1. Erratum: Distinct patterns of cognitive outcome in young children with autism spectrum disorder receiving the Early Start Denver Model. Frontiers in psychiatry. 2023; 14: 1182124.

[This corrects the article DOI: 10.3389/fpsyt.2022.835580.].

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2. Erratum: Perception, beliefs, and causal attribution of autism early signs in Ecuadorian general population. Frontiers in psychology. 2023; 14: 1182237.

[This corrects the article DOI: 10.3389/fpsyg.2022.915817.].

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3. Alaghband-Rad J, Hajikarim-Hamedani A, Motamed M. Camouflage and masking behavior in adult autism. Frontiers in psychiatry. 2023; 14: 1108110.

INTRODUCTION: Autism spectrum disorder (ASD) is characterized by persistent deficits in social communication and social interaction across multiple contexts. Social camouflaging was first shown to be a characteristic of autistic persons, who actively try to disguise and compensate for their autism features in social contexts in an effort to socially blend in better. Recently, an increasing, though still insufficient, number of studies has been conducted on the concept of camouflage; however, different aspect of it, from psychopathology and etiology to its complications and consequences, are not clearly defined. We aimed to systematically review the existing literature on camouflage in autistic adults to describe the correlates of camouflage, motivations for exhibiting camouflage behavior, and the potential impacts of camouflage on the mental health of autistic individuals. METHODS: We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist guidelines to conduct a systematic review. The databases of PubMed and Scopus, and PsycInfo were searched for eligible studies. Studies were published between January 1st, 1980, to April 1st, 2022. RESULTS: We included 16 articles, of which four studies were qualitative and 11 were quantitative. One study used a mix method. The assessment tools used for camouflage, the correlates of camouflage including autism severity, gender, age, cognitive profile and neuroanatomical correlates, reasons for camouflage and the impacts of camouflaging behavior on mental health are discussed in this review. DISCUSSION: In synthesizing the literature, we conclude that camouflage seems to be more common among females who report more autistic symptoms themselves. There may also be some differences between men and women in reasons of exhibiting it and its neuroanatomical correlates. Further research is needed as to why this phenomenon is more prevalent in females with implications for gender related cognitive and neuroanatomical differences. Effects of camouflage on mental health and daily life measures of individuals such as employment, university graduation, relationship, financial status, and quality of life should be studied with more details in future studies.

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4. Allen D. Casting His First Ballot: Voting Experience of a Young Adult With Autism. Pediatrics. 2023; 151(Suppl 1).

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5. Balboni G, Widaman KF, Esposito G. Enhancing research practice in developmental disabilities. Research in developmental disabilities. 2023; 137: 104499.

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6. Bazelmans T, Jones EJH, Ghods S, Corrigan S, Toth K, Charman T, Webb SJ. Identifying phenotypic and physiological subgroups of preschoolers with autism spectrum disorder. Psychological medicine. 2023; 53(4): 1592-602.

BACKGROUND: To understand the emergence of symptoms in autism spectrum disorder (ASD), we need to identify the mechanisms that underpin the development of core social skills. Mounting evidence indicates that young children with later ASD attend less to other people, which could compromise learning opportunities with cascading effects. Passive looking behaviour does not tell us about engagement with visual information, but measures of physiological arousal can provide information on the depth of engagement. In the current study, we use heart rate (HR) and heart rate variability (HRV) to measure engagement with social dynamic stimuli in ASD. METHODS: Sixty-seven preschoolers with ASD and 65 typical developing preschoolers between 2 and 4 years of age participated in a study where HR was measured during viewing of social and non-social videos. Using latent profile analyses, more homogeneous subgroups of children were created based on phenotype and physiology. RESULTS: Preschool-aged children with ASD, regardless of their non-verbal, verbal and social competencies, do not differ in overall HR or HRV compared to TD children. However, the ASD group showed a larger increase in HR (more disengagement) than the TD group to later-presented social stimuli. Phenotypic and physiological profiles showed this was primarily the case for children with below average verbal and non-verbal skills, but not necessarily those with more ASD symptoms. CONCLUSION: Children with ASD, especially a subgroup showing moderate cognitive delays, show an increase in HR to social stimuli over time; this may reflect difficulties re-engaging with social information when attention is waning.

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7. Bellinger DC. Lithium in Drinking Water-A Novel Environmental Risk Factor for Autism Spectrum Disorder?. JAMA pediatrics. 2023.

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8. Bonino AY, Mood D. Identifying reduced hearing in children who have developmental disabilities: Insights for inclusive research practices with electronic health records. Frontiers in psychology. 2023; 14: 1134034.

INTRODUCTION: Recent advancements in big data analytics and the formation of large-scale clinical data repositories provide a unique opportunity to determine the current state of pediatric hearing health care for children who have developmental disabilities. Before answering unresolved questions about diagnostic practice, it is paramount to determine a standard and reliable method for identifying children who have reduced hearing because clinical management is affected by hearing status. The purpose of this study was to compare 5 different methods for identifying cases of reduced hearing from pure-tone thresholds based on developmental disability status. METHODS: Using retrospective clinical data from 100,960 children (0-18 years), hearing status was determined for a total of 226,580 encounters from three clinical sites. 9% of the children had a diagnosis of intellectual disability, autism spectrum disorder, Down syndrome, or cerebral palsy. RESULTS: Results revealed that encounters from children who have developmental disabilities were more likely to have insufficient data to allow hearing status to be determined. Moreover, methods with higher data demands (i.e., number of thresholds and ear-specific thresholds) resulted in fewer classifiable encounters. The average child age when hearing status was classified for the first time was older for children who have developmental disabilities than for children in the comparison group. Allowing thresholds to build up over multiple test sessions did result in more children who have developmental disabilities being classified than for single-encounter methods, but a meaningful decrease in child age at the time of classification was not seen for this strategy. Compared to the comparison group, children who have developmental disabilities were more likely to have reduced hearing that was stable over time, yet their hearing status was determined at older ages. DISCUSSION: Results provide key guidance to researchers for how to determine hearing status in children for big data applications using electronic health records. Furthermore, several assessment disparities are spotlighted for children who have developmental disabilities that warrant further investigation.

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9. Bryan J, Rabinowitz C, Edwards L, Jacob R. Primary Care of Adults with Intellectual and Developmental Disabilities Clinic: Coordination of Care Challenges. Southern medical journal. 2023; 116(4): 355-7.

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10. Cheng Y, Tekola B, Balasubramanian A, Crane L, Leadbitter K. Neurodiversity and community-led rights-based movements: Barriers and opportunities for global research partnerships. Autism : the international journal of research and practice. 2023; 27(3): 573-7.

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11. Clay CJ, Schmitz BA, Hogg AD, Keicher ES, Clohisy AM, Kahng S. Advancing Methods in Animal-Assisted Intervention: Demonstration of Starting Points in Clinical Practice for Children with Autism Spectrum Disorder. Behavior analysis in practice. 2023; 16(1): 145-55.

Therapy animals have been frequently included in interventions for children with autism spectrum disorder (ASD); however, direct and systematic procedures such as assessing preference for and reinforcing efficacy of the animals are rarely conducted. Assessing preference for stimuli is valuable when determining how to make interventions for children with ASD most effective. We conducted paired-stimulus preference assessments and follow-up reinforcer assessments to determine if a therapy dog might be an effective reinforcer. We found one third of participants preferred the dog the least, one third of participants moderately preferred the dog, and one third of participants highly preferred the dog relative to other stimuli. Furthermore, we found preference predicted reinforcing efficacy for five of six participants. We suggest clinicians systematically conduct assessments to clearly identify the role of the therapy animal, to improve quality of, and demonstrate efficacy of interventions including animals for clinical populations.

