interviewed in pers...
Article
To investigate genetic and environmental influences on cortisol levels, mothers of children with fragile X syndrome (FXS) were studied four times over a 7.5-year period. All participants (n=84) were carriers of the FMR1 “premutation”, a genetic condition associated with impaired HPA axis functioning. Genetic variation was indicated by expansions in...
Article
Full-text available
Purpose Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individu...
Article
Although adoption is a widespread phenomenon in the United States, little research has examined the effects on biological siblings. This article uses two representative datasets to compare educational attainments of individuals who grew up with an adopted sibling and those that did not. We find large heterogeneity (based on sex, family income, and...
Preprint
Full-text available
Background. Adults with autism spectrum disorder (ASD) have lower participation in post-secondary education, higher rates of unemployment/underemployment, and continued difficulties with challenging behavior and mental health problems compared to their peers. Multi-family psychoeducation emphasizes education and problem-solving with the goal of imp...
Poster
Full-text available
This study uses data from National Survey of Midlife in the U.S. (MIDUS) to examine the effect of bereavement on physiological dysregulations in African American adults, with moderating effects of gender. Models were estimated using data from 210 Non-Hispanic African American respondents who participated in MIDUS 2 (M2: 2004-2005) and the biomarker...
Article
Full-text available
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 t...
Article
About 30% of adults with autism are minimally verbal. Past research suggested that after age five, few gain verbal fluency, but studies have rarely investigated whether family environmental factors contribute to the acquisition of verbal fluency. The present study utilized data from the Autism Diagnostic Interview-Revised to compare changes in verb...
Article
Full-text available
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 rev...
Article
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 eff...
Article
Full-text available
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 fa...
Article
Full-text available
There are four classes of CGG repeat alleles in the FMR1 gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200 repeats; those between 55 and 200 CGGs are considered FMR1 premutation alleles, because they are associated with maternal expansions of the number of CGGs in the next generation and finally, allele...
Article
Full-text available
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...
Preprint
Full-text available
Background : The FMR1 gene is essential for neural development and healthy synaptic function. The modal number of CGG repeats in FMR1 is 30, but the range is large with the reported copy number extending down to as few as 6 CGGs and up to over 200 CGGs, conferring fragile X syndrome. Prior work suggests that behavioral phenotypes, including cogniti...
Preprint
Full-text available
Background: The FMR1 gene is essential for neural development and healthy synaptic function. The modal number of CGG repeats in FMR1 is 30, but the range is large with the reported copy number extending down to as few as 6 CGGs and up to over 200 CGGs. Prior work suggests that behavioral phenotypes, including cognitive function, may vary along the...
Article
Individuals who carry a premutation (PM) allele on the FMR1 gene may experience executive limitations associated with their genetic status, including inhibition deficits. However, poor understanding of individualized risk factors has limited clinical management of this group, particularly in mothers who carry the PM allele who have children with fr...
Article
Full-text available
The negative impact of having a child with special needs on parental well-being is well documented. Previous research has suggested age attenuation of these impacts. However, this has not yet been examined longitudinally in late life. Therefore, it is unclear how the effect of having a child with a developmental disability or mental health problem...
Article
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...
Article
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...
Article
Full-text available
Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder, impacting social communication and in some individuals, aspects of language such as vocabulary diversity. However, we have only a limited understanding of the verbal language abilities of adults with ASD. The present longitudinal study examined conversational language and its...
Article
We examined the benefit of emotional support on daily health in premutation carrier mothers of adolescents and adults with fragile X syndrome ( n = 114), and whether this benefit was moderated by the mother's genetic status ( FMR1 CGG repeat length). In an 8-day daily diary, maternal daily health was assessed subjectively through self-reported numb...
Article
Full-text available
The impact of the FMR1 premutation on human health is the subject of considerable controversy. A fundamental unanswered question is whether carrying the premutation allele is directly correlated with clinical phenotypes. A challenging problem in past genotype-phenotype studies of the FMR1 premutation is ascertainment bias, which could lead to inval...
Article
Full-text available
Objective: The death of a child is a traumatic stressor that takes a toll on the health of parents. This study examined long-term impacts of the death of a child on the risk of early mortality in bereaved parents. In a follow-up analysis, a twin subsample was analyzed to examine potential genetic confounding. Method: We analyzed data from the Mi...
Article
Full-text available
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 a...
