1. Barnhardt E, Coury DL. Family-systems interventions for families of people with an intellectual disability or who are autistic show potential, but further research is needed. Evid Based Nurs;2024 (Jan 16)

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2. Cage E, Botha M, McDevitt L, King KN, Biscoe L, Tucker K, Pearson A. Diagnosis as a new beginning not an end: A participatory photovoice study on navigating an autism diagnosis in adulthood. Autism;2024 (Jan 17):13623613231220418.

Lots of people seek an autism diagnosis as an adult, and they often say that being diagnosed can be positively life-changing, but the experience of getting a diagnosis can be difficult. We often do not hear the views of people currently looking for a diagnosis, or talk to them about how diagnosis relates to their identity. In our study, we looked at experiences of people currently seeking an autism diagnosis in the UK. We used participatory methods, where six people seeking diagnosis were included as collaborators in the research. They took part in four different sessions, where they helped to shape the research, took part in interviews about their experiences and helped to analyse the patterns in all the interviews. We also used something called photovoice during the interviews, where they could use photos to show how they felt about navigating a diagnosis. We identified four common themes: (1) everyone had experienced some form of crisis before seeking diagnosis; (2) when they realised they were autistic, they felt seen; (3) the diagnostic process and criteria were not working, and they felt judged by clinicians and (4) there was limited support available after diagnosis. In another session, we identified actions that need to be taken which have implications for policy and practice, including improving the diagnostic process and criteria with autistic people, autistic people being listened to more by people like general practitioners and clinicians and diagnosis services needing to be more flexible and appreciate different aspects of someone’s identity and neurodivergence.

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3. Chen H, Liang Q, Wang B, Liu H, Dong G, Li K. Sports game intervention aids executive function enhancement in children with autism – An fNIRS study. Neurosci Lett;2024 (Jan 17);822:137647.

Executive dysfunction is a prevalent issue in children diagnosed with autism spectrum disorder (ASD). While the efficacy of physical exercise in enhancing cognitive abilities in these children is well-documented, research exploring the relationship between physical exercise and brain function remains limited. This study aimed to investigate the impact of cognitively stimulating exercise on executive functions (EF) in children with ASD. The study enrolled thirty children with ASD who were randomly allocated into two groups: a sports game learning group (n = 15) and a control group (n = 15). Functional near-infrared spectroscopy was utilized to monitor cerebral function alterations pre- and post- an eight-week intervention program. The study focused on three core components of executive function: working memory, inhibitory control (IC), and cognitive flexibility (CF). Results revealed a significant improvement in the EF in the intervention group. After eight weeks of intervention, neural activity, along with improved EF performance, was enhanced significantly in the prefrontal cortex (PFC). During post-intervention, EF tasks were also significantly activated in the dorsolateral PFC, orbitofrontal cortex, and frontal pole area. Furthermore, an increase in short-distance functional connectivity within the PFC was observed during resting states. These results imply that engagement in sports game training can significantly improve EF information processing, augmenting task-related cortical activations and the efficiency of brain function networks in children with ASD.

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4. Chung EY, Kuen-Fung Sin K, Chow DH. Effectiveness of Robotic Intervention on Improving Social Development and Participation of Children with Autism Spectrum Disorder – A Randomised Controlled Trial. J Autism Dev Disord;2024 (Jan 17)

Evidence-based robotic intervention programmes for children with autism spectrum disorder (ASD) have been limited. As yet, there is insufficient evidence to inform therapists, teachers, and service providers on effectiveness of robotic intervention to enhance social development and participation of children with ASD in a real context. This study used a randomised controlled trial to test the efficacy of robotic intervention programmes in enhancing the social development and participation of children with ASD. 60 children with ASD were included. The participants were randomly assigned to the following groups: (1) robotic intervention programme (n = 20), (2) human-instructed programme (n = 20), and (3) control group (n = 20). Both the performance-based behavioural change in social communication and parent-reported change in social responsiveness were evaluated. The participants in the robotic intervention group demonstrated statistically significant changes in both the performance-based assessment and parent-reported change in social participation. Significant differences were found in the communication and reciprocal social interactions scores between the experimental group and the control and comparison groups in the performance-based assessment (p < 0.01). The effectiveness of robotic intervention programme to enhance the social communication and participation was confirmed. Future studies may also consider adding a maintenance phase to document how the effects of the intervention carry over to the participants over a longer period. (Clinical trial number: NCT04879303; Date of registration: 10 May 2021).

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5. da Silva GCB, Firmino RT, Nóbrega WFS, d’Ávila S. Oral habits, sociopsychological orthodontic needs, and sociodemographic factors perceived by caregivers impact oral health-related quality of life in children with and without autism?. Int J Paediatr Dent;2024 (Jan 16)

BACKGROUND: Caregivers play a crucial role in assessing the oral health-related quality of life (OHRQoL) of young individuals with autism spectrum disorder (ASD). AIM: This study assessed the impact of sociodemographic and oral conditions on OHRQoL and family dynamics in young individuals with and without autism, as perceived by guardians. DESIGN: This comparative cross-sectional study included young individuals aged 6 to 14 years and their guardians. Data were collected at a specialized institution and dental schools. Guardians completed the Parental-Caregiver Perceptions Questionnaire (P-CPQ), Family Impact Scale (FIS), and sociodemographic and oral habits questionnaires. The sociopsychological need for orthodontic treatment was assessed using the Index of Orthodontic Treatment Need (IOTN). RESULTS: The sample included 144 youths and caregivers. The ASD group had higher P-CPQ and FIS scores. Factors associated with poorer perceived OHRQoL included higher youth age, lower caregiver education, higher IOTN scores, teeth clenching (RR = 1.20; 95% CI: 1.01-1.41), and lip sucking. Lower parental education (RR = 1.75; 95% CI: 1.10-2.80) and higher IOTN scores from the caregiver’s perspective impacted family dynamics. CONCLUSION: Caregivers of young individuals with ASD perceived a lower OHRQoL, and families in this group were more affected by sociodemographic and oral conditions.