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12. Cotter M, Reisli S, Francisco AA, Wakim KM, Oakes L, Crosse MJ, Foxe JJ, Molholm S. Neurophysiological measures of auditory sensory processing are associated with adaptive behavior in children with Autism Spectrum Disorder. Journal of neurodevelopmental disorders. 2023; 15(1): 11.

BACKGROUND: Atypical auditory cortical processing is consistently found in scalp electrophysiological and magnetoencephalographic studies of Autism Spectrum Disorder (ASD), and may provide a marker of neuropathological brain development. However, the relationship between atypical cortical processing of auditory information and adaptive behavior in ASD is not yet well understood. METHODS: We sought to test the hypothesis that early (100-175 ms) auditory processing in ASD is related to everyday adaptive behavior through the examination of auditory event-related potentials (AEPs) in response to simple tones and Vineland Adaptive Behavior Scales in a large cohort of children with ASD (N = 84), aged 6-17, and in age- and IQ- matched neurotypically (NT) developing controls (N = 132). RESULTS: Statistical analyses revealed significant group differences in early AEPs over temporal scalp regions (150-175 ms), and the expected rightward lateralization of the AEP (100-125 ms and 150-175 ms) to tonal stimuli in both groups. Lateralization of the AEP (150-175 ms) was significantly associated with adaptive functioning in the socialization domain. CONCLUSIONS: These results lend support to the hypothesis that atypical processing of sensory information is related to everyday adaptive behavior in autism.

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13. Duville MM, Corona-González CE, Romo De León R, Rodríguez Vera A, Flores-Jimenez MS, Ibarra-Zarate DI, Alonso-Valerdi LM. Perception of task-irrelevant affective prosody by typically developed and diagnosed children with Autism Spectrum Disorder under attentional loads: electroencephalographic and behavioural data. Data in brief. 2023; 48: 109057.

The relevance of affective information triggers cognitive prioritisation, dictated by both the attentional load of the relevant task, and socio-emotional abilities. This dataset provides electroencephalographic (EEG) signals related to implicit emotional speech perception under low, intermediate, and high attentional demands. Demographic and behavioural data are also provided. Specific social-emotional reciprocity and verbal communication characterise Autism Spectrum Disorder (ASD) and may influence the processing of affective prosodies. Therefore, 62 children and their parents or legal guardians participated in data collection, including 31 children with high autistic traits (x̄(age)=9.6-year-old, σ(age)=1.5) who previously received a diagnosis of ASD by a medical specialist, and 31 typically developed children (x̄(age)=10.2-year-old, σ(age)=1.2). Assessments of the scope of autistic behaviours using the Autism Spectrum Rating Scales (ASRS, parent report) are provided for every child. During the experiment, children listened to task-irrelevant affective prosodies (anger, disgust, fear, happiness, neutral and sadness) while answering three visual tasks: neutral image viewing (low attentional load), one-target 4-disc Multiple Object Tracking (MOT; intermediate), one-target 8-disc MOT (high). The EEG data recorded during all three tasks and the tracking capacity (behavioural data) from MOT conditions are included in the dataset. Particularly, the tracking capacity was computed as a standardised index of attentional abilities during MOT, corrected for guessing. Beforehand, children answered the Edinburgh Handedness Inventory, and resting-state EEG activity of children was recorded for 2 minutes with eyes open. Those data are also provided. The present dataset can be used to investigate the electrophysiological correlates of implicit emotion and speech perceptions and their interaction with attentional load and autistic traits. Besides, resting-state EEG data may be used to characterise inter-individual heterogeneity at rest and, in turn, associate it with attentional capacities during MOT and with autistic behavioural patterns. Finally, tracking capacity may be useful to explore dynamic and selective attentional mechanisms under emotional constraints.

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14. El-Boghdedy A, Sidener TM, Reeve SA, White ER, Quiroz L. Maintaining On-Task Behavior of Adolescents with Autism Spectrum Disorder in the Absence of an Instructor. Behavior analysis in practice. 2023; 16(1): 210-21.

Despite the vast amount of research on increasing independence for individuals with autism spectrum disorder, there is a lack of research on techniques for fostering independent on-task behavior and accuracy in the absence of an instructor. Though increasing distance of the instructor and altering reinforcer delivery have been shown in a few studies to produce independence in the absence of an instructor, no study to date has compared the effects of systematic fading and complete removal of an instructor. In the current study, we evaluated the effects of three conditions on the on-task behavior and accuracy of adolescents with autism spectrum disorder: instructor present (instructor with participant and conditioned reinforcers delivered within session ), instructor absent (instructor not with the participant and no within-session conditioned reinforcers), and instructor fading (gradual, systematic fading of instructor and thinning of within-session conditioned reinforcers). Across all three participants, the intervention was effective in maintaining criterion levels of on-task behavior and accuracy. Responding generalized to novel instructors and remained high during maintenance evaluations for all participants. Clinicians rated the procedures as having high social validity.

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15. Feng P, Zhao S, Zhang Y, Li E. A review of probiotics in the treatment of autism spectrum disorders: Perspectives from the gut-brain axis. Frontiers in microbiology. 2023; 14: 1123462.

Autism spectrum disorders (ASD) are a class of neurodevelopmental conditions with a large societal impact. Despite existing evidence suggesting a link between ASD pathogenesis and gut-brain axis dysregulation, there is no systematic review of the treatment of probiotics on ASD and its associated gastrointestinal abnormalities based on the gut-brain axis. Therefore, we performed an analysis for ASD based on preclinical and clinical research to give a comprehensive synthesis of published evidence of a potential mechanism for ASD. On the one hand, this review aims to elucidate the link between gastrointestinal abnormalities and ASD. Accordingly, we discuss gut microbiota dysbiosis regarding gut-brain axis dysfunction. On the other hand, this review suggests that probiotic administration to regulate the gut-brain axis might improve gastrointestinal symptoms, restore ASD-related behavioral symptoms, restore gut microbiota composition, reduce inflammation, and restore intestinal barrier function in human and animal models. This review suggests that targeting the microbiota through agents such as probiotics may represent an approach for treating subsets of individuals with ASD.

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16. Ghirardi L, Kuja-Halkola R, Pettersson E, Sariaslan A, Arseneault L, Fazel S, D’Onofrio BM, Lichtenstein P, Larsson H. Neurodevelopmental disorders and subsequent risk of violent victimization: exploring sex differences and mechanisms. Psychological medicine. 2023; 53(4): 1510-7.

BACKGROUND: Neurodevelopmental disorders (NDs) are associated with experiences of victimization, but mechanisms remain unclear. We explored sex differences and the role of familial factors and externalizing problems in the association between several NDs and violent victimization in adolescence and young adulthood. METHODS: Individuals born in Sweden 1985-1997, residing in Sweden at their 15th birthday, were followed until date of violent victimization causing a hospital visit or death, death due to other causes, emigration, or December 31, 2013, whichever came first. The exposures were diagnoses of attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), intellectual disability (ID) and other NDs. We used three different Cox regression models: a crude model, a model adjusted for familial confounding using sibling-comparisons, and a model additionally adjusted for externalizing problems. RESULTS: Among 1 344 944 individuals followed, on average, for 5 years, 74 487 were diagnosed with NDs and 37 765 had a hospital visit or died due to violence. ADHD was associated with an increased risk of violent victimization in males [hazard ratio (HR) 2.56; 95% confidence interval (CI) 2.43-2.70) and females (HR 5.39; 95% CI 4.97-5.85). ASD and ID were associated with an increased risk of violent victimization in females only. After adjusting for familial factors and externalizing problems, only ADHD was associated with violent victimization among males (HR 1.27; 95% CI 1.06-1.51) and females (HR 1.69; 95% CI 1.21-2.36). CONCLUSIONS: Females with NDs and males with ADHD are at greater risk of being victim of severe violence during adolescence and young adulthood. Relevant mechanisms include shared familial liability and externalizing problems. ADHD may be independently associated with violent victimization.

