1. Adiani D, Breen M, Migovich M, Wade J, Hunt S, Tauseef M, Khan N, Colopietro K, Lanthier M, Swanson A, Vogus TJ, Sarkar N. Multimodal job interview simulator for training of autistic individuals. Assist Technol;2024 (Jan 2);36(1):22-39.

Autistic individuals face difficulties in finding and maintaining employment, and studies have shown that the job interview is often a significant barrier to obtaining employment. Prior computer-based job interview training interventions for autistic individuals have been associated with better interview outcomes. These previous interventions, however, do not leverage the use of multimodal data that could give insight into the emotional underpinnings of autistic individuals’ challenges in job interviews. In this article, the authors present the design of a novel multimodal job interview training platform called CIRVR that simulates job interviews through spoken interaction and collects eye gaze, facial expressions, and physiological responses of the participants to understand their stress response and their affective state. Results from a feasibility study with 23 autistic participants who interacted with CIRVR are presented. In addition, qualitative feedback was gathered from stakeholders on visualizations of data on CIRVR’s visualization tool called the Dashboard. The data gathered indicate the potential of CIRVR along with the Dashboard to be used in the creation of individualized job interview training of autistic individuals.

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2. Ashwood P. Though shall not pass: Blocking lymphocytes from recirculating to the gut as a potential therapeutic approach for autism. Brain Behav Immun;2023 (Dec 28);116:402-403.

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3. Berenguer C, Baixauli I, Rosa E, De Stasio S. Sleep problems in children with autism spectrum disorder and attention-deficit/hyperactivity disorder: A comparative study and effects on communication skills. Autism Res;2023 (Dec 29)

Sleep disturbances are highly prevalent among children with neurodevelopmental disorders, like Autism Spectrum Disorder (ASD) and Attention-Deficit/Hiperactivity Disorder (ADHD). The first objective of this study is to examine the differences in sleep problems between a group of children with ASD without intellectual disabilities, a group with ADHD and a typically developing (TD) group. A second objective is aimed at analyzing the effects of sleep problems and symptom severity on their communication skills. Participants were 122 children between 7 and 12 years old distributed in three groups: 32 TD children, 47 children with ASD and 43 children with ADHD, matched on age and intelligence. Parents completed different questionnaires that measured sleep disturbances and communication skills. Findings show significant differences between the clinical groups and the TD group in most types of sleep disorders. Moreover, the group with ADHD showed significantly more sleep breathing disorders and hyperhidrosis in comparison with ASD and TD, as well as more total sleep problems. In contrast to ASD, the predictive power of sleep problems on communication difficulties was greater in the group with ADHD. The results of the mediation analysis indicate that in both groups, sleep problems partially mediate the relationship between symptoms and communication. This investigation highlights the need of considering sleep disorders when assessing communication skills in ASD and ADHD, given its indirect influence in this domain. Understanding the sleep dysfunctions of both conditions and their repercussions is crucial to develop adjusted interventions.

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4. Garvanska DH, Alvarado RE, Mundt FO, Lindqvist R, Duel JK, Coscia F, Nilsson E, Lokugamage K, Johnson BA, Plante JA, Morris DR, Vu MN, Estes LK, McLeland AM, Walker J, Crocquet-Valdes PA, Mendez BL, Plante KS, Walker DH, Weisser MB, Överby AK, Mann M, Menachery VD, Nilsson J. The NSP3 protein of SARS-CoV-2 binds fragile X mental retardation proteins to disrupt UBAP2L interactions. EMBO Rep;2024 (Jan 2)

Viruses interact with numerous host factors to facilitate viral replication and to dampen antiviral defense mechanisms. We currently have a limited mechanistic understanding of how SARS-CoV-2 binds host factors and the functional role of these interactions. Here, we uncover a novel interaction between the viral NSP3 protein and the fragile X mental retardation proteins (FMRPs: FMR1, FXR1-2). SARS-CoV-2 NSP3 mutant viruses preventing FMRP binding have attenuated replication in vitro and reduced levels of viral antigen in lungs during the early stages of infection. We show that a unique peptide motif in NSP3 binds directly to the two central KH domains of FMRPs and that this interaction is disrupted by the I304N mutation found in a patient with fragile X syndrome. NSP3 binding to FMRPs disrupts their interaction with the stress granule component UBAP2L through direct competition with a peptide motif in UBAP2L to prevent FMRP incorporation into stress granules. Collectively, our results provide novel insight into how SARS-CoV-2 hijacks host cell proteins and provides molecular insight into the possible underlying molecular defects in fragile X syndrome.

