Marsha R. Mailick

A Longitudinal Examination of 10-Year Change in Vocational and Educational Activities for Adults With Autism Spectrum Disorders

The transition from adolescence to adulthood has been shown to be a time of amplified risk for individuals with autism spectrum disorders (ASD). It is unknown, however, whether problems in educational attainment and employment in the years after high school exit represent momentary perturbations in development or a turning point with long-lasting effects throughout adulthood. The present study addressed this question by examining 10-year trajectories of vocational and educational activities for adults with ASD, as well as the personal characteristics and environmental resources that predicted these activities. Participants were 161 adults with ASD (ages 18-52 years at the start of the study; M = 30.9) who were part of a larger longitudinal study. Data were collected at 6 time points over a 10-year period. Results indicated significant declines in the level of independence and engagement in vocational/educational activities over the study period, particularly for women. Greater independence in vocational activities was found for those with more independence in activities of daily living. After controlling for personal characteristics, receipt of more services was marginally related to greater improvement in vocational independence.

Associated features in females with an FMR1 premutation

Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested.

FMR1 CGG expansions: Prevalence and sex ratios

We have estimated the prevalence of FMR1 premutation and gray zone CGG repeat expansions in a population‐based sample of 19,996 male and female adults in Wisconsin and compared the observed sex ratios of the prevalence of FMR1 CGG premutation and gray zone expansions to theoretical sex ratios. The female premutation prevalence was 1 in 148 and comparable to past research, but the male premutation prevalence of 1 in 290 is somewhat higher than most previous estimates. The female:male premutation prevalence ratio is in line with the theoretically predicted sex ratio. The prevalence of CGG repeats in the gray zone (45–54 repeats) was 1 in 33 females and 1 in 62 males. The prevalence of the “expanded” gray zone (defined here as 41–54 CGG repeats) was 1 in 14 females and 1 in 22 males, leading to a female:male ratio of 1.62 (95% confidence interval 1.39–1.90). This female:male ratio was significantly lower than the expected ratio of 2.0. We examined results from three previously published FMR1 prevalence studies and found similar female:male ratios for CGG repeats in this “expanded” gray zone range (pooled female:male ratio across all four studies 1.66, 95% confidence interval 1.51–1.82). Further research is needed to understand the apparent excess prevalence of males with CGG repeats in this range.

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.

Longitudinal patterns of employment and postsecondary education for adults with autism and average-range IQ

This study examined correlates of participation in postsecondary education and employment over 12 years for 73 adults with autism spectrum disorders and average-range IQ whose families were part of a larger, longitudinal study. Correlates included demographic (sex, maternal education, paternal education), behavioral (activities of daily living, maladaptive behaviors, autism symptoms), and family (size of maternal social network; maternal depressive symptoms, anxiety, and pessimism) factors. Although two-thirds of adults with autism spectrum disorder participated in competitive employment/postsecondary education during the study, fewer than 25% maintained these activities over the study period. Behavioral characteristics distinguished those who never had competitive employment/postsecondary education from those who sometimes or consistently participated in these activities. Women were considerably less likely than men to maintain employment/postsecondary education over time.

The effects of normal aging on amyloid-β deposition in nondemented adults with Down syndrome as imaged by carbon 11-labeled Pittsburgh compound B.

In Down syndrome (DS), the overproduction of amyloid precursor protein is hypothesized to predispose young adults to early expression of Alzheimer‐like neuropathology.

The family context of autism spectrum disorders: influence on the behavioral phenotype and quality of life.

This article reports the findings from a longitudinal program of research examining the bidirectional influences of the family environment on the behavioral phenotype of autism, and describes a newly developed family psychoeducation program, titled Transitioning Together, designed to reduce family stress, address behavior problems, and improve the overall quality of life of adolescents with autism and their families. A case study is presented that illustrates how Transitioning Together helps reduce family stress and improve the overall quality of the family environment. The article concludes with a discussion of directions for future research on best practices in working with families of children, adolescents, and adults with autism.

Strategies from UW-Madison for rescuing biomedical research in the US

A cross-campus, cross-career stage and cross-disciplinary series of discussions at a large public university has produced a series of recommendations for addressing the problems confronting the biomedical research community in the US. DOI: http://dx.doi.org/10.7554/eLife.09305.001

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.