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.

The Role of Comorbidity on Retention in HIV Care.

Retention is a central component of the Cascade, facilitating monitoring of comorbidity. Country-specific definitions differ and may suit stable and functioning clients, while not appropriately classifying complex clinical presentations characterized by comorbidity. A retrospective file review of 363 people living with HIV attending a Sydney HIV clinic was conducted. Retention was compared with Australian (attendance once/12-months) and World Health Organization (attendance 'appropriate to need') recommendations to identify those attending according to the Australian definition, but not clinician recommendations (AUnotWHO). Multivariable logistic regression analyses determined the impact of age/sex and clinician-assessed comorbidity on retention. Most (97%) participants were considered retained according to the Australian definition, but only 56.7% according to clinician recommendations. Those with psychosocial comorbidity alone were less likely to be in the AUnotWHO group (OR 0.51, 95%CI 0.27-0.96, p = 0.04). The interaction of physical and psychosocial comorbidity was predictive of poor retention (Wald test: χ2 = 6.39, OR 2.39 [95% CI 1.15-4.97], p = 0.01), suggesting a syndemic relationship.

Study protocol for the Australian autism biobank: an international resource to advance autism discovery research.

BACKGROUND: The phenotypic and genetic heterogeneity of autism spectrum disorder (ASD) presents considerable challenges in understanding etiological pathways, selecting effective therapies, providing genetic counselling, and predicting clinical outcomes. With advances in genetic and biological research alongside rapid-pace technological innovations, there is an increasing imperative to access large, representative, and diverse cohorts to advance knowledge of ASD. To date, there has not been any single collective effort towards a similar resource in Australia, which has its own unique ethnic and cultural diversity. The Australian Autism Biobank was initiated by the Cooperative Research Centre for Living with Autism (Autism CRC) to establish a large-scale repository of biological samples and detailed clinical information about children diagnosed with ASD to facilitate future discovery research. METHODS: The primary group of participants were children with a confirmed diagnosis of ASD, aged between 2 and 17 years, recruited through four sites in Australia. No exclusion criteria regarding language level, cognitive ability, or comorbid conditions were applied to ensure a representative cohort was recruited. Both biological parents and siblings were invited to participate, along with children without a diagnosis of ASD, and children who had been queried for an ASD diagnosis but did not meet diagnostic criteria. All children completed cognitive assessments, with probands and parents completing additional assessments measuring ASD symptomatology. Parents completed questionnaires about their child's medical history and early development. Physical measurements and biological samples (blood, stool, urine, and hair) were collected from children, and physical measurements and blood samples were collected from parents. Samples were sent to a central processing site and placed into long-term storage. DISCUSSION: The establishment of this biobank is a valuable international resource incorporating detailed clinical and biological information that will help accelerate the pace of ASD discovery research. Recruitment into this study has also supported the feasibility of large-scale biological sample collection in children diagnosed with ASD with comprehensive phenotyping across a wide range of ages, intellectual abilities, and levels of adaptive functioning. This biological and clinical resource will be open to data access requests from national and international researchers to support future discovery research that will benefit the autistic community.

The Impact of Tic Severity, Comorbidity and Peer Attachment on Quality of Life Outcomes and Functioning in Tourette's Syndrome: Parental Perspectives.

The aim of this controlled, community-based study based on data from parents of youth (aged 7-16 years) with Tourette's syndrome (TS; n = 86) and parents of age and gender matched peers (n = 108) was to test several hypotheses involving a range of variables salient to the TS population, including peer attachment, quality of life, severity of tics, comorbidity, and psychological, behavioural and social dysfunction. Multivariate between-group analyses confirmed that TS group youth experienced lower quality of life, increased emotional, behavioural and social difficulties, and elevated rates of insecure peer attachment relative to controls, as reported by their primary caregiver. Results also confirmed the main hypothesis that security of peer attachment would be associated with individual variability in outcomes for youth with TS. As predicted, multivariate within-TS group analyses determined strong relationships among adverse quality of life outcomes and insecure attachment to peers, increased tic severity, and the presence of comorbid disorder. Findings suggest that youth with TS are at increased risk for insecure peer attachment and that this might be an important variable impacting the quality of life outcomes for those diagnosed.

