1. Aiello S, Leonardi E, Cerasa A, Servidio R, Famà FI, Carrozza C, Campisi A, Marino F, Scifo R, Baieli S, Corpina F, Tartarisco G, Vagni D, Pioggia G, Ruta L. Video-Feedback Approach Improves Parental Compliance to Early Behavioral Interventions in Children with Autism Spectrum Disorders during the COVID-19 Pandemic: A Pilot Investigation. Children (Basel, Switzerland). 2022; 9(11).

In the field of autism intervention, a large amount of evidence has demonstrated that parent-mediated interventions are effective in promoting a child’s learning and parent caring skills. Furthermore, remote delivery treatments are feasible and can represent a promising opportunity to reach families at distance with positive results. Recently, the sudden outbreak of COVID-19 dramatically disrupted intervention services for autism and forced an immediate reorganization of the territory services toward tele-assisted intervention programs, according to professional and local resources. Our study aimed to conduct a retrospective pilot exploratory investigation on parental compliance, participation, and satisfaction in relation to three different telehealth intervention modalities, such as video feedback, live streaming, and psychoeducation, implemented in the context of a public community setting delivering early autism intervention during the COVID-19 emergency. We found that parents who attended video feedback expressed the highest rate of compliance and participation, while parental psychoeducation showed significantly lower compliance and the highest drop-out rate. Regardless of the tele-assistance modality, all the participants expressed satisfaction with the telehealth experience, finding it useful and effective. Potential benefits and advantages of different remote modalities with reference to parent involvement and effectiveness are important aspects to be taken into account and should be further investigated in future studies.

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2. Asta L, Persico AM. Differential Predictors of Response to Early Start Denver Model vs. Early Intensive Behavioral Intervention in Young Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Brain sciences. 2022; 12(11).

The effectiveness of early intensive interventions for Autism Spectrum Disorder (ASD) is now well-established, but there continues to be great interindividual variability in treatment response. The purpose of this systematic review is to identify putative predictors of response to two different approaches in behavioral treatment: Early Intensive Behavioral Interventions (EIBI) and the Early Start Denver Model (ESDM). Both are based upon the foundations of Applied Behavioral Analysis (ABA), but the former is more structured and therapist-driven, while the latter is more naturalistic and child-driven. Four databases (EmBase, PubMed, Scopus and WebOfScience) were systematically screened, and an additional search was conducted in the reference lists of relevant articles. Studies were selected if participants were children with ASD aged 12-48 months at intake, receiving either EIBI or ESDM treatment. For each putative predictor, p-values from different studies were combined using Fisher’s method. Thirteen studies reporting on EIBI and eleven on ESDM met the inclusion criteria. A higher IQ at intake represents the strongest predictor of positive response to EIBI, while a set of social cognitive skills, including intention to communicate, receptive and expressive language, and attention to faces, most consistently predict response to ESDM. Although more research will be necessary to reach definitive conclusions, these findings begin to shed some light on patient characteristics that are predictive of preferential response to EIBI and ESDM, and may provide clinically useful information to begin personalizing treatment.

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3. Cañete R, Peralta E. Assistive Technology to Improve Collaboration in Children with ASD: State-of-the-Art and Future Challenges in the Smart Products Sector. Sensors (Basel, Switzerland). 2022; 22(21).

Within the field of products for autism spectrum disorder, one of the main research areas is focused on the development of assistive technology. Mid and high-tech products integrate interactive and smart functions with multisensory reinforcements, making the user experience more intuitive, adaptable, and dynamic. These products have a very significant impact on improving the skills of children with autism, including collaboration and social skills, which are essential for the integration of these children into society and, therefore, their well-being. This work carried out an exhaustive analysis of the scientific literature, as well as market research and trends, and patent analysis to explore the state-of-the-art of assistive technology and smart products for children with ASD, specifically those aimed at improving social and communication skills. The results show a reduced availability of products that act as facilitators of the special needs of children with ASD, which is even more evident for products aimed at improving collaboration skills. Products that allow the participation of several users simultaneously through multi-user interfaces are required. On top of this, the trend toward virtual environments is leading to a loss of material aspects in the design that are essential for the development of these children.

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4. Chen S, Zhang Y, Zhao M, Du X, Wang Y, Liu X. Effects of Therapeutic Horseback-Riding Program on Social and Communication Skills in Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. International journal of environmental research and public health. 2022; 19(21).

Animal-assisted therapy has become a fast-growing and effective approach for remediating core impairments of children with ASD; however, recent systematic review studies on the effects of AAT in children with ASD have some limitations, including referral to a variety of animal-assisted interventions rather than to horseback-riding therapy alone and the absence of any meta-analysis in systematic reviews. A complete systematic review of the studies that describe the use of THR as an intervention is needed to specifically target the core impairments of children with ASD. The purpose of this study was to employ the systematic review method to synthesize research findings regarding the effects of THR programs on the social interaction and communication skills of children with ASD. We conducted a structured search in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We searched for potentially relevant studies in five databases (Web of Science, PubMed, CINAHL, Scopus, and SPORTDiscus) from inception until February 2022. In addition, we manually searched the bibliographies of the included studies to find articles that might otherwise have been missed. We considered articles eligible or ineligible if they satisfied specific inclusion or exclusion criteria. Our results showed that the THR program is an effective direct and alternative therapeutic program that can considerably improve the social behaviors and communication skills of children with ASD and can effectively impact autistic impairments in areas such as social awareness, social cognition, social motivation, and social communication. These findings are in line with those of previous studies; however, we did not find statistical evidence of any effect of THR on the autistic behaviors of irritability, stereotypy, and inappropriate speech. In conclusion, the findings produced by this meta-analysis study provide evidence that THR programs can considerably improve the social behaviors and communication skills of children with ASD.

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5. Chen Y, Ma K, Xu P, Si H, Duan Y, Zhai H. Design and Screening of New Lead Compounds for Autism Based on QSAR Model and Molecular Docking Studies. Molecules (Basel, Switzerland). 2022; 27(21).

The purpose of the present study aims to develop a satisfactory model for predicting pro-social and pro-cognitive effects on azinesulfonamides of cyclic amine derivatives as potential antipsychotics. The three dimensional-quantitative structure affinity relationship (3D-QSAR) study was performed on a series of azinesulfonamides of cyclic amine derivative using comparative molecular similarity indices analysis (CoMSIA). The best statistical model of CoMSIA q2, r2, SEE and F values are 0.664, 0.973, 0.087, and 82.344, respectively. Based on the model contour maps and the highest activity structure of the 43rd compound, serial new structures were designed and the 43k1 compound was selected as the best structure. The dock results showed a good binding of 43k1 with the protein (PDB ID: 6A93). The QSAR model analysis of the contour maps can help us to provide guidelines for finding novel potential antipsychotics.