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17. Han C, Guo M, Ke X, Zeng L, Li M, Haihambo N, Lu J, Wang L, Wei P. Oscillatory biomarkers of autism: evidence from the innate visual fear evoking paradigm. Cognitive neurodynamics. 2023; 17(2): 459-66.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with multiple associated deficits in both social and cognitive functioning. Diagnosing ASD usually relies on subjective clinical competencies, and research on objective criteria for diagnosing ASD in the early stage is still in its infancy. A recent animal study showed that the looming-evoked defensive response was impaired in mice with ASD, but whether the effect will be observed in human and contribute to finding a robust clinical neural biomarker remain unclear. Here, to investigate the looming-evoked defense response in humans, electroencephalogram responses toward looming and corresponding control stimuli (far and missing type) were recorded in children with ASD and typical developed (TD) children. Results revealed that alpha-band activity in the posterior brain region was strongly suppressed after looming stimuli in the TD group, but remained unchanged in the ASD group. This method could be a novel, objective way to detect ASD earlier. These findings suggest that further investigation of the neural mechanism underlying innate fear from the oscillatory view could be a helpful direction in the future. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s11571-022-09839-6.

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18. Harris E. Inflammation Genes Show Age-Dependent Link With Autism. Jama. 2023; 329(13): 1054.

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19. Heidari A, Motamed M, Rahimi Forushani A, Alaghband-Rad J. The Association Between Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Symptoms in Medical Students. The Journal of nervous and mental disease. 2023.

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are the two most prevalent neurodevelopmental disorders affecting communication and behavior. The co-occurrence of these conditions is probable and can contribute to several challenges in adaptive functioning and academic achievement.In this cross-sectional study, 168 Iranian medical students (107 female, 61 male) studying at Tehran University of Medical Sciences in 2021 were enrolled. We administered the Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R) and Adult ADHD Self-Report Scale (ASRS) questionnaires online to assess different symptoms of ASD and ADHD in our sample. In this study, the RAADS-R was translated into Persian and validated for the first time in Iran.The correlation tests demonstrated a significant association between the total score and different subscales’ scores of the RAADS-R and the total score and the two subscales’ scores of the ASRS questionnaire (p < 0.001, 0.27 < Spearman correlation coefficient < 0.51). This study also illustrated a high prevalence of ASD and ADHD symptoms among the participants. Moreover, male respondents had a significantly higher prevalence of ASD symptoms (57.3% in males vs. 28.03% in females, p < 0.001).This study indicated that the distinct impairments in behavior and cognition attributed to ASD and ADHD could be common manifestations in medical students. Given that the co-occurrence of these disorders may lead to significant challenges in their professional life, the early diagnosis and subsequent support for medical students with co-occurring expressions of ASD and ADHD could be extremely helpful, as it could indirectly improve the medical services provided to patients by future physicians, leading to an improvement in public health.

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20. Houck EJ, Dracobly JD. Trauma-Informed Care for Individuals with Intellectual and Developmental Disabilities: From Disparity to Policies for Effective Action. Perspectives on behavior science. 2023; 46(1): 67-87.

People with intellectual disabilities (ID) are an often overlooked minority population. They experience significant health disparities and a high risk of exposure to traumatic events that can lead to stress-related disorders. Access to effective treatments for stress-related disorders is limited for people with ID due to a lack of appropriate assessments and common communication deficits. We discuss and analyze four factors that have led to these disparities: (1) historical segregation; (2) society’s response to identification of trauma in vulnerable populations; (3) lack of accessible assessments and treatments for stress disorders in people with ID; and (4) communication deficits common in people with ID. Based on this analysis, we suggest behavior analysts advocate for policy development that would (1) increase acknowledgement of trauma in people with ID and mandate sharing of information about trauma across providers; (2) require observable and measurable goals be included in the assessment and treatment of trauma-related behavior change; and (3) increase funding for services and research in this area.

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21. Hsieh MY, Tuan LH, Chang HC, Wang YC, Chen CH, Shy HT, Lee LJ, Gau SS. Altered synaptic protein expression, aberrant spine morphology, and impaired spatial memory in Dlgap2 mutant mice, a genetic model of autism spectrum disorder. Cerebral cortex (New York, NY : 1991). 2023; 33(8): 4779-93.

A microdeletion of approximately 2.4 Mb at the 8p23 terminal region has been identified in a Taiwanese autistic boy. Among the products transcribed/translated from genes mapped in this region, the reduction of DLGAP2, a postsynaptic scaffold protein, might be involved in the pathogenesis of autism spectrum disorder (ASD). DLGAP2 protein was detected in the hippocampus yet abolished in homozygous Dlgap2 knockout (Dlgap2 KO) mice. In this study, we characterized the hippocampal phenotypes in Dlgap2 mutant mice. Dlgap2 KO mice exhibited impaired spatial memory, indicating poor hippocampal function in the absence of DLGAP2. Aberrant expressions of postsynaptic proteins, including PSD95, SHANK3, HOMER1, GluN2A, GluR2, mGluR1, mGluR5, βCAMKII, ERK1/2, ARC, BDNF, were noticed in Dlgap2 mutant mice. Further, the spine density was increased in Dlgap2 KO mice, while the ratio of mushroom-type spines was decreased. We also observed a thinner postsynaptic density thickness in Dlgap2 KO mice at the ultrastructural level. These structural changes found in the hippocampus of Dlgap2 KO mice might be linked to impaired hippocampus-related cognitive functions such as spatial memory. Mice with Dlgap2 deficiency, showing signs of intellectual disability, a common co-occurring condition in patients with ASD, could be a promising animal model which may advance our understanding of ASD.

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22. Hu C, Wang Y, Li C, Mei L, Zhou B, Li D, Li H, Xu Q, Xu X. Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study. Frontiers in genetics. 2023; 14: 1083779.

Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with genetic and clinical heterogeneity. Owing to the advancement of sequencing technologies, an increasing number of ASD-related genes have been reported. We designed a targeted sequencing panel (TSP) for ASD based on next-generation sequencing (NGS) to provide clinical strategies for genetic testing of ASD and its subgroups. Methods: TSP comprised 568 ASD-related genes and analyzed both single nucleotide variations (SNVs) and copy number variations (CNVs). The Autism Diagnostic Observation Schedule (ADOS) and the Griffiths Mental Development Scales (GMDS) were performed with the consent of ASD parents. Additional medical information of the selected cases was recorded. Results: A total of 160 ASD children were enrolled in the cohort (male to female ratio 3.6:1). The total detection yield was 51.3% for TSP (82/160), among which SNVs and CNVs accounted for 45.6% (73/160) and 8.1% (13/160), respectively, with 4 children having both SNVs and CNV variants (2.5%). The detection rate of disease-associated variants in females (71.4%) was significantly higher than that in males (45.6%, p = 0.007). Pathogenic and likely pathogenic variants were detected in 16.9% (27/160) of the cases. SHANK3, KMT2A, and DLGAP2 were the most frequent variants among these patients. Eleven children had de novo SNVs, 2 of whom had de novo ASXL3 variants with mild global developmental delay (DD) and minor dysmorphic facial features besides autistic symptoms. Seventy-one children completed both ADOS and GMDS, of whom 51 had DD/intellectual disability (ID). In this subgroup of ASD children with DD/ID, we found that children with genetic abnormalities had lower language competence than those without positive genetic findings (p = 0.028). There was no correlation between the severity of ASD and positive genetic findings. Conclusion: Our study revealed the potential of TSP, with lower cost and more efficient genetic diagnosis. We recommended that ASD children with DD or ID, especially those with lower language competence, undergo genetic testing. More precise clinical phenotypes may help in the decision-making of patients with genetic testing.