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5. Goswami M, Bhatara S, Bhatara M, Singh SR. Parental perspectives on oral health-related quality of life in children and adolescents with autism spectrum disorder: A systematic review. Spec Care Dentist;2023 (Dec 29)

BACKGROUND: Children with autism spectrum disorder (ASD) face unique challenges related to oral health, which can negatively impact their day-to-day lives, significantly compromising their overall quality of life. Primary caregivers of children with ASD have a critical role in delivering and seeking oral health care. Hence, it is vital to study their perspective towards their children’s oral health and its impact on their quality of life. AIM: To explore the parental perception of oral health-related quality of life in children with autism. METHODS: A systematic electronic and manual search was conducted in Medline (via PubMed), Embase, Google Scholar, Scopus, and LILACS of articles published from January 2003 to May 2023 using appropriate MeSH terms, keywords, and other terms. A four-phase study selection process was followed according to PRISMA guidelines, and data extraction and synthesis were performed using an extraction form. The selected studies were critically appraised using the QATSDD and Crombie’s assessment tool. The inter-reviewer agreement was assessed using the kappa with a linear weighting coefficient. RESULTS: Out of the 885 results, 15 studies were included in the review after the two selection phases, and the study characteristics were summarized in tabular form. Study quality varied considerably, and out of a total possible QATSDD score of 42, scores for the individual studies ranged from 14 to 40. The risk of bias for the seven criteria was found to be low. CONCLUSION: The parental perception of the OHRQoL in children with ASD is poor, and the most significant perceived impact is on the child’s functional and social well-being aspects. Parental-Caregiver Perception Questionnaire was the most commonly used. The most frequent symptoms include bad breath, food lodgment, mouth breathing and night grinding. The familial impact and influence on the OHRQoL of siblings were also studied.

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6. Grandits JB, Kent HW, Sanborn SM, Pilcher JJ. The effect of compression on repetitive behaviors and task participation in children with autism spectrum disorder. Front Psychol;2023;14:1292439.

Compression clothes are marketed to relieve anxiety and decrease hyperactivity in children with autism. However, few studies have examined the impact of compression for individuals with autism spectrum disorder (ASD). In this study, nine children with autism were observed during Applied Behavioral Analysis therapy sessions while wearing compression clothing. The participants were randomly assigned to wear compression clothing for either their first five sessions or their last five sessions. Videos of the therapy sessions were reviewed and each child’s « off task » behavior was identified in the following domains: motor, verbal, and visual. In addition, frequency of the child’s repetitive behaviors and external visual stimuli were recorded. The compression clothes failed to increase task participation or reduce the participants’ repetitive behavior suggesting that the clothing may not contribute to professional practice of ABA therapy.

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7. Harel Z, Jeyakumar N, Kang Y, Velez MP, Dayan N, Ray JG. Periconceptional Serum Creatinine and Risk of Childhood Autism Spectrum Disorder: A Research Letter. Can J Kidney Health Dis;2024;11:20543581231221892.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition that manifests in early childhood, in which the maternal metabolic syndrome may be a risk factor. The kidney is a barometer of maternal metabolic syndrome duration and severity. OBJECTIVE: The main objective of this study is to determine whether periconceptional kidney function is associated with ASD in early childhood. DESIGN SETTING AND PARTICIPANTS: This retrospective population-based cohort study was completed in Ontario, Canada. Included were singleton children born in an Ontario hospital between April 2007 and March 2021, who were alive at age 48 months and whose mother had a recorded prepregnancy body mass index (BMI) and a measured serum creatinine (SCr) between 120 days preconception and 28 days postconception. MEASUREMENT: The main study outcome was a diagnosis of ASD between ages 24 and 48 months. METHODS: Relative risks (RRs) of ASD in association with periconceptional SCr were generated using modified Poisson regression and adjusted for several confounders. RESULTS: The cohort comprised 86 054 women, who had 89 677 liveborn children surviving to at least 48 months of age. There was no significant association between periconceptional SCr and ASD (RR: 0.86; 95 % confidence interval: [0.67, 1.10]). LIMITATIONS: Selection bias may have arisen had SCr been ordered on clinical grounds. CONCLUSIONS: Further study is warranted to determine whether prepregnancy glomerular hyperfiltration is a marker of ASD and other behavioral conditions in childhood. To do so, a more accurate measure of hyperfiltration is needed than SCr.

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8. Hargreave M, Jezek AH, Hemmingsen CH, Andersen EA, Pagsberg AK, Holmberg T, Mørch LS, Kjaer SK. Maternal use of hormonal contraception and risk of childhood autism spectrum disorders: A Parental Exposures and Child Health (PECH) cohort study. Psychiatry Res;2023 (Dec 25);332:115695.

A recent hypothesis suggests that maternal hormonal contraception use has contributed to the increasing incidence of autism spectrum disorders (ASD). We used a nationwide population-based cohort (the PECH cohort) including 1,056,149 Danish children born in the period January 1, 1998, to December 31, 2014, to assess associations between maternal hormonal contraception use and childhood ASD (end of follow-up: December 31, 2017). Maternal hormonal contraception use was grouped as « recent use » (≤ 3 months before pregnancy start or during pregnancy), « previous use » (>3 months before pregnancy start) and « never use », except for few products. Incidence rate ratios (IRRs) were estimated using Poisson regression. During follow-up of nearly 12 million person-years, 19,996 children were diagnosed with ASD. A slightly higher IRR was observed for maternal recent use of any hormonal contraception, compared to previous use. This association was largely driven by the non-oral progestin-only products, and associations were especially seen for infantile autism and other/unspecified ASD. An increased IRR of infantile autism was also observed for recent use of the oral progestin-only products, compared to previous use. Our results suggest that maternal use of hormonal contraception may be associated with ASD risk in children, especially for the progestin-only products.