Exploring the quantitative nature of empathy, systemising and autistic traits using factor mixture modelling.

BACKGROUND: Autism research has previously focused on either identifying a latent dimension or searching for subgroups. Research assessing the concurrently categorical and dimensional nature of autism is needed. AIMS: To investigate the latent structure of autism and identify meaningful subgroups in a sample spanning the full spectrum of genetic vulnerability. METHOD: Factor mixture models were applied to data on empathy, systemising and autistic traits from individuals on the autism spectrum, parents and general population controls. RESULTS: A two-factor three-class model was identified, with two factors measuring empathy and systemising. Class one had high systemising and low empathy scores and primarily consisted of individuals with autism. Mainly comprising controls and parents, class three displayed high empathy scores and lower systemising scores, and class two showed balanced scores on both measures of systemising and empathy. CONCLUSIONS: Autism is best understood as a dimensional construct, but meaningful subgroups can be identified based on empathy, systemising and autistic traits.

DSM-IV and DSM-5 social anxiety disorder in the Australian community.

OBJECTIVE: Current and accurate estimates of prevalence, correlates, comorbid concerns and treatment-seeking behaviours associated with disorders are essential for informing policy, clinical practice and research. The most recent snapshot of social anxiety disorder in Australia was published more than a decade ago, with significant changes to the accessibility of mental health treatment services and diagnostic measures occurring during this period. This paper aims to (i) update the understanding of social anxiety disorder, its associations and patterns of treatment-seeking behaviours in the Australian population, and (ii) explore the impact of revised diagnostic criteria detailed in the Fifth Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) on prevalence estimates. METHODS: The National Survey of Mental Health and Wellbeing (NSMHWB) was conducted by the Australian Bureau of Statistics in 2007, collecting information from a nationally representative random sample of 8841 Australians aged 16-85 years. The presence of social anxiety disorder diagnostic criteria and related disorders were assessed over 12 months and lifetime periods using the World Mental Health Composite International Diagnostic Interview. RESULTS: Profiles of social anxiety disorder were consistent with previous estimates, with higher prevalence in females and younger age groups. Of the 8.4% of Australians meeting criteria for social anxiety disorder at some point in their lifetime (12-month prevalence 4.2%), a majority also experienced comorbid mental health concerns (70%). The revised performance-only specifier included in the DSM-5 was applicable to only 0.3% of lifetime cases. Just over 20% of people reporting social anxiety disorder as their primary concern sought treatment, most commonly through general practitioners. CONCLUSIONS: Social anxiety disorder continues to be prevalent in the Australian population and highly related to other disorders, yet few people experiencing social anxiety disorder seek treatment.

Perceived misdiagnosis of psychiatric conditions in autistic adults.