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6. Davis O. Abnormal Chromatin Folding in the Molecular Pathogenesis of Epilepsy and Autism Spectrum Disorder: a Meta-synthesis with Systematic Searching. Molecular neurobiology. 2022.

How DNA is folded and packaged in nucleosomes is an essential regulator of gene expression. Abnormal patterns of chromatin folding are implicated in a wide range of diseases and disorders, including epilepsy and autism spectrum disorder (ASD). These disorders are thought to have a shared pathogenesis involving an imbalance in the number of excitatory-inhibitory neurons formed during neurodevelopment; however, the underlying pathological mechanism behind this imbalance is poorly understood. Studies are increasingly implicating abnormal chromatin folding in neural stem cells as one of the candidate pathological mechanisms, but no review has yet attempted to summarise the knowledge in this field. This meta-synthesis is a systematic search of all the articles on epilepsy, ASD, and chromatin folding. Its two main objectives were to determine to what extent abnormal chromatin folding is implicated in the pathogenesis of epilepsy and ASD, and secondly how abnormal chromatin folding leads to pathological disease processes. This search produced 22 relevant articles, which together strongly implicate abnormal chromatin folding in the pathogenesis of epilepsy and ASD. A range of mutations and chromosomal structural abnormalities lead to this effect, including single nucleotide polymorphisms, copy number variants, translocations and mutations in chromatin modifying. However, knowledge is much more limited into how abnormal chromatin organisation subsequently causes pathological disease processes, not yet showing, for example, whether it leads to abnormal excitation-inhibitory neuron imbalance in human brain organoids.

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7. Ezedinma U, Swierkowski P, Fjaagesund S. Outcomes from Individual Alpha Frequency Guided Repetitive Transcranial Magnetic Stimulation in Children with Autism Spectrum Disorder – A Retrospective Chart Review. Child psychiatry and human development. 2022.

AIMS AND OBJECTIVES: Individual alpha frequency (IAF) is a biomarker of neurophysiological functioning. The IAF-guided repetitive transcranial magnetic stimulation (α-rTMS) is increasingly explored in diverse neurological conditions. However, there is limited data on the efficacy and safety of α-rTMS in children with autism spectrum disorder (ASD). MATERIALS AND METHODS: The IAF, childhood autism rating scale (CARS), Pediatric Quality of Life Inventory 4.0 (PedsQLTM 4.0), and semi-structured interview data of patients that received 19 α-rTMS sessions (4 weeks) were aggregated and analysed using paired student t-test and descriptive method. RESULTS: Data were retrieved from 28 patients (26 males, aged 3-9years (mean ± SD age: 6.1 ± 1.8years)). The post-α-rTMS data shows a significant improvement in IAF (9.4 Hz; p ≤ 0.025) towards 10 Hz. The CARS and PedsQLTM 4.0 surveys indicate that patients’ ASD symptoms and quality of life improved significantly. Specifically, reports from semi-structured interviews suggest improved sleep trouble – the most significant comorbidity. The experiences of minor side effects such as hyperactivity resolved within two hours following α-rTMS sessions. CONCLUSION: This study presents evidence on the efficacy and safety of α-rTMS in improving ASD symptoms, quality of life and comorbid sleep troubles in children. However, these findings should be interpreted as preliminary pending the presentation of double-blind, randomised clinical trials.

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8. Fox E, Gerdts J, Ahlers K, Kotchick B. Age-Based Tracks: A Method to Tailor Autism Diagnostic Evaluation in Large-Scale Autism Specialty Centers. Journal of clinical medicine. 2022; 11(21).

This paper describes a proposed model of diagnostic evaluation for autism spectrum disorder (ASD) at a large-scale ASD specialty center. Our center has implemented age-based diagnostic tracks within an interdisciplinary team evaluation approach to assessing ASD. Data were collected as part of a program evaluation and included responses from provider surveys as well as patient medical record reviews. The results from 803 patients were included. The diagnostic outcomes, time for evaluation, and appropriateness of referral were analyzed in patients referred to the Younger (n = 155) and Older (n = 648) diagnostic tracks. In 92.8% of cases referred to the clinic’s standard team evaluation model, the provider teams were able to make a diagnostic decision within the allotted evaluation time. The results from an additional diagnostic pathway, termed the Autism Psych Team (APT), within the older track were also presented. The intake providers had the option to triage older patients to this pathway when they anticipated that the patient might be diagnostically complex. Most patients (45.1%) triaged to the APT were referred due to psychiatric complexity. In 96% of APT cases, the APT providers felt the patient was an appropriate referral. Overall, these results suggest a method to efficiently triage patients to diagnostic models equipped to serve them within a high-volume ASD center.

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9. Frost-Karlsson M, Capusan AJ, Perini I, Olausson H, Zetterqvist M, Gustafsson PA, Boehme R. Neural processing of self-touch and other-touch in anorexia nervosa and autism spectrum condition. NeuroImage Clinical. 2022; 36: 103264.

INTRODUCTION: The tactile sense plays a crucial role in the development and maintenance of a functional bodily self. The ability to differentiate between self- and nonself-generated touch contributes to the perception of the bodies’ boundaries and more generally to self-other-distinction, both of which are thought be altered in anorexia nervosa (AN) and autism spectrum condition (AS). While it has been suggested that AN and AS are characterized by overlapping symptomatology, they might differ regarding body perception and self-other-distinction. METHODS: Participants with a diagnosis of AN (n = 25), AS (n = 29), and a comparison group without diagnoses (n = 57) performed a self-other-touch task during functional brain imaging. In the experimental conditions, they stroked their own arm or were stroked on the arm by an experimenter. RESULTS: As shown previously, the CG group showed lower activation or deactivation in response to self-touch compared to social touch from someone else. A main group effect was found in areas including somatosensory cortex, frontal and temporal gyri, insula, and subcortical regions. This was driven by increased activations in participants with AN, while participants in the AS group showed mostly comparable activations to the comparison group. CONCLUSIONS: AN diagnosis was associated with an increased neural activity in response to both self-touch and social touch. Failure to attenuate self-touch might relate to altered predictions regarding the own body and reduced perception of bodily boundaries. Participants with an AS diagnosis were mostly comparable to the comparison group, potentially indicating unaltered tactile self-other-distinction.

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10. Gagliano A, Murgia F, Capodiferro AM, Tanca MG, Hendren A, Falqui SG, Aresti M, Comini M, Carucci S, Cocco E, Lorefice L, Roccella M, Vetri L, Sotgiu S, Zuddas A, Atzori L. (1)H-NMR-Based Metabolomics in Autism Spectrum Disorder and Pediatric Acute-Onset Neuropsychiatric Syndrome. Journal of clinical medicine. 2022; 11(21).