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23. James S, Hallur S, Anbar J, Matthews N, Pierce K, Smith CJ. Consistency between parent report and direct assessment of development in toddlers with autism spectrum disorder and other delays: Does sex assigned at birth matter?. Autism research : official journal of the International Society for Autism Research. 2023.

The current study examined differences between parent report and diagnostician direct assessment of receptive language, expressive language, and fine motor abilities in toddlers with autism spectrum disorder (ASD) and other delays. Additionally, this study examined whether parent-diagnostician consistency varied by child diagnosis and sex assigned at birth (SAB). Initial mixed analysis of variances (ANOVAs) were conducted using data from a sample of 646 toddlers to examine whether parent-diagnostician consistency differed by child diagnosis. Matched samples (using child age, SAB, and nonverbal IQ) were then created within each diagnostic group and mixed ANOVAs were conducted to examine if consistency was similar in matched diagnostic subsamples and whether it differed by SAB. Findings from the full sample mostly replicated previous research that has documented consistency between parent report and direct observation regardless of child diagnosis. However, when examined in matched diagnostic subgroups, more nuanced patterns were observed. Parent report of receptive language was lower in ASD and ASD features subgroups and parent report of fine motor skills was lower than direct observation in the ASD, ASD features, and developmental delay groups. When examining the moderating effect of SAB, only expressive language was impacted for children in the ASD group. Results indicate the importance of considering child demographic characteristics and that child SAB may impact parent report and/or diagnostician perception of expressive language.

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24. Kabil SE, Abdelshafy R, Ahmed AIA, Zahran AM, Attalah M, Sallam Y, El Lateef AGA. Mismatch Negativity and Auditory Brain Stem Response in Children with Autism Spectrum Disorders and Language Disorders. Journal of multidisciplinary healthcare. 2023; 16: 811-7.

OBJECTIVE: Language disorders (LD) in autism spectrum disorders (ASD) are highly variable and has a severe impact on the level of functioning in autistic children. Early diagnosis of these language disorders is essential for early interventions for children at risk. The electrophysiological measurements are considered valuable tools for determining language disabilities in children with ASD. This study aimed to study and compare ABR and MMN in autistic children with language disorders. METHODS: This study included a group of typically developing children and a group of children diagnosed with autistic spectrum disorders and language disorders. Both groups were matching according to age and gender. After confirming bilateral normal peripheral hearing sensitivity, ABR was done and both absolute and interpeak wave latencies were correlated. MMN using frequency oddball paradigms were also obtained and correlated. RESULTS: More abnormalities were reported in ABR test results in the form of delayed absolute latencies and prolonged interpeak intervals. Also, we reported prolonged latencies of MMN. Consequently, both ABR and MMN are complementary test in evaluating autistic children with language disorders. CONCLUSION: Our results support the hypothesis of remarkable dysfunction in basic auditory sound processing that may impact the linguistic development of autistic children.

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25. Kang L, Chen J, Huang J, Jiang J. Autism spectrum disorder recognition based on multi-view ensemble learning with multi-site fMRI. Cognitive neurodynamics. 2023; 17(2): 345-55.

Autism spectrum disorders (ASD) is a neurodevelopmental disorder that causes repetitive stereotyped behavior and social difficulties, early diagnosis and intervention are beneficial to improve treatment effect. Although multi-site data expand sample size, they suffer from inter-site heterogeneitys, which degrades the performance of identitying ASD from normal controls (NC). To solve the problem, in this paper a multi-view ensemble learning network based on deep learning is proposed to improve the classification performance with multi-site functional MRI (fMRI). Specifically, the LSTM-Conv model was firstly proposed to obtain dynamic spatiotemporal features of the mean time series of fMRI data; then the low/high-level brain functional connectivity features of the brain functional network were extracted by principal component analysis algorithm and a 3-layer stacked denoising autoencoder; finally, feature selection and ensemble learning were carried out for the above three brain functional features, and a classification accuracy of 72% was obtained on multi-site data of ABIDE dataset. The experimental result illustrates that the proposed method can effectively improve the classification performance of ASD and NC. Compared with single-view learning, multi-view ensemble learning can mine various brain functional features of fMRI data from different perspectives and alleviate the problems caused by data heterogeneity. In addition, this study also employed leave-one-out cross validation to test the single-site data, and the results showed that the proposed method has strong generalization capability, in which the highest classification accuracy of 92.9% was obtained at the CMU site.

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26. Li C, Hu J. Relatively Inefficient Integration of Metaphorical Semantics in Autistic Adults Without Intellectual Impairment. Journal of autism and developmental disorders. 2023.

Individuals diagnosed with autism are often thought to face challenges in comprehensive metaphors, even for the individuals without intellectual impairment. This study is to investigate the features and mechanisms of metaphor integration in the process of metaphor comprehension in real-time and context-free situations in autism, as well as the influence of the mental complexity of metaphor. Twenty autistic adults and twenty typically developing peers carried out a Lexical Decision Task and a Recognition Task. The results of the study showed that, there are deficiencies in real-time metaphor comprehension in autistic adults without intellectual impairment. It may caused by their relatively inefficient integration of metaphor semantics. This mechanism was equally pronounced in the metaphors with different mental complexity.

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27. Liew Z, Meng Q, Yan Q, Schullehner J, Hansen B, Kristiansen SM, Voutchkova DD, Olsen J, Ersbøll AK, Ketzel M, Raaschou-Nielsen O, Ritz BR. Association Between Estimated Geocoded Residential Maternal Exposure to Lithium in Drinking Water and Risk for Autism Spectrum Disorder in Offspring in Denmark. JAMA pediatrics. 2023.