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6. Deng Y, Ma L, Du Z, Ma H, Xia Y, Ping L, Chen Z, Zhang Y. The Notch1/Hes1 pathway regulates Neuregulin 1/ErbB4 and participates in microglial activation in rats with VPA-induced autism. Prog Neuropsychopharmacol Biol Psychiatry;2024 (Jan 17);131:110947.

The core clinical characteristics of autism, which is a neurodevelopmental disease, involve repetitive behavior and impaired social interactions. Studies have shown that the Notch and Neuregulin1 (NRG1) signaling pathways are abnormally activated in autism, but the mechanism by which these two signaling pathways interact to contribute to the progression of autism has not been determined. Our results suggest that the levels of Notch1, Hes1, NRG1, and phosphorylated ErbB4 in the cerebellum (CB), hippocampus (HC), and prefrontal cortex (PFC) were increased in rats with valproic acid (VPA)-induced autism compared to those in the Con group. However, 3, 5-difluorophenyl-L-alanyl-L-2-phenylglycine tert-butyl (DAPT), which is a Notch pathway inhibitor, ameliorated autism-like behavioral abnormalities and decreased the protein levels of NRG1 and phosphorylated ErbB4 in rats with VPA-induced autism; these results demonstrated that the Notch1/Hes1 pathway could participate in the pathogenesis of autism by regulating the NRG1/ErbB4 signaling pathway. Studies have shown that the Notch pathway regulates microglial differentiation and activation during the onset of neurological disorders and that microglia affect autism-like behavior via synaptic pruning. Therefore, we hypothesized that the Notch1/Hes1 pathway could regulate the NRG1/ErbB4 pathway and thus participate in the development of autism by regulating microglial functions. The present study showed that AG1478, which is an ErbB4 inhibitor, ameliorated the autism-like behaviors in a VPA-induced autism rat model, reduced abnormal microglial activation, and decreased NRG1 and Iba-1 colocalization; however, AG1478 did not alter Notch1/Hes1 activity. These results demonstrated that Notch1/Hes1 may participate in the microglial activation in autism by regulating NRG1/ErbB4, revealing a new mechanism underlying the pathogenesis of autism.

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7. Farrow A, Al-Jaishi AA, O’Donnell S, Palmeter S, Georgiades S, Chen YJ, McPhee PG, Edjoc R. Functional difficulties in children and youth with autism spectrum disorder: analysis of the 2019 Canadian Health Survey on Children and Youth. Health Promot Chronic Dis Prev Can;2024 (Jan);44(1):9-20.

INTRODUCTION: This study examined the prevalence of functional difficulties and associated factors in Canadian children/youth aged 5 to 17 years diagnosed with autism spectrum disorder (ASD). METHODS: We analyzed data from the 2019 Canadian Health Survey on Children and Youth (CHSCY), a nationally representative survey of Canadian children/youth that used the Washington Group Short Set on Functioning (WG-SS) to evaluate functioning in six daily tasks. For each functional domain, binary outcomes were derived (no/some difficulty, a lot of difficulty/no ability). We used logistic regression to identify associations between demographic characteristics, educational experiences, and perceived mental and general health and the most common functional difficulties, namely those related to remembering/concentrating, communication and self-care. All estimates were weighted to be representative of the target population. The bootstrap method was used to calculate variance estimates. RESULTS: Analysis of the records of 660 children/youth with ASD revealed that the most common functional difficulties were remembering/concentrating (22%; 95% CI: 18-27), communicating (19%; 95% CI: 15-23) and self-care (13%; 95% CI: 10-17). Lower perceived mental health was associated with increased functional difficulties with remembering/concentrating. ASD diagnosis at a lower age and lower perceived general health were associated with increased functional difficulty with communication. Parental expectations for postsecondary education were associated with decreased functional difficulty for self-care. CONCLUSION: One or more functional difficulties from the WG-SS was present in 39% of Canadian children/youth aged 5 to 17 years with ASD. Functional difficulties with remembering/concentrating, communication and self-care were most common. Using the WG-SS, the most common functional difficulties in Canadian children/youth 5 to 17 years old who were diagnosed with autism spectrum disorder (ASD) were difficulties with memory or concentration (22%), communication (19%) and self-care (13%). Lower perceived mental health, younger age at ASD diagnosis, lower perceived general health and lower parental expectations for postsecondary education were associated with increased functional difficulties. Further research, including longitudinal data collection and more specialized measurement, is needed to identify the mechanisms and associated factors underlying functional difficulties in children/youth with ASD. eng

