A Lifespan Approach to Patient-Reported Outcomes and Quality of Life for People on the Autism Spectrum

Autistic self-advocates, family members, and community organizations have called for greater emphasis on enhancing quality of life (QoL) for people with autism. Doing this is critical to understand how QoL unfolds across the life course and to clarify whether gender affects QoL, health, and functioning for people with autism. The purpose of this study was to curate and test a lifespan QoL measurement tool using freely available and well-constructed National Institutes of Health Parent-Reported Outcomes Measurement Information System (PROMIS). To develop the PROMIS Autism Battery-Lifespan (PAB-L), we identified PROMIS scales relevant for autism, reviewed each item, consulted with a panel of autism experts, and elicited feedback from autistic people and family members. This battery provides a comprehensive portrait of QoL for children ages 5-13 (through parent proxy), teens 14-17 (parent proxy and self-report), and adults 18-65 (self-report) with autism compared to the general population. Participants and parent informants (N = 912) recruited through a children’s hospital and nationwide U.S. autism research registry completed the PAB-L online. Results indicate that compared to general population norms, people with autism of all ages (or their proxies) reported less desirable outcomes and lower QoL across all domains. Women and girls experienced greater challenges in some areas compared to men and boys with autism. The PAB-L appears to be a feasible and acceptable method for assessing patient-reported outcomes and QoL for autistic people across the life course. Autism Res 2020, 13: 970-987. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We developed a survey to measure the quality of life of children, teens, and adults with autism using free National Institutes of Health PROMIS questionnaires. People with autism and family members rated the PROMIS Autism Battery-Lifespan as useful and important. Some reported a good quality of life, while many reported that their lives were not going as well as they wanted. Women and girls reported more challenges in some areas of life than men and boys.

Keywords: adults; life course; life span/lifespan; patient-reported outcomes; quality of life; sex/gender; women with autism.

Introduction: Individuals with autism spectrum disorder (ASD) often exhibit differences in pain responsivity. This altered responsivity could be related to ASD-related social communication difficulties, sensory differences, or altered processing of pain stimuli. Previous neuroimaging work suggests altered pain evaluation could contribute to pain-related anxiety in ASD.

Objectives: We hypothesized that individuals with ASD would report increased pain sensitivity and endorse more pain-related anxiety, compared to typically developing controls.

Methods: We recruited 43 adults (ASD, n = 24; typically developing, n = 19) for 3 heat pain tasks (applied to the calf). We measured heat pain thresholds using a method of limits approach, a pain-rating curve (7 temperatures between 40 and 48°C, 5 seconds, 5 trials each), and a sustained heat pain task with alternating low (42°C) and high (46°C) temperatures (21 seconds, 6 trials each). Individual differences in pain-related anxiety, fear of pain, situational pain catastrophizing, depressive symptoms, and autism-related social communication were assessed by self-report.

Results: There were no group differences in pain thresholds. For suprathreshold tasks, mean pain ratings were higher in ASD across both the pain-rating curve and the sustained heat pain tasks, but responses in the ASD group were more varied. Pain anxiety (PASS-Total) and pain-related fear (FOP-III-Total) were higher in the ASD group and were positively associated with pain ratings.

Conclusions: Our results suggest that both sensory and cognitive experiences of pain are heightened and interact reciprocally in adults with ASD. Future studies are needed to evaluate the impact of pain-related anxiety on treatment-seeking and pain behaviors, given higher levels of pain-related anxiety in ASD.

Keywords: Anxiety; Autism; Pain; Psychophysics.

Employment rates for autistic individuals are poor, even compared to those from other disability groups. Internationally, there remains limited understanding of the factors influencing employment across the stages of preparing for, gaining, and maintaining employment. This is the third in a series of studies conducted as part of an International Society for Autism Research (INSAR) policy brief intended to improve employment outcomes for autistic individuals. A multi-informant international survey with five key stakeholder groups, including autistic individuals, their families, employers, service providers, and researchers, was undertaken in Australia, Sweden, and the United States to understand the facilitators and barriers to employment for autistic adults. A total of 687 individuals participated, including autistic individuals (n = 246), family members (n = 233), employers (n = 35), clinicians/service providers (n = 123), and researchers (n = 50). Perceptions of the facilitators and barriers to employment differed significantly across both key stakeholder groups and countries, however, ensuring a good job match and focusing on strengths were identified by all groups as important for success. Key barriers to employment included stigma, a lack of understanding of autism spectrum disorder (ASD) and communication difficulties. Results suggest that a holistic approach to employment for autistic individuals is required, aimed at facilitating communication between key stakeholders, addressing attitudes and understanding of ASD in the workplace, using strength-based approaches and providing early work experience. Autism Res 2020, 13: 1195-1214. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autistic individuals experience significant difficulty getting and keeping a job. This article presents a survey study involving autistic individuals, their families, employers, service providers and researchers in Australia, Sweden, and the United States to understand their perspectives on the factors that support or act as barriers to employment. While perspectives varied across key stakeholders, strategies such as using a holistic approach, targeting workplace attitudes and understanding, focusing on strengths, and providing early work experience are important for success.

