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Introduction: DYRK1A , a protein kinase located on human chromosome 21, plays a role in postembryonic neuronal development and degeneration. Alterations to DYRK1A have been consistently associated with cognitive functioning and neurodevelopmental disorders (e.g., autism, intellectual disability). However, the broader cognitive and behavioral phenotype of DYRK1A syndrome requires further characterization. Specifically, executive functioning, or cognitive processes that are necessary for goal-directed behavior, has not yet been characterized in this population., Methods: Individuals with DYRK1A variants ( n  = 29; ages 4 to 21 years) were assessed with a standardized protocol with multiple measures of executive functioning: Delis-Kaplan Executive Function Schedule, and chronologically age-appropriate caregiver-report forms of the Behavior Rating Inventory of Executive Function (BRIEF) and Achenbach System of Empirically Based Assessment (ASEBA). We first examined the feasibility and appropriateness of established executive functioning measures among participants with DYRK1A syndrome to inform selection of executive functioning tools in future research. We then characterized executive functioning among the group, including associations with other phenotypic features., Results: Neurocognitive assessments of executive functioning were deemed infeasible due to cognitive and verbal functioning. Caregiver-report revealed elevated executive functioning concerns related to self-monitoring, working memory, and planning/organization on the BRIEF, and attention and ADHD on the CBCL. Only two participants had existing ADHD diagnoses; however, 5 participants (out of 10 participants with data) exceeded the cutoff on the BRIEF, 13 individuals (out of 27 with data) exceeded the cutoff on the ASEBA ADHD subscale, and 18 exceeded the cutoff on the ASEBA attention subscale. There was concordance between ADHD diagnosis and the ASEBA, but not BRIEF. Executive functioning was correlated with nonverbal IQ and autism traits., Discussion: Objective measures of executive functioning are needed for individuals with intellectual disability who are nonverbal and/or have motor limitations. Diagnostic overshadowing, or the tendency to attribute all problems to intellectual disability and to leave other co-existing conditions, such as executive functioning challenges or ADHD, undiagnosed, is common. Phenotypic characterization of executive functioning is therefore important for our understanding of DYRK1A syndrome and for ensuring that caregivers' concerns are addressed, and individuals receive the clinical services that best meet their needs., 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 © 2025 Rea, Webb, Kurtz-Nelson, Hudac, Bernier, Miles, Earl, Whiting, Eayrs, Johansson, Wang, Eichler and Neuhaus.)

Alpha-band (~10 Hz) neural oscillations, crucial for gating sensory information, may offer insights into the atypical sensory experiences characteristic of autism spectrum disorder (ASD). We investigated alpha-band EEG activity in autistic adults (n = 29) compared with a nonautistic group (n = 23) under various stimulus-driven and resting-state conditions. The autistic group showed consistently higher alpha amplitude across all time points. In addition, there was proportionally more suppression of alpha at stimulus onset in the autistic group, and alpha amplitude in this stimulus-onset period correlated with sensory behaviors. Recent research suggests a link between subcortical structures' volume and cortical alpha magnitude. Prompted by this, we explored the association between alpha power and the volume of subcortical structures and total cortical volume in ASD. Our findings indicate a significant correlation with total cortical volume and a group by hippocampal volume interaction, pointing to the potential role of anatomical structural characteristics as potential modulators of cortical alpha oscillations in ASD. Overall, the results highlight altered alpha in autistic individuals as potentially contributing to the heightened sensory symptoms in autistic compared with nonautistic adults., (© 2024 International Society for Autism Research and Wiley Periodicals LLC.)

