1. Aithal S, Karkou V, Makris S, Karaminis T, Powell J. Supporting the wellbeing of caregivers of children on the autism spectrum: A qualitative report on experiences of attending group dance movement psychotherapy. PLoS One;2023;18(8):e0288626.

Caregivers of children on the autism spectrum can carry a significant amount of practical, psychological, and social demands and responsibilities that are highly stressful. A group Dance Movement Psychotherapy (DMP) was offered to facilitate the wellbeing of caregivers. In this article, we explore the experiences of the therapeutic processes and outcomes of the intervention from the perspectives of caregivers, the therapist, and the researcher/co-facilitator. METHOD: Four clusters of caregivers of children on the autism spectrum (N = 20 Mean age = 39.25 years) took part in five group DMP sessions lasting 90 minutes delivered across two special educational needs settings. Twenty reflective focus groups took place in total, with each taking place at the end of each DMP session. Participants were invited to capture their experiences through arts-based drawings, while therapist and participating researcher/co-facilitator kept session-based notes and arts-based reflections. These arts-based and verbal data were grouped to generate themes. RESULTS: Six overarching themes emerged from the arts-based and verbal data with multiple subthemes that describe the contribution of DMP towards promoting caregivers’ wellbeing and identified key challenges in implementing the intervention. These themes are: (1) Beholding within and around; (2) Reflecting and reinforcing strengths; (3) Exchanging views; (4) Looking back and carrying forward; (5) Core benefits; and (6) Challenges to engage in DMP. CONCLUSION: Caregivers talked about their experience of participating in the DMP groups as positive and acknowledged the helpful and challenging aspects of taking part in DMP intervention. They appreciated the creative and expressive nature of the intervention to promote their emotional and social wellbeing. The challenges identified in the study indicate that further awareness is needed within school environments about the contribution arts therapies can make towards establishing appropriate and sustainable interventions for caregivers.

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2. Brauer B, Merino-Veliz N, Ahumada-Marchant C, Arriagada G, Bustos FJ. KMT2C knockout generates ASD-like behaviors in mice. Front Cell Dev Biol;2023;11:1227723.

Neurodevelopmental disorders have been associated with genetic mutations that affect cellular function, including chromatin regulation and epigenetic modifications. Recent studies in humans have identified mutations in KMT2C, an enzyme responsible for modifying histone tails and depositing H3K4me1 and H3K4me3, as being associated with Kleefstra syndrome 2 and autism spectrum disorder (ASD). However, the precise role of KMT2C mutations in brain disorders remains poorly understood. Here we employed CRISPR/Cas9 gene editing to analyze the effects of KMT2C brain specific knockout on animal behavior. Knocking out KMT2C expression in cortical neurons and the mouse brain resulted in decreased KMT2C levels. Importantly, KMT2C brain specific knockout animals exhibited repetitive behaviors, social deficits, and intellectual disability resembling ASD. Our findings shed light on the involvement of KMT2C in neurodevelopmental processes and establish a valuable model for elucidating the cellular and molecular mechanisms underlying KMT2C mutations and their relationship to Kleefstra syndrome 2 and ASD.

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3. Deb S, Roy M, Limbu B, Akrout Brizard B, Murugan M, Roy A, Santambrogio J. Randomised controlled trials of antipsychotics for people with autism spectrum disorder: a systematic review and a meta-analysis. Psychol Med;2023 (Aug 4):1-9.

BACKGROUND: Despite unclear evidence to support the long-term use of antipsychotics to treat challenging (problem) behaviours in people with autism in the absence of a psychiatric disorder, this practice is common. METHODS: We conducted a systematic review and meta-analysis of all randomised controlled trials (RCTs) involving antipsychotics for people with autism of all ages, irrespective of the outcomes assessed. We searched seven databases and hand-searched ten relevant journals. Two authors independently screened titles, abstracts and full papers and extracted data using the Cochrane Handbook template. We conducted meta-analyses of outcomes and the rate of adverse events. RESULTS: We included 39 papers based on 21 primary RCTs that recruited 1482 people with autism. No RCT assessed any psychiatric disorder outcome, such as psychoses or bipolar disorder. A meta-analysis of ten placebo-controlled RCTs showed a significantly improved Aberrant Behaviour Checklist-Irritability score in the antipsychotic group with an effect size of -6.45 [95% confidence interval (CI) -8.13 to -4.77] (low certainty). Pooled Clinical Global Impression data on 11 placebo-controlled RCTs showed an overall effect size of 0.84 (95% CI 0.48 to 1.21) (moderate certainty). There was a significantly higher risk of overall adverse effects (p = 0.003) and also weight gain (p < 0.00001), sedation (p < 0.00001) and increased appetite (p = 0.001) in the antipsychotic group. CONCLUSIONS: There is some evidence for risperidone and preliminary evidence for aripiprazole to significantly improve scores on some outcome measures among children with autism but not adults or for any other antipsychotics. There is a definite increased risk of antipsychotic-related different adverse effects.

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4. Environmental, Public Health JO. Retracted: Comprehensive Intervention and Effect of Martial Arts Routines on Children with Autism. J Environ Public Health;2023;2023:9763140.

[This retracts the article DOI: 10.1155/2022/9350841.].