We recently described a unique plasma metabolite profile in subjects with pediatric acute-onset neuropsychiatric syndrome (PANS), suggesting pathogenic models involving specific patterns of neurotransmission, neuroinflammation, and oxidative stress. Here, we extend the analysis to a group of patients with autism spectrum disorder (ASD), as a consensus has recently emerged around its immune-mediated pathophysiology with a widespread involvement of brain networks. This observational case-control study enrolled patients referred for PANS and ASD from June 2019 to May 2020, as well as neurotypical age and gender-matched control subjects. Thirty-four PANS outpatients, fifteen ASD outpatients, and twenty-five neurotypical subjects underwent physical and neuropsychiatric evaluations, alongside serum metabolomic analysis with 1H-NMR. In supervised models, the metabolomic profile of ASD was significantly different from controls (p = 0.0001), with skewed concentrations of asparagine, aspartate, betaine, glycine, lactate, glucose, and pyruvate. Metabolomic separation was also observed between PANS and ASD subjects (p = 0.02), with differences in the concentrations of arginine, aspartate, betaine, choline, creatine phosphate, glycine, pyruvate, and tryptophan. We confirmed a unique serum metabolomic profile of PANS compared with both ASD and neurotypical subjects, distinguishing PANS as a pathophysiological entity per se. Tryptophan and glycine appear as neuroinflammatory fingerprints of PANS and ASD, respectively. In particular, a reduction in glycine would primarily affect NMDA-R excitatory tone, overall impairing downstream glutamatergic, dopaminergic, and GABAergic transmissions. Nonetheless, we found metabolomic similarities between PANS and ASD that suggest a putative role of N-methyl-D-aspartate receptor (NMDA-R) dysfunction in both disorders. Metabolomics-based approaches could contribute to the identification of novel ASD and PANS biomarkers.

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11. Gasser B, Calin AE, Escher G, Kurz J, Emmenegger A, Buerki S, Schmidt-Trucksäss A, Mohaupt M. Light in the Rational Treatment of Autism? Effects of Metformin on Steroid Hormones in a Patient with Polycystic Ovarian Syndrome (PCOS). Life (Basel, Switzerland). 2022; 12(11).

Background: Metformin is an effective treatment option for type 2 diabetes mellitus, and it is, to this day, the most prescribed oral antiglycaemic drug. Besides its effects mainly on mitochondrial activity, an off-label use came up as a pharmaceutical for subjects with a diagnosis of polycystic ovarian syndrome (PCOS) along with altered steroid hormone homeostasis. Besides these effects, even an influence on mood and social behavior was described, leading to the aim of this case report to elucidate the effects before versus after treatment with metformin on steroid hormones and social behavior. Methods: A female patient with diagnosed PCOS was analyzed three times for steroid hormone levels. The first analysis was performed before treatment; the second, after a period of 71 days with metformin at 2 × 500 mg; and the third, after a total of 144 days with metformin at 2 × 500 mg. Spot urine probes were taken in the morning for a combined gas chromatography-mass spectrometry (GC-MS), and the steroid levels were adjusted for creatinine excretion. A questionnaire on social behavior (Autism Spectrum Questionnaire) was administered before treatment and after 71 days. Results: A decrease in all the steroid hormones measured was detected after 71 and 144 days of treatment with metformin, being more pronounced after 144 days of treatment and highly significant (p < 0.001). Furthermore, in the untreated state, the class of corticosterone metabolites showed increased values compared to the female reference values for TH-11-DH-corticosterone, TH-corticosterone, and 5a-TH-corticosterone. In the class of estrogen metabolites, increased values compared to the reference values were detected for 17b-estradiol; in the class of 11-deoxycortisol metabolites, an increase in TH-11-deoxycortisol was detected. For the class of cortisol metabolites, increased values compared to the reference values were detected for cortisone, TH-cortisone, a-cortolone, b-cortolone, 20b-dihydrocortisone, cortisol, TH-cortisol, 5a-TH-cortisol, a-cortol, 20b-dihydrocortisol, and 6b-OH-cortisol. No increases in androgen metabolites were detected. Interestingly, weight decreased from 93.4 kg to 91.3 kg after 71 days and fell to 82.7 kg after 144 days of treatment. The skeletal muscle mass was 30.1 kg at the first visit, decreasing to 29.9 kg and to 27.5 kg. No significant difference in the social behavior score from baseline to after 71 days of treatment was detected. Discussion: Metformin improved the steroid hormone profiles from levels above the upper reference values to the middle of the reference values after 71 days and to the lower ends of the reference values after 144 days of treatment. This implies not only that metformin has an effect on steroid hormone levels, but in addition that the efficacy of the pharmaceutical seems to depend on the time interval from intake. To summarize, in this patient, steroid hormones were affected but social behavior was not. If no effect of metformin on social behavior exists, this must be supported by further cases.

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12. Greene RK, Rich-Wimmer N, Williams CN, Hall TA. Social Functioning and Autistic Behaviors in Youth Following Acquired Brain Injury. Children (Basel, Switzerland). 2022; 9(11).

Children and adolescents who survive the pediatric intensive care unit (PICU) with an acquired brain injury (ABI) often demonstrate a variety of physical, cognitive, emotional/behavioral, and social sequelae termed post-intensive care syndrome (PICS). Social communication and interaction challenges have also been observed clinically, and there is growing literature documenting these occurrences in youth following ABI. The extent of these social changes varies among patients, and a subset of patients go on to exhibit social and behavioral profiles closely resembling those of autistic youth. We reviewed empirical research regarding social functioning in youth following ABI, as well as the overlap between individuals with ABI and autistic youth, published from January 2009 to August 2022 on PubMed and Scopus databases. Clinical case examples from a well-established post-PICU follow-up program are also provided to exemplify the complexity of this phenomenon.

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13. Hayden-Evans M, Milbourn B, D’Arcy E, Chamberlain A, Afsharnejad B, Evans K, Whitehouse AJO, Bölte S, Girdler S. An Evaluation of the Overall Utility of Measures of Functioning Suitable for School-Aged Children on the Autism Spectrum: A Scoping Review. International journal of environmental research and public health. 2022; 19(21).

A diagnosis of an autism spectrum condition (autism) provides limited information regarding an individual’s level of functioning, information key in determining support and funding needs. Using the framework introduced by Arksey and O’Malley, this scoping review aimed to identify measures of functioning suitable for school-aged children on the autism spectrum and evaluate their overall utility, including content validity against the International Classification of Functioning, Disability and Health (ICF) and the ICF Core Sets for Autism. The overall utility of the 13 included tools was determined using the Outcome Measures Rating Form (OMRF), with the Adaptive Behavior Assessment System (ABAS-3) receiving the highest overall utility rating. Content validity of the tools in relation to the ICF and ICF Core Sets for Autism varied, with few assessment tools including any items linking to Environmental Factors of the ICF. The ABAS-3 had the greatest total number of codes linking to the Comprehensive ICF Core Set for Autism while the Vineland Adaptive Behavior Scales (Vineland-3) had the greatest number of unique codes linking to both the Comprehensive ICF Core Set for Autism and the Brief ICF Core Set for Autism (6-16 years). Measuring functioning of school-aged children on the spectrum can be challenging, however, it is important to accurately capture their abilities to ensure equitable and individualised access to funding and supports.