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9. Hegemann L, Bugge Askeland R, Barbo Valand S, Øyen AS, Schjølberg S, Bal VH, Bishop SL, Stoltenberg C, von Soest T, Hannigan LJ, Havdahl A. Measuring autism-associated traits in the general population: Factor structure and measurement invariance across sex and diagnosis status of the Social Communication Questionnaire. Autism;2023 (Dec 30):13623613231219306.

Using questionnaires in research relies on the expectation that they measure the same things across different groups of individuals. If this is not true, then interpretations of results can be misleading when researchers compare responses across different groups of individuals or use in it a group that differs from that in which the questionnaire was developed. For the questionnaire we investigated, the Social Communication Questionnaire (SCQ), we found that parents of boys and girls responded to questionnaire items in largely the same way but that the SCQ measured traits and behaviors slightly differently depending on whether the children had autism. Based on these results, we concluded that researchers using this questionnaire should carefully consider these differences when deciding how to interpret findings. SCQ scores as a reflection of « autism-associated traits » in samples that are mostly or entirely made up of individuals without an autism diagnosis may be misleading and we encourage a more precise interpretation of scores as a broader indication of social-communicative and behavioral traits.

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10. Hu Z, Muller B, Slone JS, Inaba H. Cough, Neck Pain, and Right Facial Paralysis in a 14-year-old with Autism. Pediatr Rev;2024 (Jan 1);45(1):47-51.

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11. Huber A, Sarne V, Beribisky AV, Ackerbauer D, Derdak S, Madritsch S, Etzler J, Huck S, Scholze P, Gorgulu I, Christodoulou J, Studenik CR, Neuhaus W, Connor B, Laccone F, Steinkellner H. Generation and characterization of a human neuronal in vitro model for Rett Syndrome using a direct reprogramming method. Stem Cells Dev;2024 (Jan 2)

Rett Syndrome (RTT) is a severe neurodevelopmental disorder, afflicting 1 in 10,000 female births. It is caused by mutations in the X-linked MECP2 gene, which encodes for the global transcriptional regulator MeCP2. As human brain samples of RTT patients are scarce and cannot be used for downstream studies, there is a pressing need for in vitro modeling of pathological neuronal changes. Here, we employ a direct reprogramming method for the generation of neuronal cells from MeCP2-deficient and wildtype human dermal fibroblasts using two episomal plasmids encoding the transcription factors SOX2 and PAX6. We demonstrated that the obtained neurons exhibit a typical neuronal morphology and express the appropriate marker proteins. RNA sequencing confirmed neuronal identity of the obtained MeCP2-deficient and wildtype neurons. Furthermore, these MeCP2-deficient neurons reflect the pathophysiology of RTT in vitro, with diminished dendritic arborization and hyperacetylation of histone H3 and H4. Treatment with MeCP2, tethered to the cell penetrating peptide TAT, ameliorated hyperacetylation of H4K16 in MeCP2-deficient neurons, which strengthens the RTT relevance of this cell model. We generated a neuronal model based on direct reprogramming derived from patient fibroblasts, providing a powerful tool to study disease mechanisms and investigating novel treatment options for RTT.

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12. Jung E, Lee T, Kim J, Kim HW. Children’s and Parents’ Factors That Affect Parenting Stress in Preschool Children With Developmental Disabilities or Typical Development. Psychiatry Investig;2023 (Dec);20(12):1157-1167.

OBJECTIVE: This study compared parenting stress in preschool children with developmental disabilities (DD) or typical development (TD). We also investigated children’s factors that affect parenting stress. METHODS: A total of 196 preschool children participated in the study (aged 54.8±9.2 months). There were 79 children with DD (59 with autism spectrum disorder, 61 with intellectual disability, 12 with language disorder) and 117 with TD. The high parenting stress and the low parenting stress groups were divided based on the Total Stress of Korean Parenting Stress Index Fourth Edition (K-PSI-4) with an 85-percentile cutoff score. Pearson’s correlation analysis was conducted to calculate the correlation between K-PSI-4 and the children’s or parents’ measures. RESULTS: The difference in parenting stress between DD and TD was significant in the Total Stress of K-PSI-4 (p<0.001). The Total Stress scale of K-PSI-4 represented a modest to strong correlation with cognitive development, adaptive functioning, social communication, and behavioral problems in children with DD. Our results showed that caregivers of children with DD reported higher parenting stress than those with TD. Parenting stress was strongly associated with cognitive development, adaptive functioning, social communication, and behavioral problems in children with DD. Among the children's factors, especially social communication, attention problems, and aggressive behavior had association with caregivers' higher parenting stress. CONCLUSION: These findings suggest the need for early intervention for parenting stress in caregivers by assessing child characteristics, including social cognition, awareness, communication, and inattention and hyperactivity, in the evaluation of children with DD.