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5. Environmental, Public Health JO. Retracted: Study on the Influence of Urban Built Environment Factors on the Social Behavior of ASD Children. J Environ Public Health;2023;2023:9837945.

[This retracts the article DOI: 10.1155/2022/8963416.].

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6. Faruk MO, Rahman MS, Rana MS, Mahmud S, Al-Neyma M, Karim MS, Alam N. Socioeconomic and demographic risk factors of autism spectrum disorder among children and adolescents in Bangladesh: Evidence from a cross-sectional study in 2022. PLoS One;2023;18(8):e0289220.

Autism spectrum disorder (ASD) is the assorted uneven conditions of the human brain that lead to developmental disabilities. This cross-sectional study aimed to identify the substantial risk factors of ASD among children in Bangladesh. The data were collected using convenience sampling through a questionnaire filled up by the trained interviewers. Mann-Whitney U and Kruskal-Wallis H tests were applied as bivariate analysis, and generalized beta regression was performed to determine the significant risk factors of autism spectrum disorder. The odds ratio (OR) along with 95% confidence interval (CI) were the measuring parameters of the risk factors of ASD. The result revealed that later birth order children have more risk of ASD (OR = 1.13, CI: 1.014-1.264, p = 0.027) compared to the children whose birth order is first. Premature birth of the child (OR: 0.87, CI: 0.76-1.00, p = 0.05) and father’s age (OR: 0.86, CI: 0.76-0.97, p = 0.020) substantially affects ASD. The maternal history of specific illness (diabetes, thyroiditis, and hypertension) during pregnancy also significantly affect ASD (OR: 1.34, CI: 1.14-1.61, p = 0.002). The results of this study would assist policymakers in taking necessary steps to reduce the incidence of this disorder by targeting the potential risk factors.

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7. Friedman C. Medicaid Home- and Community-Based Services Waivers for People With Intellectual and Developmental Disabilities. Intellect Dev Disabil;2023 (Aug 1);61(4):269-279.

Medicaid Home- and Community-Based Services (HCBS) 1915(c) waivers are the most prominent funding mechanism for the long-term services and supports (LTSS) of people with intellectual and developmental disabilities (IDD). This study’s aim was to conduct an in-depth national analysis of fiscal year (FY) 2021 HCBS 1915(c) waivers for people with IDD. In FY 2021, over $43.2 billion was projected for the HCBS of 861,038 people with IDD. An average of $47,315 was projected per person with IDD annually. The services that received the most funding were: residential habilitation; supports to live in one’s own home; and day habilitation. HCBS is necessary so people with IDD can live and thrive in their communities.

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8. Fu B, Li S, Lao Z, Yuan B, Liang Y, He W, Sun W, He H. Multi-sensor and multi-platform retrieval of water chlorophyll a concentration in karst wetlands using transfer learning frameworks with ASD, UAV, and Planet CubeSate reflectance data. Sci Total Environ;2023 (Aug 4);901:165963.

China has one of the widest distributions of carbonate rocks in the world. Karst wetland is a special and important ecosystem of carbonate rock regions. Chlorophyll-a (Chla) concentration is a key indicator of eutrophication, and could quantitatively evaluate water quality status of karst wetland. However, the spectral reflectance characteristics of the water bodies of karst wetland are not yet clear, resulting in remote sensing retrieval of Chla with great challenges. This study is a pioneer in utilizing field-based full-spectrum hyperspectral data to reveal the spectral response characteristics of karst wetland water body and determine the sensitive spectral bands of Chla. We further evaluated the Chla retrieval performance of multi-platform spectral data between Analytical Spectral Device (ASD), Unmanned aerial vehicle (UAV), and PlanetScope (Planet). We proposed two multi-sensor weighted integration strategies and two transfer learning frameworks for estimating water Chla from the largest karst wetland in China by combing a partial least square with adaptive ensemble algorithms. The results showed that: (1) In the range of 500-850 nm, the spectral reflectance of water bodies in the karst wetland was overall 0.001-0.105 higher than the inland water bodies, and the sensitive spectral ranges of water Chla focus on 603-778 nm; (2) UAV images outperformed ASD and Planet data, and produced the highest inversion accuracy (R(2) = 0.670) for water Chla in karst wetland; (3) Multi-sensor weighted integration retrieval methods improved the Chla estimation accuracy (R(2) = 0.716). Integration retrieval methods with the different weights produced the better Chla estimation accuracy than that of methods with the equal weights; (4) The transfer learning methods from ASD to UAV platform provided the better retrieval performance (the average R(2) = 0.669) than that of methods from UAV to Planet platform. The transfer learning methods obtained the highest estimation accuracy of Chla (R(2) = 0.814) when the ratio of the training and test data in the target domain was 7:3. The transfer learning methods produced the higher estimation accuracies with the distribution of the absolute residuals between predicted and measured values <20.957 mg/m(3) compared to the multi-sensor weighted integration retrieval methods, which demonstrated that transfer learning is more suitable for estimating Chla in karst wetland water bodies using multi-platform and multi-sensor data. The results provide a scientific basis for the protection and sustainable development of karst wetlands.

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9. Gupta N, Gupta M. Off-Label Psychopharmacological Interventions for Autism Spectrum Disorders: Strategic Pathways for Clinicians. CNS Spectr;2023 (Aug 4):1-46.