IMPORTANCE: Lithium is a naturally occurring and trace element that has mood-stabilizing effects. Maternal therapeutic use of lithium has been associated with adverse birth outcomes. In animal models, lithium modulates Wnt/β-catenin signaling that is important for neurodevelopment. It is unknown whether exposure to lithium in drinking water affects brain health in early life. OBJECTIVE: To evaluate whether autism spectrum disorder (ASD) in offspring is associated with maternal exposure to lithium in drinking water during pregnancy. DESIGN, SETTING AND PARTICIPANTS: This nationwide population-based case-control study in Denmark identified 8842 children diagnosed with ASD born from 2000 through 2013 and 43 864 control participants matched by birth year and sex from the Danish Medical Birth Registry. These data were analyzed from March 2021 through November 2022. EXPOSURES: Geocoded maternal residential addresses during pregnancy were linked to lithium level (range, 0.6 to 30.7 μg/L) in drinking water estimated using kriging interpolation based on 151 waterworks measurements of lithium across all regions in Denmark. MAIN OUTCOMES AND MEASURES: ASD diagnoses were ascertained using International Statistical Classification of Diseases and Related Health Problems, Tenth Revision codes recorded in the Danish Psychiatric Central Register. The study team estimated odds ratios (ORs) and 95% CIs for ASD according to estimated geocoded maternal exposure to natural source of lithium in drinking water as a continuous (per IQR) or a categorical (quartile) variable, adjusting for sociodemographic factors and ambient air pollutants levels. The study team also conducted stratified analyses by birth years, child’s sex, and urbanicity. RESULTS: A total of 8842 participants with ASD (male, 7009 [79.3%]) and 43 864 control participants (male, 34 749 [79.2%]) were studied. Every IQR increase in estimated geocoded maternal exposure to natural source of lithium in drinking water was associated with higher odds for ASD in offspring (OR, 1.23; 95% CI, 1.17-1.29). Elevated odds among offspring for ASD were estimated starting from the second quartile (7.36 to 12.67 μg/L) of estimated maternal exposure to drinking water with lithium and the OR for the highest quartile (more than 16.78 μg/L) compared with the reference group (less than 7.39 μg/L) was 1.46 (95% CI, 1.35-1.59). The associations were unchanged when adjusting for air pollution exposures and no differences were apparent in stratified analyses. CONCLUSIONS AND RELEVANCE: Estimated maternal prenatal exposure to lithium from naturally occurring drinking water sources in Denmark was associated with an increased ASD risk in the offspring. This study suggests that naturally occurring lithium in drinking water may be a novel environmental risk factor for ASD development that requires further scrutiny.

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28. Maffei MF, Chenausky KV, Gill SV, Tager-Flusberg H, Green JR. Oromotor skills in autism spectrum disorder: A scoping review. Autism research : official journal of the International Society for Autism Research. 2023.

Oromotor functioning plays a foundational role in spoken communication and feeding, two areas of significant difficulty for many autistic individuals. However, despite years of research and established differences in gross and fine motor skills in this population, there is currently no clear consensus regarding the presence or nature of oral motor control deficits in autistic individuals. In this scoping review, we summarize research published between 1994 and 2022 to answer the following research questions: (1) What methods have been used to investigate oromotor functioning in autistic individuals? (2) Which oromotor behaviors have been investigated in this population? and (3) What conclusions can be drawn regarding oromotor skills in this population? Seven online databases were searched resulting in 107 studies meeting our inclusion criteria. Included studies varied widely in sample characteristics, behaviors analyzed, and research methodology. The large majority (81%) of included studies report a significant oromotor abnormality related to speech production, nonspeech oromotor skills, or feeding within a sample of autistic individuals based on age norms or in comparison to a control group. We examine these findings to identify trends, address methodological aspects hindering cross-study synthesis and generalization, and provide suggestions for future research.

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29. May D, Kponee-Shovein K, Mahendran M, Downes N, Sheng K, Lefebvre P, Cheng WY. Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study. BMC neurology. 2023; 23(1): 141.

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients with RTT is limited. This study provided an overview of the epidemiology, patient characteristics, clinical manifestations, healthcare resource utilization (HRU), costs, and treatment patterns of patients with RTT in the US. METHODS: IQVIA™ Medical Claims Data and Longitudinal Prescription Data (11/01/2016-10/31/2019) were used to identify female patients with RTT, with the first observed diagnosis defined as the index date. Annual incidence and prevalence of RTT were assessed over the entire study period; clinical manifestations, all-cause and RTT-related HRU and costs, and treatment patterns were evaluated during the observation period-from the index date to end of clinical activity or end of data availability, whichever occurred first. Results were further stratified into pediatric (< 18 years) and adult (≥ 18 years) subgroups. RESULTS: In 2019, prevalence and incidence of RTT was 0.32 and 0.23 per 10,000 enrollees, respectively. Among 5,940 female patients (pediatric: 3,078; adult: 2,862) with mean observation period of 2.04 years, the most prevalent clinical manifestations were neurological disorders (72.8%), gastrointestinal/nutritional disorders (41.9%), and orthopedic disorders (34.6%). The incidence rate of all-cause HRU was 44.43 visits per-patient-per-year and RTT-related HRU comprised 47% of all-cause HRU. Mean all-cause healthcare costs were $40,326 per-patient-per-year, with medical costs driven by home/hospice care visits, therapeutic services, outpatient visits, and inpatient visits. RTT-related healthcare costs comprised 45% of all-cause healthcare costs. The most prevalent supportive therapy and pharmacologic agent were feeding assistance (37.9%) and antiepileptic drugs (54.8%), respectively. Trends were similar by subgroup; although, rates of HRU were generally higher among pediatric patients relative to adult patients (all-cause: 52.43 and 35.86, respectively), which translated into higher mean healthcare costs (all-cause: $45,718 and $34,548, respectively). CONCLUSIONS: Patients with RTT have substantial disease burden, including prevalent clinical manifestations, high rates of HRU and annual healthcare costs, and reliance on pharmacologic and supportive therapies. These findings underscore the unmet need for effective therapies to target the multifactorial manifestations of RTT.

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30. McCabe H, Barnes RE, Jiang T. Ethical Issues in ABA-based Service Provision for Autism in Limited-Resource Contexts: A Case Example of the People’s Republic of China. Behavior analysis in practice. 2023; 16(1): 40-50.

Recommendations for intervention for young children with autism spectrum disorders (ASD) focus on early, intensive, and often individual intervention based on methods of applied behavior analysis. In much of the world, there are few options for early intervention. This article examines this question: in a context where intensive and high staff-to-student ratio intervention is not possible, how can provision of high-quality evidence-based intervention be ensured? We consider the case of China, where intervention for young children with autism is provided at diverse educational organizations, and funding limitations impact teacher-to-student ratio. Due to challenges, rigorous use of evidence-based methods often lags behind best practices. This article presents an ethical analysis of the choices educators face and research-based recommendations consistent with the ethical analysis. Given the current context, we recommend a socially valid approach of systematically using group instruction based on ABA principles to increase the effectiveness and intensity of each aspect of intervention programs. While focused on the case of China, recommendations and analysis have implications for other settings with limited resources.

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31. McDonnell CG, Andrzejewski T, Gomez Batista S, DeLucia EA, Fok M, Stanton K. Demographic Factors Relate to Autism Diagnostic Certainty: Implications for Enhancing Equitable Diagnosis Among Youth. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 2023: 1-11.

OBJECTIVE: Autism diagnosis is fraught with inequities, including misdiagnosis and delayed identification that disproportionately affect minoritized youth. Aspects of clinician decision-making, particularly diagnostic certainty, may contribute to these inequities. Little is known about how closely clinician certainty corresponds with autistic traits, nor whether certainty relates to socio-demographic factors. METHOD: Autistic youth from the Simons Simplex Collection (N = 2,853) completed assessments after which clinicians rated how certain they were that the child met autism diagnostic criteria. Core clinical factors included clinician-observed (Autism Diagnostic Observation Schedule; ADOS) and parent-reported autistic traits (Social Communication Questionnaire), and an overall IQ score. RESULTS: Clinician certainty was moderately positively associated with parent-reported and observed autistic traits and was just as strongly negatively associated with IQ. Socio-demographic factors significantly associated with certainty, even accounting for clinical measures. Lower income and older child age related to less certainty. In contrast, clinicians rated higher certainty for youth identified as Hispanic, Black or African American, or Asian. Race and income also moderated the concordance between certainty with clinical factors. The agreement between higher ADOS scores and higher certainty was significantly weaker for lower-income families. The association between lower IQ and higher certainty was non-significant for Asian youth. CONCLUSIONS: Diagnostic certainty ratings do not necessarily correspond closely with the level of autistic traits, and clinician perception of autism diagnosis may be related to demographic factors. Caution is needed when relying on clinician certainty to inform diagnosis. Future research on diagnostic practices is urgently needed among diverse and minoritized communities.