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13. Klitzman R, Bezborodko E, Chung WK, Appelbaum PS. Impact of Receiving Genetic Diagnoses on Parents’ Perceptions of Their Children with Autism and Intellectual Disability. J Autism Dev Disord;2023 (Dec 29)

To assess whether genetic test results identifying the cause of a child’s autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving genetic diagnoses indicating a de novo mutation through the Simons Foundation Powering Autism Research for Knowledge study. Diagnosis of a de novo genetic variant can alter parental perceptions of offspring with autism and other NDDs. Parents often blamed their child less, saw their child as less in control of symptoms, and developed more patience, framing expectations accordingly. Parents had mixed feelings about receiving genetic diagnoses, with sadness sometimes accompanying reframed expectations. Genetic diagnoses could change views of the child among extended family members, teachers, social service agencies, insurers, and broader communities and society. Genetic testing might also reduce delays in diagnoses of autism among African American, Latino and other children. These data, the first to examine several critical aspects of how parents and others view children with autism and other NDDs after receiving genetic diagnoses, highlight vital needs for education of multiple stakeholders (including geneticists, other physicians, genetic counselors, parents, individuals with autism, social service agencies, insurers, policymakers, and the broader public), research (to include perspectives of extended family members, insurers, social service agencies and teachers) and practice (to increase recognition and awareness of the potential benefits and effects of genetic testing for such children).

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14. Kordbagheri M, Kordbagheri A, Tayim N, Davoudi M. Evaluation of the psychometric indicators of the Comprehensive Autistic Trait Inventory in Iranian adults. Asian J Psychiatr;2023 (Dec 20);91:103885.

BACKGROUND: The DSM-5’s Comprehensive Autism Traits Inventory (CATI) was a useful diagnostic tool for the general population because it covered all the critical aspects of autism. However, its reliability and validity in the overall Iranian population still need to be investigated. PURPOSE: We reviewed the inventory and estimated the validity and reliability of the Iranian version of CATI among 1800 adults. METHODS: The Persian version of CATI (CATI-I) was administered to 1800 Iranian adults using the online Star Questionnaire system. Internal consistency, convergent validity, discriminant validity, test-retest reliability, and measurement invariance across genders were calculated. RESULTS: The Correlated social & non-social bifactor model showed the best fit in the Iranian community (CFI=.966; TLI=.947; RMSEA=.045; SRMR=.028). Ultimately, the CATI-I scale in the Iranian community consisted of 39 items across six factors and two higher-order constructs. Additionally, the CATI-I scale’s convergent validity and reliability values were acceptable. CONCLUSION: The CATI-I demonstrates satisfactory reliability and validity in measuring autism traits. It is an appropriate model for the second-order social and non-social factors, and it also shows measurement invariance across genders.

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15. Li C, Zhang R, Zhou Y, Li T, Qin R, Li L, Yuan X, Wang L, Wang X. Gray matter asymmetry alterations in children and adolescents with comorbid autism spectrum disorder and attention-deficit/hyperactivity disorder. Eur Child Adolesc Psychiatry;2023 (Dec 30)

Despite the high coexistence of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) (ASD + ADHD), the underlying neurobiological basis of this disorder remains unclear. Altered brain structural asymmetries have been verified in ASD and ADHD, respectively, making brain asymmetry a candidate for characterizing this coexisting disorder. Here, we measured the gray matter (GM) volume asymmetry in ASD + ADHD versus ASD without ADHD (ASD-only), ADHD without ASD (ADHD-only), and typically developing controls (TDc). High-resolution T1-weighted data from 48 ASD + ADHD, 63 ASD-only, 32 ADHD-only, and 211 matched TDc were included in our study. We also assessed brain-behavior relationships and the effects of age on GM asymmetry. We found that there were both shared and disorder-specific GM volume asymmetry alterations in ASD + ADHD, ASD-only, and ADHD-only compared with TDc. This finding demonstrates that ASD + ADHD is neither an endophenocopy nor an additive pathology of ASD and ADHD, but an entirely different neuroanatomical pathology. In addition, ASD + ADHD displayed altered GM volume asymmetries in the prefrontal regions responsible for executive function and theory of mind compared with ASD-only. We also found significant effects of age on GM asymmetry. The present study may provide structural insights into the neural basis of ASD + ADHD.

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16. Li Z, Liu S, Liu F, Dai N, Liang R, Lv S, Bao L. Gut microbiota and autism spectrum disorders: a bidirectional Mendelian randomization study. Front Cell Infect Microbiol;2023;13:1267721.