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10. Hu L, Du X, Jiang Z, Song C, Liu D. Oxytocin treatment for core symptoms in children with autism spectrum disorder: a systematic review and meta-analysis. Eur J Clin Pharmacol;2023 (Aug 4)

PURPOSE: The purpose of this article is to examine the efficacy of oxytocin in treating core symptoms of autism spectrum disorder (ASD) with children. METHODS: A systematic literature search was conducted to identify randomized controlled trials (RCTs) of oxytocin for the treatment of core symptoms in children with ASD. The search included studies published between January 1, 1999 and March 15, 2023, that were randomized, single or double-blinded, and included a placebo control group. Standard screening rules were applied to select relevant studies, resulting in the inclusion of five RCTs involving 486 children with ASD. RESULTS: Ultimately, a total of five RCTs, involving 486 children with ASD, were included in the review using standard screening rules.One of the included studies demonstrated a statistically significant improvement in Social Responsiveness Scale (SRS) and Repetitive Behavior Scale-Revised (RBS) scores when children with ASD were treated with oxytocin (24 IU/2 days for 6 weeks). The improvement in core symptoms persisted at the 6-month follow-up. The meta-analysis findings suggested that oxytocin might have a moderate effect in improving the core symptom of narrow interests and repetitive stereotyped behaviors in children with ASD. CONCLUSION: While the therapeutic value of oxytocin in treating core symptoms of ASD in children is not fully established, the results of this meta-analysis indicate a potential moderate effect. However, further studies with larger sample sizes and more robust RCTs are needed to directly demonstrate the efficacy of oxytocin. Future research should also focus on effect size and outcome evaluation accuracy while minimizing bias in RCT experiments.

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11. Hudu SA, Elmigdadi F, Qtaitat AA, Almehmadi M, Alsaiari AA, Allahyani M, Aljuaid A, Salih M, Alghamdi A, Alrofaidi MA, Abida, Imran M. Trofinetide for Rett Syndrome: Highlights on the Development and Related Inventions of the First USFDA-Approved Treatment for Rare Pediatric Unmet Medical Need. J Clin Med;2023 (Aug 4);12(15)

Rett syndrome (RTT) is a rare disability causing female-oriented pediatric neurodevelopmental unmet medical need. RTT was recognized in 1966. However, over the past 56 years, the United States Food and Drug Administration (USFDA) has authorized no effective treatment for RTT. Recently, Trofinetide was approved by the USFDA on 10 March 2023 as the first RTT treatment. This article underlines the pharmaceutical advancement, patent literature, and prospects of Trofinetide. The data for this study were gathered from the PubMed database, authentic websites (Acadia Pharmaceuticals, Neuren Pharmaceuticals, and USFDA), and free patent databases. Trofinetide was first disclosed by Neuren Pharmaceuticals in 2000 as a methyl group containing analog of the naturally occurring neuroprotective tripeptide called glycine-proline-glutamate (GPE). The joint efforts of Acadia Pharmaceuticals and Neuren Pharmaceuticals have developed Trofinetide. The mechanism of action of Trofinetide is not yet well established. However, it is supposed to improve neuronal morphology and synaptic functioning. The patent literature revealed a handful of inventions related to Trofinetide, providing excellent and unexplored broad research possibilities with Trofinetide. The development of innovative Trofinetide-based molecules, combinations of Trofinetide, patient-compliant drug formulations, and precise MECP2-mutation-related personalized medicines are foreseeable. Trofinetide is in clinical trials for some neurodevelopmental disorders (NDDs), including treating Fragile X syndrome (FXS). It is expected that Trofinetide may be approved for treating FXS in the future. The USFDA-approval of Trofinetide is one of the important milestones for RTT therapy and is the beginning of a new era for the therapy of RTT, FXS, autism spectrum disorder (ASD), brain injury, stroke, and other NDDs.

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12. Kaiser S, Mathiassen B, Handegård BH, Arnesen Y, Halvorsen MB. Examining the psychometric properties of the Norwegian version of the Social Aptitudes Scale in two clinical samples. BMC Psychol;2023 (Aug 3);11(1):221.

BACKGROUND: Few studies have examined the psychometric properties of the Social Aptitudes Scale (SAS). The study aims of the current paper were to examine the internal consistency and the validity of the Norwegian SAS. METHODS: Parents of children from a clinical neuropediatric sample (N = 257) and from a clinical sample from child and adolescent’s mental health services (N = 804) filled in the SAS. RESULTS: Internal consistency for the SAS were good in both samples and correlations between the SAS and different scales were in the expected directions. The results from the Confirmatory Factor Analyses indicated poor model fit. CONCLUSIONS: Future validity studies should investigate whether SAS is suitable as a screening instrument for detecting autism spectrum disorder.

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13. Lee CYQ, Balasuriya GK, Herath M, Franks AE, Hill-Yardin EL. Impaired cecal motility and secretion alongside expansion of gut-associated lymphoid tissue in the Nlgn3(R451C) mouse model of autism. Sci Rep;2023 (Aug 4);13(1):12687.