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32. Murakami Y, Imamura Y, Kasahara Y, Yoshida C, Momono Y, Fang K, Sakai D, Konishi Y, Nishiyama T. Maternal Inflammation with Elevated Kynurenine Metabolites Is Related to the Risk of Abnormal Brain Development and Behavioral Changes in Autism Spectrum Disorder. Cells. 2023; 12(7).

Several studies show that genetic and environmental factors contribute to the onset and progression of neurodevelopmental disorders. Maternal immune activation (MIA) during gestation is considered one of the major environmental factors driving this process. The kynurenine pathway (KP) is a major route of the essential amino acid L-tryptophan (Trp) catabolism in mammalian cells. Activation of the KP following neuro-inflammation can generate various endogenous neuroactive metabolites that may impact brain functions and behaviors. Additionally, neurotoxic metabolites and excitotoxicity cause long-term changes in the trophic support, glutamatergic system, and synaptic function following KP activation. Therefore, investigating the role of KP metabolites during neurodevelopment will likely promote further understanding of additional pathophysiology of neurodevelopmental disorders, including autism spectrum disorder (ASD). In this review, we describe the changes in KP metabolism in the brain during pregnancy and represent how maternal inflammation and genetic factors influence the KP during development. We overview the patients with ASD clinical data and animal models designed to verify the role of perinatal KP elevation in long-lasting biochemical, neuropathological, and behavioral deficits later in life. Our review will help shed light on new therapeutic strategies and interventions targeting the KP for neurodevelopmental disorders.

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33. O’Brien EM, Stricker PA, Harris KA, Liu H, Griffis H, Muhly WT. Perioperative Management and Outcomes in Patients With Autism Spectrum Disorder: A Retrospective Cohort Study. Anesthesia and analgesia. 2023.

BACKGROUND: Autism spectrum disorder (ASD) is a neurocognitive disorder characterized by impairments in communication and socialization. There are little data comparing the differences in perioperative outcomes in children with and without ASD. We hypothesized that children with ASD would have higher postoperative pain scores than those without ASD. METHODS: Pediatric patients undergoing ambulatory tonsillectomy/adenoidectomy, ophthalmological surgery, general surgery, and urologic procedures between 2016 and 2021 were included in this retrospective cohort study. ASD patients, defined by International Classification of Diseases-9/10 codes, were compared to controls utilizing inverse probability of treatment weighting based on surgical category/duration, age, sex, race and ethnicity, anesthetizing location, American Society of Anesthesiology physical status, intraoperative opioid dose, and intraoperative dexmedetomidine dose. The primary outcome was the maximum postanesthesia care unit (PACU) pain score, and secondary outcomes included premedication administration, behavior at induction, PACU opioid administration, postoperative vomiting, emergence delirium, and PACU length of stay. RESULTS: Three hundred thirty-five children with ASD and 11,551 non-ASD controls were included. Maximum PACU pain scores in the ASD group were not significantly higher than controls (median, 5; interquartile range [IQR], 0-8; ASD versus median, 5; IQR, 0-8 controls; median difference [95% confidence interval {CI}] of 0 [-1.1 to 1.1]; P = .66). There was no significant difference in the use of premedication (96% ASD versus 95% controls; odds ratio [OR], 1.5; [95% CI, 0.9-2.7]; P = .12), but the ASD cohort had significantly higher odds of receiving an intranasal premedication (4.2% ASD versus 1.2% controls; OR, 3.5 [95% CI, 1.8-6.8]; P < .001) and received ketamine significantly more frequently (0.3% ASD versus <0.1% controls; P < .001). Children with ASD were more likely to have parental (4.9% ASD versus 1.0% controls; OR, 5 [95% CI, 2.1-12]; P < .001) and child life specialist (1.3% ASD versus 0.1% controls; OR, 9.9 [95% CI, 2.3-43]; P < .001) presence at induction, but were more likely to have a difficult induction (11% ASD versus 3.4% controls; OR, 3.42 [95% CI, 1.7-6.7]; P < .001). There were no significant differences in postoperative opioid administration, emergence delirium, vomiting, or PACU length of stay between cohorts. CONCLUSIONS: We found no difference in maximum PACU pain scores in children with ASD compared to a similarly weighted cohort without ASD. Children with ASD had higher odds of a difficult induction despite similar rates of premedication administration, and significantly higher parental and child life specialist presence at induction. These findings highlight the need for future research to develop evidence-based interventions to optimize the perioperative care of this population.

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34. Perini S, Filosi M, Domenici E. Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs. Translational psychiatry. 2023; 13(1): 109.

While the genetics of autism spectrum disorders (ASD) has been intensively studied, resulting in the identification of over 100 putative risk genes, the epigenetics of ASD has received less attention, and results have been inconsistent across studies. We aimed to investigate the contribution of DNA methylation (DNAm) to the risk of ASD and identify candidate biomarkers arising from the interaction of epigenetic mechanisms with genotype, gene expression, and cellular proportions. We performed DNAm differential analysis using whole blood samples from 75 discordant sibling pairs of the Italian Autism Network collection and estimated their cellular composition. We studied the correlation between DNAm and gene expression accounting for the potential effects of different genotypes on DNAm. We showed that the proportion of NK cells was significantly reduced in ASD siblings suggesting an imbalance in their immune system. We identified differentially methylated regions (DMRs) involved in neurogenesis and synaptic organization. Among candidate loci for ASD, we detected a DMR mapping to CLEC11A (neighboring SHANK1) where DNAm and gene expression were significantly and negatively correlated, independently from genotype effects. As reported in previous studies, we confirmed the involvement of immune functions in the pathophysiology of ASD. Notwithstanding the complexity of the disorder, suitable biomarkers such as CLEC11A and its neighbor SHANK1 can be discovered using integrative analyses even with peripheral tissues.

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35. Peterson M, Whetten C, Clark AM, Nielsen JA. No difference in extra-axial cerebrospinal fluid volumes across neurodevelopmental and psychiatric conditions in later childhood and adolescence. Journal of neurodevelopmental disorders. 2023; 15(1): 12.

BACKGROUND: While autism spectrum disorder has been associated with various organizational and developmental aberrations in the brain, an increase in extra-axial cerebrospinal fluid volume has recently garnered attention. A series of studies indicate that an increased volume between the ages of 6 months and 4 years was both predictive of the autism diagnosis and symptom severity regardless of genetic risk for the condition. However, there remains a minimal understanding regarding the specificity of an increased volume of extra-axial cerebrospinal fluid to autism. METHODS: In the present study, we explored extra-axial cerebrospinal fluid volumes in children and adolescents ages 5-21 years with various neurodevelopmental and psychiatric conditions. We hypothesized that an elevated extra-axial cerebrospinal fluid volume would be found in autism compared with typical development and the other diagnostic group. We tested this hypothesis by employing a cross-sectional dataset of 446 individuals (85 autistic, 60 typically developing, and 301 other diagnosis). An analysis of covariance was used to examine differences in extra-axial cerebrospinal fluid volumes between these groups as well as a group by age interaction in extra-axial cerebrospinal fluid volumes. RESULTS: Inconsistent with our hypothesis, we found no group differences in extra-axial cerebrospinal fluid volume in this cohort. However, in replication of previous work, a doubling of extra-axial cerebrospinal fluid volume across adolescence was found. Further investigation into the relationship between extra-axial cerebrospinal fluid volume and cortical thickness suggested that this increase in extra-axial cerebrospinal fluid volume may be driven by a decrease in cortical thickness. Furthermore, an exploratory analysis found no relationship between extra-axial cerebrospinal fluid volume and sleep disturbances. CONCLUSIONS: These results indicate that an increased volume of extra-axial cerebrospinal fluid may be limited to autistic individuals younger than 5 years. Additionally, extra-axial cerebrospinal fluid volume does not differ between autistic, neurotypical, and other psychiatric conditions after age 4.

