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Background: Many youths with an autism spectrum disorder (ASD) benefit from psychotropic medication treatment of co-morbid symptom patterns consistent with attention-deficit/hyperactivity disorder (ADHD). The lack of clear indications and algorithms to direct clinical practice has led to a very poor understanding of overall medication use for these youths. The present study examined the prevalence of psychotropic medication use compared across individuals with an ASD without a caregiver-reported ADHD diagnosis (ASD-only), ADHD without ASD (ADHD-only), and an ASD with co-morbid ADHD (ASD+ADHD). Correlates of medication use were also examined.Methods: Data on psychotropic medication from the first wave of the National Longitudinal Transition Study 2, a nationally representative study of adolescents ages 13-17 in special education, were used to compare the prevalence of medication use across the three groups, overall and by class. Separate logistic regression models were constructed for each group to examine the correlates of psychotropic medication use. Poisson regression models were used to examine correlates of the number of medications.Results: Youths with ASD+ADHD had the highest rates of use (58.2%), followed by youths with ADHD-only (49.0%) and youths with ASD-only (34.3%). Youths with an ASD, both ASD-only and ASD+ADHD, used medications across a variety of medication classes, whereas stimulants were dominant among youths with ADHD-only. African American youths with ASD-only and with ASD+ADHD were less likely to receive medication than white youths, whereas race was not associated with medication use in the ADHD-only group.Conclusions: Clearer practice parameters for ADHD have likely contributed to more consistency in treatment, whereas treatment for ASD reflects a trial and error approach based on associated symptom patterns. Additional studies examining the treatment of core and associated ASD symptoms are needed to guide pharmacologic treatment of these youths. Interventions targeting African American youths with ASD and the physicians who serve them are also warranted. [ABSTRACT FROM AUTHOR]

Objective: The study described service utilization among children with emotional and behavioral disorders making a first visit to outpatient mental health clinics in four Midwest cities.Methods: Data were from the Longitudinal Assessment of Manic Symptoms study. A total of 707 youths aged six to 12 years 11 months and their parents completed diagnostic assessments; demographic information and mental health service use was self-reported. Analyses examined the relationship of demographic variables, diagnoses, impairment, and comorbidity with type and level of services utilized.Results: Utilization was multimodal; half the youths had received outpatient and school services during their lifetime. Factors unrelated to need (age, sex, race, and insurance) were associated with service type. Children with a bipolar spectrum disorder had higher use of inpatient services than those with depressive or disruptive disorders and were more likely to currently use two or more services. More than half of youths with bipolar or depressive disorders had lifetime use of both medication and therapy, whereas youths with a disruptive behavior disorder were more likely to have used only therapy. Impairment and comorbidity were not related to service utilization.Conclusions: Use of services began at a very young age and occurred in multiple service sectors. Type of service used was related to insurance and race, underscoring the need for ongoing disparities research. Contrary to findings from administrative data analyses, use of medication alone was infrequent. The low rate of use of combination therapy suggests that clinicians and families need to be educated about the effectiveness of multimodal treatment. [ABSTRACT FROM AUTHOR]

Aim: To replicate and extend previous psychometric findings for the Autism Symptom Dimensions Questionnaire (ASDQ)., Method: Using a cross-sectional design in two samples, including a total of 3366 children and adolescents (aged 2-17 years; 1399 with autism spectrum disorder) and a small case series, factor structure, measurement invariance, reliability, construct validity, screening and diagnostic efficiency, and detection of reliable change were examined for the ASDQ., Results: Strong psychometric properties were observed, including replicable factor structure, strong measurement invariance, adequate-to-excellent scale and conditional reliability, strong convergent and discriminant validity, and good screening efficiency. Importantly, two crucial measurement aspects required for a good treatment outcome measure were found, that is, good test-retest stability and the potential to detect reliable change. As expected for an informant-reported questionnaire, diagnostic efficiency was weak., Interpretation: The ASDQ showed evidence of favorable and well-replicated psychometric properties in two samples. Good screening but weak diagnostic efficiency, coupled with good test-retest stability, suggest that optimal clinical use is in screening and in detailed clinical characterization beyond what is offered by current informant-reported measures, with the potential for monitoring response to intervention. Despite relative brevity, the ASDQ provides good coverage of broad and specific aspects of the autism behavioral phenotype, which is consistent with the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition., (© 2024 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Self-injurious behaviors (SIB) commonly occur in autism spectrum disorder (ASD) and span diverse topographies of self-inflicted behaviors ranging from head banging to hitting oneself against hard objects. Despite the high rates of SIB in autistic individuals, relatively little research has focused on psychological factors associated with the development and maintenance of SIB in individuals with autism and moderate-profound intellectual disability (ID). This commentary synthesizes existing literature on SIB and highlights the need for more research focused on psychological correlates and mechanisms in autistic individuals with moderate-profound ID. We highlight the key role of difficulties in emotion regulation (ER) and co-occurring internalizing symptoms in the manifestation of self-harm behaviors in clinical samples and autism. Furthermore, this commentary proposes a framework for understanding the interplay between poor ER and internalizing symptoms in the development and maintenance of SIB in autistic individuals with moderate-profound ID. Specifically, we explore the emergence of SIB in the context of precipitating cues that trigger strong emotions, ER processes and strategy deployment, and co-occurring internalizing symptoms. Future directions and implications for longitudinal research, measurement development, and clinical treatments are discussed., (© 2024 International Society for Autism Research and Wiley Periodicals LLC.)

