Autism-related dietary preferences mediate autism-gut microbiome associations.

There is increasing interest in the potential contribution of the gut microbiome to autism spectrum disorder (ASD). However, previous studies have been underpowered and have not been designed to address potential confounding factors in a comprehensive way. We performed a large autism stool metagenomics study (n = 247) based on participants from the Australian Autism Biobank and the Queensland Twin Adolescent Brain project. We found negligible direct associations between ASD diagnosis and the gut microbiome. Instead, our data support a model whereby ASD-related restricted interests are associated with less-diverse diet, and in turn reduced microbial taxonomic diversity and looser stool consistency. In contrast to ASD diagnosis, our dataset was well powered to detect microbiome associations with traits such as age, dietary intake, and stool consistency. Overall, microbiome differences in ASD may reflect dietary preferences that relate to diagnostic features, and we caution against claims that the microbiome has a driving role in ASD.

How can psychologists meet the needs of autistic adults?

LAY ABSTRACT: In a recent editorial, Mandy described an autism mental health crisis because autistic people are more likely to experience mental health concerns, yet they are less likely to get help. When autistic people do seek support, services tend not to be well matched to their needs. Alongside the six ideas Mandy suggested for addressing the mental health crisis, we think it is essential for psychologists to start changing the way they work to improve the person-environment fit for autistic clients. The relationship between a psychologist and their client influences the gains a client makes from engaging in therapy. The way psychologists are trained to build an effective working relationship with clients is based on neurotypical communication styles. The double empathy problem tells us that autistic clients relate to others differently to non-autistic clients, and so we propose that psychologists, especially when not autistic themselves, need to build the therapeutic relationship in a different way. We feel this is important, as the relationship between a psychologist and client is understood to be an important factor in how much the client can benefit from therapy. In this letter, we draw upon Bulluss' call for cultural competency when working with autistic clients, and further insights from autistic psychologists, and propose that psychologists rethink some taken-for-granted aspects of practice to be better able to create a sense of interpersonal safety when working with autistic clients.

Leisure, community, workforce participation and quality of life in primary and secondary caregivers of autistic children.

Parents of Autistic children often modify their participation in leisure, social, and employment activities to meet the caregiving needs of their child. However, few studies have examined the impact this has on caregiver quality of life (QoL). The aim in the current study was to examine the role of participation in a range of activities on QoL amongst primary and secondary caregivers of school-aged Autistic children. Eighty-eight primary (93% mothers) and 63 secondary (91% fathers) caregivers of Autistic children (aged 7- to 12-years) participated in this cross-sectional study, with time pressure, participation, social support, parenting stress, and QoL measured via an online questionnaire. Compared to secondary caregivers, primary caregivers reported fewer employment hours, increased time pressure, less participation in desired activities, and higher perceived responsibility of domestic and child-rearing tasks. Similar levels of leisure frequency, parenting stress, and QoL were identified by both caregivers. Hierarchical regression revealed caregiver participation as important for QoL in both primary and secondary caregivers. However, when measures of caregiver well-being were added to the model, the unique contribution of participation to QoL was reduced, particularly for secondary caregivers. Overall, the findings demonstrate that despite differences in caregiver roles and responsibilities, participation in meaningful activities was important for QoL in all caregivers.

Child and caregiver predictors of primary caregiver participation in families of school-aged Autistic children.

