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Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with substantial clinical heterogeneity, especially in language and communication ability. There is a need for validated language outcome measures that show sensitivity to true change for this population. We used Natural Language Processing to analyze expressive language transcripts of 64 highly-verbal children and young adults (age: 6-23 years, mean 12.8 years; 78.1% male) with ASD to examine the validity across language sampling context and test-retest reliability of six previously validated Automated Language Measures (ALMs), including Mean Length of Utterance in Morphemes, Number of Distinct Word Roots, C-units per minute, unintelligible proportion, um rate, and repetition proportion. Three expressive language samples were collected at baseline and again 4 weeks later. These samples comprised interview tasks from the Autism Diagnostic Observation Schedule (ADOS-2) Modules 3 and 4, a conversation task, and a narration task. The influence of language sampling context on each ALM was estimated using either generalized linear mixed-effects models or generalized linear models, adjusted for age, sex, and IQ. The 4 weeks test-retest reliability was evaluated using Lin's Concordance Correlation Coefficient (CCC). The three different sampling contexts were associated with significantly (P

Pragmatic language difficulties, including unusual filler usage, are common among children with Autism Spectrum Disorder (ASD). This study investigated "um" and "uh" usage in children with ASD and typically developing (TD) controls. We analyzed transcribed Autism Diagnostic Observation Schedule (ADOS) sessions for 182 children (117 ASD, 65 TD), aged 4 to 15. Although the groups did not differ in "uh" usage, the ASD group used fewer "ums" than the TD group. This held true after controlling for age, sex, and IQ. Within ASD, social affect and pragmatic language scores did not predict filler usage; however, structural language scores predicted "um" usage. Lower "um" rates among children with ASD may reflect problems with planning or production rather than pragmatic language.

Limited access to screening and evaluation for autism spectrum disorder in children is a major barrier to improving outcomes for marginalized families. To identify and evaluate available digital autism spectrum disorder screening resources, we simulated web and mobile app searches by a parent concerned about their child's likelihood of autism spectrum disorder. Included digital autism spectrum disorder screening tools (a) were on Internet or mobile app; (b) were in English; (c) had a parent user inputting data; (d) assigned likelihood category to child <9 years; and (e) screened for autism spectrum disorder. Ten search terms, developed using Google Search and parent panel recommendations, were used to search web and app tools in the United States, the United Kingdom, India, Australia, and Canada using Virtual Private Networks. Results were examined for attributes likely to benefit parents in marginalized communities, such as ease of searching, language versions, and reading level. The four terms most likely to identify any tools were "autism quiz," "autism screening tool," "does my child have autism," and "autism toddler." Three out of five searches contained autism spectrum disorder screening tools, as did one of 10 links or apps. Searches identified a total of 1475 websites and 919 apps, which yielded 23 unique tools. Most tools required continuous Internet access or offered only English, and many had high reading levels. In conclusion, screening tools are available, but they are not easily found. Barriers include inaccessibility to parents with limited literacy or limited English proficiency, and frequent encounters with games, advertisements, and user fees.

Expressive language sampling (ELS) is a frequently used tool for language analysis, as it can be used across widely ranging cognitive and language abilities. ELS can also evaluate pragmatic language, including excessive self-repetition, which is challenging to assess with traditional standardized assessments. This study explored how a well-established ELS protocol can assess three types of linguistic self-repetition in three neurodevelopmental disabilities: fragile X syndrome (FXS), autism spectrum disorder (ASD), and Down syndrome (DS). We examined its ability to differentiate between these disorders, the relationships between repetitive language and other participant characteristics, and initial construct validity. We found that the groups with FXS and ASD differed significantly on each of the three repetitive language measure, and that the group with DS differed from either ASD or FXS on two. Cognitive ability was significantly related to phrase repetition in the group with ASD. When the groups were combined, there was evidence of convergent and divergent validity. This study extends previous research on ELS and supports its use as a means to characterize pragmatic language. It also provides information about the relationships between repetitive language and other phenotypic characteristics.

