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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 individuals is unclear and the prevalence of co-occurring conditions is unknown. METHODS: We mined the longitudinal electronic health records from more than one million individuals to investigate the health characteristics of patients who have been clinically diagnosed with FXS. Additionally, using machine-learning approaches, we created predictive models to identify individuals with FXS in the general population. RESULTS: Our discovery-oriented approach identified the associations of FXS with a wide range of medical conditions including circulatory, endocrine, digestive, and genitourinary, in addition to mental and neurological disorders. We successfully created predictive models to identify cases five years prior to clinical diagnosis of FXS without relying on any genetic or familial data. CONCLUSION: Although FXS is often thought of primarily as a neurological disorder, it is in fact a multisystem syndrome involving many co-occurring conditions, some primary and some secondary, and they are associated with a considerable burden on patients and their families.
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Síndrome del Cromosoma X Frágil , Discapacidad Intelectual , Inteligencia Artificial , Síndrome del Cromosoma X Frágil/diagnóstico , Síndrome del Cromosoma X Frágil/epidemiología , Síndrome del Cromosoma X Frágil/genética , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/genética , Aprendizaje Automático , FenotipoRESUMEN
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.
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Envejecimiento/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Responsabilidad Parental/psicología , Estrés Psicológico/genética , Repeticiones de Trinucleótidos/genética , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Interacción Gen-Ambiente , Genotipo , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , PronósticoRESUMEN
Although services are critical for many transition-aged youth, it is unclear the extent to which autistic youth participate in decisions about their services. By exploring the perceptions of autistic youth about their role in services, interventions can be developed to improve their participation. In this study, we interviewed 43 transition-aged youth with autism to explore their involvement in decisions about services. Most youth reported not being involved in decision making about the types and modalities of disability services. When youth were involved in decisions, the services were often related to education. Although youth reported that their parents typically spearheaded decisions about services, youth also reported that their parents often listened to their input. Implications for research, policy, and practice are discussed.
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Trastorno Autístico , Toma de Decisiones , Humanos , Adolescente , Masculino , Femenino , Trastorno Autístico/psicología , Trastorno Autístico/terapia , Adulto Joven , Padres/psicología , Niño , Participación del Paciente , Trastorno del Espectro Autista/psicología , Trastorno del Espectro Autista/terapiaRESUMEN
Autistic adults experience challenges in maintaining employment; however, little is known about patterns of competitive employment through late midlife. This longitudinal study examined the change in hours of competitive employment for a cohort of autistic adults over a 22-year period. The study's aims were to provide a fine-grained analysis of competitive employment patterns, to determine whether there was age-related change, and to test whether trajectories differed between those with and without intellectual disability (ID). Using an accelerated longitudinal design, trajectories of hours of competitive employment were estimated from young adulthood through late midlife in a community-based cohort (n = 341; 1327 observations). Results indicated a significant curvilinear trajectory of age-related change in hours of competitive employment, with differences between those with and without ID. For those without ID, the number of competitive employment hours increased from young adulthood until early midlife, then leveled off and decreased into late midlife. For those with ID, engagement in competitive employment was low throughout. Although competitive employment is just one option for vocational engagement, it is a goal often articulated by autistic adults who seek entry into the general workforce. The present research reveals their degree of engagement in the competitive workforce across the decades of adulthood.
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Autistic individuals and their families are at risk for poor outcomes in employment and mental health and may be vulnerable to long-term effects of broader societal conditions. The aim of the current longitudinal study was to understand the impact of the Great Recession of 2007-2009 on autistic individuals and their mothers (N = 392). Hierarchical linear modeling (HLM) results indicated that problem behavior of autistic adults increased in the years following the recession. The rate at which autistic individuals moved away and lived separately from their mothers also slowed during the recession. Mothers experienced significantly higher levels of depressive symptoms postrecession, compared to prerecession. In many other respects, the autistic individuals and their mothers did not experience negative outcomes, suggesting resilience and a strong safety net. These included the physical health and vocational/employment status of the autistic adults and their mothers. Results point to specific areas of vulnerability of autistic individuals and their mothers during the economic downturn, as well as a broad pattern of resilience in these families.