Background: Many autistic people, particularly women, do not receive an autism diagnosis until adulthood, delaying their access to timely support and clinical care. One possible explanation is that autistic traits may initially be misinterpreted as symptoms of other psychiatric conditions, leading some individuals to experience misdiagnosis of other psychiatric conditions prior to their autism diagnosis. However, little is currently known about the frequency and nature of psychiatric misdiagnoses in autistic adults. Methods: Using data collected in the first half of 2019 from an ongoing longitudinal register of autistic adults in the Netherlands, this study explored the frequency of perceived psychiatric misdiagnoses before receiving an autism diagnosis. Gender differences were also explored. A sample of 1211 autistic adults (52.6% women, mean age 42.3 years), the majority of whom were Dutch and relatively highly educated, was evaluated. Findings: Results showed that 24.6% (n = 298) of participants reported at least one previous psychiatric diagnosis that was perceived as a misdiagnosis. Personality disorders were the most frequent perceived misdiagnoses, followed by anxiety disorders, mood disorders, chronic fatigue syndrome/burnout-related disorders, and attention-deficit/hyperactivity disorder. Autistic women (31.7%) reported perceived misdiagnoses more frequently than men (16.7%). Women were specifically more likely than men to report perceived misdiagnoses of personality disorders, anxiety disorders, and mood disorders. Women also reported prior psychiatric diagnoses more often in general (65.8% versus 34.2% in men). Within the group of individuals with a prior diagnosis, perceived misdiagnoses were equally likely for men and women. Interpretation: One in four autistic adults, and one in three autistic women, reported at least one psychiatric diagnosis, obtained prior to being diagnosed with autism, that was perceived as a misdiagnosis. Inaccurate diagnoses are linked to long diagnostic pathways and delayed recognition of autism. These findings highlight the need for improved training of mental health practitioners, in order to improve their awareness of the presentation of autism in adulthood and of the complex relationship between autism and co-occurring conditions. The current study constitutes a first step towards showing that autistic adults, and particularly women, may be at greater risk of experiencing misdiagnoses. Future studies based on larger, more representative samples are required, to replicate current findings and provide more reliable estimates of the overall frequency of misdiagnoses as well as the frequency of misdiagnoses for specific psychiatric conditions. Funding: This study was made possible by funding from the Netherlands Organisation for Health Research and Development (ZonMW), project number 60-63600-98-834.

'Nothing About Us, Without Us': Research Priorities for Autistic Girls, Women and Gender Diverse People in Australia.

Autistic girls, women and gender diverse people have specific needs that are underrepresented in research. Research priorities are often established by funding bodies, researchers, parents, carers and health professionals and may not meet the needs of the diverse Autistic community. This co-produced project aimed to identify what research would benefit the lives of Autistic girls, women and gender diverse people in Australia. We interviewed 47 Autistic girls, women and gender diverse people aged seven and above and obtained feedback from an additional 411 Autistic people through an online survey. Autistic young people identified six key research priorities including (1) better understanding and support at school, (2) understanding our experiences, strengths and challenges, (3) autism specific mental health support, (4) Autistic friendships and relationships, (5) experiences of gender diversity and (6) accommodations to make life easier for us. Eight key research priority areas were identified by Autistic adults including (1) understanding and supporting specific needs in adulthood, (2) experiences of trauma, abuse and sexual violence, (3) supporting mental health and wellbeing, (4) addressing barriers in healthcare, (5) understanding and supporting physical health needs, (6) addressing barriers in education and the workplace, (7) understanding the role of society, embracing neurodiversity and the importance of Autistic identity and (8) co-designing research and supports with Autistic people. We provide a discussion around the importance of focusing on these research priority areas in future autism research in Australia.

Predicting Communication Skills Outcomes for Preschool Children with Autism Spectrum Disorder Following Early Intervention.

Purpose: This study aims to assess changes in the receptive and expressive language skills and to determine if the baseline characteristics such as communication, cognitive and motor skills, predict outcomes in preschool children with Autism Spectrum Disorder (ASD) following early intervention. Methods: We recruited 64 children participating in the Early Start Denver Model (ESDM) early intervention program at an Autism Specific Early Learning and Care Center (ASELCC) in Australia. Baseline characteristics across various developmental domains was measured using the Mullen Scales of Early Learning (MSEL), Vineland Adaptive Behaviour Scales, 2nd Edition (VABS-II), and the ESDM Curriculum Checklist. Linear mixed-effects models were used to examine the effects of the intervention on outcomes. Fixed-effects such as time, groups (verbal and minimally verbal), and time-by-group interactions were assessed whilst adjusting for covariates. Further, multiple linear regression models were used to determine if the baseline characteristics were significant predictors of the outcomes following the early intervention. Results: Among the 64 children who participated in this study, 38 children were verbal, whereas 26 were deemed to have minimal verbal skills. The mean age of the sample was 4.1 years with a significant male predilection (83%) and from a culturally and linguistically diverse (CALD) background (64%). Findings of the linear mixed effects model showed significant within and between group differences in the ESDM subscales, indicating higher magnitude of changes in the verbal group compared to the minimally verbal group. Finally, the multiple linear regression models suggested that baseline MSEL visual reception and expressive language scores were predictive of changes in the ESDM receptive and expressive communication scores. Conclusion: Understanding a child's baseline skill levels may provide valuable clues regarding what interventions would work best, or which interventions may be less suitable for individual preschool-aged children with ASD.