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14. Lin TL, Lu CC, Chen TW, Huang CW, Lu JJ, Lai WF, Wu TS, Lai CH, Lai HC, Chen YL. Amelioration of Maternal Immune Activation-Induced Autism Relevant Behaviors by Gut Commensal Parabacteroides goldsteinii. International journal of molecular sciences. 2022; 23(21).

Autism spectrum disorder (ASD) is characterized by cognitive inflexibility and social deficits. Probiotics have been demonstrated to play a promising role in managing the severity of ASD. However, there are no effective probiotics for clinical use. Identifying new probiotic strains for ameliorating ASD is therefore essential. Using the maternal immune activation (MIA)-based offspring ASD-like mouse model, a probiotic-based intervention strategy was examined in female mice. The gut commensal microbe Parabacteroides goldsteinii MTS01, which was previously demonstrated to exert multiple beneficial effects on chronic inflammation-related-diseases, was evaluated. Prenatal lipopolysaccharide (LPS) exposure induced leaky gut-related inflammatory phenotypes in the colon, increased LPS activity in sera, and induced autistic-like behaviors in offspring mice. By contrast, P. goldsteinii MTS01 treatment significantly reduced intestinal and systemic inflammation and ameliorated disease development. Transcriptomic analyses of MIA offspring indicated that in the intestine, P. goldsteinii MTS01 enhanced neuropeptide-related signaling and suppressed aberrant cell proliferation and inflammatory responses. In the hippocampus, P. goldsteinii MTS01 increased ribosomal/mitochondrial and antioxidant activities and decreased glutamate receptor signaling. Together, significant ameliorative effects of P. goldsteinii MTS01 on ASD relevant behaviors in MIA offspring were identified. Therefore, P. goldsteinii MTS01 could be developed as a next-generation probiotic for ameliorating ASD.

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15. Lopes LT, Rodrigues JM, Baccarin C, Oliveira K, Abreu M, Ribeiro V, Anastácio ZC, Machado JP. Autism Spectrum as an Etiologic Systemic Disorder: A Protocol for an Umbrella Review. Healthcare (Basel, Switzerland). 2022; 10(11).

Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a huge prevalence increasing every year (1/44 children). Still diagnosed as a mental disorder, the last 10 years of research found possible causes, risks, genetics, environmental triggers, epigenetics, metabolic, immunological, and neurophysiological unbalances as relevant aetiology. Umbrella methodology is the highest level of scientific evidence, designed to support clinical and political decisions. A literature search for autism aetiology, pathophysiology, or causes, conducted in the last 10 years, at PubMed, Embase, Cochrane, Scopus, and the Web of Science, resulted in six umbrella reviews. Nevertheless, only one quantitative analysis reported risk factors and biomarkers but excluded genetics, experiments on animal models, and post-mortem studies. We grouped ASD’s multi-factorial causes and risks into five etiological categories: genetic, epigenetic, organic, psychogenic, and environmental. Findings suggest that autism might be evaluated as a systemic disorder instead of only through the lens of mental and behavioural. The overview implications of included studies will be qualitatively analysed under ROBIS and GRADE tools. This umbrella review can provide a rational basis for a new urgent health policy to develop better and adequate integrated care services for ASD. The methodological protocol has the register CRD42022348586 at PROSPERO.

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16. Lyons-Warren AM, Wangler MF, Wan YW. Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder. International journal of molecular sciences. 2022; 23(21).

Autism spectrum disorder is a common, heterogeneous neurodevelopmental disorder lacking targeted treatments. Additional features include restricted, repetitive patterns of behaviors and differences in sensory processing. We hypothesized that detailed sensory features including modality specific hyper- and hypo-sensitivity could be used to identify clinically recognizable subgroups with unique underlying gene variants. Participants included 378 individuals with a clinical diagnosis of autism spectrum disorder who contributed Short Sensory Profile data assessing the frequency of sensory behaviors and whole genome sequencing results to the Autism Speaks’ MSSNG database. Sensory phenotypes in this cohort were not randomly distributed with 10 patterns describing 43% (162/378) of participants. Cross comparison of two independent cluster analyses on sensory responses identified six distinct sensory-based subgroups. We then characterized subgroups by calculating the percent of patients in each subgroup who had variants with a Combined Annotation Dependent Depletion (CADD) score of 15 or greater in each of 24,896 genes. Each subgroup exhibited a unique pattern of genes with a high frequency of variants. These results support the use of sensory features to identify autism spectrum disorder subgroups with shared genetic variants.

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17. Machalicek W, Glugatch L, Erturk B, Brafford T, Kunze M, Drew C, Douglas A, Storie S, Crowe R, Magaña S. Recommendations for Diversifying Racial and Ethnic Representation in Autism Intervention Research: A Crossover Review of Recruitment and Retention Practices in Pediatric Mental Health. Journal of clinical medicine. 2022; 11(21).

Disparities in diagnosis and access to healthcare and therapeutic services are well-documented for children with autism spectrum disorder (ASD) from minoritized races and ethnicities, but there is little empirical research to guide the selection and implementation of interventions and practices that will effectively support racially/ethnically diverse children with ASD and their families. This cross-over systematic review summarizes parent-mediated intervention research of children with or at risk for mental health disorders to identify potentially effective recruitment and retention strategies for diverse participants in parent-mediated intervention research for children with autism. Electronic database keyword, lead author name searches in PyschNet, MEDLINE, and ancestral searches were conducted to identify 68 relevant articles that used experimental designs to evaluate the effects of parent-mediated interventions on children with or at risk for mental health disorders. Articles were coded for participant demographics; intervention setting and type, recruitment and retention strategies, cultural adaptation of intervention, and reported attrition. Findings are discussed and applied to practices in autism parent-mediated intervention research. Suggestions for future research and limitations are discussed.

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18. Madley-Dowd P, Dardani C, Wootton RE, Dack K, Palmer T, Thurston R, Havdahl A, Golding J, Lawlor D, Rai D. Maternal vitamin D during pregnancy and offspring autism and autism-associated traits: a prospective cohort study. Molecular autism. 2022; 13(1): 44.