In several ways, 2018 represents a global pivot point in research and care related to the intersection of gender diversity and autism, reflected by the increase in the number of studies on the intersection and broadening of topics. We conducted a scoping review of the literature published between September 2018 and January 2024 to summarize recent research in the field. We compared and contrasted research trends post September 2018 to research that was summarized in previous scoping reviews (Nordahl-Hansen et al. in J Autism Develop Disord 49:1745-1748, 2019; Øien et al. J Autism Develop Disord 48(12):4028-4037, 2018. https://doi.org/10.1007/s10803-018-3843-z ). We also summarized systematic reviews and meta-analyses published after 2018. Compared to previous reviews, we included more comprehensive search terms to focus on gender diversity broadly, rather than just gender dysphoria or gender identity disorder, and we included more detailed coding categories to uniquely identify shifts and continuities in research priorities over time. A total of 99 empirical research studies were published after August 2018 (the end of the search in the previous review) and through January 2024 on autism, gender diversity, and related topics were reviewed. There has been growth in the quantity and quality of studies on the intersection of autism and gender diversity, although methodological improvements are still needed and described in the current review. Future research should include more collaborations with stakeholders to set research priorities that are reflective of the communities being described., Competing Interests: Declarations. Conflict of interest: Hannah M. Rea, Roald A. Øien, Sara Jane Webb, John Strang, Shivam Bansal, and Anders Nordahl-Hansen report no affiliations with or involvement in any organization or entity with any financial interest in the outcome of this project., (© 2024. The Author(s).)

Individuals diagnosed with autism often display alterations in visual spatial attention toward visual stimuli, but the underlying cause of these differences remains unclear. Recent evidence has demonstrated that covert spatial attention, rather than remaining constant at a cued location, samples stimuli rhythmically at a frequency of 4-8 Hz (theta). Here we tested whether rhythmic sampling of attention is altered in autism. Participants were asked to monitor three locations to detect a brief target presented 300-1200 ms after a spatial cue. Visual attention was oriented to the cue and modified visual processing at the cued location, consistent with previous studies. We measured detection performance at different cue-target intervals when the target occurred at the cued location. Significant oscillations in detection performance were identified using both a traditional time-shuffled approach and a new autoregressive surrogate method developed by Brookshire in 2022. We found that attention enhances behavioral performance rhythmically at the same frequency in both autism and control group at the cued location. However, rhythmic temporal structure was not observed in a subgroup of autistic individuals with co-occurring attention-deficit/hyperactivity disorder (ADHD). Our results imply that intrinsic brain rhythms which organize neural activity into alternating attentional states is functional in autistic individuals, but may be altered in autistic participants who have a concurrent ADHD diagnosis., (© 2023 International Society for Autism Research and Wiley Periodicals LLC.)

Autistic and comparison individuals differ in resting-state electroencephalography (EEG), such that sex and age explain variability within and between groups. Pubertal maturation and timing may further explain variation, as previous work has suggested alterations in pubertal timing in autistic youth. In a sample from two studies of 181 autistic and 94 comparison youth (8 years to 17 years and 11 months), mixed-effects linear regressions were conducted to assess differences in EEG (midline power for theta, alpha, and beta frequency bands). Alpha power was analyzed as a mediator in the relation between pubertal maturation and timing with autistic traits in the autistic groups to understand the role of puberty in brain-based changes that contribute to functional outcomes. Individuals advanced in puberty exhibited decreased power in all bands. Those who experienced puberty relatively early showed decreased power in theta and beta bands, controlling for age, sex, and diagnosis. Autistic individuals further along in pubertal development exhibited lower social skills. Alpha mediated the relation between puberty and repetitive behaviors. Pubertal maturation and timing appear to play unique roles in the development of cognitive processes for autistic and comparison youth and should be considered in research on developmental variation in resting-state EEG., (© 2023 Wiley Periodicals LLC.)

Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n = 29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n = 14) or average or above nonverbal IQ (n = 41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians' behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits., (© 2023 International Society for Autism Research and Wiley Periodicals LLC.)