Data
QQ plots for (A) FC-FS, (B) MC-FS, (C) FC-MS, and (D) MC-MS. (PNG)
Data
A suggestively significant locus (17q11.2) for MC-MS. (PNG)
Data
Heatmap of correlations among ratings of different coders. Coders who rated more than 500 photos in 2008 were analyzed. Color indicates different level of correlation. All correlations shown in the figure were statistically significant after Bonferroni correction. (PNG)
Data
Manhattan plot for MC-AS. The horizontal lines denote the genome-wide significance cutoff of 5.0e-8 and a suggestive cutoff of 1.0e-6, respectively. The closest gene at each suggestively significant locus was labeled. (PNG)
Data
QQ plots for (A) FC-AS and (B) MC-AS. (PNG)
Data
Suggestively significant loci associated with MC-AS. (A) Associations at locus 2q22.1; (B) Associations at locus 20q13.11. (PNG)
Data
Manhattan plots for (A) FC-FS, (B) FC-MS, and (C) MC-MS. The horizontal lines denote the genome-wide significance cutoff of 5.0e-8 and a suggestive cutoff of 1.0e-6, respectively. The closest gene at each suggestively significant locus was labeled. (PNG)
Data
Suggestively significant loci associated with FC-MS. (A) Associations at locus 1q21.3; (B) Associations at locus 5p15.31; (C) Associations at locus 12q12. (PNG)
Data
Number of yearbook photos rated by each coder. Coders who rated more than 500 male or female samples’ photos were included in association analyses based on single coders’ scoring. Coders with too few sample size were omitted from this figure. (PNG)
Data
Histograms of variance and interval sizes (max-min) of attractiveness ratings. (PNG)
Data
Multi-tissue gene expression profile of (A) ANTXRL and (B) ANTXRLP1 in GTEx. Blue and red boxes represent data based on male and female samples, respectively. Both ANTXRL and ANTXRLP1 have higher expression in testis than in other tissues, but the absolute expression values are low. (PNG)
Data
Principal components plot for WLS and 1000 Genomes samples. Deep blue circles represent individuals with European ancestry in 1000 Genome (EUR), orange and light blue circles represent WLS samples with self-reported European ancestry (labeled as WLS) and missing but genetically confirmed ancestry information (labeled as REP). (PNG)
Data
Suggestively significant loci for facial attractiveness. (XLSX)
Data
Sex-specific effects of 4 loci identified for FC-AS and MC-AS. (XLSX)
Data
Tissue-specific heritability enrichment for attractiveness traits. Top five tissues with the highest z-scores were listed for each tissue. MC-MS was not included in the table because no tissue had positive z-scores in our analysis. (XLSX)
Data
eQTL effects of leading SNPs associated with facial attractiveness. (XLSX)
Data
Gene-level associations for facial attractiveness in cross-tissue transcriptome-wide association analyses. (XLSX)
Data
50 complex traits covering a variety of complex human phenotypes with publicly accessible GWAS summary statistics. (PDF)
Data
Suggestively significant loci associated with FC-FS. (A) Associations at locus 17p13.3; (B) Associations at locus 8q24.11. (PNG)
Data
A suggestively significant locus (11p15.2) for MC-FS. (PNG)
Data
Results of X-chromosome wide association analysis. For traits FC-AS and MC-AS, associated loci with p<1e-4 in meta-analysis are shown in the table. For FC-FS, MC-FS, MC-MS, and FC-MS, loci with p<1e-4 in sex-stratified analyses are shown. (XLSX)
Data
A suggestively significant locus (6p25.1) associated with FC-AS. (PNG)
Data
Attractiveness association signals at identified loci across different coders. (PNG)
Data
Manhattan plots for gene-level associations in cross-tissue transcriptome-wide association analyses. The horizontal line denotes the Bonferroni-corrected significance threshold. (PNG)
Data
Demographic information of study samples. (XLSX)
Data
Heritability estimates based on GEMMA. The GEMMA algorithm did not converge for MC-MS, FC-MS, and MC-FS. (XLSX)
Data
Information about the six dermatological traits in the UK Biobank. (XLSX)
Data
Enrichment for associations with six dermatological traits among attractiveness-associated SNPs. (XLSX)
Data
Genetic covariance between 6 facial attractiveness traits and 50 complex human traits. (XLSX)
Article
The present longitudinal study investigated changes in service receipt and unmet service needs spanning 14 years before and after high school exit in a large community‐based sample of individuals with autism spectrum disorder (ASD) (n = 204), of whom 59% had co‐occurring intellectual disability (ID). Using multilevel models, potential discontinuity...
Article
Neuroticism is a stable and heritable personality trait that is strongly linked to depression. Yet, little is known about its association with late life depression, as well as how neuroticism eventuates into depression. This study used data from the Wisconsin Longitudinal Study (WLS; N = 4,877) to examine the direct and indirect effects of neurotic...
Article
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 spect...
Article
Full-text available
OBJECTIVE: Parents of individuals with developmental disorders or mental health problems often provide life-long care and support to their children, which negatively affects their health in part due to chronic stress. This study aimed to examine the experience of stigma as a source of chronic stress among parents of individuals with developmental...
Chapter
Parenting a child with developmental or mental health problems is a lifelong process that entails unique challenges and adjustments. Parents of children with these conditions often experience chronic stress and are at elevated risk of themselves experiencing mental and physical health problems and cognitive decline in later life, although profiles...
Article
The present study investigated the effects of children without disabilities on maternal physical and mental health in families with adolescents or adults with fragile X syndrome. Mothers with the FMR1 premutation ( N = 87) reported on behavior problems and functional limitations of their adolescent or adult child with fragile X syndrome and their o...