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BACKGROUND: Autistic transition-age youth are employed at rates far lower than their non-disabled peers as well as youth with other disabilities. Meanwhile, very few studies have evaluated the implementation of job interviewing practices within pre-employment transition services. OBJECTIVE: We conducted an initial implementation evaluation as part of a Type I hybrid randomized controlled effectiveness-implementation trial where we trained teachers to deliver Virtual Interview Training for Transition-Age Youth (VIT-TAY) within five pre-employment transition services programs. METHODS: We used mixed methods to evaluate leader (n=5), teacher (n=15) and autistic transition age youth (n=48) perceptions of VIT-TAY. We used descriptive statistics and thematic network analysis to evaluate survey data. Mixed methods integration was then performed to make comparisons between quantitative and qualitative results. RESULTS: Quantitative survey data revealed that leaders and teachers found VIT-TAY to be highly acceptable and appropriate for pre-employment transition services; findings which were confirmed via thematic network analysis of qualitative interview data. Autistic students reported via quantitative surveys that VIT-TAY was acceptable and usable, which was confirmed via thematic network analysis of open-ended survey data. CONCLUSIONS: This initial implementation evaluation can be used to inform a larger scale implementation evaluation of VIT-TAY in schools.
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BACKGROUND: The study of job interview training is an emerging area among transition-age autistic youth who face significant challenges when navigating job interviews. The autism field has limited measures that have undergone rigorous psychometric evaluation. OBJECTIVE: We sought to evaluate the psychometric properties of adapted self-report measures assessing job interview skills and job interview anxiety. METHODS: As part of two parent randomized controlled trials, eighty-five transition-age autistic youth completed measures related to the strength of their job interview skills and their level of job interview anxiety. We conducted classical test theory analyses, exploratory and confirmatory factor analyses, and Rasch model analytic and calibration analyses. Pearson correlations were used to establish concurrent, divergent, and criterion validity by correlating these scales with measures of social differences, depressive symptoms, behaviors, neuropsychological functioning, and work history. RESULTS: Our analyses yielded two brief and reliable scales: Measure of Job Interview Skills (MOJO-iSkills) and Measure of Job Interview Anxiety (MOJO-iAnxiety), which demonstrated initial concurrent, divergent, and criterion validities when correlated with measures of depressive symptoms, social differences, internalizing and externalizing behavior, and work history. CONCLUSIONS: This study presents initial evidence that MOJO-iSkills and MOJO-iAnxiety have acceptable psychometric properties supporting they can be used to reliably and validly assess job interview skills and interview anxiety.
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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 inhibition over time. The present study examined verbal inhibition performance (i.e., inhibition errors) on the Hayling Sentence Completion Task in a cohort of 92 women with the FMR1 premutation across two timepoints approximately three years apart. We examined the effects of age, CGG repeat length, and their interactions on verbal inhibition over time. We also evaluated whether response latency affected verbal inhibition errors. We found no significant change in verbal inhibition in the full cohort during the three-year study period. However, a subset of FMR1 premutation carriers, namely older participants with higher CGG repeats, evidenced greater declines in verbal inhibition over time. Longer response latencies did not compensate for verbal inhibition errors. The findings suggest that a subset of women with the FMR1 premutation may be at earlier, increased risk for changes in executive functioning, which if confirmed, should be considered as part of the clinical profile associated with the premutation.
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Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil , Síndrome del Cromosoma X Frágil , Anciano , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/genética , Heterocigoto , Humanos , Masculino , Estudios Prospectivos , Expansión de Repetición de TrinucleótidoRESUMEN
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
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, understanding their impact on health outcomes has a potentially large public health footprint. OBJECTIVE: The study's objective was to compare an unselected group of premutation carriers (n = 35, 55-101 CGG repeats) with matched controls (n = 61, 29-39 CGG repeats) with respect to FXTAS-type signs using structured neurological assessments. METHODS: Three neurologists independently rated signs, using an adapted version of the FXTAS Rating Scale (Leehey MA, Berry-Kravis E, Goetz CG, et al. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008). This was a double-blind study, as genetic status (premutation vs. control) was known neither by the participants nor by any of the neurologists. Analyses controlled potentially confounding comorbid conditions in the electronic health record (eg, osteoarthritis and stroke) and probed the association of age with signs. RESULTS: Although there was no overall difference between carriers and controls, among individuals without any potentially confounding comorbid diagnoses, there was a statistically significant age-associated elevation in FXTAS-type signs in premutation carriers compared to controls. CONCLUSIONS: Among those who do not have other comorbid diagnoses, women who have CGG repeats at the lower end of the premutation range may be at greater risk for ataxia and parkinsonism than their age peers, although their overall risk of developing such clinical features is low. This study should provide reassurance to those who share characteristics with the present cohort. © 2021 International Parkinson and Movement Disorder Society.