BACKGROUND: There has been a growing interest in the association between maternal levels of vitamin D during pregnancy and offspring autism. However, whether any associations reflect causal effects is still inconclusive. METHODS: We used data from a UK-based pregnancy cohort study (Avon Longitudinal Study of Parents and Children) comprising 7689 births between 1991 and 1992 with maternal blood vitamin D levels recorded during pregnancy and at least one recorded outcome measure, including autism diagnosis and autism-associated traits. The association between each outcome with seasonal and gestational age-adjusted maternal serum 25-hydroxyvitamin D during pregnancy was estimated using confounder-adjusted regression models. Multiple imputation was used to account for missing data, and restricted cubic splines were used to investigate nonlinear associations. Mendelian randomization was used to strengthen causal inference. RESULTS: No strong evidence of an association between maternal serum 25-hydroxyvitamin D during pregnancy and any offspring autism-associated outcome was found using multivariable regression analysis (autism diagnosis: adjusted OR = 0.98, 95% CI = 0.90-1.06), including with multiple imputation (autism diagnosis: adjusted OR = 0.99, 95% CI = 0.93-1.06), and no evidence of a causal effect was suggested by Mendelian randomization (autism diagnosis: causal OR = 1.08, 95% CI = 0.46-2.55). Some evidence of increased odds of autism-associated traits at lower levels of maternal serum 25-hydroxyvitamin D was found using spline analysis. LIMITATIONS: Our study was potentially limited by low power, particularly for diagnosed autism cases as an outcome. The cohort may not have captured the extreme lows of the distribution of serum 25-hydroxyvitamin D, and our analyses may have been biased by residual confounding and missing data. CONCLUSIONS: The present study found no strong evidence of a causal link between maternal vitamin D levels in pregnancy and offspring diagnosis or traits of autism.

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19. Maggio MG, Calatozzo P, Cerasa A, Pioggia G, Quartarone A, Calabrò RS. Sex and Sexuality in Autism Spectrum Disorders: A Scoping Review on a Neglected but Fundamental Issue. Brain sciences. 2022; 12(11).

ASD consists of a set of permanent neurodevelopmental conditions, which are studded with social and communication differences, limited interests, and repetitive behaviors. Individuals with ASD have difficulty reading eye gestures and expressions, and may also have stereotyped or repetitive language, excessive adherence to routines, fixed interests, and rigid thinking. However, sexuality in adolescents and young adults with ASD is still a poorly studied and neglected issue. This review aims to evaluate sexual function and behavior in individuals with ASD to foster a greater understanding of this important, although often overlooked, issue. This review was conducted by searching peer-reviewed articles published between 01 June 2000 and 31 May 2022 using the following databases: PubMed, Embase, Cochrane Database, and Web of Science. A comprehensive search was conducted using the terms: « Autism » OR « ASD » AND « Sexuality » OR « Romantic relation » OR « sexual behavior » AND/OR « sexual awareness ». After an accurate revision of 214 full manuscripts, 11 articles satisfied the inclusion/exclusion criteria. This review found that, although individuals with ASD may have sexual functioning, their sexuality is characterized by higher prevalence rates of gender dysphoria and inappropriate sexual behavior. Furthermore, sexual awareness is reduced in this patient population, and the prevalence of other variants of sexual orientation (i.e., homosexuality, asexuality, bisexuality, etc.) is higher in adolescents with ASD than in non-autistic peers. Sexual health and education should be included in the care path of patients with ASD in order to improve their quality of life and avoid/reduce inappropriate and risky behaviors.

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20. McConkey R. Responding to Autism in Low and Middle Income Countries (LMIC): What to Do and What Not to Do. Brain sciences. 2022; 12(11).

Autism is a spectrum disorder that occurs globally with increasing numbers of children and adults being identified with this condition. Although rates are higher in more affluent nations, the bulk of people with autism reside in Low and Middle Income Countries (LMICs). However, most do not have access to timely and appropriate support. The types of services delivered in high income countries are often ill-suited to the needs and resources of LMICs. Rather alternative forms of provision need to be devised. In common with other public health initiatives, these should be family-focused and community based, with suitably qualified and experienced leaders who in turn train and supervise a cadre of knowledgeable support workers drawn from local communities and cultures. As well as providing personalized, home-based guidance to people with autism and to their primary carers, regular group-based advocacy and training activities are undertaken in partnership with available mainstream services such as schools and social services. The principles and operations of these new forms of services are described in this paper albeit with an acknowledgment of their limitations. In recent decades, the cost-effectiveness of these approaches have been demonstrated with other chronic illnesses and disabling conditions in LMICs but their extension to autism has barely begun. More affluent countries are being forced to adopt similar strategies in response to the increased numbers of people identified with autism. A transformation in research strategies is essential to building better international support for persons with autism.

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21. Meyer-Lindenberg H, Moessnang C, Oakley B, Ahmad J, Mason L, Jones EJH, Hayward HL, Cooke J, Crawley D, Holt R, Tillmann J, Charman T, Baron-Cohen S, Banaschewski T, Beckmann C, Tost H, Meyer-Lindenberg A, Buitelaar JK, Murphy DG, Brammer MJ, Loth E. Facial expression recognition is linked to clinical and neurofunctional differences in autism. Molecular autism. 2022; 13(1): 43.

BACKGROUND: Difficulties in social communication are a defining clinical feature of autism. However, the underlying neurobiological heterogeneity has impeded targeted therapies and requires new approaches to identifying clinically relevant bio-behavioural subgroups. In the largest autism cohort to date, we comprehensively examined difficulties in facial expression recognition, a key process in social communication, as a bio-behavioural stratification biomarker, and validated them against clinical features and neurofunctional responses. METHODS: Between 255 and 488 participants aged 6-30 years with autism, typical development and/or mild intellectual disability completed the Karolinska Directed Emotional Faces task, the Reading the Mind in the Eyes Task and/or the Films Expression Task. We first examined mean-group differences on each test. Then, we used a novel intersection approach that compares two centroid and connectivity-based clustering methods to derive subgroups based on the combined performance across the three tasks. Measures and subgroups were then related to clinical features and neurofunctional differences measured using fMRI during a fearful face-matching task. RESULTS: We found significant mean-group differences on each expression recognition test. However, cluster analyses showed that these were driven by a low-performing autistic subgroup (~ 30% of autistic individuals who performed below 2SDs of the neurotypical mean on at least one test), while a larger subgroup (~ 70%) performed within 1SD on at least 2 tests. The low-performing subgroup also had on average significantly more social communication difficulties and lower activation in the amygdala and fusiform gyrus than the high-performing subgroup. LIMITATIONS: Findings of autism expression recognition subgroups and their characteristics require independent replication. This is currently not possible, as there is no other existing dataset that includes all relevant measures. However, we demonstrated high internal robustness (91.6%) of findings between two clustering methods with fundamentally different assumptions, which is a critical pre-condition for independent replication. CONCLUSIONS: We identified a subgroup of autistic individuals with expression recognition difficulties and showed that this related to clinical and neurobiological characteristics. If replicated, expression recognition may serve as bio-behavioural stratification biomarker and aid in the development of targeted interventions for a subgroup of autistic individuals.

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22. Monteiro CE, Da Silva E, Sodré R, Costa F, Trindade AS, Bunn P, Costa ESG, Di Masi F, Dantas E. The Effect of Physical Activity on Motor Skills of Children with Autism Spectrum Disorder: A Meta-Analysis. International journal of environmental research and public health. 2022; 19(21).