Social attention is a key aspect of neurodevelopment and is significantly altered in neurodevelopmental genetic syndromes and many individuals with idiopathic autism spectrum disorder (ASD). The primary aim of the present study was to examine the psychometric properties of webcam-collected social attention measurements, including four new specific aspects of social attention, in three genetic syndromes (PTEN Hamartoma Tumor Syndrome-PHTS; Malan Syndrome-NFIX; and SYNGAP1-related disorder-SYNGAP1), a mixed group of other neurodevelopmental genetic syndromes (Other NDGS), and individuals with a range of idiopathic neurodevelopmental disorder (NDD). The secondary aim was to evaluate the construct validity of these social attention measurements, including evaluating known-groups validity across study groups and concurrent validity for separating ASD and non-ASD cases. Participants (N = 467, age 3-45; PHTS n = 102, NFIX n = 23, SYNGAP1 n = 42, other NDGS n = 63, idiopathic NDD n = 53, neurotypical siblings n = 71, and unrelated neurotypical controls n = 113) completed a 4-min online-administered social attention paradigm that includes a variety of distinct stimuli at three timepoints (baseline, 1-month, and 4-month follow-up). Social attention measures had good scale and test-retest reliability, with the exception of measures of non-social preference and face-specific processing. Unique patterns of social attention emerged across study groups, with near neurotypical levels in PHTS and weaker social attention in NFIX and SYNGAP1 relative to controls. Global social attention had good accuracy in detecting ASD within NDGS participants. Remote monitoring social attention, including distinct aspects of social attention, may be useful for characterizing phenotypic profiles and tracking the natural history of distinct NDGS and idiopathic NDD as well as identifying ASD within NDGS. Given their reproducibility and stability, global social attention and several distinct social attention measures may be useful outcomes for future clinical trials., (© 2024 The Author(s). Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Aim: To examine neurobehavioral findings in three genetic syndromes (PTEN hamartoma tumor syndrome, Malan syndrome [mutations in the NFIX gene], and SYNGAP1-related disorder), a mixed group of other neurodevelopmental genetic syndromes (NDGS), idiopathic neurodevelopmental disorder, and neurotypical control participants., Method: Using a longitudinal case-control design, caregivers reported neurobehavioral information for 498 participants (PTEN hamartoma tumor syndrome n = 112, Malan syndrome n = 24, SYNGAP1-related disorder n = 47, other NDGS n = 72, idiopathic neurodevelopmental disorder n = 54, neurotypical siblings n = 74, and unrelated neurotypical control participants n = 115) at three timepoints (baseline, and 1-month and 4-month follow-ups) using the online-administered Neurobehavioral Evaluation Tool (NET)., Results: NET scales had good scale and test-retest reliability. Unique patterns of neurobehavioral findings emerged, with SYNGAP1-related disorder and Malan syndrome showing generally more severe symptom and skill patterns than for other groups of patients. Patterns could be partly accounted for by estimated cognitive level, speech level, and the presence of autism spectrum disorder. However, even when accounting for these factors, group differences remained. Reliable change indices are reported., Interpretation: Genetic syndromes associated with neurodevelopmental disorders present with unique neurobehavioral profiles that can inform selection of outcome measures in future clinical trials. The NET may be a useful screening and monitoring instrument in clinical practice, where frequent in-person clinic attendance is difficult for many patients., (© 2024 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Importance: Deep brain stimulation (DBS) results in improvements in motor function and quality of life in patients with Parkinson disease (PD), which might impact a patient's perception of valued personal characteristics. Prior studies investigating whether DBS causes unwanted changes to oneself or one's personality have methodological limitations that should be addressed., Objective: To determine whether DBS is associated with changes in characteristics that patients with PD identify as personally meaningful., Design, Setting, and Participants: This cohort study assessed changes in visual analog scale (VAS) ratings reflecting the extent to which patients with PD manifested individually identified personal characteristics before and 6 and 12 months after DBS at a large academic medical center from February 21, 2018, to December 9, 2021. The VAS findings were tailored to reflect the top 3 individually identified personal characteristics the patient most feared losing. The VASs were scored from 0 to 10, with 0 representing the least and 10 the most extreme manifestation of the trait. Change scores were examined at the individual level. Content analysis was used to code the qualitative data. Qualitative and quantitative analyses were performed from January 12, 2019 (initial qualitative coding), to December 15, 2023., Exposure: Deep brain stimulation., Main Outcomes and Measures: The primary outcome variable was the mean VAS score for the top 3 personal characteristics. The secondary outcome was the incidence of meaningful changes on the patients' top 3 characteristics at the individual level., Results: Fifty-two of 54 dyads of patients with PD and their care partners (96.3%) were recruited from a consecutive series approved for DBS (36 patients [69.2%] were male and 45 care partners [86.5%] were female; mean [SD] age of patients, 61.98 [8.55] years). Two patients and 1 care partner were lost to follow-up. Increases in the mean VAS score (indicative of greater manifestation of [ie, positive changes in] specific characteristics) were apparent following DBS for ratings of both the patients (Wald χ2 = 16.104; P < .001) and care partners (Wald χ2 = 6.746; P < .001) over time. The slopes of the changes for both the patient and care partners were correlated, indicating agreement in observed changes over time. The individual level analyses indicated that scores for most patients and care partners remained the same or increased., Conclusions and Relevance: In this cohort study, participants reported greater (more positive) manifestations of individually identified, valued characteristics after DBS. These findings may be relevant to informing decision-making for patients with advanced PD who are considering DBS.

Purpose: The aim of the present study was to compare scale and conditional reliability derived from item response theory analyses among the most commonly used, as well as several newly developed, observation, interview, and parent-report autism instruments., Methods: When available, data sets were combined to facilitate large sample evaluation. Scale reliability (internal consistency, average corrected item-total correlations, and model reliability) and conditional reliability estimates were computed for total scores and for measure subscales., Results: Generally good to excellent scale reliability was observed for total scores for all measures, scale reliability was weaker for RRB subscales of the ADOS and ADI-R, reflecting the relatively small number of items for these measures. For diagnostic measures, conditional reliability tended to be very good (> 0.80) in the regions of the latent trait where ASD and non-ASD developmental disability cases would be differentiated. For parent-report scales, conditional reliability of total scores tended to be excellent (> 0.90) across very wide ranges of autism symptom levels, with a few notable exceptions., Conclusions: These findings support the use of all of the clinical observation, interview, and parent-report autism symptom measures examined, but also suggest specific limitations that warrant consideration when choosing measures for specific clinical or research applications., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Manifestations of insistence on sameness (IS) and circumscribed interests (CI) are complex, with individuals varying considerably, not only in the types of behaviours they express, but also in terms of a behaviour's frequency, intensity, trajectory, adaptive benefits, and impacts. However, current quantitative RRB instruments capture only certain aspects of these behaviours (e.g., mostly frequency or general "severity"). Thus, the current study utilised a semi-structured caregiver interview to provide an in-depth, qualitative characterization of different aspects of IS and CI presentation. Caregivers of 27 autistic children and adolescents displaying IS and/or CI behaviours (3-16 years; 18 males; 9 females) participated in a semi-structured interview. Responses were analysed using thematic framework analysis. Framework analysis identified nine different aspects of IS and CI presentation: (1) intensity, (2) frequency, (3) emergence of behaviour, (4) changes over time, (5) day-to-day fluctuations, (6) purpose/adaptive benefit, (7) experiences of distress, (8) challenges for the individual, their family, and their socialisation, and (9) management strategies and their effectiveness. Autistic children and adolescents were reported to vary greatly on each of these dimensions. Findings demonstrate the complexity of IS and CI presentations and highlight the need for more comprehensive quantitative assessments that independently assess the frequency, intensity, and impact of behaviours. Further, findings reported here emphasize the need for ecologically valid measures that assess the contexts in which these behaviours occur and how their presentations can change within and across days., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Objective: PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurological and neuropsychiatric challenges during childhood, including autism spectrum disorder (ASD). However, the frequency and nature of seizures and the utilization of allied health services have not been described., Methods: Young patients with PHTS and sibling controls were recruited across five centers in the United States and followed every 6-12 months for a mean of 2.1 years. In addition to the history obtained from caregivers, neurodevelopmental evaluations and structured dysmorphology examinations were conducted, and brain MRI findings, received therapies, and epilepsy characteristics were reported., Results: One hundred and seven patients with PHTS (median age 8.7 years; range 3-21 years) and 38 controls were enrolled. ASD and epilepsy were frequent among patients with PHTS (51% and 15%, respectively), with generalized epilepsy strongly associated with ASD. Patients with epilepsy often required two antiseizure medications. Neuroimaging revealed prominent perivascular spaces and decreased peritrigonal myelination in individuals with PHTS-ASD. Allied therapy use was frequent and involved physical, occupational, speech, and social skills therapies, with 89% of all patients with PHTS, regardless of ASD diagnosis, utilizing at least one service., Interpretation: This prospective, longitudinal study highlights the wide neurological spectrum seen in young individuals with PHTS. ASD is common in PHTS, comorbid with epilepsy, and allied health services are used universally. Our findings inform care discussions with families about neurological outcomes in PHTS., (© 2024 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Insistence on sameness (IS) encompasses a range of behavioral patterns, including resistance to change, routines, and ritualized behaviors, that can be present across social and non-social contexts. Given the breadth of behaviors encompassed by IS, it is important to determine whether this domain is best conceptualized and measured as uni- or a multi-dimensional construct. Therefore, the current study aimed to characterize the structure of IS and explore potentially distinct of patterns of associations between identified IS factors and relevant correlates, including age, sex, IQ, anxiety, social abilities, emotional and behavioral dysregulation, and sensory hypersensitivity. Exploratory graph analysis was conducted using the dimensional assessment of restricted and repetitive behaviors to examine the structure of IS in a sample 1892 autistic youth (M age  = 10.82, SD age  = 4.14; range: 3-18 years; 420 females) recruited from the Simons Foundation Powering Autism Research for Knowledge cohort. Three distinct IS subdomains labeled as IS-Ritualistic/sameness, IS-Routines, and IS-Others (referring to IS behaviors during interactions with others) were identified. Generalized additive models demonstrated that each of the IS subdomains showed a unique pattern of association with key variables. More specifically, while sensory hypersensitivity was significantly associated with IS-Ritualistic/sameness and IS-Routines, it was not associated with IS-Others. Further, while emotional dysregulation was a unique predictor of IS-Ritualistic/sameness (but not IS-Routines or IS-Others), social interaction abilities were a unique predictor of IS-Routines (but not IS-Ritualistic/sameness or IS-Others). Current findings provide preliminary evidence that the IS may encompass several distinct subdomains., (© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