Individuals with Autism Spectrum Disorder (ASD; autism) commonly present with gastrointestinal (GI) illness in addition to core diagnostic behavioural traits. The appendix, or cecum in mice, is important for GI homeostasis via its function as a key site for fermentation and a microbial reservoir. Even so, the role of the appendix and cecum in autism-associated GI symptoms remains uninvestigated. Here, we studied mice with an autism-associated missense mutation in the post-synaptic protein neuroligin-3 (Nlgn3(R451C)), which impacts brain and enteric neuronal activity. We assessed for changes in cecal motility using a tri-cannulation video-imaging approach in ex vivo preparations from wild-type and Nlgn3(R451C) mice. We investigated cecal permeability and neurally-evoked secretion in wild-type and Nlgn3(R451C) tissues using an Ussing chamber set-up. The number of cecal patches in fresh tissue samples were assessed and key immune populations including gut macrophages and dendritic cells were visualised using immunofluorescence. Nlgn3(R451C) mice displayed accelerated cecal motor complexes and reduced cecal weight in comparison to wildtype littermates. Nlgn3(R451C) mice also demonstrated reduced neurally-evoked cecal secretion in response to the nicotinic acetylcholine receptor agonist 1,1-dimethyl-4-phenylpiperazinium (DMPP), but permeability was unchanged. We observed an increase in the number of cecal patches in Nlgn3(R451C) mice, however the cellular morphologies of key immune populations studied were not significantly altered. We show that the R451C nervous system mutation leads to cecal dysmotility, impaired secretion, and neuro-immune alterations. Together, these results suggest that the R451C mutation disrupts the gut-brain axis with GI dysfunction in autism.

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14. Lee IH, Walker DI, Lin Y, Smith MR, Mandl KD, Jones DP, Kong SW. Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder. EBioMedicine;2023 (Aug 4);95:104746.

BACKGROUND: Unravelling the relationships between candidate genes and autism spectrum disorder (ASD) phenotypes remains an outstanding challenge. Endophenotypes, defined as inheritable, measurable quantitative traits, might provide intermediary links between genetic risk factors and multifaceted ASD phenotypes. In this study, we sought to determine whether plasma metabolite levels could serve as endophenotypes in individuals with ASD and their family members. METHODS: We employed an untargeted, high-resolution metabolomics platform to analyse 14,342 features across 1099 plasma samples. These samples were collected from probands and their family members participating in the Autism Genetic Resource Exchange (AGRE) (N = 658), compared with neurotypical individuals enrolled in the PrecisionLink Health Discovery (PLHD) program at Boston Children’s Hospital (N = 441). We conducted a metabolite quantitative trait loci (mQTL) analysis using whole-genome genotyping data from each cohort in AGRE and PLHD, aiming to prioritize significant mQTL and metabolite pairs that were exclusively observed in AGRE. FINDINGS: Within the AGRE group, we identified 54 significant associations between genotypes and metabolite levels (P < 5.27 × 10(-)(11)), 44 of which were not observed in the PLHD group. Plasma glutamine levels were found to be associated with variants in the NLGN1 gene, a gene that encodes post-synaptic cell-adhesion molecules in excitatory neurons. This association was not detected in the PLHD group. Notably, a significant negative correlation between plasma glutamine and glutamate levels was observed in the AGRE group, but not in the PLHD group. Furthermore, plasma glutamine levels showed a negative correlation with the severity of restrictive and repetitive behaviours (RRB) in ASD, although no direct association was observed between RRB severity and the NLGN1 genotype. INTERPRETATION: Our findings suggest that plasma glutamine levels could potentially serve as an endophenotype, thus establishing a link between the genetic risk associated with NLGN1 and the severity of RRB in ASD. This identified association could facilitate the development of novel therapeutic targets, assist in selecting specific cohorts for clinical trials, and provide insights into target symptoms for future ASD treatment strategies. FUNDING: This work was supported by the National Institute of Health (grant numbers: R01MH107205, U01TR002623, R24OD024622, OT2OD032720, and R01NS129188) and the PrecisionLink Biobank for Health Discovery at Boston Children's Hospital.

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15. Li Y, Ma L, Deng Y, Du Z, Guo B, Yue J, Liu X, Zhang Y. The Notch1/Hes1 signaling pathway affects autophagy by adjusting DNA methyltransferases expression in a valproic acid-induced autism spectrum disorder model. Neuropharmacology;2023 (Aug 4);239:109682.

As a pervasive neurodevelopmental disease, autism spectrum disorder (ASD) is caused by both hereditary and environmental elements. Research has demonstrated the functions of the Notch pathway and DNA methylation in the etiology of ASD. DNA methyltransferases DNMT3 and DNMT1 are responsible for methylation establishment and maintenance, respectively. In this study, we aimed to explore the association of DNA methyltransferases with the Notch pathway in ASD. Our results showed Notch1 and Hes1 were upregulated, while DNMT3A and DNMT3B were downregulated at the protein level in the prefrontal cortex (PFC), hippocampus (HC) and cerebellum (CB) of VPA-induced ASD rats compared with Control (Con) group. However, the protein levels of DNMT3A and DNMT3B were augmented after treatment with 3,5-difluorophenacetyl-L-alanyl-S-phenylglycine-2-butyl ester (DAPT), suggesting that abnormal Notch pathway activation may affect the expression of DNMT3A and DNMT3B. Besides, our previous findings revealed that the Notch pathway may participate in development of ASD by influencing autophagy. Therefore, we hypothesized the Notch pathway adjusts autophagy and contributes to ASD by affecting DNA methyltransferases. Our current results showed that after receiving the DNA methyltransferase inhibitor 5-Aza-2′-deoxycytidine (5-Aza-2’dc), the VPA + DAPT+5-Aza-2’dc (V + D + Aza) group exhibited reduced social interaction ability and increased stereotyped behaviors, and decreased expression of DNMT3A, DNMT3B and autophagy-related proteins, but did not show changes in Notch1 and Hes1 protein levels. Our results indicated that the Notch1/Hes1 pathway may adjust DNMT3A and DNMT3B expression and subsequently affect autophagy in the occurrence of ASD, providing new insight into the pathogenesis of ASD.