OBJECTIVE: The present study was aimed at analyzing the effect of physical activity on motor coordination in children with ASD. METHODS: On 28 June 2021, a systematic review with meta-analysis was performed using the following databases: MEDLINE, SciELO, LILACS, PEDro, SPORTDiscus, CINAHL, SCOPUS, Web of Science, Cochrane, and Science Direct. We analyzed the methodological quality and risk of bias using the Jadad scale and Cochrane tool, respectively. Motor coordination results were meta-analyzed using the RevMan program. Two independent researchers used the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) tool to assess the level of evidence from the meta-analysis. RESULTS: We found four studies in the listed databases and five randomized clinical trials were included in the meta-analysis that included 109 children with ASD. Children with ASD who performed physical activity did not present significantly better motor coordination than control children (p = 0.12). CONCLUSIONS: Considering the clinical importance of physical activity for children with ASD, this systematic review with meta-analysis showed that physical activity had no statistically significant effects on coordination in individuals with ASD.

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23. Moseley RL, Gregory NJ, Smith P, Allison C, Cassidy S, Baron-Cohen S. Non-suicidal self-injury and its relation to suicide through acquired capability: investigating this causal mechanism in a mainly late-diagnosed autistic sample. Molecular autism. 2022; 13(1): 45.

BACKGROUND: Non-suicidal self-injury (NSSI) has been linked with a higher risk of suicide attempts in autistic and non-autistic people. In the general population, NSSI may confer acquired capability for suicide by eroding one’s fear and avoidance of pain and death. The present study aimed to explore acquired capability as the mediator of increased suicide risk conferred by NSSI in autistic and non-autistic adults. METHODS: Autistic and non-autistic adults (n = 314, n = 312) completed an online survey exploring lifetime suicide attempts, experience with NSSI, and acquired capability for suicide. We explored relationships between lifetime incidence of NSSI and lifetime suicide attempts via three facets of acquired capability (pain tolerance, reduced fear of death, and mental rehearsal of suicide). In self-harming participants (224 autistic and 156 non-autistic), we explored whether particular types and features of NSSI might be especially associated with capability and through that with suicide: namely engagement in scratching, cutting, and self-hitting, and engaging in more numerous forms of NSSI. RESULTS: While a higher frequency of NSSI was associated with all three facets of acquired capability, only reduced fear of death and mental rehearsal of suicide mediated an indirect relationship with lifetime suicide attempts. NSSI also directly predicted more numerous suicide attempts. Autistic people tended towards reduced fear of death and mental rehearsal regardless of NSSI status. Among self-harming autistic and non-autistic participants, cutting and an increased number of NSSI behaviours were associated with lifetime suicide attempts directly and indirectly via acquired capability. In both groups, self-hitting was associated with lifetime suicide attempts only via acquired capability. LIMITATIONS: Our cross-sectional methodology negates inferences of directionality. While we controlled for age, our samples were poorly matched, with the autistic group two times older on average. The autistic sample, predominantly late-diagnosed, female and highly qualified, were unrepresentative of the whole autistic community. CONCLUSIONS: Our data suggest that acquired capability, as measured herein, is an incomplete explanation for the association between NSSI and suicide risk. A broader construct with stable and transient facets may offer greater explanatory power, but it is probable that other variables explain or provide additional means through which this association arises.

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24. Moshirian Farahi SMM, Leth-Steensen C. Development of a novel, theoretically motivated scale to assess cognitive learning styles related to the autism spectrum. BMC psychiatry. 2022; 22(1): 696.

BACKGROUND: Although theoretical efforts have been made to address the cognitive learning styles of individuals on the autism spectrum, no instrument to measure such learning styles is currently available. The current study aimed to develop such a scale based on the learning style theory of Qian and Lipkin (Front Hum Neurosci 5:77, 2011). METHODS: Response data from total of 768 undergraduate students was used for this study. This sample was split into two subsamples of N = 460 and N = 308 for exploratory factor analysis (EFA) and confirmatory factor analysis (CFA), respectively. The correlations between the resulting new subscales and some other potentially related measures were examined. RESULTS: A three-factor structure with 19 items was obtained measuring need for task clarity/familiarity, susceptibility to cognitive load, and the grasping of conceptual relations. CONCLUSIONS: This newly developed measure can be used to help understand the nature of the individual differences in cognitive processing that are evident across both the autism spectrum as well as the overall population more generally.

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25. Nakhal MM, Aburuz S, Sadek B, Akour A. Repurposing SGLT2 Inhibitors for Neurological Disorders: A Focus on the Autism Spectrum Disorder. Molecules (Basel, Switzerland). 2022; 27(21).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a substantially increasing incidence rate. It is characterized by repetitive behavior, learning difficulties, deficits in social communication, and interactions. Numerous medications, dietary supplements, and behavioral treatments have been recommended for the management of this condition, however, there is no cure yet. Recent studies have examined the therapeutic potential of the sodium-glucose cotransporter 2 (SGLT2) inhibitors in neurodevelopmental diseases, based on their proved anti-inflammatory effects, such as downregulating the expression of several proteins, including the transforming growth factor beta (TGF-β), interleukin-6 (IL-6), C-reactive protein (CRP), nuclear factor κB (NF-κB), tumor necrosis factor alpha (TNF-α), and the monocyte chemoattractant protein (MCP-1). Furthermore, numerous previous studies revealed the potential of the SGLT2 inhibitors to provide antioxidant effects, due to their ability to reduce the generation of free radicals and upregulating the antioxidant systems, such as glutathione (GSH) and superoxide dismutase (SOD), while crossing the blood brain barrier (BBB). These properties have led to significant improvements in the neurologic outcomes of multiple experimental disease models, including cerebral oxidative stress in diabetes mellitus and ischemic stroke, Alzheimer’s disease (AD), Parkinson’s disease (PD), and epilepsy. Such diseases have mutual biomarkers with ASD, which potentially could be a link to fill the gap of the literature studying the potential of repurposing the SGLT2 inhibitors’ use in ameliorating the symptoms of ASD. This review will look at the impact of the SGLT2 inhibitors on neurodevelopmental disorders on the various models, including humans, rats, and mice, with a focus on the SGLT2 inhibitor canagliflozin. Furthermore, this review will discuss how SGLT2 inhibitors regulate the ASD biomarkers, based on the clinical evidence supporting their functions as antioxidant and anti-inflammatory agents capable of crossing the blood-brain barrier (BBB).

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26. Neuhaus E, Osuna A, Tagavi DM, Shah-Hosseini S, Simmons S, Gerdts J, Thompson AD. Clinical Characteristics of Youth with Autism or Developmental Disability during Inpatient Psychiatric Admission. Journal of clinical medicine. 2022; 11(21).