BACKGROUND: In recent years, observational studies have provided evidence supporting a potential association between autism spectrum disorder (ASD) and gut microbiota. However, the causal effect of gut microbiota on ASD remains unknown. METHODS: We identified the summary statistics of 206 gut microbiota from the MiBioGen study, and ASD data were obtained from the latest Psychiatric Genomics Consortium Genome-Wide Association Study (GWAS). We then performed Mendelian randomization (MR) to determine a causal relationship between the gut microbiota and ASD using the inverse variance weighted (IVW) method, simple mode, MR-Egger, weighted median, and weighted model. Furthermore, we used Cochran’s Q test, MR-Egger intercept test, Mendelian Randomization Pleiotropy RESidual Sum and Outlier (MR-PRESSO), and leave-one-out analysis to identify heterogeneity and pleiotropy. Moreover, the Benjamin-Hochberg approach (FDR) was employed to assess the strength of the connection between exposure and outcome. We performed reverse MR analysis on the gut microbiota that were found to be causally associated with ASD in the forward MR analysis to examine the causal relationships. The enrichment analyses were used to analyze the biological function at last. RESULTS: Based on the results of IVW results, genetically predicted family Prevotellaceae and genus Turicibacter had a possible positive association with ASD (IVW OR=1.14, 95% CI: 1.00-1.29, P=3.7×10(-2)), four gut microbiota with a potential protective effect on ASD: genus Dorea (OR=0.81, 95% CI: 0.69-0.96, P=1.4×10(-2)), genus Ruminiclostridium5 (OR=0.81, 95% CI: 0.69-0.96, P=1.5×10(-2)), genus Ruminococcus1 (OR=0.83, 95% CI: 0.70-0.98, P=2.8×10(-2)), and genus Sutterella (OR=0.82, 95% CI: 0.68-0.99, P=3.6×10(-2)). After FDR multiple-testing correction we further observed that there were two gut microbiota still have significant relationship with ASD: family Prevotellaceae (IVW OR=1.24; 95% CI: 1.09-1.40, P=9.2×10(-4)) was strongly positively correlated with ASD and genus RuminococcaceaeUCG005 (IVW OR=0.78, 95% CI: 0.67-0.89, P=6.9×10(-4)) was strongly negatively correlated with ASD. The sensitivity analysis excluded the influence of heterogeneity and horizontal pleiotropy. CONCLUSION: Our findings reveal a causal association between several gut microbiomes and ASD. These results deepen our comprehension of the role of gut microbiota in ASD’s pathology, providing the foothold for novel ideas and theoretical frameworks to prevent and treat this patient population in the future.

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17. Lin QQ, Wu XY, Tan HH, Huang Y, Zhuang DY. [A case of immunoskeletal dysplasia with neurodevelopmental abnormalities]. Zhonghua Er Ke Za Zhi;2024 (Jan 2);62(1):76-77.

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18. Liu QQ, Mi J, Du YY, Rong Z, Qin Y, Jiang W, Li X, Yu JY, Yang L, Du XY, Yang Q, Guo YY. Lotusine ameliorates propionic acid-induced autism spectrum disorder-like behavior in mice by activating D1 dopamine receptor in medial prefrontal cortex. Phytother Res;2024 (Jan 2)

Autism spectrum disorder (ASD) is a multifaceted neuropsychiatric condition for which effective drug therapy for core clinical symptoms remains elusive. Lotusine, known for its neuroprotective properties in the treatment of neurological disorders, holds potential in addressing ASD. Nevertheless, its specific efficacy in ASD remains uncertain. This study aims to investigate the therapeutic potential of lotusine in ASD and elucidate the underlying molecular mechanisms. We induced an ASD mouse model through intracerebroventricular-propionic acid (ICV-PPA) injection for 7 days, followed by lotusine administration for 5 days. The efficacy of lotusine was evaluated through a battery of behavioral tests, including the three-chamber social test. The underlying mechanisms of lotusine action in ameliorating ASD-like behavior were investigated in the medial prefrontal cortex (mPFC) using whole-cell patch-clamp recordings, western blotting, immunofluorescence staining, molecular docking, and cellular thermal shift assay. The efficacy and mechanisms of lotusine were further validated in vitro. Lotusine effectively alleviated social deficits induced by ICV-PPA injection in mice by counteracting the reduction in miniature excitatory postsynaptic current frequency within the mPFC. Moreover, lotusine enhanced neuronal activity and ameliorated α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor dysfunction in ICV-PPA infusion mice by upregulating c-fos, p-GluA1 Ser 845, and p-GluA1 Ser 831 protein levels within the mPFC. Our findings also suggest that lotusine may exert its effects through modulation of the D1 dopamine receptor (DRD1). Furthermore, the rescuing effects of lotusine were nullified by a DRD1 antagonist in PC12 cells. In summary, our results revealed that lotusine ameliorates ASD-like behavior through targeted modulation of DRD1, ultimately enhancing excitatory synaptic transmission. These findings highlight the potential of lotusine as a nutritional supplement in the treatment of ASD.

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19. Moerkerke M, Daniels N, Tibermont L, Tang T, Evenepoel M, Van der Donck S, Debbaut E, Prinsen J, Chubar V, Claes S, Vanaudenaerde B, Willems L, Steyaert J, Boets B, Alaerts K. Chronic oxytocin administration stimulates the oxytocinergic system in children with autism. Nat Commun;2024 (Jan 2);15(1):58.