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16. Liang J, Xin C, Xin M, Wang G, Wu X. An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report. BMC Med Genomics;2023 (Aug 3);16(1):181.

BACKGROUND: Pathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with MECP2 gene mutation show MECP2 duplication syndrome. CASE PRESENTATION: Here we report a rare case in a 10-month-old boy with a hemizygous insertion mutation in MECP2 as NM_001110792, c.799_c.800insAGGAAGC, which results in a frameshift mutation (p.R267fs*6). The patient presented with severe encephalopathy in the neonatal period, accompanied by severe development backwardness, hypotonia, and ocular and oropharyngeal dyskinesia. This is the first report of this mutation, which highlights the phenotype variability associated with MECP2 variants. CONCLUSIONS: This case helps to expand the clinical spectrum associated with MECP2 variants. Close attention should be paid to the growth and development of patients carrying a MECP2 variant or Xq28 duplication. Early interventions may help improve symptoms to some certain extent.

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17. Möde L, Borgolte A, Ghaneirad E, Roy M, Sinke C, Szycik GR, Bleich S, Wiswede D. Cognitive control in adults with high-functioning autism spectrum disorder: a study with event-related potentials. Front Psychiatry;2023;14:1180827.

INTRODUCTION: Little is known about cognitive control in adults with high-functioning forms of autism spectrum disorder because previous research focused on children and adolescents. Cognitive control is crucial to monitor and readjust behavior after errors to select contextually appropriate reactions. The congruency effect and conflict adaptation are measures of cognitive control. Post-error slowing, error-related negativity and error positivity provide insight into behavioral and electrophysiological correlates of error processing. In children and adolescent with autism spectrum disorder deficits in cognitive control and error processing have been shown by changes in post-error slowing, error-related negativity and error positivity in the flanker task. METHODS: We performed a modified Eriksen flanker task in 17 adults with high-functioning autism spectrum disorder and 17 healthy controls. As behavioral measures of cognitive control and error processing, we included reaction times and error rates to calculate congruency effects, conflict adaptation, and post-error slowing. Event-related potentials namely error-related negativity and error positivity were measured to assess error-related brain activity. RESULTS: Both groups of participants showed the expected congruency effects demonstrated by faster and more accurate responses in congruent compared to incongruent trials. Healthy controls exhibited conflict adaptation as they obtained performance benefits after incongruent trials whereas patients with autism spectrum disorder did not. The expected slowing in reaction times after errors was observed in both groups of participants. Individuals with autism spectrum disorder demonstrated enhanced electrophysiological error-processing compared to healthy controls indicated by increased error-related negativity and error positivity difference amplitudes. DISCUSSION: Our findings show that adults with high-functioning autism spectrum disorder do not show the expected upregulation of cognitive control in response to conflicts. This finding implies that previous experiences may have a reduced influence on current behavior in these patients which possibly contributes to less flexible behavior. Nevertheless, we observed intact behavioral reactions after errors indicating that adults with high-functioning autism spectrum disorder can flexibly adjust behavior in response to changed environmental demands when necessary. The enhancement of electrophysiological error-processing indicates that adults with high-functioning autism spectrum disorder demonstrate an extraordinary reactivity toward errors reflecting increased performance monitoring in this subpopulation of autism spectrum disorder patients.

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18. Patten K, Murthi K, Chen YL, Onwumere D, Shore S. Interventions That Foster Self-Determination in Autistic Individuals (2013-2021). Am J Occup Ther;2023 (Mar 1);77(Suppl 1)

Systematic Review Briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association’s (AOTA’s) Evidence-Based Practice Program. Each Systematic Review Brief summarizes the evidence on a theme related to a systematic review topic. This Systematic Review Brief presents findings from a systematic review that examined interventions to support and improve self-determination for autistic1 individuals.

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19. Reeve BB, Lucas N, Chen D, McFatrich M, Jones HN, Gordon KL, Leiva LZ, Lin L, Coenraads M, von Hehn J, Carpenter RL, Marsh ED, Zigler CK. Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome. Eur J Paediatr Neurol;2023 (Jul 28);46:74-81.