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36. Pettersson E, Christensen BM, Berglund IG, Huus K. Healthcare professionals’ experiences of situations during a procedure with a child with autism spectrum disorder in the high-technology environment. Child: care, health and development. 2023.

BACKGROUND: High technological environments can be challenging for children with autism spectrum disorders (ASD), because they can be sensitive to new environments, new faces and changes in daily routines. Those children are frequent visitors in those settings, and due to their heightened healthcare needs and their comorbidities, it could constitute a challenge for healthcare professionals to encounter those children. Exploring the healthcare professionals’ experiences can contribute to facilitate the procedure for a child with ASD. METHOD: A qualitative descriptive retrospective design with a critical incident technique has been used to capture the situations. Twenty healthcare professionals were interviewed about situations affecting the procedure in the high-technology environments, defined as anaesthesia and radiology departments. RESULT: The findings revealed both favourable situations and unfavourable situations affecting the procedure in the high-technology environment. The situations described by the healthcare professionals often involved their interactions with the child and the parents. The interactions were influenced by the parents’ attitudes to the procedure and also the healthcare professionals and the parents’ different expectations on the procedure. Other experiences described by the healthcare professionals were the unpredictability in different situations. Those situations were related to the child’s unpredictable behaviour in those environments and also to the unpredictable effect of premedication provided to the child. Moreover, the result revealed the organizational prerequisites for facilitating a procedure, such as not feeling any time pressure when leading a child through a procedure. CONCLUSIONS: Interactions between healthcare professionals, children with ASD and parents in the high-technology environment are complex. Unpredictability characterizes situations when leading a child with ASD through a procedure. This place demands on the healthcare professional, the environment and the organization.

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37. Qiu Z, Luo D, Yin H, Chen Y, Zhou Z, Zhang J, Zhang L, Xia J, Xie J, Sun Q, Xu W. Lactiplantibacillus plantarum N-1 improves autism-like behavior and gut microbiota in mouse. Frontiers in microbiology. 2023; 14: 1134517.

INTRODUCTION: The gut-brain axis has been widely recognized in autism spectrum disorder (ASD), and probiotics are considered to potentially benefit the rescuing of autism-like behaviors. As a probiotic strain, Lactiplantibacillus plantarum N-1(LPN-1) was utilized to investigate its effects on gut microbiota and autism-like behaviors in ASD mice constructed by maternal immune activation (MIA). METHODS: Adult offspring of MIA mice were given LPN-1 at the dosage of 2  ×  10(9)  CFU/g for 4  weeks before subject to the behavior and gut microbiota evaluation. RESULTS: The behavioral tests showed that LPN-1 intervention was able to rescue autism-like behaviors in mice, including anxiety and depression. In which the LPN-1 treatment group increased the time spent interacting with strangers in the three-chamber test, their activity time and distance in the central area increased in the open field test, and their immobility time decreased when hanging their tails. Moreover, the supplementation of LPN-1 reversed the intestinal flora structure of ASD mice by enhancing the relative abundance of the pivotal microorganisms of Allobaculum and Oscillospira, while reducing those harmful ones like Sutterella at the genus level. DISCUSSION: These results suggested that LPN-1 supplementation may improve autism-like behaviors, possibly via regulating the gut microbiota.

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38. Ramey D, Healy O, McEnaney E. Defining and Measuring Indices of Happiness and Unhappiness in Children Diagnosed with Autism Spectrum Disorder. Behavior analysis in practice. 2023; 16(1): 194-209.

Improving quality of life (QoL) is the goal of behavior analytic services, but there can be barriers to assessing the QoL of autistic children due to characteristics inherent in the condition. Given that happiness is a fundamental element of QoL, previous research has relied on behavioral indicators of mood (e.g., smiling, crying) to evaluate the overall QoL of disabled individuals. However, the use of these traditional indices may not accurately reflect the emotional well-being of autistic individuals, who are known to engage in idiosyncratic mood indicators. The current study replicated selected procedures from Parsons et al. (2012) to identify and validate the unique mood indicators of young autistic children. The study showed that individualized indices of happiness and unhappiness could be operationally defined and reliably measured among these children. Key findings and limitations of this study are discussed, and the implications of these findings are presented. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s40617-022-00710-y.

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39. Ranjan R, Jha S, Prajjwal P, Chaudhary A, Dudeja P, Vora N, Mateen MA, Yousuf MA, Chaudhary B. Neurological, Psychiatric, and Multisystemic Involvement of Fragile X Syndrome Along With Its Pathophysiology, Methods of Screening, and Current Treatment Modalities. Cureus. 2023; 15(2): e35505.

Fragile X syndrome (FXS) is a hereditary disease that predominantly leads to intellectual disability (ID) in boys. It is the second prominent cause of ID, which manifests as a result of the atypical development of the cytosine-guanine-guanine (CGG) region. This irregular extension of the CGG region gives rise to methylation and silencing of the fragile X mental retardation 1 (FMR1) gene, causing a loss of the fragile X mental retardation 1 protein (FMRP). This reduction or loss of FMRP is the main cause of ID. It has a multisystemic involvement showing neuropsychiatric features such as ID, speech and language delay, autism spectrum disorder, sensory hyperarousal, social anxiety, abnormal eye contact, shyness, and aggressive behaviour. It is also known to cause musculoskeletal symptoms, ocular symptoms, cardiac abnormalities, and gastrointestinal symptoms. The management is challenging, and there is no known cure for the disease; hence an early diagnosis of the condition is needed through prenatal screening offered to couples with familial history of ID before conception. The management rests on non-pharmacological modalities, including applied behaviour analysis, physical therapy, occupational therapy, speech-language therapy, and pharmacologic management through symptomatic treatment of comorbid behaviours and psychiatric problems and some forms of targeted therapy.

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40. Saez CM, Davies MS, Kazemi E, Fields A. Factors Affecting Parent Treatment Decisions for Children with Autism Spectrum Disorders: A Brief Review. Behavior analysis in practice. 2023; 16(1): 93-101.

Parents and caregivers of individuals with autism spectrum disorders (ASD) are faced with a vast array of treatment options, which vary greatly in evidence-based merits, and it is unclear what factors affect their final selections. Understanding the factors that influence family decisions can shed light on avenues for more effectively communicating the importance of selecting empirically supported treatments. In this article, we conducted a systematic literature review on how parents select evidence-based treatments for their children with ASD. We categorized treatment types using a combination of established resources, such as the National Standards Project (NSP), to determine the validity of research evidence for different ASD treatments. We reported the various treatment types, decision-making factors, and sources of recommendations across the literature, and compared those with earlier systematic literature reviews. The results of the present review indicate that parents’ decisions are influenced by the accessibility of treatment, trust of practitioners, and alignment on factors such as parental values and the child’s specific needs. We conclude with suggestions for practitioners and researchers on future research and wider adoption of evidence-based treatments (EBTs).

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41. Salem S, Ashaat E. Association of Relative Telomere Length and LINE-1 Methylation with Autism but not with Severity. Journal of autism and developmental disorders. 2023.