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8. Fisher AP, Lynch JD. Differences Between Black and White Caregivers in the Association Between Autism Diagnostic Process Satisfaction and Service Use. J Autism Dev Disord;2024 (Jan 17)

BACKGROUND: Black families of children with autism spectrum disorder have less access to high quality, culturally responsive care for their children. METHOD: We assessed satisfaction and service utilization among fifty (29%) Black caregivers and 124 (71%) White caregivers of children with autism spectrum disorder. We also examined whether race moderated the association between satisfaction and service utilization. RESULTS: We did not identify racial differences in satisfaction or service utilization. Race moderated the association between satisfaction and total service use, F(170) = 5.29, p =.02, therapy service use, F(163) = 3.59, p =.046, and community service use, F(169) = 4.76, p =.046. For Black families, there was a positive association between satisfaction and service use. There was no association between satisfaction and service use among White families. DISCUSSION: Satisfaction may be particularly important among Black families, who have been mistreated by the healthcare system and frequently face discrimination. Our results suggest the importance of culturally responsive care for Black families.

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9. Grosvenor LP, Cohen RJ, Gordon NP, Massolo ML, Cerros HJ, Yoshida CK, Ames JL, Croen LA. Barriers to Healthcare for Latinx Autistic Children and Adolescents. J Autism Dev Disord;2024 (Jan 17)

PURPOSE: To understand the ways in which autistic Latinx children experience disparities in diagnosis, healthcare, and receipt of specialty services. METHODS: 417 individuals who identified as Latinx caregivers of autistic children who were members of the same integrated healthcare system in Northern California were surveyed. Responses were analyzed using the child’s insurance coverage (Government or Commercial) and caregiver’s primary language (Spanish or English). RESULTS: Compared to the commercially-insured, government-insured participants accessed several services at a higher rate and were less likely to cite the high cost of co-pays as a barrier. CONCLUSION: There were no significant differences in service access by language status, but Spanish speakers were more likely to cite health literacy as a barrier to receiving care.

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10. Haaf R, Brandi ML, Albantakis L, Lahnakoski JM, Henco L, Schilbach L. Peripheral oxytocin levels are linked to hypothalamic gray matter volume in autistic adults: a cross-sectional secondary data analysis. Sci Rep;2024 (Jan 16);14(1):1380.

Oxytocin (OXT) is known to modulate social behavior and cognition and has been discussed as pathophysiological and therapeutic factor for autism spectrum disorder (ASD). An accumulating body of evidence indicates the hypothalamus to be of particular importance with regard to the underlying neurobiology. Here we used a region of interest voxel-based morphometry (VBM) approach to investigate hypothalamic gray matter volume (GMV) in autistic (n = 29, age 36.03 ± 11.0) and non-autistic adults (n = 27, age 30.96 ± 11.2). Peripheral plasma OXT levels and the autism spectrum quotient (AQ) were used for correlation analyses. Results showed no differences in hypothalamic GMV in autistic compared to non-autistic adults but suggested a differential association between hypothalamic GMV and OXT levels, such that a positive association was found for the ASD group. In addition, hypothalamic GMV showed a positive association with autistic traits in the ASD group. Bearing in mind the limitations such as a relatively small sample size, a wide age range and a high rate of psychopharmacological treatment in the ASD sample, these results provide new preliminary evidence for a potentially important role of the HTH in ASD and its relationship to the OXT system, but also point towards the importance of interindividual differences.

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11. He YY, Wen CM, Yan YY, Yang XF, Long L, Yang WY, Yang XY, Zheng JJ, Zhou Y, Chen YN. [Study on primary screening technique for children with autism spectrum disorder]. Zhonghua Yu Fang Yi Xue Za Zhi;2024 (Jan 6);58(1):81-86.

To explore screening tools for children with autism spectrum disorder (ASD), which are convenient for primary hospitals, it can provide basic data for formulating ASD prevention policies. This was a cross-sectional study by cluster sampling. Huyi District and Xincheng District were extracted for investigation in Xi’an City. From July 2021 to September 2022, all children aged from 3 months to 36 months who live in the two districts were subjected to primary screening. The child care physician used the routine screening tool « warning signs checklist for screening psychological, behavioral and developmental problems of children » and cartoon pictures of « early high-risk warning signs of autism », the children who were positive in the initial screening were referred to the district level maternal and child health hospital for re-screening, and those who were positive in the re-screening were referred to Xi ‘an Children’s Hospital for diagnosis. The results showed that a total of 17 905 children aged from 3 months to 36 months were initially screened in the two districts, including 10 588 children aged from 18 months to 36 months, 50 children who were positive in the initial screening and 50 children who were re-screened. 23 children (18 boys and 5 girls) were diagnosed with ASD. The prevalence rate of ASD in children was 2.17‰ (95% confidence interval:1.29‰-3.06‰). 42 children were positive for « warning signs checklist » at the preliminary screening, and 19 were confirmed as ASD. 27 children were positive for « cartoon pictures » in the preliminary screening, and 23 were confirmed with ASD. The « cartoon pictures » in the preliminary screening and diagnosis of consistent rate was higher than the « warning signs checklist », two kinds of screening methods comparison were statistically significant difference in the odds of consistent (χ(2)=11.01, P=0.001). In conclusion, relying on the three-level network of maternal and child health care, it is conducive to the whole process management of screening and diagnosis of children with ASD, and to guide the formulation of prevention policies. The cartoon pictures of « early high-risk warning signs of autism » can assist the identification of children with ASD based on the « warning signs checklist », which is simple, effective and suitable for promotion in the community health care.