PURPOSE: The study goal was to validate the Observer-Reported Communication Ability (ORCA) measure for use with females with Rett Syndrome (RTT). METHODS: Qualitative interviews, including concept elicitation and cognitive interviewing methods, were conducted with 19 caregivers of individuals with RTT ages 2 and older. A quantitative study was then conducted in 279 caregivers to evaluate construct validity and reliability. RESULTS: After minor modifications were made, the modified ORCA measure was well understood and captured key communication concepts. Quantitative data showed evidence for reliable scores (α = 0.90, test-retest intraclass correlation = 0.88), minimal floor and no ceiling effects, and strong correlation with the Communication and Symbolic Behaviors Scale (r = 0.73). CONCLUSIONS: This study provided initial support that the modified ORCA measure is an acceptable caregiver-reported measure of communication ability for females with RTT. Future work should include evaluation of longitudinal validity of the measure and its associations with clinician- and performance-based measures in diverse samples.

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20. Ruggiero-Ruff RE, Villa PA, Hijleh SA, Avalos B, DiPatrizio NV, Haga-Yamanaka S, Coss D. Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction. Sci Rep;2023 (Aug 4);13(1):12666.

Mutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene are linked to Fragile X Syndrome, the most common monogenic cause of intellectual disability and autism. People affected with mutations in FMR1 have higher incidence of obesity, but the mechanisms are largely unknown. In the current study, we determined that male Fmr1 knockout mice (KO, Fmr1(-/y)), but not female Fmr1(-/-), exhibit increased weight when compared to wild-type controls, similarly to humans with FMR1 mutations. No differences in food or water intake were found between groups; however, male Fmr1(-/y) display lower locomotor activity, especially during their active phase. Moreover, Fmr1(-/y) have olfactory dysfunction determined by buried food test, although they exhibit increased compulsive behavior, determined by marble burying test. Since olfactory brain regions communicate with hypothalamic regions that regulate food intake, including POMC neurons that also regulate locomotion, we examined POMC neuron innervation and numbers in Fmr1(-/y) mice. POMC neurons express Fmrp, and POMC neurons in Fmr1(-/y) have higher inhibitory GABAergic synaptic inputs. Consistent with increased inhibitory innervation, POMC neurons in the Fmr1(-/y) mice exhibit lower activity, based on cFOS expression. Notably, Fmr1(-/y) mice have fewer POMC neurons than controls, specifically in the rostral arcuate nucleus, which could contribute to decreased locomotion and increased body weight. These results suggest a role for Fmr1 in the regulation of POMC neuron function and the etiology of Fmr1-linked obesity.

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21. Shahin K, Soleimani-Delfan A, He Z, Sansonetti P, Collard JM. Metagenomics revealed a correlation of gut phageome with autism spectrum disorder. Gut Pathog;2023 (Aug 4);15(1):39.

The human gut bacteriome is believed to have pivotal influences on human health and disease while the particular roles associated with the gut phageome have not been fully characterized yet with few exceptions. It is argued that gut microbiota can have a potential role in autism spectrum disorders (ASD). The public microbiota database of ASD and typically developing (TD) Chinese individuals were analyzed for phage protein-coding units (pPCU) to find any link between the phageome and ASD. The gut phageome of ASD individuals showed a wider diversity and higher abundance compared to TD individuals. The ASD phageome was associated with a significant expansion of Caudoviricetes bacteriophages. Phages infecting Bacteroidaceae and prophages encoded within Faecalibacterium were more frequent in ASD than in TD individuals. The expansion and diversification of ASD phageome can influence the bacterial homeostasis by imposing pressure on the bacterial communities. In conclusion, the differences of phages community in in ASD and TD can be used as potential diagnosis biomarkers of ASD. Further investigations are needed to verify the role of gut phage communities in the pathogenesis of ASD.

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22. Stancliffe RJ, Pettingell SL, Houseworth J, Tichá R. Participation and Companions for Socially Inclusive Community Activities by U.S. Adults With Intellectual and Developmental Disabilities. Intellect Dev Disabil;2023 (Aug 1);61(4):326-344.

We investigated socially inclusive participation in mainstream community groups and religious services by U.S. adults with intellectual and developmental disabilities using weighted secondary analyses of 2018-2019 National Core Indicators data. Overall, 34.4% participated in community groups and 42.4% in religious services. Some 45.0% had an unmet desire for community-group participation, whereas most (75.0%) attended a religious service as often as preferred. The type of companion varied by living arrangements and age group. Attending community groups and religious services were each strongly associated with better friendship outcomes but were not related to loneliness. The large unmet demand for community-group participation reveals a major gap. The friendship outcomes underline the benefits of socially inclusive community participation.

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23. Takata K, Yoshikawa Y, Muramatsu T, Matsumoto Y, Ishiguro H, Mimura M, Kumazaki H. Social skills training using multiple humanoid robots for individuals with autism spectrum conditions. Front Psychiatry;2023;14:1168837.