Clinical efficacy of intranasal administration of oxytocin is increasingly explored in autism spectrum disorder, but to date, the biological effects of chronic administration regimes on endogenous oxytocinergic function are largely unknown. Here exploratory biological assessments from a completed randomized, placebo-controlled trial showed that children with autism (n = 79, 16 females) receiving intranasal oxytocin for four weeks (12 IU, twice daily) displayed significantly higher salivary oxytocin levels 24 hours after the last oxytocin nasal spray administration, but no longer at a four-week follow up session. Regarding salivary oxytocin receptor gene (OXTR) epigenetics (DNA-methylation), oxytocin-induced reductions in OXTR DNA-methylation were observed, suggesting a facilitation of oxytocin receptor expression in the oxytocin compared to the placebo group. Notably, heightened oxytocin levels post-treatment were significantly associated with reduced OXTR DNA-methylation and improved feelings of secure attachment. These findings indicate that four weeks of chronic oxytocin administration stimulated the endogenous oxytocinergic system in children with autism.

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20. Nordin V, Palmgren M, Lindbladh A, Bölte S, Jonsson U. School absenteeism in autistic children and adolescents: A scoping review. Autism;2023 (Dec 30):13623613231217409.

Autistic children and teenagers are, on average, absent from school more than their peers. The aim of this review was to provide an overview of the research on absence from school in autistic learners in primary and secondary school, to help guide future research. We sifted through 4632 reports and found 42 studies with a focus on school absence and autism. We looked at how, when, and where the studies were conducted. We also summarized the results and outlined how absence was measured in the studies. Absence from school may lead to problems later in life, like incomplete education and unemployment. It is therefore important to know how common this problem is among autistic learners, what the reasons may be, and what type of support they need. The studies were from high-income countries and were mainly published in the last 10 years. Studies based on school registers from the United States and the United Kingdom clearly showed that children and teenagers with autism had higher risk of school absence than those without autism. Absence was often linked to problems with mental health or additional neurodevelopmental conditions. Several studies also showed that absence in autistic children and adolescents was related to problems in school, like bullying or lack of knowledge about autism. Support programs were only evaluated in a few studies with a small number of study participants. We conclude that more research is needed to better understand why autistic learners are absent and what they need to thrive in school.

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21. Pickard K, Maddox B, Boles R, Reaven J. A cluster randomized controlled trial comparing the effectiveness of two school-based interventions for autistic youth with anxiety. BMC Psychiatry;2024 (Jan 2);24(1):6.

BACKGROUND: Recent systematic reviews have indicated that cognitive behavioral therapy (CBT) is effective in reducing anxiety symptoms for autistic and non-autistic children. However, the vast majority of CBT research for autistic youth has been implemented within university settings and primarily by mental health providers. Schools hold great promise to equitably manage the mental health symptoms of autistic youth. Although preliminary research evaluating CBT within schools has been promising, CBT has not yet been compared to another readily available school mental health program. The goal of this protocol paper is to describe a multi-site study comparing two school-based interventions, Facing Your Fears-School Based (FYF-SB) and Zones of Regulation (ZOR) via a cluster randomized controlled type 1 hybrid effectiveness-implementation trial to determine which of the two interventions will best support autistic youth with anxiety in schools. METHODS: Up to 100 elementary and middle schools will be randomized into FYF-SB or ZOR. Once schools are randomized, a minimum of two interdisciplinary school providers at each school will be trained to deliver either FYF-SB or ZOR over the course of 12 weeks to groups of 2-5 autistic students ages 8-14 years. Over the course of two years, a total of 200 autistic students will receive either ZOR or FYF-SB. The primary outcome of this trial is child anxiety, as rated by masked evaluators and via caregiver- and student-report, which will be measured at baseline, post-treatment, and 6-month follow-up. Semi-structured interviews will also be conducted with a purposive sample of students, caregivers, and school providers to understand the acceptability, appropriateness, and feasibility of either ZOR or FYF-SB. Stakeholder engagement is a central component of this project via two stakeholder advisory boards that will directly inform and oversee the project. DISCUSSION: Results of this study will provide evidence about the relative impact of two school-based mental health interventions on outcomes reported as meaningful by caregivers and school providers. The additional focus on evaluating factors that support the implementation of FYF-SB and ZOR will allow future studies to test targeted implementation strategies that support mental health programming uptake and implementation within public schools. TRIAL REGISTRATION: This trial is registered with clinicaltrials.gov (NCT05863520).

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22. Ramírez-Cheyne J, López D, Payán C, Arcos-Burgos M, Saldarriaga W. Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline. Am J Med Genet A;2024 (Jan 2)

The FMR1 5′ regulation gene region harbors a CGG trinucleotide repeat expansion (CGG-TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions. Ricaurte is a small village in southwestern Colombia, with an FXS prevalence of 1 in 38 men and 1 in 100 women (~100 times higher than the worldwide reported prevalence), defining Ricaurte as the largest FXS cluster in the world. In the present study, using next-generation sequencing of whole exome capture, we genotype 55 individuals from Ricaurte (49 with either full mutation or with premutation), four individuals from neighboring villages (with either the full mutation or with the premutation), and one unaffected woman, native of Ricaurte, who did not belong to any of the affected families. With advanced clustering and haplotype reconstruction, we modeled a common haplotype of 33 SNPs spanning 83,567,899 bp and harboring the FMR1 gene. This reconstructed haplotype was found in all the men from Ricaurte who carried the expansion, demonstrating that the genetic conglomerate of FXS in this population is due to a founder effect. The definition of this founder effect and its population outlining will allow a better prediction, follow-up, precise and personalized characterization of epidemiological parameters, better knowledge of the disease’s natural history, and confident improvement of the clinical attention, life quality, and health interventions for this community.