The SPARK cohort was established to facilitate recruitment in studies of large numbers of participants with autism spectrum disorder (ASD). Online registration requires participants to have received a lifetime professional diagnosis by health or school providers although diagnoses are not independently verified. This study was set to examine the validity of self- and caregiver-reported autism diagnoses. Electronic medical records (EMR) of 254 SPARK participants (77.6% male, age 10.7 years) were abstracted. Using two different methods, confirmation of ASD diagnosis in EMRs was obtained in 98.8% of cases. Core clinical features recorded in EMRs were typical of autism samples and showed very good agreement with SPARK cohort data, providing further evidence of the validity of clinical information in the SPARK database.

Black children with autism are diagnosed at an older age. Whether or not late detection is paralleled by differing clinical presentation is not known. We evaluated symptom profiles of 245 Black and 488 sex- and age-matched White non-Hispanic participants (82.8% male; mean age: 4.2 years) referred for ASD diagnosis. Both groups showed similar overall levels of autistic symptoms. Black children had significantly but slightly lower scores on cognitive tests and on the Vineland communication domain than White children. Groups were comparable on internalizing and externalizing co-occurring problems. Given the largely similar clinical profiles, clinical differences in initial presentation may not be a primary reason for Black/White disparities in diagnostic and services use. Limitations of a cross-sectional referred sample are acknowledged.

Recent worldwide epidemiological surveys of autism conducted in 37 countries are reviewed; the median prevalence of autism is 0.97% in 26 high-income countries. Methodological advances and remaining challenges in designing and executing surveys are discussed, including the effects on prevalence of variable case definitions and nosography, of reliance on parental reports only, case ascertainment through mainstream school surveys, innovative approaches to screen school samples more efficiently, and consideration of age in interpreting surveys. Directions for the future of autism epidemiology are discussed, including the need to systematically examine cross-cultural variation in phenotypic expression and developing surveillance programs.

Mobile health (mHealth) screening tools for autism are gaining in prevalence, and have benefits such as video content and direct resources linkage. However, it is unclear whether such tools will ameliorate autism inequities or will help only those already advantaged in autism care. To investigate this issue, we conducted semi-structured qualitative interviews with 18 primary care and Early Intervention/Early Childhood Special Education providers in six US states. Providers were given hypothetical scenarios in which a family presents to care with results from one of 9 mHealth autism screening tools. Providers discussed their clinical approach and assessed the tool's fit with their patient/client population. Each transcript was audio-recorded, transcribed, and coded; a phenomenological approach was used to develop key themes. 4 themes and 18 subthemes emerged. These included Clinical and business factors (e.g. scope of practice concerns and clinical efficiency), Validity and trustworthiness (e.g. familiarity, data privacy/security), Family interaction quality (e.g. supporting family advocacy, provision of information, affecting family anxiety, and emotional support), and Accessibility (e.g. English proficiency/language issues, cultural inclusivity, and literacy/educational level). Providers suggested modifications to enhance equity, such as portraying diverse families, reducing the reading level of text, and making tools shorter to better fit clinical context. Families may find information about autism online, and health care and education providers may use online tools to screen for autism. However, we do not know if online autism screening tools are easily used by families and providers. We interviewed primary care and educational providers, asking them to review results from online tools that screen for autism. Providers had concerns about how usable and accessible these tools are for diverse families and suggested changes to make tools easier to use. [ABSTRACT FROM AUTHOR]

Parents of children with autism spectrum disorder (ASD) and other chronic health conditions often face exceptional caregiving demands that can lead to challenges related to maintaining and succeeding in employment. Detailed information on the specific ways in which these health conditions impact parent employment could aid in designing equitable, effective policies to support families. The r‐Kids study used electronic health records to identify three groups of children: those with ASD, asthma, or neither condition (control), from several health care systems. We oversampled racial and ethnic minorities and matched the asthma and control groups to the age and sex distribution of the ASD group. Parents completed three online surveys over the course of a year to measure annual employment outcomes. Surveys included the Family Economic Impact Inventory (measuring employment impacts) and measures of quality of life and symptom severity. All materials were provided in English and Spanish. The study enrolled 1461 families (564 ASD, 468 asthma, 429 control). Youth were 3–16.5 years old and predominantly male (79%). The sample was diverse (43% non‐Hispanic White; 35% non‐Hispanic Asian, Black, Native Hawaiian, or Other; and 21% Hispanic ethnicity). Parents of children with ASD were significantly less likely to be employed than parents of youth with asthma and control combined (OR: 14.2, p < 0.001), and were more likely to have other difficulties with employment and productivity while at work. Public and employer policies to help mitigate these impacts could aid families in managing care for youth with ASD. Lay Summary: Caring for a child with a chronic health condition such as autism spectrum disorder (ASD) can interfere with parental employment in a number of ways. We found that parents of children with ASD are less likely to be employed, and when they are employed, many face challenges in managing productivity and caregiving. A detailed understanding of these impacts can guide clinical and employment policies to help families navigate the financial implications of a child's health condition. [ABSTRACT FROM AUTHOR]