Engaging in meaningful activities (e.g., leisure, spiritual, fitness) significantly affects caregivers' quality of life (QoL), yet the determinants of participation in caregivers of Autistic children remain largely unknown. The current study examined child and caregiver correlates of primary caregiver participation in meaningful activities. One hundred and six primary caregivers of Autistic children (7-12 years) were recruited from three unique cohorts of Autistic children in this cross-sectional study. Primary caregivers completed online questionnaires measuring occupational gaps (i.e., desired activities caregivers are not participating in), QoL, parenting stress, perceived family outcomes, and social support. In addition to undertaking direct assessments of children's cognition and language, primary caregivers also reported on their child's adaptive behavior, social-emotional skills, and participation. Caregivers reporting fewer occupational gaps (i.e., ≤2 desired activities) were more likely to have Autistic children with no co-occurring conditions, who were older, and with better adaptive behaviors, social-emotional skills, and more frequent home and school participation, compared to caregivers reporting many gaps (i.e., ≥3 desired activities). Caregivers with fewer occupational gaps also reported improved QoL, parenting stress, social support, perceived community inclusiveness, and family outcomes. Logistic regression analysis identified child age, child adaptive behavior, social-emotional skills, home participation, and the caregivers' perceived family outcomes and QoL as important predictors of their occupational gaps. The findings demonstrate that caregiver participation in desired activities was associated with increased functional ability and independence of the child, as well as their perceived capacity to meet their child's needs. Supporting parents' sense of efficacy in meeting their children's needs and building their skills and knowledge will serve to improve both caregiver and child outcomes.

Women seeking an autism diagnosis in Australia: A qualitative exploration of factors that help and hinder.

LAY ABSTRACT: An autism diagnosis can have a big impact on women and make it possible to access support. This study explored women's experiences of being diagnosed with autism as an adult in Australia, to try to understand what was helpful (facilitators) and unhelpful (barriers) for them during this process. We interviewed 10 autistic women who had been diagnosed in the last 5 years. Framework analysis was used to understand the data. We wanted to understand barriers and facilitators relating to the individual participants, the professionals they saw and the system they went through for their diagnostic assessment. Women reported that being able to recognise they were autistic, being motivated, preparing for the assessment, having social support and unmasking to be themselves were helpful during the diagnostic process. They reported that having a knowledgeable diagnostician who made accommodations for their needs assisted them during the assessment process. When providers dismissed the participants when they first raised the possibility they were autistic, it delayed them in seeking an assessment. At the system level, the women in this study found some aspects of the healthcare system difficult to navigate, particularly costs and long waitlists. Some found the assessment tools used were not well suited to them. The experiences of the women in this study highlight improvements that could be made to accessing an adulthood autism diagnosis in Australia. These include improving provider knowledge of the varied presentation of autism and the development of resources to help autistic women prepare for their diagnostic assessment.

"It Defines Who I Am" or "It's Something I Have": What Language Do [Autistic] Australian Adults [on the Autism Spectrum] Prefer?

There has been a recent shift from person-first to identity-first language to describe autism. In this study, Australian adults who reported having a diagnosis of autism (N = 198) rated and ranked autism-terms for preference and offensiveness, and explained their choice in free-text. 'Autistic', 'Person on the Autism Spectrum', and 'Autistic Person' were rated most preferred and least offensive overall. Ranked-means showed 'person on the autism spectrum' was the most preferred term overall. Six qualitative themes reflected (1) autism as core to, or (2) part of one's identity, (3) 'spectrum' reflecting diversity, (4) the rejection of stigmatising and (5) medicalised language, and (6) pragmatics. These findings highlight the importance of inclusive dialogue regarding individual language preference.

Understanding language preference: Autism knowledge, experience of stigma and autism identity.

LAY ABSTRACT: There is ongoing discussion around what language is acceptable when talking about someone with an autism diagnosis, especially regarding person-first (e.g. person with autism) or identity-first (e.g. autistic person) language. We asked 198 Australian adults with an autism diagnosis what terminology they prefer and what they find offensive. We also asked questions to understand their experience of stigma, their autism knowledge and how much they endorse an autism identity, to investigate if these factors were associated with their language preferences. Overall, there was no significant association between these three factors and person-first terminology. For identity-first terms, those who endorse a stronger autism identity tended to find identity-first terms more preferable and less offensive, whereas those who reported greater experiences and internalisation of stigma tended to find identity-first terms less preferable and more offensive. Previous research has tended to ask what language participants prefer. The findings of this work help provide some context as to why people prefer or find offensive specific terms, at least for identity-first language.