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23. Robertson-Dick EE, Timm EC, Pal G, Ouyang B, Liu Y, Berry-Kravis E, Hall DA, O’Keefe JA. Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson’s disease, and essential tremor. Front Neurol;2023;14:1308698.

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease that affects carriers of a 55-200 CGG repeat expansion in the fragile X messenger ribonucleoprotein 1 (FMR1) gene, may be given an incorrect initial diagnosis of Parkinson’s disease (PD) or essential tremor (ET) due to overlapping motor symptoms. It is critical to characterize distinct phenotypes in FXTAS compared to PD and ET to improve diagnostic accuracy. Fast as possible (FP) speed and dual-task (DT) paradigms have the potential to distinguish differences in gait performance between the three movement disorders. Therefore, we sought to compare FXTAS, PD, and ET patients using quantitative measures of functional mobility and gait under self-selected (SS) speed, FP, and DT conditions. METHODS: Participants with FXTAS (n = 22), PD (n = 23), ET (n = 20), and controls (n = 20) underwent gait testing with an inertial sensor system (APDM(™)). An instrumented Timed Up and Go test (i-TUG) was used to measure movement transitions, and a 2-min walk test (2MWT) was used to measure gait and turn variables under SS, FP, and DT conditions, and dual-task costs (DTC) were calculated. ANOVA and multinomial logistic regression analyses were performed. RESULTS: PD participants had reduced stride lengths compared to FXTAS and ET participants under SS and DT conditions, longer turn duration than ET participants during the FP task, and less arm symmetry than ET participants in SS gait. They also had greater DTC for stride length and velocity compared to FXTAS participants. On the i-TUG, PD participants had reduced sit-to-stand peak velocity compared to FXTAS and ET participants. Stride length and arm symmetry index during the DT 2MWT was able to distinguish FXTAS and ET from PD, such that participants with shorter stride lengths were more likely to have a diagnosis of PD and those with greater arm asymmetry were more likely to be diagnosed with PD. No gait or i-TUG parameters distinguished FXTAS from ET participants in the regression model. CONCLUSION: This is the first quantitative study demonstrating distinct gait and functional mobility profiles in FXTAS, PD, and ET which may assist in more accurate and timely diagnosis.

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24. Tamaoki Y, Pasapula V, Chandler C, Borland MS, Olajubutu OI, Tharakan LS, Engineer CT. Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats. J Neurodev Disord;2024 (Jan 2);16(1):2.

BACKGROUND: Individuals with autism spectrum disorders (ASD) often exhibit altered sensory processing and deficits in language development. Prenatal exposure to valproic acid (VPA) increases the risk for ASD and impairs both receptive and expressive language. Like individuals with ASD, rodents prenatally exposed to VPA exhibit degraded auditory cortical processing and abnormal neural activity to sounds. Disrupted neuronal morphology has been documented in earlier processing areas of the auditory pathway in VPA-exposed rodents, but there are no studies documenting early auditory pathway physiology. Therefore, the objective of this study is to characterize inferior colliculus (IC) responses to different sounds in rats prenatally exposed to VPA compared to saline-exposed rats. METHODS: In vivo extracellular multiunit recordings from the inferior colliculus were collected in response to tones, speech sounds, and noise burst trains. RESULTS: Our results indicate that the overall response to speech sounds was degraded in VPA-exposed rats compared to saline-exposed controls, but responses to tones and noise burst trains were unaltered. CONCLUSIONS: These results are consistent with observations in individuals with autism that neural responses to complex sounds, like speech, are often altered, and lays the foundation for future studies of potential therapeutics to improve auditory processing in the VPA rat model of ASD.

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25. Tan X, Zhu B, Li Y, Huang Y. An ambulatory dental treatment of a child with Rett syndrome and limited mouth opening under muscle relaxant-free general anesthesia: a case report. BMC Anesthesiol;2024 (Jan 2);24(1):3.

BACKGROUND: Rett Syndrome (RTT) is a rare, severe, and progressive developmental disorder with intellectual disability. Anesthesia in RTT patients presents a range of challenges. We report a child with RTT who received dental treatment under muscle relaxant-free general anesthesia in our ambulatory center. CASE PRESENTATION: A 15-year-old girl with RTT was admitted to our dental clinic with multiple dental caries and residual roots. Dental treatment was scheduled under ambulatory general anesthesia. After anesthesia induction, a nasal tube was initiated under the guidance of a fiberoptic bronchoscope. Multimodal analgesia, body temperature monitoring, and postoperative nausea and vomiting prevention were applied. No muscle relaxants were used throughout the process. The endotracheal tube was successfully removed after the operation and the patient was discharged home the same day. CONCLUSION: An individualized anesthesia strategy enabled a quick and safe recovery for this RTT patient after dental treatment under muscle relaxant-free general anesthesia.

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26. Tawankanjanachot N, Truesdale M, Orachon P, Kidd L. Social skills interventions for Thai adolescents with Autism Spectrum Disorder (ASD): a qualitative study of the perceptions and experiences of Thai adolescents, their caregivers and healthcare professionals. Int J Ment Health Syst;2024 (Jan 2);18(1):1.