Keywords: adults; autism; cross-cultural; employment; key stakeholders.

A geographic information system (GIS) approach systematically assessed whether population density and distribution of community resources contributed to caregiver reported community participation outcomes for 124 adults with autism spectrum disorder (ASD). Regression analyses examined whether GIS measures predicted community participation in areas of social activities and use of services, while also accounting for adult age, conversation ability, and daily living skills (DLS). Results indicated that in addition to person factors of greater DLS and better conversation ability, access to specific community features, such as bus stops, contributed to improved participation. Unexpectedly, population density where one lived made minimal contribution to participation outcomes, except in getting together with friends outside of organized activities.

Keywords: Adults; Autism spectrum disorder; Community participation; Geographic information systems (GIS); Services

Background: COVID-19 restrictions have significantly limited access to in-person educational and healthcare services for all, including individuals with intellectual and developmental disabilities (IDDs). The objectives of this online survey that included both national and international families were to capture changes in access to healthcare and educational services for individuals with IDDs that occurred shortly after restrictions were initiated and to survey families on resources that could improve services for these individuals.

Methods: This was an online survey for caregivers of individuals with (1) a genetic diagnosis and (2) a neurodevelopmental diagnosis, including developmental delay, intellectual disability, autism spectrum disorder or epilepsy. The survey assessed (1) demographics, (2) changes in access to educational and healthcare services and (3) available and preferred resources to help families navigate the changes in service allocation.

Results: Of the 818 responses (669 within the USA and 149 outside of the USA), most families reported a loss of at least some educational or healthcare services. Seventy-four per cent of parents reported that their child lost access to at least one therapy or education service, and 36% of respondents lost access to a healthcare provider. Only 56% reported that their child received at least some continued services through tele-education. Those that needed to access healthcare providers did so primarily through telemedicine. Telehealth (both tele-education and telemedicine) was reported to be helpful when available, and caregivers most often endorsed a need for an augmentation of these remote delivery services, such as 1:1 videoconference sessions, as well as increased access to 1:1 aides in the home.

Conclusions: COVID-19 restrictions have greatly affected access to services for individuals with syndromic IDDs. Telehealth may provide opportunities for delivery of care and education in a sustainable way, not only as restrictions endure but also after they have been lifted.

Keywords: Autism; COVID-19; Genetics; Intellectual disability; Parents.

Significant heterogeneity across aetiologies, neurobiology and clinical phenotypes have been observed in individuals with autism spectrum disorder (ASD). Neuroimaging-based neuroanatomical studies of ASD have often reported inconsistent findings which may, in part, be attributable to an insufficient understanding of the relationship between factors influencing clinical heterogeneity and their relationship to brain anatomy. To this end, we performed a large-scale examination of cortical morphometry in ASD, with a specific focus on the impact of three potential sources of heterogeneity: sex, age and full-scale intelligence (FIQ). To examine these potentially subtle relationships, we amassed a large multi-site dataset that was carefully quality controlled (yielding a final sample of 1327 from the initial dataset of 3145 magnetic resonance images; 491 individuals with ASD). Using a meta-analytic technique to account for inter-site differences, we identified greater cortical thickness in individuals with ASD relative to controls, in regions previously implicated in ASD, including the superior temporal gyrus and inferior frontal sulcus. Greater cortical thickness was observed in sex specific regions; further, cortical thickness differences were observed to be greater in younger individuals and in those with lower FIQ, and to be related to overall clinical severity. This work serves as an important step towards parsing factors that influence neuroanatomical heterogeneity in ASD and is a potential step towards establishing individual-specific biomarkers

Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to the variation in expression, and some neuropsychiatric disorder loci may exert their effects through this mechanism. To investigate these relationships, we present BrainVar, a unique resource of paired whole-genome and bulk tissue RNA sequencing from the dorsolateral prefrontal cortex of 176 individuals across prenatal and postnatal development. Here we identify common variants that alter gene expression (expression quantitative trait loci [eQTLs]) constantly across development or predominantly during prenatal or postnatal stages. Both “constant” and “temporal-predominant” eQTLs are enriched for loci associated with neuropsychiatric traits and disorders and colocalize with specific variants. Expression levels of more than 12,000 genes rise or fall in a concerted late-fetal transition, with the transitional genes enriched for cell-type-specific genes and neuropsychiatric risk loci, underscoring the importance of cataloging developmental trajectories in understanding cortical physiology and pathology.

Keywords: BrainVar; DLPFC; LOC101926933 RP11-298I3.1 AL132780.1 ENSG00000257285; PsychENCODE; RHEBL1; dorsolateral prefrontal cortex; fetal transition; mTOR; prenatal eQTL