Interactions between the lipidome and genetic and environmental factors in autism.

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome (783 lipid species) in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank. We identified lipids associated with ASD diagnosis (n = 8), sleep disturbances (n = 20) and cognitive function (n = 8) and found that long-chain polyunsaturated fatty acids may causally contribute to sleep disturbances mediated by the FADS gene cluster. We explored the interplay of environmental factors with neurodevelopment and the lipidome, finding that sleep disturbances and unhealthy diet have a convergent lipidome profile (with potential mediation by the microbiome) that is also independently associated with poorer adaptive function. In contrast, ASD lipidome differences were accounted for by dietary differences and sleep disturbances. We identified a large chr19p13.2 copy number variant genetic deletion spanning the LDLR gene and two high-confidence ASD genes (ELAVL3 and SMARCA4) in one child with an ASD diagnosis and widespread low-density lipoprotein-related lipidome derangements. Lipidomics captures the complexity of neurodevelopment, as well as the biological effects of conditions that commonly affect quality of life among autistic people.

Implications of Applying "Clinically Significant Impairment" to Autism Assessment: Commentary on Six Problems Encountered in Clinical Practice.

The addition of 'clinically significant impairment' (American Psychiatric Association, Diagnostic and statistical manual of mental disorders, Author, 2013) to the diagnostic criteria for autism in DSM-5 attempts to establish a threshold for the condition. However, the increased prominence of the neurodiversity paradigm and social model of disability runs counter to the idea that characteristics of autism are fundamentally impairing. Consequently, diagnostic criteria for autism are becoming misaligned with the contemporary views of 'disorder' and 'disability'. In this commentary, we outline six clinical issues that arise from this misalignment during diagnostic assessment for autism, and the tension this creates in making diagnostic decisions. We conclude by considering ways the 'clinically significant impairment' criterion could be changed, and the implications this would have on clinical practice, and the concept of autism.

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism. METHODS: Genome-wide single-nucleotide polymorphism genotypes were available for 2,477 individuals (after quality control) from 546 families (436 complete), including 886 participants aged 2 to 17 years with diagnosed (n = 871) or suspected (n = 15) ASD, 218 siblings without ASD, 1,256 parents, and 117 unrelated children without an ASD diagnosis. The genetic data were used to confirm familial relationships and assign ancestry, which was majority European (n = 1,964 European individuals). We generated polygenic scores (PGS) for ASD, IQ, chronotype and height in the subset of Europeans, and in 3,490 unrelated ancestry-matched participants from the UK Biobank. We tested for group differences for each PGS, and performed prediction analyses for related phenotypes in the AAB. We called copy-number variants (CNVs) in all participants, and intersected these with high-confidence ASD- and intellectual disability (ID)-associated CNVs and genes from the public domain. RESULTS: The ASD (p = 6.1e-13), sibling (p = 4.9e-3) and unrelated (p = 3.0e-3) groups had significantly higher ASD PGS than UK Biobank controls, whereas this was not the case for height-a control trait. The IQ PGS was a significant predictor of measured IQ in undiagnosed children (r = 0.24, p = 2.1e-3) and parents (r = 0.17, p = 8.0e-7; 4.0% of variance), but not the ASD group. Chronotype PGS predicted sleep disturbances within the ASD group (r = 0.13, p = 1.9e-3; 1.3% of variance). In the CNV analysis, we identified 13 individuals with CNVs overlapping ASD/ID-associated CNVs, and 12 with CNVs overlapping ASD/ID/developmental delay-associated genes identified on the basis of de novo variants. LIMITATIONS: This dataset is modest in size, and the publicly-available genome-wide-association-study (GWAS) summary statistics used to calculate PGS for ASD and other traits are relatively underpowered. CONCLUSIONS: We report on common genetic variation and rare CNVs within the AAB. Prediction analyses using currently available GWAS summary statistics are largely consistent with expected relationships based on published studies. As the size of publicly-available GWAS summary statistics grows, the phenotypic depth of the AAB dataset will provide many opportunities for analyses of autism profiles and co-occurring conditions, including when integrated with other omics datasets generated from AAB biospecimens (blood, urine, stool, hair).