BACKGROUND: Social skills interventions (SSIs) are effective for enhancing social skills and decreasing mental health problems in adolescents with autism spectrum disorder (ASD). However, these interventions have been designed and their effectiveness has been established in Western countries. Lack of culturally acceptable SSIs for Asian nations is a possible barrier to implementing effective and tailored interventions that address the unique requirements of ASD individuals across countries and cultures. This study aims to explore the needs and preferences of adolescents with ASD, their caregivers, and healthcare professionals (HPs) in Thailand regarding the components, delivery formats, and cultural adaptation required for an outpatient-based social skills intervention. METHODS: Qualitative data was collected via three focus groups of HPs (n = 20) and 24 paired interviews with adolescents with ASD and their caregivers from a child psychiatric hospital in Thailand. Purposive sampling was employed, and thematic analysis was used to analyse the data. RESULTS: Nine themes emerged from the data generated by HPs, and seven from adolescents with ASD and their caregivers. SSIs for Thai adolescents with ASD and their caregivers should emphasise specific social skills training and assess the abilities of adolescents as required. Incorporating various learning strategies is important. Parental involvement is essential and provides knowledge of an adolescent’s symptoms and coaching skills, which are best used to support their adolescents. Cultural considerations include the need for social knowledge of Thai culture, promoting assertiveness and praising parents’ abilities, implementing a programme in time to not interrupt academic achievement, and renaming a programme from social skills intervention to social communication intervention. Barriers to implementing a programme included HPs’ need for specialised training and education and decreased workload. Also, the caregivers’ and adolescents’ stigma reduced attendance in a programme. Increased extra compensation and relocation days off are provided as policy support for staff who deliver the intervention. CONCLUSION: The results suggest that SSIs for Thai adolescents with ASD should be tailored to meet the needs for specific knowledge, skills, and parental collaboration as coaches for their adolescents. Additionally, it should incorporate Thai culture. It is necessary to consider staff knowledge, workload, and stigma in order to reduce barriers to implementation in practice.

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27. Thompson-Hodgetts S. Focusing on Neurodiversity-Affirming Environments to Support Meaningful Participation: A Commentary on « Participation Patterns of Israeli Children with and without Autism, and the Impact of Environment ». Phys Occup Ther Pediatr;2024 (Jan 2):1-3.

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28. Wang C, Chen W, Jiang Y, Xiao X, Zou Q, Liang J, Zhao Y, Wang Q, Yuan T, Guo R, Liu X, Liu Z. A synbiotic formulation of Lactobacillus reuteri and inulin alleviates ASD-like behaviors in a mouse model: the mediating role of the gut-brain axis. Food Funct;2024 (Jan 2);15(1):387-400.

Autism Spectrum Disorder (ASD), a complex neurodevelopmental disorder marked by social communication deficits and repetitive behaviors, may see symptom amelioration through gut microbiota modulation. This study investigates the effects of a synbiotic – specifically a probiotic amplified by prebiotic supplementation – on ASD-like mouse model’s social deficiencies. This model was established via valproic acid injection into pregnant females. Post-weaning, male progeny received daily synbiotic treatment, a combination of Lactobacillus reuteri (L. reuteri) and inulin, for four weeks. Results indicated that the synbiotic rectified social impairments and attenuated inflammatory cytokine expressions in the brain. Moreover, synbiotic intervention protected gut barrier integrity and altered the gut microbiota composition, enhancing the butyrate-producing Bifidobacterium abundance. The synbiotic elevated metabolites such as butyrate and 3-hydroxybutyric acid (3-HB), alongside upregulated genes associated with 3-HB synthesis in the colon and liver, and brain receptors. Conclusively, the synbiotic combination of L. reuteri and inulin mitigated ASD-related social impairments, partially via their regulatory effect on the gut-brain axis.

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29. Wheeler K, Favela A, Hamrick J, Dillard MK, Marzban F, Banda D. A Pilot Program for Teaching Sexuality and Relationships to Adults with Autism and Developmental Disabilities. J Intellect Disabil;2023 (Dec 29):17446295231225520.

Background: People often have an innate interest in both platonic and romantic relationships. In fact, feelings toward sexuality and sexuality education do not differ between various individuals. Yet, autistic individuals have been shown to score significantly lower on measures of sexual awareness than their typically developing counterparts. Aims: The current project sought to investigate the benefits of a specially tailored socio-sexuality curriculum on the interpersonal relationship knowledge of 12 autistic young adults. Methods and Procedures: The eight-session sexuality education intervention was carefully tailored from an existing, online guide from the Organization for Autism Research. Pre- and post-test data were collected via the Assessment of Functional Living Skills Interpersonal Relationships domain. T-tests were conducted to determine significance. Outcomes and Results: Results from paired-sample t-tests indicated significant gains in interpersonal relationship knowledge from pre- to post-intervention. Conclusions and Implications: When provided with specifically tailored sexuality education, young autistic adults can experience socially valid, significant gains on interpersonal relationship knowledge.

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