Autism research : official journal of the International Society for Autism Research最新文献

Research and clinical work demonstrate that adults with intellectual and developmental disabilities (IDDs; including autistic adults and adults with other IDDs) struggle with key outcomes in adult life, including social relationships, employment, autonomy, and life satisfaction. However, few validated measures exist to measure these outcomes in adults with IDDs. The Relationships, Employment, Autonomy, and Life Satisfaction (REALS) Measures were created using methods developed by the Patient-Reported Outcomes Measurement Information System (PROMIS) to assess these outcomes. Large item pools were generated for the four domains, and, in field testing, 875 adults with IDDs (90% autistic; 18.4% with intellectual disability or a non-autism IDD) and 911 proxy reporters (caregivers; 79% autistic; 48.3% with intellectual disability or a non-autism IDD) completed 108 and 74 items, respectively, using response options capturing frequency, level of support needed, and satisfaction. The structure and item content of the REALS Measures were determined through an iterative process using both classical test theory and item response theory analyses. The final versions include 19 self-report and 14 proxy-report measures, with a range of 3 to 14 items each. The measures have excellent psychometric properties, high precision, and acceptable respondent burden. Thus, they are applicable for service provision, clinical, and research arenas for autistic adults and adults with other IDDs, though additional testing in IDD is warranted and evidence supporting self-report use in IDD is more limited.

Parents of autistic children are at a higher risk for mental health problems, including anxiety, depression, and stress. Cognitive behavior therapy (CBT) that targets children's emotion regulation may have an indirect influence on parent outcomes, especially if they play a supporting role in their child's intervention. However, most CBT interventions have been carried out in highly controlled research settings and there are a few studies that examined parental outcomes after participating in autistic child-focused CBT within a community setting. The current study examined parent outcomes (i.e., mental health problems, mindful parenting, and parenting practices) following a community-based CBT program with concurrent parent involvement for autistic children, as well as associations between changes in parent and child outcomes (i.e., autism symptoms and emotion dysregulation). Participants included 77 parent-child dyads across seven community organizations in Ontario, Canada. Parents reported improved mindful parenting and positive parenting practices post-intervention, and no significant changes in their mental health. Multiple mediation analyses revealed that positive changes in parent outcomes (i.e., mindful parenting and parenting practices) were associated with positive changes in child emotion regulation. These positive changes in parenting practices mediated the relationship between mindful parenting and child emotion regulation. Results suggest that participating in community-based CBT is mutually beneficial for autistic children and their parents, particularly in improving parenting behaviors.

Central sensitivity syndromes (CSSs) are a group of health conditions thought to include an underlying sensitisation of the central nervous system. Evidence suggests autistic adults experience poorer physical health than the general population and are more likely to have a CSS. This study examined CSS diagnoses and symptoms in autistic and non-autistic adults, to determine whether CSS symptoms were related to autistic traits, mental health, sensory sensitivity, age or gender. Participants included 534 adults with clinical diagnoses of autism, CSS, both diagnoses or neither (i.e., comparison group), who were recruited through social media, support groups and institutional affiliations. Participants completed online self-report validated questionnaires, including the Autism Spectrum Quotient (AQ), Central Sensitization Inventory (CSI), Sensory Perception Quotient (SPQ), and the PHQ-9 and GAD-7. Autistic people without a diagnosed CSS reported significantly more CSS symptoms than the comparison group, with a mean score above the clinical cut-off. Non-autistic participants with a CSS had significantly more autistic traits than the comparison group. Autistic people with a CSS reported the most sensory sensitivity, with autism only and CSS only groups reporting similar levels of sensory sensitivity and all diagnostic groups reporting more sensory sensitivity than the comparison group. Sensory sensitivity, anxiety, autistic traits, age and gender were all significant predictors of CSS symptoms. The overlap in symptoms between autistic individuals and those with CSS suggests diagnostic overshadowing and possible under-diagnosis or misdiagnosis. Furthermore, these symptoms may exacerbate or mask one another. Notwithstanding potential limitations of representativeness and selection bias, increased awareness of the association between autistic traits and CSS symptoms is important for clinicians to improve diagnostic accuracy and treatment.