A Comparison of Children Born Preterm and Full-Term on the Autism Spectrum in a Prospective Community Sample.

Introduction: Previous research suggests children diagnosed with autism spectrum disorder (ASD or "autism") born extremely and very preterm face substantially delayed development than their peers born full-term. Further, children born preterm are proposed to show a unique behavioral phenotype, which may overlap with characteristics of autism, making it difficult to disentangle their clinical presentation. To clarify the presentation of autism in children born preterm, this study examined differences in key indicators of child development (expressive language, receptive language, fine motor, and visual reception) and characteristics of autism (social affect and repetitive, restricted behaviors). Materials and Methods: One fifty-eight children (136 full-term, twenty-two preterm) diagnosed with autism, aged 22-34 months, were identified prospectively using the Social Attention and Communication Surveillance tools during community-based, developmental surveillance checks in the second year of life. Those identified at "high likelihood" of an autism diagnosis were administered the Mullen Scales of Early Learning and the Autism Diagnostic Observation Schedule. Results: The children born preterm and full-term did not differ significantly in their fine motor, visual reception, expressive language, or receptive language skills. No significant differences in social affect and repetitive and restrictive behavior traits were found. Discussion: The findings of this study differs from previous research where children diagnosed with autism born very or extremely preterm were developmentally delayed and had greater autistic traits than their term-born peers. These null findings may relate to the large proportion of children born moderate to late preterm in this sample. This study was unique in its use of a community-based, prospectively identified sample of children diagnosed with autism at an early age. It may be that children in these groups differ from clinic- and hospital-based samples, that potential differences emerge later in development, or that within the autism spectrum, children born preterm and full-term develop similarly. It was concluded that within the current sample, at 2 years of age, children diagnosed with autism born preterm are similar to their peers born full-term. Thus, when clinicians identify characteristics of autism in children born preterm, it is important to refer the child for a diagnostic assessment for autism.

Fatigue, stress and coping in mothers of children with an autism spectrum disorder.

Raising a child with an autism spectrum disorder (ASD) can be exhausting, which has the potential to impact on parental health and wellbeing. The current study investigated the influence of maternal fatigue and coping on the relationship between children's problematic behaviours and maternal stress for 65 mothers of young children (aged 2-5 years) with ASDs. Results showed that maternal fatigue but not maladaptive coping mediated the relationship between problematic child behaviours and maternal stress. These findings suggest child behaviour difficulties may contribute to parental fatigue, which in turn may influence use of ineffective coping strategies and increased stress. The significance of fatigue on maternal wellbeing was highlighted as an important area for consideration in families of children with an ASD.

Fatigue, wellbeing and parental self-efficacy in mothers of children with an autism spectrum disorder.

Raising a child with an Autism Spectrum Disorder (ASD) presents significant challenges for parents that potentially have a impact on their health and wellbeing. The current study examined the extent to which parents experience fatigue and its relationship to other aspects of wellbeing and parenting. Fifty mothers of children with an ASD aged 2-5 years participated in the study. Compared with mothers of typically developing children, mothers of children with an ASD reported significantly higher fatigue, with overall scores in the moderate range. Factors associated with high levels of fatigue were poor maternal sleep quality, a high need for social support and poor quality of physical activity. Fatigue was also significantly related to other aspects of wellbeing, including stress, anxiety and depression, and lower parenting efficacy and satisfaction. The need for interventions to specifically target parental fatigue and its impact on families affected by ASDs both in the short and long term is clearly indicated.