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Trastorno Autístico , Adulto , Femenino , Humanos , Trastorno Autístico/epidemiología , Trastorno Autístico/psicología , Estudios Longitudinales , Madres/psicología , Salud Mental , EmpleoRESUMEN
BACKGROUND: This study describes change in autism symptoms, behavioral functioning, and health measured prospectively over 22 years. Most studies tracking developmental trajectories have focused on autism during childhood, although adulthood is the longest stage of the life course. A robust understanding of how autistic people change through midlife and into older age has yet to be obtained. METHODS: Using an accelerated longitudinal design with 9 waves of data, developmental trajectories were estimated from adolescence through midlife and into early old age in a community-based cohort (n = 406). The overall aim was to determine whether there were age-related increases or decreases, whether the change was linear or curvilinear, and whether these trajectories differed between those who have ID and those who have average or above-average intellectual functioning. Subsequently, the slopes of the trajectories were evaluated to determine if they differed depending on age when the study began, with the goal of identifying possible cohort effects. RESULTS: There were significant trajectories of age-related change for all but one of the measures, although different measures manifested different patterns. Most autism symptoms improved through adulthood, while health worsened. An inverted U-shaped curve best described change for repetitive behavior symptoms, activities of daily living, maladaptive behaviors, and social interaction. For these measures, improved functioning was evident from adolescence until midlife. Then change leveled off, with worsening functioning from later midlife into early older age. Additionally, differences between autistic individuals with and without ID were evident. Although those who have ID had poorer levels of functioning, there were some indications that those without ID had accelerating challenges in their aging years that were not evident in those with ID - increases in medications for physical health problems and worsening repetitive behaviors. CONCLUSIONS: Meeting the needs of the increasingly large population of autistic adults in midlife and old age requires a nuanced understanding of life course trajectories across the long stretch of adulthood and across multiple domains. Given the heterogeneity of autism, it will be important not to generalize across sub-groups, for example those who are minimally verbal and those who have above-average intellectual functioning.
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Trastorno Autístico , Adulto , Adolescente , Humanos , Trastorno Autístico/complicaciones , Actividades Cotidianas , Envejecimiento , Cognición , Síntomas ConductualesRESUMEN
The present study examined the associations between networks of social relationships and psychological well-being among mothers of adolescents and adults with autism (n = 352) over a 12-year period of time. A structural equation modeling approach was used to delineate the relative impacts of network size and relationship diversity on maternal mental health, and to assess whether such effects are bidirectional. Mothers with more diverse relationships experienced reductions in depression and anxiety symptoms over time, and the psychological benefits of diversity remained after adjusting for network size. Results also suggest bidirectional links between network size, diversity, and maternal mental health. Research and clinical implications are discussed.
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Trastorno del Espectro Autista , Trastorno Autístico , Adulto , Femenino , Adolescente , Humanos , Madres/psicología , Salud Mental , Depresión/psicología , Red Social , Trastorno del Espectro Autista/psicologíaRESUMEN
Youth with autism face challenges accessing services as they transition to adulthood. Improving parents' ability to advocate for services on behalf of their youth may be an effective way to improve service access and ultimately transition outcomes in this group. In this study, we tested whether participating in an advocacy intervention improved parents' ability to advocate for services for their transition-aged youth with autism. One hundred and eighty-five parents of youth with autism ages 16-26, recruited across three states in the U.S., were randomized to one of two experimental conditions. The treatment condition received the ASSIST program, a 12-week (24-h) group-based intervention. The control condition received the same written materials as the treatment condition. Primary outcomes for this report-parent advocacy ability-were collected at baseline (prior to randomization) and post-test (immediately after the treatment group finished the 12-week program) by survey. After taking ASSIST, the treatment condition had greater gains than controls in knowledge of adult services (B = -1.62, CI = -2.33 to -0.90) and perceived advocacy skills (B = -0.19, CI = -0.33 to -0.04). Participants who had less knowledge, lower perceived advocacy skills, and less active coping styles at baseline had the greatest treatment gains. Findings suggest that ASSIST is effective in improving parent advocacy ability and may be most beneficial for parents who experience greater challenges advocating for their son/daughter with autism. Future research will examine whether gains in parent advocacy ability leads to improvements in service access and post-school outcomes for transition-age youth with autism.