At present, there are no brief, freely-available, informant-report measures that evaluate key challenging behaviors relevant to youth with autism spectrum disorder (ASD) or other developmental disabilities (DD). This paper describes the development, refinement, and initial psychometric evaluation of a new 18-item measure, the Open-Source Challenging Behavior Scale (OS-CBS). In a large sample (n = 2004, 169 with ASD, ages 2-17), results of psychometric analyses indicated a clear factor structure (property destruction, aggression, elopement, conduct problems, and self-injury and a general factor with high loadings from all items) based on exploratory structural equation modeling, good scale reliability (α = .66-.83 for subscales, α = .91 total scale), measurement invariance across demographics, and good construct validity. The OS-CBS is a psychometrically-sound instrument for screening and monitoring intervention progress., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Abnormal eye gaze is a hallmark characteristic of autism spectrum disorder (ASD). The primary aim of the present research was to develop an Arabic version of an objective measure of ASD, the "autism index" (AI), based on eye gaze tracking to social and nonsocial stimuli validated initially in the United States. The initial phase of this study included the translation of English language eye-tracking stimuli into stimuli appropriate for an Arabic-speaking culture. During the second phase, we tested it on a total of 144 children with ASD, and 96 controls. The AI had excellent internal consistency and test-retest reliability. Moreover, the AI showed good differentiation of ASD from control cases (AUC = 0.730, SE = 0.035). The AI was significantly positively correlated with SCQ total raw scores (r = 0.46, p < 0.001). ADOS-2 scores were only available in the ASD group and did not show a significant relationship with AI scores (r = 0.10, p = 0.348), likely due to the restricted range. The AI, when implemented using Arabic-translated stimuli in a Qatari sample, showed good diagnostic differentiation and a strong correlation with parent-reported ASD symptoms. Thus, the AI appears to have cross-cultural validity and may be useful as a diagnostic aide to inform clinical judgment and track ASD symptom levels as part of the evaluation process., (© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

This study focused on the development and initial psychometric evaluation of a set of online, webcam-collected, and artificial intelligence-derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Initial testing and qualitative input was used to develop four stimulus paradigms capturing social and cognitive processes, including social attention, receptive vocabulary, processing speed, and single-word reading. The paradigms were administered to a sample of 375 participants, including 163 with NDGS, 56 with idiopathic neurodevelopmental disability (NDD), and 156 neurotypical controls. Twelve measures were created from the four stimulus paradigms. Valid completion rates varied from 87 to 100% across measures, with lower but adequate completion rates in participants with intellectual disability. Adequate to excellent internal consistency reliability (α = 0.67 to 0.95) was observed across measures. Test-retest reproducibility at 1-month follow-up and stability at 4-month follow-up was fair to good (r = 0.40-0.73) for 8 of the 12 measures. All gaze-based measures showed evidence of convergent and discriminant validity with parent-report measures of other cognitive and behavioral constructs. Comparisons across NDGS groups revealed distinct patterns of social and cognitive functioning, including people with PTEN mutations showing a less impaired overall pattern and people with SYNGAP1 mutations showing more attentional, processing speed, and social processing difficulties relative to people with NFIX mutations. Webcam-collected performance measures appear to be a reliable and potentially useful method for objective characterization and monitoring of social and cognitive processes in NDGS and idiopathic NDD. Additional validation work, including more detailed convergent and discriminant validity analyses and examination of sensitivity to change, is needed to replicate and extend these observations., (© 2023 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)

Aim: To describe the development and initial psychometric evaluation of a new, freely available measure, the Autism Symptom Dimensions Questionnaire (ASDQ)., Method: After development and revision of an initial 33-item version, informants completed a revised 39-item version of the ASDQ on 1467 children and adolescents (aged 2-17 years), including 104 with autism spectrum disorder (ASD)., Results: The initial 33-item version of the ASDQ had good reliability and construct validity. However, only four specific symptom factors were identified, potentially due to an insufficient number of items. Factor analyses of the expanded instrument identified a general ASD factor and nine specific symptom factors with good measurement invariance across demographic groups. Scales showed good-to-excellent overall and conditional reliability. Exploratory analyses of predictive validity for ASD versus neurotypical and other developmental disability diagnoses indicated good accuracy for population and at-risk contexts., Interpretation: The ASDQ is a free and psychometrically sound informant report instrument with good reliability of measurement across a continuous range of scores and preliminary evidence of predictive validity. The measure may be a useful alternative to existing autism symptom measures but further studies with comparison of clinical diagnoses using criterion-standard instruments are needed., What This Paper Adds: The Autism Symptom Dimensions Questionnaire (ASDQ) is a new, freely available measure of autism symptoms. The ASDQ showed reliable and accurate measurement of autism symptoms. The measure had good screening efficiency for autism spectrum disorder relative to other developmental conditions., (© 2023 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