The relationship between camouflaging and mental health in autistic children and adolescents.

Camouflaging involves the masking of autistic traits in social situations. While camouflaging may function as a potential barrier to the early diagnosis of autism, minimal research into camouflaging in autistic young people has been conducted. It is also important to evaluate the impact of camouflaging on the mental health of autistic children and adolescents. This study evaluated camouflaging in a sample of 359 female and 374 male autistic children and adolescents (4-17 years, 48.9% females). Findings indicated that camouflaging was a significant predictor of internalizing (i.e., anxiety, depression, somatic complaints) symptoms, when controlling for age, gender, and IQ. We also found evidence for some gender differences in camouflaging. Parents endorsed more autistic traits for females compared with males, whereas there were no differences in autistic traits across sex in the clinician-administered assessment. There was also evidence for a relationship between age and camouflaging, with adolescents showing a larger discrepancy between parent and clinician reported autistic traits. This has implications for clinical assessment and future research and is important for understanding how best to support the mental health of autistic children and adolescents.

'Living in a world that's not about us': The impact of everyday life on the health and wellbeing of autistic women and gender diverse people.

BACKGROUND: Autistic women and gender diverse people have specific needs related to their physical and mental health. They also experience more barriers to accessing services. While there are autobiographical accounts of the 'invisible' challenges that autistic women and gender diverse people face day-to-day, there has been limited research that explores how these experiences impact health and wellbeing. OBJECTIVES: This study aimed to understand the everyday experiences of autistic women and gender diverse people, and their impact on health and wellbeing. DESIGN: Qualitative methods were used to elicit rich information about the unique experiences of autistic women and gender diverse people. METHODS: We conducted semi-structured interviews with 31 autistic adults. The data were analysed using reflexive thematic analysis. RESULTS: We identified 3 themes and 10 subthemes. Our first theme described 'all the stuff that you have to do to get through life', including managing domestic tasks, parenting, unique health needs and co-occurring physical conditions. The second theme outlined the impact of 'living in a world that's not about us', describing how navigating the neurotypical world, managing gender role expectations and trying to fit impacts on mental health. Our third theme outlined the positive impacts of 'shedding all the layers and being myself', including the importance of formal identification, exploring autistic identity and community, and including autistic people in research to support them to 'have a good life on their own terms'. CONCLUSION: This study emphasized the importance of shifting the responsibility of health and wellbeing from the individual, and the importance of interpersonal, community, cultural, policy and societal factors in ensuring positive health outcomes for autistic women and gender diverse people. It also highlighted areas that enable autistic women and gender diverse people to flourish, including autistic community connectedness, positive relationships and autistic-affirming support from health professionals.

Influencing Best Practices for Genomic and Germline Testing in Urology.