Children with autism spectrum disorder and developmental disabilities (ASD/DD) often experience severe co-occurring psychological and behavioral challenges, which can warrant inpatient psychiatric care. However, very little is known about the characteristics and clinical care of children with ASD/DD within the context of inpatient psychiatric settings. In this paper, we describe factors unique to inpatients with ASD or DD, by drawing on electronic health records from over 2300 children and adolescents ages 4-17 years admitted to a pediatric psychiatric inpatient unit over a 3-year period. Patients with ASD/DD accounted for approximately 16% of inpatients and 21% of admissions, were younger, more likely to be readmitted, more likely to be male, and more likely to have Medicaid insurance, as compared to patients without ASD/DD. Clinically, those with ASD/DD more frequently had externalizing concerns documented in their records, in contrast to more frequent internalizing concerns among other patients. Within the ASD/DD group, we identified effects of patient age, sex, and race/ethnicity on multiple dimensions of clinical care, including length of stay, use of physical restraint, and patterns of medication use. Results suggest the need for psychiatric screening tools that are appropriate for ASD/DD populations, and intentional integration of anti-racist practices into inpatient care, particularly with regard to use of physical restraint among youth.

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27. Nirmalkar K, Qureshi F, Kang DW, Hahn J, Adams JB, Krajmalnik-Brown R. Shotgun Metagenomics Study Suggests Alteration in Sulfur Metabolism and Oxidative Stress in Children with Autism and Improvement after Microbiota Transfer Therapy. International journal of molecular sciences. 2022; 23(21).

Links between gut microbiota and autism spectrum disorder (ASD) have been explored in many studies using 16S rRNA gene amplicon and shotgun sequencing. Based on these links, microbiome therapies have been proposed to improve gastrointestinal (GI) and ASD symptoms in ASD individuals. Previously, our open-label microbiota transfer therapy (MTT) study provided insight into the changes in the gut microbial community of children with ASD after MTT and showed significant and long-term improvement in ASD and GI symptoms. Using samples from the same study, the objective of this work was to perform a deeper taxonomic and functional analysis applying shotgun metagenomic sequencing. Taxonomic analyses revealed that ASD Baseline had many bacteria at lower relative abundances, and their abundance increased after MTT. The relative abundance of fiber consuming and beneficial microbes including Prevotella (P. dentalis, P. enoeca, P. oris, P. meloninogenica), Bifidobacterium bifidum, and a sulfur reducer Desulfovibrio piger increased after MTT-10wks in children with ASD compared to Baseline (consistent at genus level with the previous 16S rRNA gene study). Metabolic pathway analysis at Baseline compared to typically developing (TD) children found an altered abundance of many functional genes but, after MTT, they became similar to TD or donors. Important functional genes that changed included: genes encoding enzymes involved in folate biosynthesis, sulfur metabolism and oxidative stress. These results show that MTT treatment not only changed the relative abundance of important genes involved in metabolic pathways, but also seemed to bring them to a similar level to the TD controls. However, at a two-year follow-up, the microbiota and microbial genes shifted into a new state, distinct from their levels at Baseline and distinct from the TD group. Our current findings suggest that microbes from MTT lead to initial improvement in the metabolic profile of children with ASD, and major additional changes at two years post-treatment. In the future, larger cohort studies, mechanistic in vitro experiments and metatranscriptomics studies are recommended to better understand the role of these specific microbes, functional gene expression, and metabolites relevant to ASD.

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28. O’Hagan B, Krauss SB, Friedman AJ, Bartolotti L, Abubakare O, Broder-Fingert S, Augustyn M. Identifying Components of Autism Friendly Health Care: An Exploratory Study Using a Modified Delphi Method. Journal of developmental and behavioral pediatrics : JDBP. 2022.

OBJECTIVES: Autistic individuals report lower health care satisfaction. However, there is currently no set of « best practice » standards about caring for autistic individuals. In this exploratory study, we aim to identify features of Autism Friendly practice according to a sample consisting of mainly professionals whose interests include autism using a modified 3-round Delphi-a method that identifies a consensus view across subject participants. METHODS: Statements about components of an Autism Friendly health care practice were compiled in consultation with the steering committee of an Autism Friendly Initiative at a single, urban academic safety-net hospital. Participants were recruited through our national network of professionals and patients/families mailing list. Examples of invited professionals included researchers, health care workers, and educators. In the first 2 rounds, we distributed electronic surveys to participants, who scored statements from 1 to 9 regarding importance. In round 2, statements that were scored low by all stakeholder groups were eliminated. Seventy-eight participants responded to the first-round survey, and 51 participants responded to the second-round survey. In the third round, 38 participants ranked 16 statements from most to least important. Statements are summarized and presented in the Results section. RESULTS: Topics that emerged from highly ranked statements include environmental/operational modifications (e.g., longer appointment times) and staff training to support autistic patients. CONCLUSION: Highly ranked statements represented previously reported barriers, including the need for staff training and inclusive engagement with the autistic community. The findings can help inform health care organizations to determine priorities when building an Autism Friendly health care practice.

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29. Reynolds K, Chandio N, Chimoriya R, Arora A. The Effectiveness of Sensory Adaptive Dental Environments to Reduce Corresponding Negative Behaviours and Psychophysiology Responses in Children and Young People with Intellectual and Developmental Disabilities: A Protocol of a Systematic Review and Meta-Analysis. International journal of environmental research and public health. 2022; 19(21).

People with Intellectual and Developmental Disabilities (IDDs) are disproportionately vulnerable to poorer oral health due to their complex needs specifically sensory processing difficulties. This leads to increased maladaptive behaviours and psychophysiology responses of dental anxiety amplified by the overstimulating aspects of the dental environment. Although, there is a growing body of evidence to suggest that sensory adaptions are an effective strategy for individuals with IDDs in a wide range of settings, there is a lack of high-quality evidence detailing the effectiveness in a dental setting. The objective of this review is to assess the effectiveness of sensory adaptive dental environments (SADE) to reduce dental anxiety, corresponding negative behaviours and psychophysiology responses in children and young people with IDDs. The systematic review will include all Randomized Controlled Trials (RCTs) that investigate the effectiveness of SADE compared to control (no intervention), waitlist or usual care (regular dental environment) to reduce dental anxiety and the corresponding negative behaviours and psychophysiology responses in children and young people (upto the ages of 24 years) with IDDs. This review will be conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Databases including MEDLINE (Ovid), The Cochrane Library, Embase, Google Scholar, Web of Science and OT Seeker will be searched using appropriate keywords. Additionally, citation searching will be conducted. Screening based on titles and abstracts will be done after de-duplication, followed by full-text reading for selection based on the inclusion criteria. Data extracted from the included studies will be tabulated and assessed for risk of bias. If applicable, a meta-analysis of the pooled data will be conducted. The review is registered with PROSPERO (CRD42022322083).