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12. Hu X, Wang B, Chen J, Han D, Wu J. Association Between Epidural Labor Analgesia and Autism Spectrum Disorder in Offspring: A Systematic Review and Meta-Analysis. J Pain Res;2024;17:227-240.

PURPOSE: Many studies have focused on the association between Autism spectrum disorder (ASD) and epidural labor analgesia (ELA), which is the most effective way to manage labor pain. The purpose of this meta-analysis was to summarize the current state of the association between ELA and ASD. METHODS: A search of the literature yielded 201 relevant studies, of which 7 cohort studies met our inclusion criteria. Two independent reviewers screened the inclusion results, extracted data, and assessed the risk of bias and quality of evidence. RESULTS: Compared to parturient who did not receive ELA, parturient who received ELA had a slightly increased risk of ASD (adjusted hazard ratio [aHR], 1.12; 95% confidence interval [CI], 1.06-1.17; I2, 69%; P < 0.001; seven studies). After excluding one literature (aHR, 1.09; 95% CI, 1.06-1.12; I2, 4%; P < 0.001; six studies). The sensitivity analyses had consistent outcomes with the main analyses involving siblings (aHR 1.11; 95% CI 1.03-1.19), cesarean section and instrumental deliveries (aHR 1.07; 95% CI 1.03-1.10), non-overlapping populations (aHR 1.09; 95% CI 1.05-1.12), full-term birth populations (aHR 1.10; 95% CI 1.06-1.14), and studies assessed to have moderate risk of bias (aHR 1.09; 95% CI 1.02-1.16). CONCLUSION: This meta-analysis revealed a modest positive association between ELA and ASD, acknowledging a slight potential risk. However, it is important to note that this risk cannot be completely dismissed due to the possibility of bias and this association is based on low-quality evidence. Future studies are required to assess and mitigate different confounding biases and investigate the time-dose-response relationship.

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13. Hunt AD, Procyshyn TL. Changing perspectives on autism: Overlapping contributions of evolutionary psychiatry and the neurodiversity movement. Autism Res;2024 (Jan 17)

Perspectives on autism and psychiatric conditions are affected by a mix of scientific and social influences. Evolutionary psychiatry (EP) and the neurodiversity movement are emerging paradigms that reflect these distinct influences, with the former grounded in scientific theory and the latter driven by political and social principles. Despite their separate foundations, there is a significant overlap between EP and neurodiversity that has not been explored. Specifically, both paradigms reframe disorders as natural cognitive differences rather than disease; expand the concept of « normal » beyond that implied in modern psychiatry; focus on relative strengths; recognize that modern environments disadvantage certain individuals to cause functional impairment; emphasize cognitive variation being socially accommodated and integrated rather than treated or cured; and can help reduce stigmatization. However, in other ways, they are distinct and sometimes in conflict. EP emphasizes scientific explanation, defines « dysfunction » in objective terms, and differentiates heterogenous cases based on underlying causes (e.g. autism due to de novo genetic mutations). The neurodiversity movement emphasizes social action, removes barriers to inclusion, promotes inclusive language, and allows unrestricted identification as neurodivergent. By comparing and contrasting these two approaches, we find that EP can, to some extent, support the goals of neurodiversity. In particular, EP perspectives could be convincing to groups more responsive to scientific evidence and help achieve a middle ground between neurodiversity advocates and critics of the movement.

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14. Jeong EH. Effects of school-based occupational therapy program for children with disabilities in elementary school in Korea: a case study. BMC Psychol;2024 (Jan 16);12(1):26.

BACKGROUND: The purpose of this case study was to explore the effects of a school-based occupational therapy on children’s attention, school adaptation, sensory processing, and motor function for children in special classes in elementary school in Korea. CASE PRESENTATION: The subjects of this study were a 7-year-old boy with autism spectrum disorder and a 9-year-old girl with intellectual disability. The school-based occupational therapy program consisted of 10 sessions and was conducted once a week for an hour and a half. The program consisted of classroom activities, use of school facilities, emotional management, and activities based on sensory integration, and was conducted as individual and group programs according to sessions. As a result of the study, all improved when the pre- and post-scores of the two children’s attention assessment, school adjustment scale, sensory processing evaluation tool for the children in school and BOT-2-SF were compared. CONCLUSIONS: Although the results from two cases cannot be generalized, the findings suggest the school-based occupational therapy program may help a positive effect on the school life of children with disabilities. Further investigation is necessary.