INTRODUCTION: We evaluated germline and somatic testing practices and compared results from tissue and liquid biopsy specimens in a large community urology setting. METHODS: A retrospective analysis was performed on advanced prostate cancer patients from a single community practice between June 2016 and September 2021. Clinical data and sequencing results from tissue and liquid biopsy specimens were available for 389 patients. Genomic data were available for 81 tissues and 74 liquid biopsy specimens. Comparison of genomic findings included 81 tissues and 27 liquid biopsy specimens. The number of actionable biomarkers and patients screened and enrolled in clinical trials was assessed from germline and somatic testing. Frequency of pathogenically altered genes, alteration types, and biomarkers were assessed from tissue and liquid specimens. Alteration frequency was compared between specimen types for the top 25 altered genes. RESULTS: Clinically relevant alterations were found from germline and somatic testing in both tissue and liquid biopsy specimens. The frequency of microsatellite instability-high, tumor mutational burden-high, or alterations in homologous recombination repair genes was consistent with published findings. Concordance between tissue and liquid findings varied with low circulating tumor DNA. CONCLUSIONS: Germline and somatic testing is critical for treatment decisions and should be standard of care for community practices. Liquid biopsy is a viable alternative when circulating tumor DNA is high.

Experiences of Performing Daily Activities in Middle-Aged and Older Autistic Adults: A Qualitative Study.

This is the first study to investigate instrumental activities of daily living in older autistic adults. We conducted interviews with fifteen adults (mean age = 60.1, SD = 7.4, range = 50-73) from Australia with no intellectual disability. Analysis included both deductive and inductive steps, to categorise responses using the Occupational Performance Model Australia and identify themes across participants' experiences. Strengths and challenges were unique to the individual, as were the methods they had developed to manage tasks. Challenges occurred mostly at the interaction between aspects of the environment (sensory, cognitive, social and cultural) and personal factors such as health conditions and sensory sensitivities. Enhanced person-environment fit is needed, as is a shift in wider sociocultural attitudes to enable comfort and autonomy in later life.

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.

Prevalence, correlates and comorbidity of DSM-IV Cannabis Use and Cannabis Use Disorders in Australia.

OBJECTIVE: To report nationally representative findings on the prevalence, correlates, psychiatric comorbidity and treatment of DSM-IV Cannabis Use and Cannabis Use Disorders in Australia. METHOD: The 2007 National Survey of Mental Health and Wellbeing was a nationally representative household survey of 8841 Australians (16-85 years) that assessed symptoms of the most prevalent DSM-IV mental disorders. RESULTS: Prevalence of lifetime and 12-month cannabis use was 18% and 6%; prevalence of lifetime and 12-month cannabis use disorder was 6% and 1%. The conditional prevalence (proportion of ever users who met criteria for a disorder) of lifetime and 12-month cannabis use disorder was 32.2% and 14.3%. Current cannabis use disorders were more common in males (OR 2.0) and younger users (OR 4.6). Strong associations were observed between current cannabis use disorders and alcohol use disorders (OR 3.6) and current affective disorders (OR 3.0). Only 36.2% of those with current cannabis use disorders sought any treatment. CONCLUSIONS: The prevalence of cannabis use disorders in the Australian population is comparable with that in the USA. Current cannabis use disorders are highly concentrated in young Australians who have high levels of comorbidity. The low rates of treatment seeking warrant attention in treatment and prevention strategies.

Exploring Cultural Differences in Autistic Traits: A Factor Analytic Study of Children with Autism in China and the Netherlands.

Autism spectrum disorders are diagnosed globally, but recognition, interpretation and reporting may vary across cultures. To compare autism across cultures it is important to investigate whether the tools used are conceptually equivalent across cultures. This study evaluated the factor structure of the parent-reported Autism Spectrum Quotient Short Form in autistic children from China (n = 327; 3 to 17 years) and the Netherlands (n = 694; 6 to 16 years). Confirmatory factor analysis did not support the two-factor hierarchical model previously identified. Exploratory factor analysis indicated culturally variant factor structures between China and the Netherlands, which may hamper cross-cultural comparisons. Several items loaded onto different factors in the two samples, indicating substantial variation in parent-reported autistic traits between China and the Netherlands.

Patterns of sensory modulation by age and sex in young people on the autism spectrum.