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Trastorno del Espectro Autista , Trastorno Autístico , Adolescente , Adulto , Humanos , Trastorno del Espectro Autista/terapia , Trastorno Autístico/terapia , Padres , Adulto JovenRESUMEN
Sleep plays an integral role in supporting well-being, and sleep difficulties are common in mothers of individuals with developmental disabilities, including fragile X syndrome (FXS). This study assessed whether the effects of sleep quality on physical health and depression are exacerbated by genetic risk factors (CGG repeats) in FMR1 premutation carrier mothers of individuals with FXS. Poor sleep quality predicted a greater number of physical health conditions for mothers with CGG repeats in the mid-premutation range (90-110 repeats), but not for those in the lower (< 90 repeats) or higher (> 110 repeats) ends of the range. A significant association between poor sleep quality and maternal depressive symptoms was also observed, but there was no evidence that this effect varied by level of genetic vulnerability. This research extends our understanding of individual differences in the effects of sleep quality among mothers of individuals with FXS.
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Síndrome del Cromosoma X Frágil , Femenino , Humanos , Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/diagnóstico , Calidad del Sueño , Madres , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , SueñoRESUMEN
Variation in the FMR1 gene may affect aspects of cognition, such as executive function and memory. Environmental factors, such as stress, may also negatively impact cognitive functioning. Participants included 1,053 mothers of children with and without developmental disabilities. Participants completed self-report measures of executive function, memory, and stress (i.e., life events, parenting status), and provided DNA to determine CGG repeat length (ranging from 7 to 192 CGGs). Stress exposure significantly predicted greater self-reported difficulties in executive function and the likelihood of memory problems. Cubic CGG effects independently predicted executive function and memory difficulties, suggesting effects of both genetic variation and environmental stress exposure on cognitive functioning.
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Cognición , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil , Madres , Estrés Psicológico , Expansión de Repetición de Trinucleótido , Niño , Femenino , Humanos , Función Ejecutiva , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Madres/psicología , Autoinforme , Estrés Psicológico/genéticaRESUMEN
Higher education has been shown to have neuroprotective effects, reducing the risk of Alzheimer's and Parkinson's diseases, slowing the rate of age-related cognitive decline, and is associated with lower rates of early mortality. In the present study, the association between higher education, fragile X messenger ribonucleoprotein 1 (FMR1) cytosine-guanine-guanine (CGG) repeat number, and mortality before life expectancy was investigated in a population cohort of women born in 1939. The findings revealed a significant interaction between years of higher education and CGG repeat number. Counter to the study's hypothesis, the effects of higher education became more pronounced as the number of CGG repeats increased. There was no effect of years of higher education on early mortality for women who had 25 repeats, while each year of higher education decreased the hazard of early mortality by 8% for women who had 30 repeats. For women with 41 repeats, the hazard was decreased by 14% for each additional year of higher education. The interaction remained significant after controlling for IQ and family socioeconomic status (SES) measured during high school, as well as factors measured during adulthood (family, psychosocial, health, and financial factors). The results are interpreted in the context of differential sensitivity to the environment, a conceptualization that posits that some people are more reactive to both negative and positive environmental conditions. Expansions in CGG repeats have been shown in previous FMR1 research to manifest such a differential sensitivity pattern.