There are few well-validated measures that are appropriate for assessing the full range of neurobehavioral presentations in PTEN hamartoma tumor syndrome (PHTS) and other neurodevelopmental genetic syndromes (NDGS). As potential therapeutics are developed, having reliable, valid, free, and easily accessible measures to track a range of neurobehavioral domains will be crucial for future clinical trials. This study focused on the development and initial psychometric evaluation of a set of freely available informant-report survey scales for PHTS-the Neurobehavioral Evaluation Tool (NET). Concept elicitation, quantitative ratings, and cognitive interviewing processes were conducted with stakeholders and clinician-scientist experts, used to identify the most important neurobehavioral domains for this population, and to ensure items were appropriate for the full range of individuals with PHTS. Results of this process identified a PHTS neurobehavioral impact model with 11 domains. The final NET scales assessing these domains were administered to a sample of 384 participants (median completion time = 20.6 min), including 32 people with PHTS, 141 with other NDGS, 47 with idiopathic neurodevelopmental disorder (NDD), and 164 neurotypical controls. Initial psychometric results for the total scores of each scale indicated very good model (ω = 0.83-0.99) and internal consistency reliability (α = 0.82-0.98) as well as excellent test-retest reproducibility at 1-month follow-up (r = 0.78-0.98) and stability at 4-month follow-up (r = 0.76-0.96). Conditional reliability estimates indicated very strong measurement precision in key score ranges for assessing PHTS and other people with NDGS and/or idiopathic NDD. Comparisons across domains between PHTS and the other groups revealed specific patterns of symptoms and functioning, including lower levels of challenging behavior and more developed daily living and executive functioning skills relative to other NDGS. The NET appears to be a reliable and potentially useful tool for clinical characterization and monitoring of neurobehavioral symptoms in PHTS and may also have utility in the assessment of other NDGS and idiopathic NDD. Additional validation work, including convergent and discriminant validity analyses, are needed to replicate and extend these observations., (© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

An empirically based understanding of the factor structure of the restricted and repetitive behaviors (RRB) domain is a prerequisite for interpreting studies attempting to understand the correlates and mechanisms underpinning RRB and for measurement development. Therefore, this study aimed to conduct a systematic review and meta-analysis of RRB factor analytic studies. Sets of meta-analyses were performed to examine (a) the factor structure of individual RRB instruments, (b) associations between RRB subdomains across instruments, and (c) the association between RRB factors and other variables. Searches for peer-reviewed articles evaluating the factor structure of the RRB domain were performed in PsycINFO (Ovid), Medline (Ovid), and Embase (Ovid). No age, measurement, or informant-type limits were imposed. Quality and risk of bias for individual studies were assessed using relevant COSMIN sections. Among the 53 studies retained for review, 41 examined RRB factor structures among individuals with autism spectrum disorder (ASD) and 12 among non-ASD samples. Meta-analysis of factor correlations provided evidence that the RRB domain encompasses the following eight specific factors: repetitive motor behaviors, insistence on sameness, restricted interests, unusual interests, sensory sensitivity, and repetitive, stereotyped language. Although interrelated, RRB factors were distinct, showing a unique pattern of associations with demographic, cognitive, and clinical correlates. Meta-analyses of the associations between RRB factors and specific correlates, specifically adaptive functioning and communication impairments, should be considered preliminary due to the limited number of studies. Despite limitations, this review provides important insights into the factor structure of the RRB domain and highlights critical conceptual, measurement, and methodological limitations of the current research that will need to be addressed in order to improve our understanding of RRB., Competing Interests: Declaration of Competing Interest The authors declare no conflicts of interest., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Lay Abstract: Autistic people may be at higher risk of suicidal behavior than people in the general population. Suicidal behavior may include thinking about suicide or attempting to end one's own life by suicide. It is important to identify autistic people who may be thinking about suicide. People who are at risk of suicidal behavior can be identified by asking questions about whether they have been thinking about suicide. A specially designed questionnaire, or screening instrument, can help someone ask the best questions to find out if someone has been thinking about suicide. This information can help to identify supports to be put in place to prevent suicidal behavior, such as a suicide attempt. However, autistic people may interpret questions differently than non-autistic people. It is important to use screening tools that have been designed with, and for autistic people. In this study, we examined the Suicidal Ideation Attributes Scale (SIDAS). The SIDAS is an existing tool that was developed to screen for suicidal thinking in the general population. We modified SIDAS for use with autistic adults. We involved autistic people in the process of modifying SIDAS. We called the modified instrument the SIDAS-M. The results of our study showed SIDAS-M may be useful for screening for suicidal thinking in autistic adults who do not have an intellectual disability.

Objective: This study aimed to provide initial validation of the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure designed to capture the full range of key restricted and repetitive behaviors (RRB) subdomains., Method: Parents of 1,892 children and adolescents with autism spectrum disorder (mean [SD] age = 10.81 [4.14] years) recruited from the SPARK (Simons Foundation Powering Autism Research for Knowledge) research match completed the DARB, several existing RRB instruments, and measures of social and communication impairments and anxiety. A subsample of 450 parents completed the DARB after 2 weeks to evaluate the test-retest stability., Results: Exploratory graph analysis conducted in the exploratory subsample identified 8 dimensions that were aligned with hypothesized RRB subdomains: repetitive sensory motor behaviors, insistence on sameness, restricted interests, unusual interests, sensory sensitivity, self-injurious behaviors, obsessions and compulsive behaviors, and repetitive language. The confirmatory application of the exploratory structural equation modeling conducted in the confirmatory subsample showed that the derived factor structure had a good fit to the data. Derived factors had excellent reliability, convergent and divergent validity, and very strong test-retest stability and showed a distinct pattern of associations with key demographic, cognitive and clinical correlates., Conclusion: The DARB will be useful in a variety of research and clinical contexts considering the prominence and clinical impact of RRB in autism spectrum disorder. Strong preliminary evidence indicates that the new scale is comprehensive and captures a wide range of distinct RRB subdomains not simultaneously captured by any of the existing instruments., (Copyright © 2023. Published by Elsevier Inc.)

Background: A key question for any psychopathological diagnosis is whether the condition is continuous or discontinuous with typical variation. The primary objective of this study was to use a multi-method approach to examine the broad latent categorical versus dimensional structure of autism spectrum disorder (ASD)., Method: Data were aggregated across seven independent samples of participants with ASD, other neurodevelopmental disorders (NDD), and non-ASD/NDD controls (aggregate N s = 512-16,755; ages 1.5-22). Scores from four distinct phenotype measures formed composite "indicators" of the latent ASD construct. The primary indicator set included eye gaze metrics from seven distinct social stimulus paradigms. Logistic regressions were used to combine gaze metrics within/across paradigms, and derived predicted probabilities served as indicator values. Secondary indicator sets were constructed from clinical observation and parent-report measures of ASD symptoms. Indicator sets were submitted to taxometric- and latent class analyses., Results: Across all indicator sets and analytic methods, there was strong support for categorical structure corresponding closely to ASD diagnosis. Consistent with notions of substantial phenotypic heterogeneity, the ASD category had a wide range of symptom severity. Despite the examination of a large sample with a wide range of IQs in both genders, males and children with lower IQ were over-represented in the ASD category, similar to observations in diagnosed cases., Conclusions: Our findings provide strong support for categorical structure corresponding closely to ASD diagnosis. The present results bolster the use of well-diagnosed and representative ASD groups within etiologic and clinical research, motivating the ongoing search for major drivers of the ASD phenotype. Despite the categorical structure of ASD, quantitative symptom measurements appear more useful for examining relationships with other factors., Competing Interests: T.W.F. has received funding or research support from, acted as a consultant to, received travel support from, and/or received a speaker's honorarium from Quadrant Biosciences, Impel NeuroPharma, F. Hoffmann‐La Roche AG Pharmaceuticals, the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol‐Myers Squibb, Roche Pharma, National Institutes of Health, and the Brain and Behavior Research Foundation and has an investor stake in Autism EYES LLC. EAY has consulted with Lundbeck, Supernus, Pearson, and Western Psychological Services about psychological assessment, and received royalties from Guilford Press and the American Psychological Association. He is co‐founder and president of Helping Give Away Psychological Science (HGAPS.org). The remaining authors have declared that they have no competing or potential conflicts of interest., (© 2023 The Authors. JCPP Advances published by John Wiley & Sons Ltd on behalf of Association for Child and Adolescent Mental Health.)