The sex difference in the prevalence of autism spectrum disorder (ASD) may be magnified by sex differences on diagnostic measures. The current study compared autistic males and females on items on the gold-standard diagnostic measure, the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). In a sample of 8-to-17-year old autistic individuals from research (n = 229) and clinical settings (n = 238), females were less likely to show atypicalities on most items related to social-communication behaviors and on total and subscale scores. When controlling for overall intensity of symptomatology, no sex differences survived statistical corrections. Diagnostic criteria and/or gold-standard assessments may be less sensitive to female presentations of ASD and/or autistic females may exhibit fewer or less intense behaviors characteristic of ASD., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Social impairments characteristic of autism spectrum disorder (ASD) are evident in early childhood and often worsen. There is a paucity of evidence-based interventions explicitly targeting social skill development for young children with ASD and few actively integrate caregivers. The PEERS® program, an evidence-based caregiver-assisted social skills program, was extended for young children with ASD (i.e., PEERS® for Preschoolers (P4P)). This pilot study expands upon initial results by examining the feasibility of a briefer intervention period and the effectiveness in improving child social skills among 15 children with ASD. Results suggest P4P recruitment, participant retention, and implementation are feasible across clinicians and sites. Further, P4P appears to improve social skills, maintained post-intervention. Future research might examine mechanisms that lead to results., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Social impairments characteristic of autism spectrum disorder (ASD) are evident in early childhood and worsen as the child matures. Though many interventions for young children exist, few specifically target social skills and involve caregivers., Aims: This pilot study examined PEERS® for Preschoolers, focusing on temporal change in child social skills, caregiver style, and family functioning in the context of a caregiver-assisted social skills intervention. This extension of the PEERS® program builds on the success of the intervention for older children, presenting skills in a developmentally appropriate manner to young autistic children and their caregivers., Methods and Procedures: The present pilot study used a non-concurrent multiple baseline design to examine the above variables with 15 autistic children (Mage = 4.87, SD = 1.25; 11 boys). Children and caregivers participated in PEERS® for Preschoolers groups, with each group randomly assigned three different baseline periods (1.5, 2, or 2.5 weeks) before beginning., Outcomes and Results: Simulation Modeling Analysis (SMA) revealed concurrent improvements in social and caregiving skills, with subsequent changes in family functioning occurring over the course of this 16-session intervention., Conclusions and Implications: Future research will need to examine mechanisms of change in PEERS® for Preschoolers for children and caregivers., What This Paper Adds: There is a dearth of research that specifically examines social skills interventions for young autistic children that incorporates caregivers and examines family functioning as well. This paper is one of the first to evaluate the PEERS® for Preschoolers (P4P) intervention by: 1) exploring changes in child social skills, caregiver efficacy, and family functioning, and 2) analyzing the sequence of improvements in the aforementioned variables to measure systematic change. This pilot study presents results using appropriate methodology for a small sample size of children and caregivers. Results suggested concurrent improvements in social and caregiving skills and subsequent changes in family functioning. These can be built upon for further research on the PEERS® for Preschoolers intervention. This study supports PEERS® for Preschoolers as a feasible intervention that likely contributes to improvements for the child, caregiver in their relationship with their child and parenting styles in general, as well as functioning of the entire family. In sum, this work is essential to furthering the provision of a much needed service of social skills interventions for young autistic children., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Delivery of interventions in a group format is a potential solution to limited access to specialized services for children with autism spectrum disorder (ASD). We conducted an open feasibility trial of group-based RUBI parent training in 18 children (mean age 6.12 ± 1.95 years) with ASD and disruptive behaviors. Parents participated in one of five groups (3 to 4 parents per group). Eighty-three percent of participants completed the 24-week trial. Session attendance was moderate (74.2%). All parents indicated that they would recommend the treatment. Therapists demonstrated 98.8% fidelity to the manual. Eleven of 18 (64.7%) participants were rated as much/very much improved by an independent evaluator at Week 24. Preliminary efficacy findings justify further study.