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Disfunción Cognitiva , Fármacos Neuroprotectores , Enfermedad de Parkinson , Humanos , Femenino , Anciano de 80 o más Años , Adulto , Citosina , Guanina , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genéticaRESUMEN
Background: Employment is a major contributor to quality of life. However, autistic people are often unemployed and underemployed. One potential barrier to employment is the job interview. However, the availability of psychometrically-evaluated assessments of job interviewing skills is limited for autism services providers and researchers. Objective: We analyzed the psychometric properties of the Mock Interview Rating Scale that was adapted for research with autistic transition-age youth (A-MIRS; a comprehensive assessment of video-recorded job interview role-play scenarios using anchor-based ratings for 14 scripted job scenarios). Methods: Eighty-five transition-age youth with autism completed one of two randomized controlled trials to test the effectiveness of two interventions focused on job interview skills. All participants completed a single job interview role-play at pre-test that was scored by raters using the A-MIRS. We analyzed the structure of the A-MIRS using classical test theory, which involved conducting both exploratory and confirmatory factor analyzes, Rasch model analysis and calibration techniques. We then assessed internal consistency, inter-rater reliability, and test-retest reliability. Pearson correlations were used to assess the A-MIRS' construct, convergent, divergent, criterion, and predictive validities by comparing it to demographic, clinical, cognitive, work history measures, and employment outcomes. Results: Results revealed an 11-item unidimensional construct with strong internal consistency, inter-rater reliability, and test-retest reliability. Construct [pragmatic social skills (r = 0.61, p < 0.001), self-reported interview skills (r = 0.34, p = 0.001)], divergent [e.g., age (r = -0.13, p = 0.26), race (r = 0.02, p = 0.87)], and predictive validities [competitive employment (r = 0.31, p = 0.03)] received initial support via study correlations, while convergent [e.g., intrinsic motivation (r = 0.32, p = 0.007), job interview anxiety (r = -0.19, p = 0.08)] and criterion [e.g., prior employment (r = 0.22, p = 0.046), current employment (r = 0.21, p = 0.054)] validities were limited. Conclusion: The psychometric properties of the 11-item A-MIRS ranged from strong-to-acceptable, indicating it may have utility as a reliable and valid method for assessing the job interview skills of autistic transition-age youth.
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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 son/daughter with FXS included a measure of the quality of the relationship, as well as descriptions provided by mothers of their relationship with their son/daughter (positive remarks, critical remarks). Maladaptive behaviors decreased, maternal positive remarks increased, and maternal critical remarks and relationship quality remained stable over time. Bidirectional effects of change were observed in predicting maladaptive behaviors and maternal positive remarks, although maladaptive behaviors more strongly predicted positive remarks than the reciprocal association. This research suggests prioritizing maladaptive behaviors in the context of family interventions.
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Síndrome del Cromosoma X Frágil , Adolescente , Adulto , Relaciones Familiares , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/genética , Humanos , MadresRESUMEN
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 via parent-reported maternal burden and mother-child closeness, and coded speech samples ascertaining maternal critical and positive remarks regarding the child. Groups did not differ in relationship quality. The verbal group was more likely to display disruptive and socially inappropriate behaviors, but otherwise the groups did not differ in behavior problems. Verbal status moderated the relationship between behavior problems and negative (maternal burden, critical remarks) but not positive (mother-child closeness, positive remarks) aspects of relationship quality.
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Trastorno del Espectro Autista , Problema de Conducta , Adolescente , Adulto , Femenino , Humanos , Relaciones Madre-Hijo , Madres , PadresRESUMEN
Using longitudinal data, the present study examined the association between college degree attainment and the manifestation of neurodegenerative symptoms among women (n = 93) at elevated genetic risk. The neurodegenerative symptoms investigated in this study are due to FXTAS (Fragile X-associated Tremor/Ataxia Syndrome), a condition with onset after age 50. Those at risk for FXTAS have a mutation of a single gene found on the X chromosome. FXTAS is characterized by intention tremor, gait ataxia, executive function deficits, memory issues, and neuropathy. College degree attainment has been shown to provide neuroprotective effects in the general population, delaying the development of neurodegenerative conditions such as Alzheimer's disease. For this reason, college degree attainment is a potentially salient resource for those at risk of FXTAS. The results of the present research indicated significantly more severe FXTAS symptoms in women who did not attain a college degree as compared with those who were college graduates, although the two groups were similar in age, genetic risk, household income, health behaviors, and general health problems. Furthermore, symptoms in those who did not attain a college degree worsened over the 9-year study period at a significantly faster rate than the college graduates. The association between college degree attainment and FXTAS symptoms was significantly mediated by depression, which was lower among the graduates than those who did not attain a college degree. Thus, the present research is an example of how a sociodemographic factor can mitigate neurodegenerative conditions in genetically at-risk adults.