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15. Lyu TJ, Ma J, Zhang XY, Xie GG, Liu C, Du J, Xu YN, Yang DC, Cen C, Wang MY, Lyu NY, Wang Y, Zhang HQ. Deficiency of FRMD5 results in neurodevelopmental dysfunction and autistic-like behavior in mice. Mol Psychiatry;2024 (Jan 16)

The pathophysiology of autism spectrum disorders (ASDs) is causally linked to postsynaptic scaffolding proteins, as evidenced by numerous large-scale genomic studies [1, 2] and in vitro and in vivo neurobiological studies of mutations in animal models [3, 4]. However, due to the distinct phenotypic and genetic heterogeneity observed in ASD patients, individual mutation genes account for only a small proportion (<2%) of cases [1, 5]. Recently, a human genetic study revealed a correlation between de novo variants in FERM domain-containing-5 (FRMD5) and neurodevelopmental abnormalities [6]. In this study, we demonstrate that deficiency of the scaffolding protein FRMD5 leads to neurodevelopmental dysfunction and ASD-like behavior in mice. FRMD5 deficiency results in morphological abnormalities in neurons and synaptic dysfunction in mice. Frmd5-deficient mice display learning and memory dysfunction, impaired social function, and increased repetitive stereotyped behavior. Mechanistically, tandem mass tag (TMT)-labeled quantitative proteomics revealed that FRMD5 deletion affects the distribution of synaptic proteins involved in the pathological process of ASD. Collectively, our findings delineate the critical role of FRMD5 in neurodevelopment and ASD pathophysiology, suggesting potential therapeutic implications for the treatment of ASD.

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16. Mahmoud AH, Elhefnawei DM, El-Desouky MA, Kadry MO. Reciprocal crosslink among MeCP2/BDNF /CREB signaling pinpointed in autism spectrum disorder. Toxicol Rep;2024 (Jun);12:91-99.

Autism spectrum disorder, or individual disability (ID), is a condition characterized by complications in social interaction, restricted repetitive behavior, and difficulties in social communication. Neuquinon (NQ) possess a powerful therapeutic potential in various neurodegenerative disease. Nevertheless, contributing to NQ’s low water solubility and bioavailability, its medicinal use has been constrained. Liposomes were supposed to be prospective drug-delivering agents for NQ, crossing the blood-brain barrier (BBB), and reaching the target organs. The current investigation aims to track the signaling pathways that govern NQ and liposomal neuquinon (LNQ) action in autistic models generated by ethyl formic acid. The neurotransmitters gamma amino-butyric acid (GABA), acetylcholine (ACh), and acetylcholinesterase (AChE) in addition to, the gene expressions of brain-derived neurotrophic factor (BDNF), cAMP response element-binding protein (CREB), and methyl-CpG-binding protein 2 (MeCP2) and the DNA damage COMET analysis at different time intervals of the study, were assessed. EFA in a dose of 500 mg/kg BW was used to induce autism in rats, and then NQ and LNQ were administered in 10 mg/kg and 2 mg/kg BW, respectively. The results revealed that NQ and LNQ significantly down-regulated BDNF, GABA, and AChE; on the other hand, they up-regulated MeCP2, CREB gene expressions, and ACh action. NQ and LNQ displayed improvement in DNA damage in almost all brain regions after EFA alterations; even better results were noticed post-LNQ therapy. Therefore, it may be concluded that neuquinon and liposomal-loaded neuquinon have a therapeutic index versus EFA-induced autism in a rat model.

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17. Mathew NE, McCaffrey D, Walker AK, Mallitt KA, Masi A, Morris MJ, Ooi CY. The search for gastrointestinal inflammation in autism: a systematic review and meta-analysis of non-invasive gastrointestinal markers. Mol Autism;2024 (Jan 17);15(1):4.

BACKGROUND: Gastrointestinal symptoms and inflammatory gastrointestinal diseases exist at higher rates in the autistic population. It is not clear however whether autism is associated with elevated gastrointestinal inflammation as studies examining non-invasive faecal biomarkers report conflicting findings. To understand the research landscape and identify gaps, we performed a systematic review and meta-analysis of studies measuring non-invasive markers of gastrointestinal inflammation in autistic and non-autistic samples. Our examination focused on faecal biomarkers as sampling is non-invasive and these markers are a direct reflection of inflammatory processes in the gastrointestinal tract. METHODS: We extracted data from case-control studies examining faecal markers of gastrointestinal inflammation. We searched PubMed, Embase, Cochrane CENTRAL, CINAHL, PsycINFO, Web of Science Core Collection and Epistemonikos and forward and backwards citations of included studies published up to April 14, 2023 (PROSPERO CRD42022369279). RESULTS: There were few studies examining faecal markers of gastrointestinal inflammation in the autistic population, and many established markers have not been studied. Meta-analyses of studies examining calprotectin (n = 9) and lactoferrin (n = 3) were carried out. A total of 508 autistic children and adolescents and 397 non-autistic children and adolescents were included in the meta-analysis of calprotectin studies which found no significant group differences (ROM: 1.30 [0.91, 1.86]). Estimated differences in calprotectin were lower in studies with siblings and studies which did not exclude non-autistic controls with gastrointestinal symptoms. A total of 139 autistic participants and 75 non-autistic controls were included in the meta-analysis of lactoferrin studies which found no significant group differences (ROM: 1.27 [0.79, 2.04]). LIMITATIONS: All studies included in this systematic review and meta-analysis examined children and adolescents. Many studies included non-autistic controls with gastrointestinal symptoms which limit the validity of their findings. The majority of studies of gastrointestinal inflammation focused on children under 12 with few studies including adolescent participants. Most studies that included participants aged four or under did not account for the impact of age on calprotectin levels. Future studies should screen for relevant confounders, include larger samples and explore gastrointestinal inflammation in autistic adolescents and adults. CONCLUSIONS: There is no evidence to suggest higher levels of gastrointestinal inflammation as measured by calprotectin and lactoferrin are present in autistic children and adolescents at the population level. Preliminary evidence suggests however that higher calprotectin levels may be present in a subset of autistic participants, who may be clinically characterised by more severe gastrointestinal symptoms and higher levels of autistic traits.