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Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil , Síndrome del Cromosoma X Frágil , Heterocigoto , Ataxia/genética , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/genética , Humanos , Temblor/genética , Expansión de Repetición de TrinucleótidoRESUMEN
During the transition to adulthood, effective and culturally relevant supports are critical for families of youth with autism spectrum disorder (ASD). There is a dearth of documented program development and research on supports for Spanish-speaking Latino families during this life stage. The present work describes the cultural adaptation process of an evidence-based transition program for Latino families of youth with ASD. A model of the actions necessary to meaningfully conduct a cultural adaptation in this context is described. After implementing the culturally adapted program titled Juntos en la Transición with five Spanish-speaking families, parents reported high social validity of the program through surveys and interviews. The cultural adaptation process followed in this work is important for the further development of programs that address the transition needs of Latino youth with ASD and their families. Our impressions may also be useful to those who aim to develop culturally sensitive and ecologically valid multifamily group intervention programs for families from cultural and linguistic minority groups.
Durante la transición a la adultez, las adaptaciones eficaces y culturalmente relevantes son fundamentales para las familias de jóvenes con trastorno del espectro autista (TEA). Hay una escasez de investigaciones y desarrollo de programas documentados sobre las adaptaciones para las familias latinas de habla hispana durante esta etapa de la vida. El presente trabajo describe el proceso de adaptación cultural de un programa de transición de base fáctica para familias latinas de jóvenes con TEA. Se describe un modelo de las medidas necesarias para llevar a cabo significativamente una adaptación cultural en este contexto. Después de implementar el programa adaptado culturalmente y titulado Juntos en la Transición con cinco familias de habla hispana, los padres informaron una alta validez social del programa mediante encuestas y entrevistas. El proceso de adaptación cultural seguido en este trabajo es importante para el futuro desarrollo de programas que aborden las necesidades de transición de los jóvenes latinos con TEA y sus familias. Nuestras impresiones también pueden ser útiles para aquellos que desean desarrollar programas de intervención en grupos multifamiliares ecológicamente válidos y culturalmente adaptados para familias de grupos culturales y lingüísticos minoritarios.
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Trastorno del Espectro Autista/terapia , Asistencia Sanitaria Culturalmente Competente/métodos , Terapia Familiar/métodos , Implementación de Plan de Salud/métodos , Transición a la Atención de Adultos , Adolescente , Trastorno del Espectro Autista/etnología , Asistencia Sanitaria Culturalmente Competente/etnología , Femenino , Hispánicos o Latinos/psicología , Humanos , Masculino , Proyectos Piloto , Evaluación de Procesos, Atención de Salud , Evaluación de Programas y Proyectos de Salud , Adulto JovenRESUMEN
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
BACKGROUND: Adults with intellectual and developmental disabilities (IDD) experienced significant disruptions in their access to health care, support services, and essential daily activities such as work, leisure, and routine daily care during COVID-19. OBJECTIVE: The purpose of this study was to describe overall experiences related to COVID-19 among adults with IDD, including the vaccination process, quality of life (QoL), and service satisfaction before and during the pandemic. METHODS: A longitudinal statewide survey of adults with IDD receiving long-term care support using a combination of self- and care partner report was completed prior to (2017; n = 331) and during (2021; n = 206) the pandemic. RESULTS: Qualitative results identified specific vaccine barriers, vaccine decision influencers, and general experiences during COVID-19 for adults with IDD. The importance of support staff, vaccine availability, disruption in daily activities, social context, and mental health implications were noted in responses to all three topics. Quantitative results showed lower QoL during COVID-19 (M = 2.99 vs. 3.14, p = .028); however, when reporter (self vs. care partner) and age were added to the model, differences between pre-vs. during-COVID were no longer significant. No significant differences in satisfaction of services were noted pre-vs. during-COVID-19. Ninety-six percent of respondents reported access to the vaccine, and 16 % experienced barriers getting the vaccine. QoL was associated with receiving the COVID-19 vaccine (r = 0.15, p = .036), level of agreement that the vaccine is safe (r = 0.17, p = .024), and level of agreement that getting the vaccine will help protect other vulnerable people in the community (r = .25, p = .001). Level of satisfaction with quality of services was also associated with level of agreement that the vaccine is safe (r = 0.15, p = .048). CONCLUSIONS: Overall, a better understanding of service continuation, support practices, and experiences related to COVID-19 will prepare us for future environmental and health crises by identifying areas for improvement, intervention, and policy change to meet the ongoing needs of adults with IDD.