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30. Rosen NE, Schiltz HK, Lord C. Teacher- and parent-reported trajectories of maladaptive behaviors among individuals with autism and non-spectrum delays. Autism research : official journal of the International Society for Autism Research. 2022.

People with autism spectrum disorder (ASD) and non-spectrum developmental delays frequently exhibit maladaptive behaviors throughout the lifespan, which can have pervasive effects on quality of life. Maladaptive behaviors have been shown to change over time as a function of various individual-level factors (e.g., cognitive ability), yet research is primarily limited to parent-reported measures. To expand upon this work, the present study aimed to examine trajectories of teacher- and parent-reported maladaptive behaviors (i.e., hyperactivity, irritability, social withdrawal) and to test whether individual-level predictors (e.g., autism features, verbal intelligence quotient) and school-related predictors (e.g., teacher type, student-adult ratio, personal aide, school type) impact these trajectories among 165 individuals with ASD or non-spectrum delays from ages 9 to 18. Multilevel models revealed that, according to both teacher and parent report, participants showed the greatest improvement in hyperactivity, less but still notable improvement in irritability, and stable levels of social withdrawal over time. Higher verbal ability and fewer ASD features, in addition to mainstream school placement, emerged as important individual- and school-related differences associated with fewer maladaptive behaviors over time. The multi-informant perspective and longitudinal design provide novel insight into the manifestations of these maladaptive behaviors across different contexts and across time. Findings highlight the consistency of teacher- and parent-reported trajectories over time and further emphasize the importance of targeting maladaptive behaviors using a multisystem intervention approach in both school and home contexts.

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31. Samadi SA. The Challenges of Establishing Healthcare Services in Low- and Middle-Income Countries: The Case of Autism Spectrum Disorders (ASD) in the Kurdistan Region of Iraq-Report from the Field. Brain sciences. 2022; 12(11).

The present report from the field tries to present challenges associated with establishing healthcare services for individuals with autism spectrum disorders (ASD) in a low- and middle-income area. The given case that has been highlighted is establishing daycare services focusing on rehabilitation and training services for individuals with ASD, and their caregivers and family members, in the Kurdistan Region of Iraq (KRI). Based on my experience, the associated challenges are divided into three primary levels: personal, professional, and organizational. The report highlights the importance of understanding the challenges associated with establishing healthcare services with the desire to put them under control. Plus, understanding the cultural aspects of the healthcare services for individuals with ASD experiences to address the issues at each level shared. It is concluded in the final part of the report that the key to establishing healthcare quality is to understand attitudes toward healthcare at the personal, professional, and organizational levels. This attitude determines the expectation from the services and defines assistance-seeking behaviors. Results offer insight for stakeholders in the healthcare field, allowing for a better understanding and improvement of availability and access to quality-driven healthcare services. A pre- and in-service training approach is practiced to address the associated challenges of establishing healthcare services at the personal level in KRI. A similar policy might be applicable in other LMICs, where there is a lack of professional and skillful healthcare service providers.

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32. Shea LL, Wong MY, Song W, Kaplan K, Uppal D, Salzer MS. Autistic-Delivered Peer Support: A Feasibility Study. Journal of autism and developmental disorders. 2022: 1-14.

Peer support has been an undeveloped pathway for filling the service gap and to generate employment opportunities for autistic individuals. Peer supports have been deployed widely in mental health and among veterans and understanding the utility of this service modality among autistic individuals illuminates opportunities for research, policy, and practice. This study examined characteristics of participants in an autistic-delivered peer support program and reports on use of and satisfaction with the program. Half of autistic participants had a co-occurring mental health diagnosis. Participants reported multiple areas of unmet needs and participant satisfaction with the program was high (90%). The findings of this study point toward autistic-delivered peer support as a promising avenue for future development.

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33. Speranza L, Filiz KD, Goebel S, Perrone-Capano C, Pulcrano S, Volpicelli F, Francesconi A. Combined DiI and Antibody Labeling Reveals Complex Dysgenesis of Hippocampal Dendritic Spines in a Mouse Model of Fragile X Syndrome. Biomedicines. 2022; 10(11).

Structural, functional, and molecular alterations in excitatory spines are a common hallmark of many neurodevelopmental disorders including intellectual disability and autism. Here, we describe an optimized methodology, based on combined use of DiI and immunofluorescence, for rapid and sensitive characterization of the structure and composition of spines in native brain tissue. We successfully demonstrate the applicability of this approach by examining the properties of hippocampal spines in juvenile Fmr1 KO mice, a mouse model of Fragile X Syndrome. We find that mutant mice display pervasive dysgenesis of spines evidenced by an overabundance of both abnormally elongated thin spines and cup-shaped spines, in combination with reduced density of mushroom spines. We further find that mushroom spines expressing the actin-binding protein Synaptopodin-a marker for spine apparatus-are more prevalent in mutant mice. Previous work identified spines with Synaptopodin/spine apparatus as the locus of mGluR-LTD, which is abnormally elevated in Fmr1 KO mice. Altogether, our data suggest this enhancement may be linked to the preponderance of this subset of spines in the mutant. Overall, these findings demonstrate the sensitivity and versatility of the optimized methodology by uncovering a novel facet of spine dysgenesis in Fmr1 KO mice.

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34. Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D’Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 2022; 185(23): 4409-27.e18.

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic.

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35. Zhou L, Zhang L, Xu Y, Yang F, Benson V. Attentional Engagement and Disengagement Differences for Circumscribed Interest Objects in Young Chinese Children with Autism. Brain sciences. 2022; 12(11).

The current study aimed to investigate attentional processing differences for circumscribed interest (CI) and non-CI objects in young Chinese children with autism spectrum condition (ASC) and typically developing (TD) controls. In Experiment 1, a visual preference task explored attentional allocation to cartoon CI and non-CI materials between the two groups. We found that ASC children (n = 22, 4.95 ± 0.59 years) exhibited a preference for CI-related objects compared to non-CI objects, and this effect was absent in the TD children (n = 22, 5.14 ± 0.44 years). Experiment 2 utilized the traditional gap-overlap paradigm (GOP) to investigate attentional disengagement from CI or non-CI items in both groups (ASC: n = 20, 5.92 ± 1.13 years; TD: n = 25, 5.77 ± 0.77 years). There were no group or stimulus interactions in this study. Experiment 3 adopted a modified GOP (MGOP) to further explore disengagement in the two groups (ASC: n = 20, 5.54 ± 0.95 years; TD: n = 24, 5.75 ± 0.52 years), and the results suggested that exogenous disengagement performance was preserved in the ASC group, but the children with ASC exhibited increased endogenous attentional disengagement compared to TD peers. Moreover, endogenous disengagement was influenced further in the presence of CI-related objects in the ASC children. The current results have implications for understanding how the nature of engagement and disengagement processes can contribute to differences in the development of core cognitive skills in young children with ASC.

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