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18. Mei T, Llera A, Forde NJ, van Rooij D, Floris DL, Beckmann CF, Buitelaar JK. Gray matter covariations in autism: out-of-sample replication using the ENIGMA autism cohort. Mol Autism;2024 (Jan 17);15(1):3.

BACKGROUND: Autism spectrum disorder (henceforth autism) is a complex neurodevelopmental condition associated with differences in gray matter (GM) volume covariations, as reported in our previous study of the Longitudinal European Autism Project (LEAP) data. To make progress on the identification of potential neural markers and to validate the robustness of our previous findings, we aimed to replicate our results using data from the Enhancing Neuroimaging Genetics Through Meta-Analysis (ENIGMA) autism working group. METHODS: We studied 781 autistic and 927 non-autistic individuals (6-30 years, IQ ≥ 50), across 37 sites. Voxel-based morphometry was used to quantify GM volume as before. Subsequently, we used spatial maps of the two autism-related independent components (ICs) previously identified in the LEAP sample as templates for regression analyses to separately estimate the ENIGMA-participant loadings to each of these two ICs. Between-group differences in participants’ loadings on each component were examined, and we additionally investigated the relation between participant loadings and autistic behaviors within the autism group. RESULTS: The two components of interest, previously identified in the LEAP dataset, showed significant between-group differences upon regressions into the ENIGMA cohort. The associated brain patterns were consistent with those found in the initial identification study. The first IC was primarily associated with increased volumes of bilateral insula, inferior frontal gyrus, orbitofrontal cortex, and caudate in the autism group relative to the control group (β = 0.129, p = 0.013). The second IC was related to increased volumes of the bilateral amygdala, hippocampus, and parahippocampal gyrus in the autism group relative to non-autistic individuals (β = 0.116, p = 0.024). However, when accounting for the site-by-group interaction effect, no significant main effect of the group can be identified (p > 0.590). We did not find significant univariate association between the brain measures and behavior in autism (p > 0.085). LIMITATIONS: The distributions of age, IQ, and sex between LEAP and ENIGMA are statistically different from each other. Owing to limited access to the behavioral data of the autism group, we were unable to further our understanding of the neural basis of behavioral dimensions of the sample. CONCLUSIONS: The current study is unable to fully replicate the autism-related brain patterns from LEAP in the ENIGMA cohort. The diverse group effects across ENIGMA sites demonstrate the challenges of generalizing the average findings of the GM covariation patterns to a large-scale cohort integrated retrospectively from multiple studies. Further analyses need to be conducted to gain additional insights into the generalizability of these two GM covariation patterns.

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19. Reis SL, Monteiro P. From synaptic dysfunction to atypical emotional processing in autism. FEBS Lett;2024 (Jan 17)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition mainly characterized by social impairments and repetitive behaviors. Among these core symptoms, a notable aspect of ASD is the presence of emotional complexities, including high rates of anxiety disorders. The inherent heterogeneity of ASD poses a unique challenge in understanding its etiological origins, yet the utilization of diverse animal models replicating ASD traits has enabled researchers to dissect the intricate relationship between autism and atypical emotional processing. In this review, we delve into the general findings about the neural circuits underpinning one of the most extensively researched and evolutionarily conserved emotional states: fear and anxiety. Additionally, we explore how distinct ASD animal models exhibit various anxiety phenotypes, making them a crucial tool for dissecting ASD’s multifaceted nature. Overall, to a proper display of fear response, it is crucial to properly process and integrate sensorial and visceral cues to the fear-induced stimuli. ASD individuals exhibit altered sensory processing, possibly contributing to the emergence of atypical phobias, a prevailing anxiety disorder manifested in this population. Moreover, these individuals display distinctive alterations in a pivotal fear and anxiety processing hub, the amygdala. By examining the neurobiological mechanisms underlying fear and anxiety regulation, we can gain insights into the factors contributing to the distinctive emotional profile observed in individuals with ASD. Such insights hold the potential to pave the way for more targeted interventions and therapies that address the emotional challenges faced by individuals within the autism spectrum.

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20. Schmitz I, da Silva A, Bobermin LD, Gonçalves CA, Steiner J, Quincozes-Santos A. The Janus face of antipsychotics in glial cells: Focus on glioprotection. Exp Biol Med (Maywood);2023 (Nov);248(22):2120-2130.