The Five Minute Speech Sample's (FMSS) measure of parental expressed emotion (EE), defined as criticism (CRIT) and emotional overinvolvement (EOI), has been increasingly used to measure family emotional climate in relation to youth psychopathological development. As CRIT and EOI were defined based on adults, a meta-analysis and systematic review was conducted to analyze the presence and strength of an effect among maternal CRIT and EOI with youth internalizing and externalizing problems. A random effects model was used to analyze the 42 studies on families of youth (aged 1.5 to 19). There was a small, significant relation among maternal CRIT with youth internalizing and externalizing problems and among EOI with youth internalizing problems. EOI was not significantly related to externalizing problems. The current study suggests that the FMSS measure of CRIT is a more robust correlate of youth internalizing and externalizing symptoms than EOI, but EOI does relate to internalizing behaviors. Few moderators emerged, highlighting a continued need to identify factors accounting for heterogeneity. The current results suggest that the FMSS measure of CRIT may be a valuable measure of the family emotional climate in families of youth, but care should be taken when including analyses on EOI.

A number of intervention models aimed at addressing Autism Spectrum Disorder (ASD)-related behaviors require caregivers to perform intensive and oftentimes extended protocols (Bearss et al. in Clin Child Fam Psychol Rev 18(2):170-182, 2015). Though a number of research findings describe how characteristics of the child with ASD affect the mental health and stress experienced by caregivers and family members (Davis and Carter in J Autism Dev Disord 38(7):1278-1291, 2008; Tomanik et al. in J Intellect Dev Disabil 29(1):16-26, 2004), few studies investigate effects on overall family functioning and relationships among other family members. This review aimed to examine caregiver-delivered interventions as they relate to ASD, the impact of these caregiver-administered interventions on the family unit and family relationships, and potential future targets of treatments and treatment structures that include family members. The results of the review illustrate the nature of caregiver-administered interventions, which largely benefit family functioning and relationships.

Broader autism phenotype (BAP) characteristics (pragmatic language deficits, aloofness, and rigidity) are prevalent in families of individuals with autism spectrum disorder (ASD) and may influence emotion-related behaviors. The current study analyzed associations among BAP characteristics with emotion-related behaviors in mothers of children with and without ASD. Twenty-seven mothers completed BAP and emotion regulation (ER) questionnaires. Maternal affect was coded during an interaction task. BAP rigidity negatively correlated with the ER strategy reappraisal. BAP total and pragmatic scores positively correlated with observed negative affect. Associations remained significant in step-wise regressions that controlled for other BAPQ subscale scores. Findings suggest that pragmatic difficulties may interfere with positive mother-child interactions and mothers with high rigidity may benefit from learning adaptive ER strategies.

1. Erythrocyte, plasma and whole blood selenium concentrations and glutathione peroxidase (EC 1.11.1.9; GSHPx) activities were measured (1) in 104 healthy New Zealand residents living in Otago, a low-soil-Se area (2) in sixty-four surgical patients, including nineteen patients on total parenteral nutrition and twenty-three cancer patients (3) in fifty-two 'overseas subjects' (twenty-five visitors to Otago from outside New Zealand and twenty-seven Otago residents on return from overseas travel). 2. Blood Se concentrations reflected dietary Se intake; means for Otago patients, healthy subjects and overseas subjects were different 0.043, 0.059, 0.136 micrograms Se/ml blood respectively) and mean for overseas residents was greater than for New Zealand overseas travellers. 3. Erythrocyte Se concentration was always greater than plasma Se, and plasma Se was a smaller proportion of erythrocyte Se for patients compared with the controls. 4. GSHPx activities were different in the three groups, and varied directly with erythrocyte Se until a plateau was reached at approximately 0.14 micrograms Se/ml erythrocytes. 5. Overseas subjects showed no relationship between erythrocyte Se and GSHPx activity. This agrees with some overseas studies and the significance of this finding is discussed. 6. Plasma Se concentration remained the most sensitivie index of short-term changes in Se status, and erythrocyte Se and GSHPx activities for long-term changes in New Zealand subjects. Use of these measurements for overseas subjects with higher blood levels is discussed.