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LAY ABSTRACT: It can be difficult for youth on the autism spectrum to get the services they need after they leave high school. Because of this, many studies have examined the different factors that are related to service access. These studies have shown that youth on the autism spectrum who belong to an underrepresented racial or ethnic group or whose families have lower incomes are less likely to receive the services that they need. However, it is difficult or impossible to change things like race/ethnicity or family income. It is important to also identify factors that might improve service access that we can change. One potential factor that fits into this category is parental advocacy activities. Using data collected from 185 parents of youth on the autism spectrum, we found that more parental advocacy activities were related to youth receiving more services, even after accounting for variables related to the functioning of the youth (e.g. whether they have an intellectual disability, their autism symptom severity) and demographic information about the family (e.g. state in which they live, parental race/ethnicity, and family income). Our findings suggest that building parental advocacy skills may be one important way to increase the number of services that youth on the autism spectrum receive as they transition to adulthood.
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Trastorno del Espectro Autista , Trastorno Autístico , Trastornos Generalizados del Desarrollo Infantil , Discapacidad Intelectual , Adolescente , Adulto , Anciano , Trastorno del Espectro Autista/terapia , Niño , Humanos , PadresRESUMEN
Many youth with autism spectrum disorder (ASD) face challenges accessing needed services as they transition to adulthood. The present study describes the development, feasibility and acceptability of a new intervention designed to teach parents of transition-aged youth with ASD about the adult service system and the most effective ways to access services and supports. As part of a randomized-controlled trial, the intervention-named ASSIST-was delivered to 91 participants in three states in the U.S. Results suggested that ASSIST is feasible and acceptable to participants. Though intended to be an in-person group-based program, due to COVID-19 restrictions ASSIST was primarily delivered online. Results and discussion explore the trade-offs and implications of these different treatment delivery modalities in relation to ASSIST.
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Trastorno del Espectro Autista , COVID-19 , Adolescente , Adulto , Anciano , Trastorno del Espectro Autista/terapia , Estudios de Factibilidad , Humanos , Padres/educaciónRESUMEN
In this study, we examined trajectories of specific domains of behavior problems (i.e., attention problems, depression/anxiety, and aggressive behavior) from age 6 to 18 in a sample of 55 children with fragile X syndrome. We also examined autism status and early parenting as predictors of subsequent behavioral trajectories. We found that attention problems and aggressive behavior declined steadily from childhood through adolescence whereas anxious/depressed behavior demonstrated relative stability over the same period. Youth with highly flexible mothers displayed more optional trajectories of improvement in attention problems.
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Trastorno del Espectro Autista , Síndrome del Cromosoma X Frágil , Adolescente , Ansiedad , Niño , Femenino , Humanos , Madres , Responsabilidad ParentalRESUMEN
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 verbal fluency for 404 individuals with autism from childhood to adolescence and adulthood. Socioeconomic factors were examined across fluency groups (i.e., those who did/did not achieve verbal fluency). Findings indicated that fully 60% of those who were minimally verbal in early childhood acquired verbal fluency in adolescence and adulthood. Parent socioeconomic status differed across fluency groups, suggesting the importance of environmental factors for individual development.
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Trastorno del Espectro Autista/psicología , Desarrollo del Lenguaje , Factores Socioeconómicos , Aprendizaje Verbal , Adolescente , Adulto , Trastorno del Espectro Autista/economía , Niño , Femenino , Humanos , Masculino , Padres , Adulto JovenRESUMEN
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 the number of CGG (cytosine-guanine-guanine) repeats in the FMR1 gene (67-138 repeats in the present sample). The environmental factor was cumulative exposure to adverse life events during the study period. Cortisol was measured at the beginning of the study via saliva samples and at the end of the study via hair samples; hormone values from these two specimen types were significantly correlated. The interactions between CGG repeat number and adverse life events significantly predicted hair cortisol concentration, including after accounting for the initial salivary cortisol level. For those with fewer CGG repeats, stress exposure was associated with elevated cortisol, the expected response to stress, although women with a higher number of CGGs had a reduced cortisol response to adverse events, which might be related to HPA dysfunction. These results indicate that both exogenous and endogenous factors affect HPA functioning in this population of women.