Although autism is a childhood-onset neurodevelopmental disorder, its features change across the life course due to a combination of individual and contextual influences. However, the influence of contextual factors on development during childhood and beyond is less frequently studied than individual factors such as genetic variants that increase autism risk, IQ, language, and autistic features. Potentially important contexts include the family environment and socioeconomic status, social networks, school, work, services, neighborhood characteristics, environmental events, and sociocultural factors. Here, we articulate the benefit of studying contextual factors, and we offer selected examples of published longitudinal autism studies that have focused on how individuals develop within context. Expanding the autism research agenda to include the broader context in which autism emerges and changes across the life course can enhance understanding of how contexts influence the heterogeneity of autism, support strengths and resilience, or amplify disabilities. We describe challenges and opportunities for future research on contextual influences and provide a list of digital resources that can be integrated into autism data sets. It is important to conceptualize contextual influences on autism development as main exposures, not only as descriptive variables or factors needing statistical control.

Despite substantial evidence linking insomnia with increased suicidality in non-autistic populations, its role in autism remains under-explored. Poor sleep, most commonly insomnia symptoms (hereafter insomnia), is a significant issue in autism, affecting up to 80% of autistic children and adults, compared with 30%-50% of children and about 45% of adults in the general population. Sleep, along with quality of life, anxiety, depression, and social well-being, is a top mental health research priority for autistic adults. These factors are all significantly associated with insomnia in both autistic and non-autistic individuals. Current findings highlight the association between depression, psychosocial factors, and suicidality in autistic individuals. Key factors in suicidality for autistic people include increased autistic traits, loneliness, lack of social support, and experiences such as camouflaging and burnout. What is under-explored is the role of sleep in suicidality and mental health in autism. Effective psychological interventions for insomnia in autistic individuals are lacking, and there is limited understanding of whether treating insomnia can reduce suicidality. Only two pilot studies have investigated insomnia treatments for autistic adults. In this commentary, we argue that, given the high rate of suicidality in autism and the potential role of insomnia, it is crucial to investigate whether insomnia contributes to suicidality in autistic people and if addressing sleep through prevention strategies, supports, and interventions improves outcomes. Collaboration with the autistic community is essential for addressing this knowledge gap and developing effective interventions.

A growing body of literature suggests that youth with autism spectrum disorders (ASD), herein, autistic youth, face an increased risk of being exposed to adverse childhood experiences (ACEs). However, trauma-informed approaches to care among autistic youth remain limited. In a large cross-sectional survey of ASD providers (N = 670) recruited from five U.S. locations, we examined the association between neighborhood resources using the Child Opportunity Index (i.e., educational, health/environmental, and social/economic opportunities) and the frequency at which providers engaged in trauma-informed care (i.e., inquire about, screen for, treat, and provide referrals for trauma diagnosis and treatment) and the types of adverse childhood experiences (ACEs) they screen for (i.e., maltreatment/neglect and household dysfunction). The latent model revealed that providers in neighborhoods with fewer resources engaged in more trauma-informed care and were more likely to screen for ACEs related to household dysfunction. Follow-up exploratory analyses indicated that providers in the lowest 20% of opportunity neighborhoods made the greatest efforts in trauma screening for maltreatment and household dysfunction, followed closely by those in the lowest 40%, compared to higher-opportunity areas. Sensitivity analyses, controlling for potential nesting effects, confirmed similar results. These findings may suggest a concerted effort to ensure that autistic youth in highly disadvantaged areas receive adequate trauma screening. However, lower screening rates in higher-resourced neighborhoods may mean trauma-exposed autistic youth in these areas are overlooked. Expanding provider training to emphasize trauma inquiry across all neighborhoods could help address this gap. Limitations, implications for policy and practice, and future directions are discussed.

The present study aimed to evaluate the reliability and validity of the Childhood Autism Rating Scale: Second Edition (CARS2) in diagnosing individuals with autism in Iran. A mixed-method approach was used and 313 participants were recruited, with an age range of 2-32 years, for CARS2-Standard Form (ST) and 218 individuals aged 6-25 years for CARS2-High Functioning (HF). The participants were recruited from daycare centers, schools, and clinics with different developmental trajectories: autism, intellectual disabilities, and neurotypical development. All participants with autism and intellectual disabilities had been clinically diagnosed previously. In addition, the CARS2-Questionnaire of Parent Concerns (QPC) was used to gather qualitative data on 30 randomly selected parents and the perspectives of the 20 test administrators were also collected. The CARS2 had high internal consistency, inter-rater reliability, and test-retest reliability. Factor analyses revealed a one-factor structure for CARS2-ST and a three-factor structure for CARS2-HF. When adjustments were made to the cut-off points, the discriminant analyses indicated that CARS2 effectively differentiated between those with autism and typical development but less so with persons who had intellectual disabilities. The qualitative data analysis and the extracted themes suggest that the CARS2-QPC is a valid tool for collecting autism-related information from parents. Our findings suggest that the CARS2 is broadly a reliable and valid instrument for diagnosing autism spectrum in Iran in the absence of more extensive assessments.