Circumscribed interests (CI) encompass a range of different interests and related behaviors that can be characterized by either a high intensity but otherwise usual topic [referred to as restricted interests (RI)] or by a focus on topics that are not salient outside of autism [referred to as unusual interests (UI)]. Previous research has suggested that there is pronounced variability across individuals in terms of the endorsement of different interests, however, this variability has not been quantified using formal subtyping approaches. Therefore, using Latent Profile Analysis in a sample of 1,892 autistic youth (M age = 10.82, SD age = 4.14; 420 females), this study aimed to identify subgroups based on the RU and UI profiles. Three profiles of autistic individuals were identified. They were characterized as Low CI, Predominantly RI, and Predominantly UI. Importantly, profiles differed on several key demographic and clinical variables, including age, sex composition, IQ, language level, social and communication abilities, anxiety, and obsessive-compulsive behaviors. Although replication across other samples is needed, the profiles identified in this study are potentially promising for future research given their distinct profiles of RI and UI and unique patterns of associations with key cognitive and clinical variables. Therefore, this study represents an important initial step towards more individualized assessment and support for diverse presentations of CI in autistic youth., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Spackman, Smillie, Frazier, Hardan, Alvares, Whitehouse and Uljarević.)

A broad range of interests characterized by unusual content and/or intensity, labeled as circumscribed interests (CI), are a core diagnostic feature of autism. Recent evidence suggests that a distinction can be drawn between interests that, although characterized by unusually high intensity and/or inflexibility, are otherwise common in terms of their content (e.g., an interest in movies or animals), labeled as restricted interests (RI), and interests that are generally not salient outside of autism (e.g., an interest in traffic lights or categorization), labeled as unusual interests (UI). The current study aimed to further characterize RI and UI by exploring their association with age, sex, IQ, and social motivation, as well as to examine differences in the adaptive benefits and negative impacts of these two subdomains. Parents of 1892 autistic children and adolescents (M age  = 10.82, SD age  = 4.14; 420 females) completed an online survey including the Dimensional Assessment of Restricted and Repetitive Behaviors and the Social Communication Questionnaire. Both RI and UI were found to be highly frequent. Sex-based differences were observed in the content, but not intensity, of CI such that females were more likely to show interests with a social component. Finally, RI and UI showed distinct patterns of association with age, sex, IQ, and social motivation, as well as metrics of adaptive benefits and negative impacts. Findings afford a more nuanced understanding of sex-based differences in CI and, crucially, provide preliminary evidence that RI and UI represent distinct constructs that should be studied independently in future research., (© 2022 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Autistic individuals and individuals with a range of other neurodevelopmental conditions (NDD) often present with lower levels of daily living skills (DLS) when compared to their neurotypical peers. Importantly, lower levels of DLS have been linked to a range of negative outcomes, including lower rates of post-secondary education, lower employment rates, and higher daily support needs across autism and NDD. However, there are currently no open-source informant-reported instruments for capturing key aspects of DLS. This study describes the development, refinement, and initial psychometric evaluation of a new, relatively brief (53-item). Daily Living Skills Scale (DLSS) in a sample of 1,361 children aged 2-17 years, Confirmatory Factor Analysis demonstrated an excellent fit of unidimensional model to the data (CFI = 0.953, TLI = 0.951, RMSEA = 0.073 [95% CI: 0.071-0.074]). The single-factor CFA model showed evidence of measurement invariance of factor loadings, thresholds, and residual variance (strict invariance) across sex, age, race, and ethnicity. Model reliability and internal consistency were excellent (ω = 0.98; α = 0.97). Conditional reliability estimates indicated very good reliability (= 0.80) for the total DLS scale from very low (θ = -4.2) to high (θ = +2.4) scores. Conceptually derived self-care, homecare, and community participation subscales also showed strong reliability and internal consistency. With further replication, the EFS has excellent potential for wide adoption across research and clinical contexts., Competing Interests: MU has equity options and an advisory role in Quadrant Biosciences and has an investor stake in iSCAN-R. AH has equity options and an advisory role in Quadrant Biosciences, has an investor stake in iSCAN-R and is a consultant/advisor for Jazz Pharmaceuticals, Beaming Health, and IAMA Therapeutics. TF is employed by and has equity options in Quadrant Biosciences/Autism Analytica, has equity options in MaraBio and SpringTide, and has an investor stake in Autism EYES LLC and iSCAN-R. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Uljarević, Spackman, Cai, Paszek, Hardan and Frazier.)

Executive functioning (EF) processes are essential for adaptive and flexible responding to the demands and complexities of everyday life. Conversely, if impaired, these processes are a key transdiagnostic risk factor that cuts across autism and a range of other neurodevelopmental (NDD) and neuropsychiatric (NPD) conditions. However, there are currently no freely available informant-report measures that comprehensively characterize non-affective (e.g., working memory, response inhibition, and set shifting) and affective (e.g., emotion regulation) EF subdomains. This study describes the development, refinement, and initial psychometric evaluation of a new 52-item Executive Functioning Scale (EFS). Two independent data collections yielded exploratory ( n = 2004, 169 with autism, ages 2-17) and confirmatory ( n = 954, 74 with autism, ages 2-17) samples. Exploratory Structural Equation Modeling (ESEM) model with six specific factors that closely matched hypothesized executive functioning subdomains of working memory and sequencing, response inhibition, set-shifting, processing speed, emotion regulation, and risk avoidance, and one general factor, showed the best fit to the data and invariance across age, sex, race, and ethnicity groups. Model reliability and internal consistency were excellent for the general factor (ω = 0.98; α = 0.97) and specific factors (ω ≥ 0.89-0.96; α ≥ 0.84-0.94). Conditional reliability estimates indicated excellent reliability (≥0.90) for the total EF scale and adequate or better reliability (≥0.70) for subscale scores. With further replication, the EFS has excellent potential for wide adoption across research and clinical contexts., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Uljarević, Cai, Hardan and Frazier.)

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic., Competing Interests: Declaration of interests E. Anagnostou has received consultation fees from Roche, Quadrant, and Oron; grant funding from Roche; in-kind supports from AMO Pharma and CRR; editorial honoraria from Wiley; and book royalties from APPI and Springer. She co-holds a patent for the device Anxiety Meter (patent # US20160000365A1). S.W.S. is on the Scientific Advisory Committee of Population Bio and serves as a Highly Cited Academic Advisor for King Abdulaziz University, and intellectual property from aspects of his research held at The Hospital for Sick Children are licensed to Athena Diagnostics and Population Bio. These relationships did not influence data interpretation or presentation during this study but are disclosed for potential future considerations., (Copyright © 2022 Elsevier Inc. All rights reserved.)