Antipsychotics are commonly prescribed to treat several neuropsychiatric disorders, including schizophrenia, mania in bipolar disorder, autism spectrum disorder, delirium, and organic or secondary psychosis, for example, in dementias such as Alzheimer’s disease. There is evidence that typical antipsychotics such as haloperidol are more effective in reducing positive symptoms than negative symptoms and/or cognitive deficits. In contrast, atypical antipsychotic agents have gained popularity over typical antipsychotics, due to fewer extrapyramidal side effects and their theoretical efficacy in controlling both positive and negative symptoms. Although these therapies focus on neuron-based therapeutic schemes, glial cells have been recognized as important regulators of the pathophysiology of neuropsychiatric disorders, as well as targets to improve the efficacy of these drugs. Glial cells (astrocytes, oligodendrocytes, and microglia) are critical for the central nervous system in both physiological and pathological conditions. Astrocytes are the most abundant glial cells and play important roles in brain homeostasis, regulating neurotransmitter systems and gliotransmission, since they express a wide variety of functional receptors for different neurotransmitters. In addition, converging lines of evidence indicate that psychiatric disorders are commonly associated with the triad neuroinflammation, oxidative stress, and excitotoxicity, and that glial cells may contribute to the gliotoxicity process. Conversely, glioprotective molecules attenuate glial damage by generating specific responses that can protect glial cells themselves and/or neurons, resulting in improved central nervous system (CNS) functioning. In this regard, resveratrol is well-recognized as a glioprotective molecule, including in clinical studies of schizophrenia and autism. This review will provide a summary of the dual role of antipsychotics on neurochemical parameters associated with glial functions and will highlight the potential activity of glioprotective molecules to improve the action of antipsychotics.

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21. Shen YI, Cheng KC, Wei YJ, Lee IR. Structural Dynamics Role of AGG Interruptions in Inhibition CGG Repeat Expansion Associated with Fragile X Syndrome. ACS Chem Neurosci;2024 (Jan 17);15(2):230-235.

Abnormal expansion of trinucleotide CGG repeats is responsible for Fragile X syndrome. AGG interruptions in CGG repeat tracts were found in most healthy individuals, suggesting a crucial role in preventing disease-prone repeat expansion. Previous biophysics studies emphasize a difference in the secondary structure affected by AGG interruptions. However, the mechanism of how AGG interruptions impede repeat expansion remains elusive. We utilized single-molecule fluorescence resonance energy transfer spectroscopy to investigate the structural dynamics of CGG repeats and their AGG-interrupted variants. Tandem CGG repeats fold into a stem-loop hairpin structure with the capability to undergo a conformational rearrangement to modulate the length of the overhang. However, this conformational rearrangement is much more retarded when two AGG interruptions are present. Considering the significance of hairpin slippage in repeat expansion, we present a molecular basis suggesting that the internal loop created by two AGG interruptions acts as a barrier, obstructing the hairpin slippage reconfiguration. This impediment potentially plays a crucial role in curbing abnormal expansion, thereby contributing to the genomic stability.

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22. Tasnim A, Alkislar I, Hakim R, Turecek J, Abdelaziz A, Orefice LL, Ginty DD. The developmental timing of spinal touch processing alterations predicts behavioral changes in genetic mouse models of autism spectrum disorders. Nat Neurosci;2024 (Jan 17)

Altered somatosensory reactivity is frequently observed among individuals with autism spectrum disorders (ASDs). Here, we report that although multiple mouse models of ASD exhibit aberrant somatosensory behaviors in adulthood, some models exhibit altered tactile reactivity as early as embryonic development, whereas in others, altered reactivity emerges later in life. Additionally, tactile overreactivity during neonatal development is associated with anxiety-like behaviors and social behavior deficits in adulthood, whereas tactile overreactivity that emerges later in life is not. The locus of circuit disruption dictates the timing of aberrant tactile behaviors, as altered feedback or presynaptic inhibition of peripheral mechanosensory neurons leads to abnormal tactile reactivity during neonatal development, whereas disruptions in feedforward inhibition in the spinal cord lead to touch reactivity alterations that manifest later in life. Thus, the developmental timing of aberrant touch processing can predict the manifestation of ASD-associated behaviors in mouse models, and differential timing of sensory disturbance onset may contribute to phenotypic diversity across individuals with ASD.

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23. Tener SJ, Lin Z, Park SJ, Oraedu K, Ulgherait M, Van Beek E, Martínez-Muñiz A, Pantalia M, Gatto JA, Volpi J, Stavropoulos N, Ja WW, Canman JC, Shirasu-Hiza M. Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder. Sci Rep;2024 (Jan 17);14(1):1541.

Mutations in Cullin-3 (Cul3), a conserved gene encoding a ubiquitin ligase, are strongly associated with autism spectrum disorder (ASD). Here, we characterize ASD-related pathologies caused by neuron-specific Cul3 knockdown in Drosophila. We confirmed that neuronal Cul3 knockdown causes short sleep, paralleling sleep disturbances in ASD. Because sleep defects and ASD are linked to metabolic dysregulation, we tested the starvation response of neuronal Cul3 knockdown flies; they starved faster and had lower triacylglyceride levels than controls, suggesting defects in metabolic homeostasis. ASD is also characterized by increased biomarkers of oxidative stress; we found that neuronal Cul3 knockdown increased sensitivity to hyperoxia, an exogenous oxidative stress. Additional hallmarks of ASD are deficits in social interactions and learning. Using a courtship suppression assay that measures social interactions and memory of prior courtship, we found that neuronal Cul3 knockdown reduced courtship and learning compared to controls. Finally, we found that neuronal Cul3 depletion alters the anatomy of the mushroom body, a brain region required for memory and sleep. Taken together, the ASD-related phenotypes of neuronal Cul3 knockdown flies establish these flies as a genetic model to study molecular and cellular mechanisms underlying ASD pathology, including metabolic and oxidative stress dysregulation and neurodevelopment.