An editorial is presented on possibility of genetic influences on autism. Topics include advances of the Human Genome Project and the development of large-scale sequencing and genome-wide association; and co-occurring with either intellectual disability, epilepsy, chromosomal abnormalities, or congenital malformations.

Background: Primary care physicians (PCPs) may rely upon factors other than screening test scores in making referral decisions to developmental services. This study investigated which patient, provider, and screening test factors predict a PCP's IDEA Part C Early Intervention (EI) referral after a positive screening test result., Methods: Child demographics, developmental screening test results and EI referral decisions were collected via medical record review of 2,756 15-, 18-, 24- and 30-month well-child checks conducted at 7 community primary care clinics in 4 Oregon counties, in 2020-2021. A provider survey collected PCP demographic and professional characteristics. We tested the association of receipt of EI referral with screening test (Ages & Stages-3 [ASQ-3] and Modified Checklist for Autism in Toddlers - Revised [MCHAT-R]) scores, provider demographic information, child demographic data (sex, language, race/ ethnicity), using multivariable logistic regression., Results: 54.1% of children with positive MCHAT-R screens, and 42% of children with positive ASQ-3 screens received EI referrals. Multivariable analyses showed that MCHAT-R score, ASQ-3 Communication and Gross Motor scores were associated with referral after a positive screen. Child sex, race, ethnicity, and language, and provider demographics had no multivariable association with referral. Referral rates varied substantially by site and individual provider., Conclusion: The majority of toddlers with positive developmental screens were not receiving EI referrals from their PCP during the COVID-19 pandemic. Screening test thresholds and clinical thresholds for EI referral differ substantially, and some portions of the ASQ-3 do not seem to impact provider referral decisions. These findings may help inform physician training on developmental screening in primary care, specifically during times of unprecedented healthcare challenges., Competing Interests: Declaration of Competing Interest The authors of this work have no conflicts of interests to disclose., (Copyright © 2024. Published by Elsevier Inc.)

Lay Abstract: Families may find information about autism online, and health care and education providers may use online tools to screen for autism. However, we do not know if online autism screening tools are easily used by families and providers. We interviewed primary care and educational providers, asking them to review results from online tools that screen for autism. Providers had concerns about how usable and accessible these tools are for diverse families and suggested changes to make tools easier to use., Competing Interests: Declaration of conflicting interestsThe author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: S.B.-F. is on the Scientific Advisory Board of EarliTec Diagnostics Inc. No other authors have conflicts of interest to disclose.

Parents of children with autism spectrum disorder (ASD) and other chronic health conditions often face exceptional caregiving demands that can lead to challenges related to maintaining and succeeding in employment. Detailed information on the specific ways in which these health conditions impact parent employment could aid in designing equitable, effective policies to support families. The r-Kids study used electronic health records to identify three groups of children: those with ASD, asthma, or neither condition (control), from several health care systems. We oversampled racial and ethnic minorities and matched the asthma and control groups to the age and sex distribution of the ASD group. Parents completed three online surveys over the course of a year to measure annual employment outcomes. Surveys included the Family Economic Impact Inventory (measuring employment impacts) and measures of quality of life and symptom severity. All materials were provided in English and Spanish. The study enrolled 1461 families (564 ASD, 468 asthma, 429 control). Youth were 3-16.5 years old and predominantly male (79%). The sample was diverse (43% non-Hispanic White; 35% non-Hispanic Asian, Black, Native Hawaiian, or Other; and 21% Hispanic ethnicity). Parents of children with ASD were significantly less likely to be employed than parents of youth with asthma and control combined (OR: 14.2, p < 0.001), and were more likely to have other difficulties with employment and productivity while at work. Public and employer policies to help mitigate these impacts could aid families in managing care for youth with ASD., (© 2022 International Society for Autism Research and Wiley Periodicals LLC.)