The present study sought to clarify the impact of executive and social functioning on challenging behavior and the downstream influence of challenging behavior on quality of life and functioning in a large transdiagnostic sample. Understanding these relationships is crucial for developing and designing tailored intervention strategies. In a cross-sectional study, parent informants of 2,004 children completed measures of executive and social functioning, challenging behavior, child and family quality of life, and reported on functional impacts of challenging behavior. Using structural (path) modeling, analyses evaluated the associations between executive and social functioning, including emotion regulation and risk avoidance, with overall and specific types of challenging behavior. Structural models also examined the influence of challenging behavior on child and family quality of life, including measures of the immediate and extended environment, and functional impacts on the parent/child as well as interactions with the medical/legal systems. Finally, mediational models explored the direct and indirect effects of executive and social functioning on quality of life and impact measures via challenging behavior. Results indicated that executive functioning accounts for substantial variance ( R 2  = 0.47) in challenging behavior. In turn, challenging behavior accounts for substantial variance in child and family quality of life ( R 2  = 0.36) and parent/child impacts ( R 2  = 0.31). Exploratory mediational models identified direct effects from executive and social functioning measures on quality of life and functional impacts and indirect effects for executive functioning via challenging behavior. These findings support the development of new intervention strategies and suggest the need to measure executive functioning when assessing and tailoring the treatment of challenging behavior in clinical practice., Competing Interests: Beyond the scope of this research, TF has received funding or research support from, acted as a consultant to, received travel support from, and/or received a speaker’s honorarium from the PTEN Research Foundation, SYNGAP Research Fund, Malan Syndrome Foundation, ADNP Kids Research Foundation, Quadrant Biosciences, Autism Speaks, Impel NeuroPharma, F. Hoffmann-La Roche AG Pharmaceuticals, the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol-Myers Squibb, Roche Pharma, MaraBio, National Institutes of Health, and the Brain and Behavior Research Foundation and has an investor stake in Autism EYES LLC and iSCAN-R. EC received research support funding from Autism Speaks. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Frazier, Crowley, Shih, Vasudevan, Karpur, Uljarevic and Cai.)

The present study aimed to examine anxiety profiles among children and adolescents on the autism spectrum. It further aimed to characterize the association between the identified anxiety profiles and key clinical and developmental variables. The Spence Children's Anxiety Scale-Parent Version (SCAS-P) data from a large international pooled sample of 870 caregivers of autistic children and adolescents (M age  = 11.6 years, SD age  = 2.77; 107 females) was used. Latent profile analysis identified a three-anxiety profile solution exhibiting high entropy (0.80) and high latent profile probabilities, with good classification accuracy. Identified profiles fell along the severity spectrum and were named as the mild (n = 498), moderate (n = 272) and severe (n = 100) anxiety profiles. There were no statistically significant differences between the three anxiety profiles in terms of sex distribution. Participants in the mild profile were significantly younger than those in the severe profile, had significantly fewer social communication difficulties than youth in the moderate anxiety profile group and had significantly fewer restricted and repetitive behaviors and lower cognitive functioning scores compared to participants in moderate and severe anxiety profiles. This is the first study to move beyond identifying associations and group-level differences to exploring and identifying characteristics of anxiety-based subgroups at an individual level that differ on key clinical and developmental variables. The subgroups identified in this study are a preliminary, yet important, first step towards informing future assessment and individualized interventions aiming to support young people on the autism spectrum to reduce and manage anxiety. LAY SUMMARY: This study tried to understand if there are subgroups of autistic young people who may have similar anxiety profiles. We found that we could meaningfully group young people into three groups based on how severe the anxiety symptoms their caregivers reported were: a group with low levels of anxiety, those with moderate anxiety, and those with more severe anxiety. We also found that the young people in the mild group were younger, had fewer autism traits and lower levels of intellectual functioning than young people in the other two groups., (© 2022 International Society for Autism Research and Wiley Periodicals LLC.)

Lay Abstract: Early intervention for individuals with autism spectrum disorder (ASD) is dependent on reliable methods for early detection. Screening for ASD symptoms is an important strategy in low- and middle-income countries that often lack adequate service infrastructure. This study aims to conduct preliminary evaluation of the psychometric properties of a tool developed and deployed in Nigeria called the Nigerian Autism Screening Questionnaire (NASQ). Results demonstrated that NASQ, when used as a community-based survey, has a clear factor structure with consistent measurement across age and sex, and that scores from below average to well above average are measured reliably. Future research is needed to examine the performance of this tool against confirmatory ASD diagnosis in screening and diagnostic contexts to further understand the utility and applicability of this tool in the resource-limited Nigerian setting.

Background: Before the COVID-19 pandemic, households of children on the autism spectrum were more likely to be food insecure than households of children without disabilities. With the unprecedented social, public health, and economic disruption caused by the pandemic, food insecurity has likely increased among families of children on the autism spectrum., Objective: This analysis aims to compare the prevalence of food insecurity between the Autism Speaks' Food Insecurity Survey (ASFIS) administered during the Fall of 2020 and a nationally representative sample from the Household Pulse Survey (HPS) data collected during a similar timeframe., Methods: A propensity score analysis was utilized to create stabilized inverse probability treatment weights for adjusting background differences between the two groups. A logistic regression model was computed to estimate the odds of food insecurity in the ASFIS participants compared with those in the HPS data., Results: After adjusting for background differences, households of children on the autism spectrum in the ASFIS were about four times more likely to be food insecure than households in the general population contained in the HPS data (OR = 3.7; 95% CI: 3.1-4.4)., Conclusions: The breakdown of social and economic supports during the COVID-19 pandemic contributed to a significantly higher likelihood of food insecurity among families of children on the autism spectrum., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Lay Abstract: Despite being highly prevalent among people with autism, restricted and unusual interests remain under-researched and poorly understood. This article confirms that restricted interests are very frequent and varied among children and adolescents with autism. It also further extends current knowledge in this area by characterizing the relationship between the presence, number, and type of restricted interests with chronological age, sex, cognitive functioning, and social and communication symptoms.