INTRODUCTION: Social skills training (SST) is used to help individuals with autism spectrum conditions (ASC) better understand the perspectives of others and social interactions, develop empathy skills, and learn how to engage with others socially. However, many individuals with ASC cannot easily sustain high motivation and concentration during such an intervention when it is administered by humans. We developed a social skills training program using multiple humanoid robots (STUH), including an android robot, that aimed to enable individuals with ASC to become familiar with the perspectives of others and improve their sociability and empathy skills. The objective of the present study was to investigate the effectiveness of STUH for these individuals. METHODS: In STUH, we prepared 50 social exercises that consisted of conversations and behavioral interactions between an android robot and a simple humanoid robot. We prepared another humanoid robot that featured a cartoon-like and mechanical design, which played the role of host. In the first half-session of STUH, participants worked on the exercise from the perspective of an outsider. In the second half-session of STUH, they simulated experience by using robots as their avatars. The intervention associated with STUH was conducted for five days in total. We conducted an analysis of variance (ANOVA) featuring the intervention time point as the independent variable to examine changes in each score on the sociability index items. RESULTS: In total, 14 individuals with ASC participated in the study. The results of multiple comparison tests using the Bonferroni method indicated that all sociability index items improved between preintervention and follow-up. Our program enabled the participants to become familiar with the perspectives of others and improve their sociability. DISCUSSION: Given the promising results of this study, future studies featuring long-term follow-up should be conducted to draw definitive conclusions about the efficacy of our training system.

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24. Tan BL, Nair R, Duggal MS, Aishworiya R, Tong HJ. Development of oral health resources and a mobile app for caregivers and autistic children through consensus building. Autism;2023 (Aug 3):13623613231188768.

Caregivers of autistic children often lack knowledge regarding oral homecare and when and where to see the dentist. To address this need, we developed a series of information on oral health. An autistic child assisted in developing two social stories to showcase a dental visit. A mobile app was developed to deliver the above mentioned. Other features include creation of customised social stories and visual schedule and an inbox to allow dentists to send messages to parents. The developed information and social stories were reviewed by experts and parents. The app also underwent anonymous and independent testing by parents. Overall the information and app were well received by the experts and parents.

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25. Termine C, Galli V, Dui LG, Berlusconi V, Lipari R, Lunardini F, Ferrante S. Autism in Preschool-Aged Children: The Effects of COVID-19 Lockdown. J Autism Dev Disord;2023 (Aug 4)

The COVID-19 lockdown affected children, especially those with autism spectrum disorder, due to the disruption in rehabilitation and educational activities. We conducted a cross-sectional study of 315 preschool-aged children, 35 of which had autism, to investigate this impact. A questionnaire was administered to explore socio-demographic status, familiar/home environment, and COVID-19 exposure. The clinical features of autistic subjects were also examined. Seven variables were considered to describe the effect of pandemic: Remote learning, Behavior changes, Home activities, Sleep habits, Night awakenings, Physical activity, Information about the virus. The lockdown had a significant impact on Remote learning, Behavior changes, and Information about the virus in participants with autism. Moreover, we found a worsening in repetitive movements, echolalia, restricted interests, and aggressive behaviors.

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26. Torres EB, Twerski G, Varkey H, Rai R, Elsayed M, Katz MT, Tarlowe J. The time is ripe for the renaissance of autism treatments: evidence from clinical practitioners. Front Integr Neurosci;2023;17:1229110.

INTRODUCTION: Recent changes in diagnostics criteria have contributed to the broadening of the autism spectrum disorders and left clinicians ill-equipped to treat the highly heterogeneous spectrum that now includes toddlers and children with sensory and motor issues. METHODS: To uncover the clinicians’ critical needs in the autism space, we conducted surveys designed collaboratively with the clinicians themselves. Board Certified Behavioral Analysts (BCBAs) and developmental model (DM) clinicians obtained permission from their accrediting boards and designed surveys to assess needs and preferences in their corresponding fields. RESULTS: 92.6% of BCBAs are open to diversified treatment combining aspects of multiple disciplines; 82.7% of DMs also favor this diversification with 21.8% valuing BCBA-input and 40.6% neurologists-input; 85.9% of BCBAs and 85.3% of DMs advocate the use of wearables to objectively track nuanced behaviors in social exchange; 76.9% of BCBAs and 57.0% DMs feel they would benefit from augmenting their knowledge about the nervous systems of Autism (neuroscience research) to enhance treatment and planning programs; 50.0% of BCBAs feel they can benefit for more training to teach parents. DISCUSSION: Two complementary philosophies are converging to a more collaborative, integrative approach favoring scalable digital technologies and neuroscience. Autism practitioners seem ready to embrace the Digital-Neuroscience Revolutions under a new cooperative model.

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27. Wang S, Chen D, Yang Y, Zhu L, Xiong X, Chen A. Effectiveness of physical activity interventions for core symptoms of autism spectrum disorder: A systematic review and meta-analysis. Autism Res;2023 (Aug 4)

In this paper, systematic review and meta-analysis were used to demonstrate the effectiveness of physical activity intervention on core symptoms of autism spectrum disorder (ASD). Physical activity intervention for core symptoms of ASD were retrieved by computer from the PubMed Cochrane Library, Web of Science, APA PsycNet, and CNKI database during December 1, 2022. Two researchers evaluated the quality of the included literature and extracted the data. Sixteen studies were eventually included, with a total of 587 patients with ASD. Meta-analysis showed that the core symptoms of ASD patients decreased after physical activity intervention, ES(g) = 0.681(95% CI: 0.380-0.982, p = 0.000), specifically, physical activity improved the reduction of social disorder ES(g) = 0.749(95% CI: 0.524-0.973) and repeated rigid behavior ES(g) = 0.553 (95% CI: -0.079 to 1.186). Subgroup analysis showed that preschool children with ASD who were 3-6 years old, exercised for more than 12 weeks, more than 3 times a week, and exercised for more than 90 min per session had better improvement in core symptoms after participating in physical activity. The conclusion of this paper is that physical activity intervention can improve the core symptoms of ASD, especially the reduction of social disorders and repetitive behaviors.