Autism is associated with genomic instability, which is regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) and LINE-1 methylation percentage for 69 patients and 33 control subjects to evaluate their potential role as biomarkers for autism. The results displayed a significant decrease of both RTL and LINE-1 methylation in autistic cases relative to controls (P < 0.001). Analysis of receiver operating characteristics curve revealed that both of RTL and LINE-1 methylation percentage have the ability to serve as autism biomarkers (area under the curve = 0.817 and 0.889, respectively). The statistical analysis revealed positive correlation between the two biomarkers (correlation coefficient = 0.439 and P < 0.001).

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42. Shaker E, Agami OE, Salamah A. Bumetanide, a Diuretic That Can Help Children with Autism Spectrum Disorder. CNS & neurological disorders drug targets. 2023.

BACKGROUND: Autism Spectrum Disorder (ASD) is a common child neurodevelopmental disorder, whose pathogenesis is not completely understood. Until now, there is no proven treatment for the core symptoms of ASD. However, some evidence indicates a crucial link between this disorder and GABAergic signals which are altered in ASD. Bumetanide is a diuretic that reduces chloride, shifts gamma-amino-butyric acid (GABA) from excitation to inhibition, and may play a significant role in the treatment of ASD. OBJECTIVE: The objective of this study is to assess the safety and efficacy of bumetanide as a treatment for ASD. METHODS: Eighty children, aged 3-12 years, with ASD diagnosed by Childhood Autism Rating Scale (CARS), ⩾30 were included in this double-blind, randomized, and controlled study. Group 1 received Bumetanide, Group 2 received a placebo for 6 months. Follow-up by CARS rating scale was performed before and after 1, 3, and 6 months of treatment. RESULTS: The use of bumetanide in group 1 improved the core symptoms of ASD in a shorter time with minimal and tolerable adverse effects. There was a statistically significant decrease in CARS and most of its fifteen items in group 1 versus group 2 after 6 months of treatment (p-value <0.001). CONCLUSION: Bumetanide has an important role in the treatment of core symptoms of ASD.

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43. Townsend TG, Dillard-Wright J, Prestwich K, Alapatt V, Kouame G, Kubicki JM, Johnson KF, Williams CD. Public safety redefined: Mitigating trauma by centering the community in community mental health. The American psychologist. 2023; 78(2): 227-43.

The summer of 2020 marked a shift in public perception of police brutality and racism in the United States. Following the police murder of George Floyd and ensuing social unrest, the appropriate role and function of the police in communities have been a frequent topic of debate. Of particular concern is the intersection of policing and mental health where we see a pattern of police using excessive force disproportionately against persons with disabilities, especially mental health disabilities (Autistic Self Advocacy Network, 2017). The introduction of race only exacerbates this disparity (Saleh et al., 2018). Given the realities of these mental health inequities, the aim of this scoping review is to explore first response models/programs that emphasize a therapeutic intervention as an alternative to policing. Seventeen articles were selected for inclusion in the review, six exploratory or experimental studies and 11 review or discussion articles. Using findings from the review, we offer recommendations to help reimagine this country’s approach to emergency response. We urge psychologists and other health care providers to step out of the clinic and engage the community in the development of crisis responses for mental health emergencies that are therapeutic rather than inflammatory, healing rather than harming. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

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44. Zhang L, Xu Y, Sun S, Liang C, Li W, Li H, Zhang X, Pang D, Li M, Li H, Lang Y, Liu J, Jiang S, Shi X, Li B, Yang Y, Wang Y, Li Z, Song C, Duan G, Leavenworth JW, Wang X, Zhu C. Integrative analysis of γδT cells and dietary factors reveals predictive values for autism spectrum disorder in children. Brain, behavior, and immunity. 2023; 111: 76-89.

BACKGROUND: Autism spectrum disorder (ASD) includes a range of multifactorial neurodevelopmental disabilities characterized by a variable set of neuropsychiatric symptoms. Immunological abnormalities have been considered to play important roles in the pathogenesis of ASD, but it is still unknown which abnormalities are more prominent. METHODS: A total of 105 children with ASD and 105 age and gender-matched typically developing (TD) children were recruited. An eating and mealtime behavior questionnaire, dietary habits, and the Bristol Stool Scale were investigated. The immune cell profiles in peripheral blood were analyzed by flow cytometry, and cytokines (IFN-γ, IL-8, IL-10, IL-17A, and TNF-α) in plasma were examined by Luminex assay. The obtained results were further validated using an external validation cohort including 82 children with ASD and 51 TD children. RESULTS: Compared to TD children, children with ASD had significant eating and mealtime behavioral changes and gastrointestinal symptoms characterized by increased food fussiness and emotional eating, decreased fruit and vegetable consumption, and increased stool astriction. The proportion of γδT cells was significantly higher in children with ASD than TD children (β: 0.156; 95% CI: 0.888 ∼ 2.135, p < 0.001) even after adjusting for gender, eating and mealtime behaviors, and dietary habits. In addition, the increased γδT cells were evident in all age groups (age < 48 months: β: 0.288; 95% CI: 0.420 ∼ 4.899, p = 0.020; age ≥ 48 months: β: 0.458; 95% CI: 0.694 ∼ 9.352, p = 0.024), as well as in boys (β: 0.174; 95% CI: 0.834 ∼ 2.625, p < 0.001) but not in girls. These findings were also confirmed by an external validation cohort. Furthermore, IL-17, but not IFN-γ, secretion by the circulating γδT cells was increased in ASD children. Machine learning revealed that the area under the curve in nomogram plots for increased γδT cells combined with eating behavior/dietary factors was 0.905, which held true in both boys and girls and in all the age groups of ASD children. The decision curves showed that children can receive significantly higher diagnostic benefit within the threshold probability range from 0 to 1.0 in the nomogram model. CONCLUSIONS: Children with ASD present with divergent eating and mealtime behaviors and dietary habits as well as gastrointestinal symptoms. In peripheral blood, γδT cells but not αβT cells are associated with ASD. The increased γδT cells combined with eating and mealtime behavior/dietary factors have a high value for assisting in the diagnosis of ASD.

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45. Zlatic SA, Werner E, Surapaneni V, Lee CE, Gokhale A, Singleton K, Duong D, Crocker A, Gentile K, Middleton F, Patgiri A, Tarquinio D, Carpenter R, Faundez V. Systemic Metabolic and Mitochondrial Defects in Rett Syndrome Models. bioRxiv : the preprint server for biology. 2023.

Neurodevelopmental disorder genes are broadly expressed supporting the concept that these disorders are systemic diseases that impact neurodevelopment. We tested the systemic disease model focusing on Rett syndrome, which is caused by mutations in MECP2 . Transcriptomes and proteomes of organs and brain regions from Mecp2 -null mice and MECP2 -null human cells were assessed. Widespread changes in the transcriptome and proteome were identified in brain regions and organs of presymptomatic Mecp2 -null male mice and mutant cell lines. The extent of these transcriptome and proteome modifications was similar in cortex, liver, kidney, and skeletal muscle and more pronounced than in the hippocampus and striatum. In particular, Mecp2 – and MECP2 -sensitive proteomes were enriched in synaptic and metabolic annotated gene products, the latter encompassing lipid and mitochondrial pathways. MECP2 mutations altered pyruvate-dependent mitochondrial respiration while maintaining the capacity to use glutamine as a mitochondrial carbon source. We conclude that mutations in Mecp2 / MECP2 perturb lipid and mitochondrial metabolism systemically limiting cellular flexibility to utilize mitochondrial fuels.

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