Most individuals with autism spectrum disorder (ASD)-a complex, life-long developmental disorder-do not have access to the care required to address their diverse health needs. Here, we review: (1) common barriers to healthcare access (shortage/cost of services; physician awareness; stigma); (2) barriers encountered primarily during childhood (limited screening/diagnosis; unclear referral pathways), transition to adulthood (insufficient healthcare transition services; suboptimal physician awareness of healthcare needs) and adulthood (shortage of services/limited insurance; communication difficulties with physicians; limited awareness of healthcare needs of aging adults); and (3) advances in research/program development for better healthcare access. A robust understanding of barriers to accessing healthcare across the lifespan of autistic individuals is critical to ensuring the best use of healthcare resources to improve social, physical, and mental health outcomes. Stakeholders must strengthen healthcare service provision by coming together to: better understand healthcare needs of underserved populations; strengthen medical training on care of autistic individuals; increase public awareness of ASD; promote research into/uptake of tools for ASD screening, diagnosis, and treatment; understand specific healthcare needs of autistic individuals in lower resource countries; and conduct longitudinal studies to understand the lifetime health, social, and economic impacts of ASD and enable the evaluation of novel approaches to increasing healthcare access. IMPACT: Despite the growing body of evidence, our understanding of barriers to healthcare encountered by individuals with ASD remains limited, particularly beyond childhood and in lower resource countries. We describe current and emerging barriers to healthcare access encountered by individuals with ASD across the lifespan. We recommend that stakeholders develop evidence-informed policies, programs, and technologies that address barriers to healthcare access for individuals with ASD and consider broad, equitable implementation to maximize impact., (© 2021. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)

PTEN hamartoma tumor syndrome (PHTS), caused by germline PTEN mutations, has been associated with organ-specific cancers and autism spectrum disorder (ASD) and/or developmental delay (DD). Predicting precise clinical phenotypes in any one PHTS individual remains impossible. We conducted an untargeted metabolomics study on an age- and sex-matched series of PHTS individuals with ASD/DD, cancer, or both phenotypes. Using agnostic metabolomic-analyses from patient-derived lymphoblastoid cells and their spent media, we found 52 differentially abundant individual metabolites, 69 cell/media metabolite ratios, and 327 pair-wise metabotype (shared metabolic phenotype) ratios clearly distinguishing PHTS individuals based on phenotype. Network analysis based on significant metabolites pointed to hubs converging on PTEN-related insulin, MAPK, AMPK, and mTOR signaling cascades. Internal cross-validation of significant metabolites showed optimal overall accuracy in distinguishing PHTS individuals with ASD/DD versus those with cancer. Such metabolomic markers may enable more accurate risk predictions and prevention in individual PHTS patients at highest risk., (© 2022. The Author(s).)

Objective: Despite being a core diagnostic feature of autism spectrum disorder (ASD), demographic, developmental and clinical correlates of restricted and repetitive behaviors and interests (RRB) remain poorly characterized. This study aimed to utilize the largest available RRB data set to date to provide a comprehensive characterization of how distinct RRB domains vary according to a range of individual characteristics., Method: Data were obtained from 17,581 children and adolescents with ASD (mean age = 8.24 years, SD age = 4.06) from the Simons Foundation Powering Autism Research for Knowledge cohort. Caregivers completed the Repetitive Behavior Scale-Revised questionnaire as a measure of repetitive motor behaviors, self-injurious behaviors, compulsions, insistence on sameness, and circumscribed interests RRB domains. Caregivers also provided information on children's cognitive functioning, language ability, and social and communication impairments., Results: Male sex was associated with higher severity of repetitive motor behaviors and restricted interests and with lower severity of compulsions and self-injurious behaviors; no sex differences were found for the insistence on sameness domain. Although repetitive motor behaviors showed a mostly linear (negative) association with age, other RRB domains showed more complex and nonlinear pattern of associations. Higher severity of social and communication impairments provided significant independent contribution in predicting higher severity of all RRB domains at the p < .001 level; however, these effects were small (d < 0.25). The strongest of these effects was observed for insistence on sameness (d = 0.24), followed by repetitive motor behaviors (d = 0.21), compulsions (d = 0.17), restricted interests (d = 0.14), and self-injurious behaviors (d = 0.12)., Conclusion: Findings reported here provide further evidence that RRB subdomains show a somewhat distinct pattern of associations with demographic, developmental, and clinical variables, with a key implication that separate consideration of these domains can help to facilitate efforts to understand diverse ASD etiology and to inform the design of effective interventions., (Copyright © 2021. Published by Elsevier Inc.)

This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M age  = 8.93 years, SD age  = 4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M age  = 8.94 years; SD age  = 4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M age  = 11.99 years; SD age  = 5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t = 4.12, p < 0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature.)

The present study examined language trajectories and placement outcomes for children with autism spectrum disorder (ASD) receiving early intensive behavioral intervention (EIBI). Language measures were collected at baseline and 6, 12, 18, 24, and 36 months or until exit from EIBI in 131 children with ASD. Growth models estimated overall and subgroup language trajectories. Overall, children receiving EIBI showed substantial increases in language relative to normative expectations. Earlier age at EIBI start, higher baseline cognitive function, and lower baseline ASD severity predicted better language trajectories. Although there was significant variability in language trajectories and educational outcomes, most children showed significant increases in language scores, relative to normative expectations. Additional research, in more representative samples, is needed to understand this variability., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature.)

Lay Abstract: Families of children with autism spectrum disorder are more likely to experience financial strain and resulting food insecurity due to additional cost of care, disparate access to needed services, and loss of income resulting from parental job loss. Utilizing nationally representative data, this analysis indicates that the families of children with autism spectrum disorder and co-occurring intellectual disabilities are twice as likely to experience food insecurity than families of children without disabilities after adjusting for various factors. Several factors, ranging from state-level policies such as Medicaid expansion to individual-level factors such as higher utilization of emergency room services, were associated with the higher prevalence of food insecurity in families of children with autism spectrum disorder and co-occurring intellectual disabilities. Implications of these findings on programs and policies supporting families in the COVID-19 pandemic are discussed.

This study aimed to further our understanding of restricted and repetitive behaviors (RRB) among individuals with germline pathogenic mutations in PTEN by providing multimethod characterization and comparison of key RRB subdomains across individuals with PTEN mutations with autism spectrum disorder (ASD) (PTEN-ASD), with PTEN mutations without ASD (PTEN-No ASD) and with ASD and macrocephaly but without PTEN mutations (Macro-ASD). Of 86 total research participants, 38 had PTEN-ASD (M age  = 8.93 years, SD age  = 4.75), 25 Macro-ASD (M age  = 11.99 years; SD age  = 5.15), and 23 PTEN-No ASD (M age  = 8.94 years; SD age  = 4.85). The Repetitive Behavior Scale-Revised (RBS-R) and the Autism Diagnostic Interview-Revised (ADI-R) were used as measures of distinct RRB domains. There were significant group differences in the RBS-R repetitive motor behaviors (RMB; F = 4.52, p = 0.014, ω 2  = 0.08), insistence on sameness (IS; F = 4.11, p = 0.02, ω 2  = 0.05), and circumscribed interests (CI; F = 7.80, p = 0.001, ω 2  = 0.14) scales. Post hoc comparisons showed that the PTEN-No ASD group had significantly lower RMB, IS, and CI scores compared to both PTEN-ASD and Macro-ASD groups. Importantly, PTEN-No ASD group still showed elevated RRB levels. Furthermore, there was a portion of individuals in PTEN-No ASD group whose Full-Scale Intelligence Quotient (FSIQ) was >70 that did not show floor level scores in the RMB domain. After adjusting for age and FSIQ scores, group differences were no longer statistically significant. RMB, IS, and CI domains showed distinct association patterns with sex, age, and FSIQ. This investigation provides the largest and most comprehensive characterization of distinct RRB domains in individuals with PTEN mutations to date. Despite the limitations, our findings have important assessment and treatment implications., (© 2021 Wiley Periodicals LLC.)