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28. Wegmann B, Tatemoto P, Miemczyk S, Ludvigsson J, Guerrero-Bosagna C. Identification of potentially relevant metals for the etiology of autism by using a Bayesian multivariate approach for partially censored values. Sci Rep;2023 (Aug 3);13(1):12622.

Heavy metals are known to be able to cross the placental and blood brain barriers to affect critical neurodevelopmental processes in the fetus. We measured metal levels (Al, Cd, Hg, Li, Pb and Zn) in the cord blood of newborns and in the serum of the same children at 5 years of age, and compared between individuals with or without (controls) autism spectrum disorder (ASD) diagnosis. The samples were from a biobank associated with the All Babies in Southeast Sweden (ABIS) registry. We proposed a Bayesian multivariate log-normal model for partially censored values to identify potentially relevant metals for the etiology of ASD. Our results in cord blood suggest prenatal Al levels could be indicative of later ASD incidence, which could also be related to an increased possibility of a high, potentially toxic, exposure to Al and Li during pregnancy. In addition, a larger possibility of a high, potentially beneficial, exposure to Zn could occur during pregnancy in controls. Finally, we found decisive evidence for an average increase of Hg in 5-year-old ASD children compared to only weak evidence for controls. This is concordant with previous research showing an impaired ability for eliminating Hg in the ASD group.

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29. Winsor JE, Landa C, Hall AC, Narby C, Kamau E. Pushing the Integrated Employment Agenda: Employment Systems Partners and the High-Performing States Model. Intellect Dev Disabil;2023 (Aug 1);61(4):292-306.

This article summarizes data collected from key informants in Iowa, Maryland, and Oklahoma regarding efforts to support integrated employment for people with intellectual and developmental disabilities (IDD). We highlight features that contribute to the effectiveness of collaborative structures that have resulted in each state’s success in achieving integrated employment outcomes for individuals with IDD across three state systems: IDD, vocational rehabilitation, and education. We present these features using the seven elements of the High-Performing States Employment Model. These elements have been found to be important in achieving higher rates of competitive integrated employment outcomes for people with IDD.

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30. Wu Q, Boonma P, Badu S, Yalcinkaya N, So SY, Garey KW, Williams K, Arnold LE, Shulman RJ, Kellermayer R, Savidge TC. Donor-recipient specificity and age-dependency in fecal microbiota therapy and probiotic resolution of gastrointestinal symptoms. NPJ Biofilms Microbiomes;2023 (Aug 3);9(1):54.

Fecal microbiota transplantation (FMT) has proven to be an effective treatment for recurrent Clostridioides difficile infection (rCDI) in both adult and pediatric patients. However, as microbiome development is a critical factor in children, it remains unclear whether adult fecal donors can provide age-appropriate functional restoration in pediatric patients. To address this issue, we conducted an integrated systems approach and found that concordant donor strain engraftment, along with metabolite restoration, are associated with FMT outcomes in both adult and pediatric rCDI patients. Although functional restoration after FMT is not strain-specific, specialized metabolic functions are retained in pediatric patients when adult fecal donors are used. Furthermore, we demonstrated broad utility of high-resolution variant-calling by linking probiotic-strain engraftment with improved gastrointestinal symptoms in adults with irritable bowel syndrome and in children with autism spectrum disorder. Our findings emphasize the importance of strain-level identification when assessing the efficacy of probiotics and microbiota-based therapeutics.

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31. Zavaleta-Ramírez P, Rosetti M, Albores-Gallo L, López ON, González PP. Pediatric and psychiatric models of autism care in Mexico: Differences in diagnostic tools and prescribed interventions. Clin Child Psychol Psychiatry;2023 (Aug 4):13591045231193817.

Low- and middle-income countries face heterogeneity in the way clinicians’ approach Autism Spectrum Disorder (ASD) diagnosis and treatment. The current study analyzes the diagnostic tools, laboratory tests, pharmacological and psychosocial interventions received by patients during the steps to diagnosis and treatment of two specialized care centers. Researchers interviewed families with a child with ASD receiving services at either a child psychiatric or a pediatric hospital. Of the total sample, 47% reported clinicians not using a diagnostic tool, 20% reported not receiving any psychosocial intervention, and 88% reported receiving a pharmacological prescription. Patients at the pediatric hospital were more likely to receive interventions with some components of Applied Behavioral Analysis, Early Start Denver Model, Treatment and Education of Autistic and Related Communication Handicapped Children, and Sensory integration therapy; while patients at the psychiatric hospital were more likely to undergo learning, daily living skills, and socialization therapies. Patients at the psychiatric hospital received significantly more requests to obtain auditory and vision tests whilst genetic testing and imaging were more common in the pediatric hospital. The range and variability in terms of diagnostic tools, laboratory tests, and treatment options observed for both sites reflect a lack of consensus. Recommendations to improve ASD diagnostic and treatment in Mexico are given.

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