1. A relationship was found between selenium concentrations and glutathione peroxidase (EC 1.11.1.9) activities in whole blood of 264 New Zealand residents (r 0-71, P less than 0-001). 2. New Zealand residents returning from visits overseas of 7 months to 3 years had elevated blood Se, but normal GSH-Px activities, whereas for some new settlers in New Zealand both Se and GSH-Px activities were high.

The alleged beneficial effect of selenium (Se) on fibromuscular rheumatism in residents of low soil-Se areas of New Zealand has been explored. Three dosing trials, two of them double blind trials, using physiological daily supplements (100 micrograms Se) of sodium selenite or selenomethionine and a placebo have been carried out. Blood Se and glutathione peroxidase (EC 1.11.1.9; GSHPX) activities were monitored and clinical assessment of the efficacy of the treatment was made during the trials. Blood Se and GSHPX activities rose in all patients who received Se whereas those in control groups remained more or less constant throughout the study. Clinical assessment of muscular symptoms showed that approximately half of the patients in both trial groups and placebo groups responded to treatment. Thus we have been unable to give conclusive evidence of a response to Se supplementation for relief of muscular complaints.

1. The daily intake of selenium by three subjects was supplemented with 100 microgram Se as selenomethionine (Semet-Se) or sodium selenite (selenite-Se)/d for 10-11 weeks, or with 65 microgram Se as in mackerel (Scomber japonicus) (fish-Se)/d for 4 weeks. 2. Urinary and faecal excretion of Se was measured and also Se concentration in whole blood, plasma and erythrocytes. Measurements on blood were made at intervals after supplementation had ceased. 3. Selenite-Se was not as well absorbed (0.46 of the intake) during the first 4 weeks as Semet-Se (0.75 of the intake) and fish Se (0.66 of the intake). 4. Blood Se increased steadily with Semet-Se, from 0.08 to 0.18 microgram Se/ml, but more slowly with selenite-Se, reaching a plateau in 7-8 weeks at 0.11 microgram Se/ml. Plasma Se increased more rapidly with Semet-Se than with selenite-Se, so that initially with Semet-Se plasma Se was greater than erythrocyte Se. 5. Daily urinary excretion increased with all forms of supplement, with initially a greater proportion of absorbed selenite-Se being excreted than Semet-Se or fish-Se. A close relationship was found between plasma Se and 24 h urinary excretion. The findings suggested that there was a rapid initial excretion of presumably unbound Se then a slower excretion of residual unbound, loosely bound or bound Se. 6. Total retentions of 3.5 mg selenite-Se and 4.5 mg Semet-Se were large when compared with an estimate of body content of 6 mg Se, derived in another paper (Stewart, Griffiths, Thomson & Robinson, 1978). Retention of Semet-Se and fish-Se appeared to be reflected in blood Se, whereas for selenite-Se, blood Se reflected retention for only a short period after which Se appeared to be retained without altering the blood Se. This suggested that Semet-Se and selenite-Se were metabolized differently. 7. A double blind-dosing trail with 100 microgram Semet-Se was carried out for 12 weeks on twenty-four patients with muscular complaints in Tapanui, a low-Se-soil area. Blood Se increased in the experimental group (from 0.067 to 0.143 microgrm Se/ml); clinical findings were not conclusive and will be presented elsewhere. 8. Bood Se was measured in New Zealand residents before travelling to Europe or to North America. On return their blood Se was increased, and depending upon the period of time spent outside New Zealand some values reached concentrations found in visitors and new settlers to New Zealand. 9. The results from these studies and the earlier studies of single and multiple dosing have been used to look at the various criteria in use for assessing Se status of subjects. It is suggested that plasma Se be used in preference to 24 h urinary excretion, and in addition to whole blood Se and glutathione peroxidase (EC 1.11.1.9) activity.