The primary objectives of this study were to evaluate the structure and age-related stability of social attention in English and Arabic-speaking youth and to compare social attention between children with autism spectrum disorder (ASD), other developmental disabilities (DD), and typically-developing controls. Eye-tracking data were collected from US (N = 270) and Qatari (N = 242) youth ages 1-17, including children evaluated for possible ASD. Participants viewed 44 stimuli from seven social paradigms. Fixation was computed for areas of interest within each stimulus. Latent variable models examined the structure of social attention. Generalized estimating equation models examined the effect of age, sex, culture, and diagnostic group on social attention. The best-fitting model included a general social attention factor and six specific factors. Cultural differences in social attention were minimal and social attention was stable across age (r = 0.03), but females showed significantly greater social attention than males (d = 0.28). Social attention was weaker in DD (d = -0.17) and lowest in ASD (d = -0.38) relative to controls. Differences were of sufficient magnitude across areas-of-interest to reliably differentiate DD from controls (AUC = 0.80) and ASD-only from all other cases (AUC = 0.76). A social attention dimension that represents an early-life preference for socially salient information was identified. This preference was cross-culturally consistent and stable across development but stronger in females and weaker in DD, especially ASD. Given rapid and easy-to-collect remote eye tracking administration, social attention measurement may be useful for developmental monitoring. Acquisition of population norms, analogous to height/weight/head circumference, might enhance early screening and tracking of neurodevelopment. LAY SUMMARY: This research found that social attention is a single dimension of behavior that represents a strong preference for social stimuli, is consistent across cultures, stable across age, and stronger in females. Children with developmental disabilities had lower levels of social attention than neurotypical children and children with autism spectrum disorder had the lowest levels of social attention., (© 2021 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Research Domain Criteria (RDoC) has posited a set of social dimensions that could be useful in identifying sources of individual variation in social impairments across neurodevelopmental disorders. The current investigation aimed to derive estimates of the RDoC social constructs from the Social Communication Questionnaire (SCQ) and examine whether RDoC social processes, as captured by the SCQ, are best represented by a dimensional, categorical, or hybrid model. Individual SCQ items from 4 databases were combined resulting in a total of 26,407 individuals ( M age  = 8.13 years, SD age  = 4.19; 69.1% male). The sample consisted of 60.0% of individuals with autism spectrum disorder (ASD), 6.8% with a range of neurodevelopmental disorders and 33.2% of siblings of individuals with ASD. Comparison of a range of factor solutions through the use of exploratory structural equation modeling and confirmatory factor analysis indicated that a 3-factor structure with separate attachment and affiliation, production of nonfacial and facial communication factors provided excellent fit to the data (comparative fit index = .989, Tucker-Lewis index = .984, root mean square error of approximation = .045). and robustness across clinical groups, age, sex, and verbal status. Comparison between the best-fitting factor analysis, latent class analysis, and factor mixture analysis solutions demonstrated that the RDoC social processes domain is best represented as dimensional. Our findings show promise for capturing some of the important RDoC social constructs using the SCQ but also highlight crucial areas for the development of new, dedicated dimensional measures.

Objective : To evaluate short forms of free self-report mania and depression scales, evaluating their reliability, content coverage, criterion validity, and diagnostic accuracy. Method : Youths age 11 to 18 years seeking outpatient mental health services at either an Academic medical clinic ( N = 427) or urban Community mental health center ( N = 313), completed the General Behavior Inventory (GBI) and other rating scales. Youths and caregivers completed semi-structured interviews to establish diagnoses and mood symptom severity, with GBI scores masked during diagnosis. Ten- and seven-item short forms, psychometric projections, and observed performance were tested first in the Academic sample and then externally cross-validated in the Community sample. Results : All short forms maintained high reliability (all alphas >.80 across both samples), high correlations with the full-length scales ( r .85 to.96), excellent convergent and discriminant validity with mood, behavior, and demographic criteria, and diagnostic accuracy undiminished compared to using the full-length scales. Ten-item scales showed advantages in terms of coverage; the 7 Up showed slightly weaker performance. Conclusions : Present analyses evaluated and externally cross-validated short forms that maintain high reliability and content coverage, and show strong criterion validity and diagnostic accuracy - even when used in an independent sample with very different demographics and referral patterns. The short forms appear useful in clinical applications including initial evaluation, as well as in research settings where they offer an inexpensive quantitative score. Short forms are available in more than two dozen languages. Future work should further evaluate sensitivity to treatment effects and cultural invariance.

Germline heterozygous PTEN mutations have been associated with high prevalence of autism spectrum disorder (ASD) and elevated rates and severity of broadly defined behavioral problems. However, limited progress has been made toward understanding whether PTEN mutation is associated with specific psychiatric co-morbidity profiles when compared to idiopathic ASD. The current study aimed to utilize a cross-measure approach to compare concurrent psychiatric characteristics across children and adolescents with PTEN mutation with ( PTEN -ASD; n = 38) and without ASD ( PTEN -No ASD; n = 23), and ASD with macrocephaly but no PTEN mutation (macro-ASD; n = 25) using the Child Behavior Checklist (CBCL) and the Aberrant Behavior Checklist (ABC). There were significant group effects for the CBCL Internalizing and Externalizing broad symptom score, the majority of specific CBCL syndrome scores, and all ABC subscale scores. Post-hoc comparisons revealed greater behavioral symptoms in the ASD groups ( PTEN -ASD and macro-ASD) compared to the PTEN -no ASD group on nearly all subtest scores examined. There were no statistically significant differences between the PTEN -ASD and macro-ASD groups; however, there was a trend for the macro-ASD group showing higher levels of aggressive behaviors. Our findings provide evidence of specific behavior profiles across PTEN -No ASD, PTEN -ASD, and macro-ASD groups and highlight the importance of early identification of behavioral vulnerabilities in individuals with PTEN mutations in order to provide access to appropriate evidence-based interventions., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Steele, Uljarević, Rached, Frazier, Phillips, Libove, Busch, Klaas, Martinez-Agosto, Srivastava, Eng, Sahin and Hardan.)

Emotion regulation is theorized to be a transdiagnostic process and has been empirically shown to be associated with various mental health and neurodevelopmental conditions. However, the relationship between emotion regulation and internalizing and externalizing symptoms has yet to be characterized in a sample of individuals spanning normative and atypical development. Therefore, this study aimed to provide initial evidence for emotion regulation as a transdiagnostic process of internalizing and externalizing symptoms in a community sample of adolescents with and without neuropsychiatric and neurodevelopmental conditions. The sample consisted of 1,705 caregivers of adolescents aged between 11 and 17 years ( M age = 14.53, SD age = 1.96). Adolescents were typically developing or had a caregiver-reported diagnosis of autism spectrum disorder, attention-deficit hyperactivity disorder, or anxiety. The typically developing adolescents had significantly better caregiver-reported emotion regulation than adolescents with caregiver-reported neuropsychiatric and neurodevelopmental conditions. Additionally, emotion dysregulation significantly and positively correlated with and predicted internalizing and externalizing symptoms within each subgroup. Importantly, emotion dysregulation had a unique contribution to individual differences in the severity of internalizing and externalizing symptoms, above and beyond the diagnostic status. The research and translational implications of the study findings are discussed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Cai, Hardan, Phillips, Frazier and Uljarević.)