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24. Thomas HR, Sirsikar A, Eigsti IM. Brief Report: Convergence and Discrepancy Between Self- and Informant-Reported Depressive Symptoms in Young Autistic Adults. J Autism Dev Disord;2024 (Jan 17)

PURPOSE: Autistic individuals exhibit elevated rates of depression; however, assessment is complicated by clinical presentations and limited validation in this population. Recent work has demonstrated the utility of the Beck Depression Inventory (BDI-II) in screening for depression in ASD. The current study extends this work by examining the convergence and divergence of self- and informant-reported depression in autistic (n = 258) and non-autistic (n = 255) young adults. METHODS: Participants completed the BDI-II as a self-report measure of depression; informants completed the Achenbach Adult Behavior Checklist. Analyses probed for between-group differences in rates of depression symptoms, convergence between self- and informant-reported depression, and discrepancy between self- and informant-reported depression. RESULTS: Results indicated significantly higher rates of depressive symptoms in the autistic group. Convergence was significant in both groups, with significantly greater agreement in the autistic group. There was differential divergence, with the autistic group reporting significantly lower scores relative to informants, and the non-autistic group reporting significantly higher scores relative to informants. CONCLUSIONS: Consistent with prior reports, results suggest that depression rates are elevated in autism. Additionally, while the BDI-II may be adequate for screening depressive symptoms in speaking autistic young adults, eliciting information from a close adult informant provides valuable diagnostic information, due to clinically critical concerns about underreporting in this population. Although controlled in analyses, between-group differences in gender, age, race, and informant identity, and a predominantly White and non-Latinx sample, limit the generalizability of these results.

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25. Tovin MM, Nunez-Gaunaurd A. Implementation of Peer-Assisted Physical Activity via Telehealth for Adults on the Autism Spectrum: A Mixed Methods Feasibility Study. Phys Ther;2024 (Jan 17)

OBJECTIVE: Adults on the autism spectrum are at risk for physical inactivity, obesity, and related health conditions. Physical activity provides physical, social, and mental health benefits across the lifespan. Previous research examined feasibility and effectiveness of physical activity intervention in autistic children, but very few studies target autistic adults. This study examined the feasibility and acceptability of Physical Activity Connections via Telehealth (PACT), implemented during the COVID-19 pandemic lockdown as an alternative to in-person programming for autistic adults aged 18 to 32. METHODS: The 10-week intervention utilized telehealth and remote technologies to deliver a theoretically grounded program to improve physical activity. Strategies included peer-guidance, coaching, individualized wellness goals, customized exercise programs, and wearable activity trackers. Feasibility and acceptability were examined using a mixed-methods design including observational and survey data collection, as well as participant interviews. Data were analyzed using descriptive statistics and content analysis. RESULTS: Findings support feasibility and acceptability of telehealth to promote physical activity among autistic adults who have cognitive capacity and ability to utilize remote technology, with applicability beyond pandemic-imposed challenges. CONCLUSION: Telehealth delivery of physical activity interventions is a viable alternative to in-person programs and may enable autistic adults to overcome barriers to physical activity participation and access. IMPACT: As the rate of autism continues to rise globally, rehabilitation professionals will play a significant role in promoting health and wellness for autistic individuals across the lifespan. Findings promote informed practice based on the health needs of this growing segment of society.

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26. Tsuji Y, Imaizumi S. Autistic traits and speech perception in social and non-social noises. Sci Rep;2024 (Jan 16);14(1):1414.

Individuals with the autism spectrum disorder (ASD) experience difficulties in perceiving speech in background noises with temporal dips; they also lack social orienting. We tested two hypotheses: (1) the higher the autistic traits, the lower the performance in the speech-in-noise test, and (2) individuals with high autistic traits experience greater difficulty in perceiving speech, especially in the non-vocal noise, because of their attentional bias toward non-vocal sounds. Thirty-eight female Japanese university students participated in an experiment measuring their ability to perceive speech in the presence of noise. Participants were asked to detect Japanese words embedded in vocal and non-vocal background noises with temporal dips. We found a marginally significant effect of autistic traits on speech perception performance, suggesting a trend that favors the first hypothesis. However, caution is needed in this interpretation because the null hypothesis is not rejected. No significant interaction was found between the types of background noise and autistic traits, indicating that the second hypothesis was not supported. This might be because individuals with high autistic traits in the general population have a weaker attentional bias toward non-vocal sounds than those with ASD or to the explicit instruction given to attend to the target speech.

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27. Üblagger D, Auer H, Bezakova M, Kirchlechner V. Toxocarosis in a patient with autism spectrum disorder presenting with severe hypereosinophilia and acute respiratory distress: a case report. Parasitol Res;2024 (Jan 17);123(1):99.

A boy with known autism spectrum disorder was transferred to our department due to a rapidly worsening respiratory situation. The patient’s history revealed previous treatment with albendazole against a Toxocara infection 2 weeks prior in Poland. Blood analysis showed such severe eosinophilia and markedly elevated levels of IgE that, initially, a hematologic malignancy was suspected. However, diagnostic workup including autoimmune diagnostic, molecular genetic testing, fluorescence in situ hybridization (FISH), bone marrow aspiration, and parasitological testing led to the diagnosis of an insufficiently treated Toxocara infection. Treatment with albendazole and prednisone (six cycles for 4 weeks each) was administered. This treatment regime led to prompt improvement of symptoms and normalization of laboratory findings.

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