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COVID-19 , Personas con Discapacidad , Discapacidad Intelectual , Adulto , Niño , Humanos , Calidad de Vida , Vacunas contra la COVID-19 , Discapacidades del Desarrollo/psicología , Personas con Discapacidad/psicología , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/psicologíaRESUMEN
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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LAY ABSTRACT: Parents of individuals with autism face many challenges in finding appropriate services and support for their children, and they also play an important role in advocating for their children's rights and needs. Despite the increasing availability of advocacy programs, it is still uncertain how to best encourage parents to advocate for their children. This study explored the connection between parents' knowledge and sense of empowerment, and how these factors relate to three types of advocacy activities (i.e. individual, peer, and systemic). The findings reveal that feeling empowered has a greater impact on advocacy than simply having knowledge. In addition, the study found that individual advocacy correlates to more peer advocacy, which also correlates to more systemic advocacy. These results can help researchers and professionals to better develop programs to increase parent advocacy and, in turn, help improve the lives of individuals with autism.
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Trastorno Autístico , Empoderamiento , Padres , Humanos , Femenino , Masculino , Padres/psicología , Adolescente , Adulto , Trastorno Autístico/psicología , Niño , Conocimientos, Actitudes y Práctica en Salud , Adulto Joven , Persona de Mediana Edad , Defensa del Niño , Defensa del PacienteRESUMEN
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 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
OBJECTIVE: Our objectives with this study were to describe the frequency of selected cooccurring health conditions and individualized education program (IEP) services and post-high school transition planning for adolescents with autism spectrum disorder and identify disparities by sex, intellectual ability, race or ethnicity, and geographic area. METHODS: The study sample included 1787 adolescents born in 2004 who were identified as having autism through a health and education record review through age 16 years in 2020. These adolescents were part of a longitudinal population-based surveillance birth cohort from the Autism and Developmental Disabilities Monitoring Network from 2004 to 2020 in 5 US catchment areas. RESULTS: Attention deficit hyperactivity disorder (47%) and anxiety (39%) were the most common cooccurring health conditions. Anxiety was less commonly identified for those with intellectual disability than those without. It was also less commonly identified among Black adolescents compared with White or Hispanic adolescents. There was wide variation across Autism and Developmental Disabilities Monitoring Network sites in the provision of school-based IEP services. Students with intellectual disability were less likely to receive school-based mental health services and more likely to have a goal for postsecondary independent living skills compared with those without intellectual disability. A total of 37% of students did not participate in standardized testing. CONCLUSIONS: We identified disparities in the identification of cooccurring conditions and school-based IEP services, practices, and transition planning. Working with pediatric health and education providers, families, and adolescents with autism will be important to identify contributing factors and to focus efforts to reduce disparities in the supports and services adolescents with autism have access to and receive.
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Trastorno del Espectro Autista , Trastorno Autístico , Discapacidad Intelectual , Adolescente , Adulto , Niño , Humanos , Adulto Joven , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/terapia , Trastorno Autístico/epidemiología , Trastorno Autístico/terapia , Etnicidad , Hispánicos o Latinos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/terapia , Negro o Afroamericano , BlancoRESUMEN
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
Developmental disabilities (DD) research has depended on volunteer and clinical samples, with limited racial/ethnic diversity. This study focused on improving diversity and retention in DD research. The sample included 225 parents with a child with DD and 4,002 parents without children with DD from diverse racial/ethnic groups, drawn from Midlife in the United States, a national longitudinal study. Unexpectedly, parents of children with DD from diverse racial/ethnic groups were more likely to participate longitudinally than other groups. Relative participant payment was a factor that enhanced their likelihood of retention. This research illustrates how large national studies can be leveraged to increase representativeness and ongoing participation of diverse racial/ethnic groups, especially in combination with other factors, such as parenting a child with DD.
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Discapacidades del Desarrollo , Padres , Niño , Humanos , Estados Unidos , Estudios Longitudinales , Responsabilidad Parental , Grupo SocialRESUMEN
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.