Among autistic individuals, a subphenotype of disproportionate megalencephaly (ASD-DM) seen at three years of age is associated with co-occurring intellectual disability and poorer prognoses later in life. However, many of the genes contributing to ASD-DM have yet to be delineated. In this study, we identified additional ASD-DM candidate genes with the aim to better define the genetic etiology of this subphenotype of autism. We expanded the previously studied sample size of ASD-DM individuals ten fold by including probands from the Autism Phenome Project and Simons Simplex Collection, totaling 766 autistic individuals meeting the criteria for megalencephaly or macrocephaly and revealing 154 candidate ASD-DM genes harboring de novo protein-impacting variants. Our findings include 14 high confidence autism genes and seven genes previously associated with DM. Five impacted genes have previously been associated with both autism and DM, including CHD8 and PTEN. By performing functional network analysis, we expanded to additional candidate genes, including one previously implicated in ASD-DM (PIK3CA) as well as 184 additional genes connected with ASD or DM alone. Using zebrafish, we modeled a de novo tandem duplication impacting YTHDF2, encoding an N6-methyladenosine (m⁶A)-mRNA reader, in an ASD-DM proband. Testing zebrafish CRISPR knockdown led to reduced head/brain size, while overexpressing YTHDF2 resulted in increased head/brain size matching that of the proband. Single-cell transcriptomes of YTHDF2 gain-of-function larvae point to reduced expression of Fragile-X-syndrome-associated FMRP-target genes globally and in the developing brain, providing insight into the mechanism underlying autistic phenotypes. We additionally discovered a variant impacting a different gene encoding an m⁶A reader, YTHDC1, in our ASD-DM cohort. Though we highlight only two cases to date, our study provides support for the m⁶A-RNA modification pathway as potentially contributing to this severe form of autism.

Of the 1 in 36 individuals in the United States who are diagnosed with autism spectrum disorder, nearly 40% also have intellectual disability (ID). The cortex has been widely implicated in neural processes underlying autistic behaviors as well as intellectual ability. Thus, neuroimaging features such as cortical thickness are of particular interest as a possible biomarkers of the condition. However, neuroimaging studies often fail to include autistic individuals with ID. As a result, there are few studies of cortical thickness in autistic individuals across the entire range of intellectual abilities. This study used MRI to evaluate cortical thickness in young autistic children (n = 88, mean age 5.37 years) with a large range of intellectual ability (IQ 19-133) as well as nonautistic, nondevelopmentally delayed (referred to here as typically developing [TD]) peers (n = 53, mean age 5.29 years). We first investigated associations between full scale IQ and cortical thickness in both autistic and TD children. Autistic children had significant negative associations (i.e., thinner cortex, higher IQ) in bilateral entorhinal cortex, right fusiform gyrus, superior, middle and inferior temporal gyri, and right temporal pole that were not present in TD children. Significantly thicker cortex was also observed in these regions for autistic children with ID (i.e., IQ ≤ 70) compared with those without. Last, given the reported correspondence between the severity of autism symptoms and intellectual ability, we compared cortical thickness associations with both IQ and ADOS Calibrated Severity Scores and found these patterns overlapped to a significant degree across the cortex.

Neurodevelopmental disorders (NDDs) encompass a group of conditions that impact brain development and function, exhibiting significant genetic and clinical heterogeneity. NAA15, the auxiliary subunit of the N-terminal acetyltransferase complex, has garnered attention due to its association with NDDs. However, the precise role of NAA15 in cortical development and its contribution to NDDs remain elusive. By employing targeted sequencing on a large Chinese cohort affected by ASD and conducting an extensive literature review, we have compiled 64 distinct variants in the NAA15 gene identified among individuals with neurodevelopmental disorders. Our research demonstrates that loss of NAA15 leads to a substantial increase in neuronal count, potentially resulting in aberrant brain development and triggering repetitive as well as anxious behaviors in mice models. Furthermore, disorder-associated variants within NAA15 impair axon and synapse formation processes crucial for neural connectivity establishment. These findings shed light on the consequences of NAA15 deficiency along with its de novo mutations on brain development while unraveling the cellular mechanisms underlying NDDs.