Sensory modulation symptoms form a diagnostic criterion for autism spectrum disorder and are associated with significant daily functional limitations. Utilizing caregiver report on Short Sensory Profile-2 (SSP-2) for 919 autistic children (3-14.11 years), we examined the expression of sensory modulation symptoms by age and sex and investigated the existence of specific sensory modulation subtypes. Sensory modulation symptoms appeared to peak in frequency during middle childhood, particularly in sensory sensitivity and avoidance. Symptoms associated with sensory hypo-reactivity and seeking tended not differ between age cohorts. Males and females demonstrated similar overall sensory modulation profiles, however, females showed elevated symptoms relating to sensory sensitivity. Model-based cluster analysis revealed five interpretable sensory modulation subtypes which related to symptom severity (low, mid-range, high). Subtypes demonstrating mid-range symptom severity differed in focus on sensory hyper-reactivity or seeking symptoms. The findings of this study report for the first time that age-related differences in sensory modulation symptoms may be associated with sensory hyper-reactivity only. The subtyping results also suggest that sensory modulation symptom severity is a reliable means of classifying variance within autistic children, however, consideration of differences in the behavioral strategies employed by individuals to manage sensory modulation symptoms may inform tailored supportive strategies. LAY SUMMARY: We studied sensory symptoms such as over-responding, under-responding and sensation seeking behaviors in 919 autistic children and adolescents. We found that 6-12-year-olds and females displayed the most sensory over-responding symptoms. Autistic children could be grouped into mild, moderate, and severe levels of sensory symptoms, however, children differed in the type of strategies used to cope with their sensory symptoms meaning that they may require different intervention approaches.

The use of everyday and assistive technology in the lives of older autistic adults.

LAY ABSTRACT: Technology has the potential to help people with various support needs live more autonomous lives. This includes autistic individuals. In this article, we look at how older autistic adults use technology in their daily lives. Past research examining technology use and autism has mainly focused on helping children to learn new skills. To date, very little research has been conducted looking at how to create and design technology for use by older autistic adults. This is concerning because older autistic adults will likely have supports needs that match or exceed those of similarly aged non-autistic individuals. In this article, we spoke to autistic adults over 50 years about their daily experiences and how they use technology. We identified some important ways that older autistic adults use technology in their daily lives, as well as a number of support needs and barriers to technology use. Based on the findings, we were able to provide some guidelines and recommendations for technology developers and service providers to assist with designing, creating and using technology with older autistic adults.

The epidemiology of DSM-IV alcohol use disorders amongst young adults in the Australian population.

AIM: The aim of the study was to examine the descriptive epidemiology of 12-month alcohol use disorders (AUDs) amongst young adults in the Australian general population. METHODS: The 2007 National Survey of Mental Health and Well Being, a nationally representative household survey of 8841 Australian adults (16-85 years), assessed participants for symptoms of the most prevalent DSM-IV mental disorders. Young adults were over-sampled to provide detailed information on this age group. RESULTS: 11.1% of young adults in the Australian population were diagnosed with an AUD. Compared with the rest of the young adult sample, young adults with AUDs were at greater risk of reporting another drug use disorder, an anxiety disorder, high levels of consumption, a medium or high score on the Kessler Psychological Distress Scale, and a moderate to severe score on the WHO Disability Assessment Schedule 2.0. Mental health services were rarely used by young adults with AUDs. Difficulties in differentiating young adults diagnosed with abuse and those diagnosed with dependence with the criteria we used supported accumulating evidence questioning the validity of the abuse-dependence distinction. CONCLUSIONS: AUDs in young adulthood are prevalent and associated with comorbid psychopathology, risky levels of alcohol consumption and disability. Despite the clinical significance of AUDs in this age group, few young adults with these disorders use mental health services. In this age group, the proposed changes for DSM-V regarding the classification of AUD would seem helpful.