1. Austermann Q, Gelbar NW, Reis SM, Madaus JW. The transition to college: lived experiences of academically talented students with autism. Front Psychiatry;2023;14:1125904.

The experiences of autistic college students have become an increasing focus of research over the past 10 years. As a part of a larger research project, 40 successful autistic college students were interviewed about their experiences transitioning from high school to college. Participants reported being active participants in selecting colleges, but not receiving robust transition services during high school. They reported wanting additional opportunities in high school to develop executive function skills and to have more social opportunities. Further, they stressed the importance of developing greater independence while in high school.

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2. Barger B, Salmon A, Moore Q. Medical Home, Developmental Monitoring/Screening, and Early Autism Identification. J Autism Dev Disord;2023 (Jul 21)

Developmental monitoring/screening predict early identified autism spectrum disorders (ASD), but studies have not yet robustly controlled for a key health care service impacting early identification: medical home. National Surveys of Children’s Health (NSCH; 2016-2020) were used to determine the relationship between medical home, developmental monitoring/screening, and identified ASD. NSCH overall medical home variable had a minimal relationship with ASD (under 5 years of age, under 5 identified in last year, under 5 identified over a year prior). Usual source of care was positively, and care coordination negatively, associated with ASD identified in last year, suggesting the overall medical home variable may mask variance from subscales. Research is needed to determine how medical home relates to identification in applied settings.

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3. Dückert S, Gewohn P, König H, Schöttle D, Konnopka A, Rahlff P, Erik F, Vogeley K, Schulz H, David N, Peth J. Barriers and needs in mental healthcare of adults with autism spectrum disorder in Germany: a qualitative study in autistic adults, relatives, and healthcare providers. BMC Psychiatry;2023 (Jul 21);23(1):528.

BACKGROUND: Autism refers to a neurodevelopmental condition with characteristic impairments in social interaction and communication, restrictive and repetitive behaviors, as well as difficulties in sensory information processing and daily living skills. Even though symptoms persist from early childhood throughout the lifespan and often require long-term support, there is a lack of mental health services that sufficiently meet the needs of autistic adults. Previous evidence suggested individual, professional and structural barriers to healthcare for autistic adults. Here, using a peer research approach, we sought to systematically investigate barriers and needs in mental healthcare of autistic adults in Germany at the three relevant levels (individual, professional, structural) and from three relevant perspectives (autistic adults, relatives and healthcare providers), in order to obtain specific recommendations for optimized healthcare. METHODS: Maximum variation sampling was used to account for the complexity of the research field. Semi-structured, open-ended interviews were conducted with autistic adults (n = 15) and focus groups with relatives/partners (n = 12), and healthcare providers of several professions (n = 15). Data analysis was performed using the codebook approach of thematic analysis. RESULTS: Poor mental healthcare of autistic adults in Germany was characterized by six central and overarching themes: (i) lack of knowledge about autism, (ii) a need for increased participation/involvement, (iii) consideration of autism-specific needs in treatment, (iv) lack of services, (v) limited access to services, and (vi) improvement of stakeholder collaboration. Themes were similarly reported across participants, emphasizing dissatisfaction in all stakeholders. CONCLUSIONS: We identified major barriers to mental healthcare for autistic adults in Germany that affect autistic adults, but are also of concern to relatives and healthcare providers. Our results point to specific and generic areas for improvement, independent of stakeholder perspectives, which could guide future development of needs- and evidence-based services, recommendations and guidelines of mental healthcare for people with autism across the lifespan. TRIAL REGISTRATION: This study protocol was preregistered at the Open Science Framework ( https://osf.io/5x8pg ).

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4. Fong S, Carollo A, Ashour R, Dimitriou D, Gianluca E. Identifying major research themes in the literature on developmental disabilities in Middle Eastern countries: A scientometric review from 1962 to 2023. Res Dev Disabil;2023 (Jul 18);140:104551.

Developmental disabilities have been widely studied in higher-income countries. However, most individuals with these conditions live in low- and middle-income countries and they are reportedly under-represented in the scientific literature. To tackle this issue, previous research has provided insight into the thematic developments in the research on developmental disabilities in Africa by means of a scientometric approach to reviews. The current work aims to extend the scientometric approach to investigate the main interests in the literature on developmental disabilities conducted in Middle Eastern countries. A total of 1110 documents were retrieved from Scopus and their patterns of co-citation were analysed with the CiteSpace software. Research in Developmental Disabilities emerged to be the main source in the sample of downloaded documents. Furthermore, a total of six main thematic domains and the four most impactful documents in the literature were identified. Results showed that research on developmental disabilities in the Middle East has been mainly focused on uncovering the genetic basis of this group of conditions. The study of clinical profiles, diagnosis, management, and treatment of individuals with developmental disabilities have been so far under-investigated and represents material for future studies.

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5. Garner JP, Talbot CF, Del Rosso LA, McCowan B, Kanthaswamy S, Haig D, Capitanio JP, Parker KJ. Rhesus macaque social functioning is paternally, but not maternally, inherited by sons: potential implications for autism. Mol Autism;2023 (Jul 21);14(1):25.

BACKGROUND: Quantitative autistic traits are common, heritable, and continuously distributed across the general human population. Patterns of autistic traits within families suggest that more complex mechanisms than simple Mendelian inheritance-in particular, parent of origin effects-may be involved. The ideal strategy for ascertaining parent of origin effects is by half-sibling analysis, where half-siblings share one, but not both, parents and each individual belongs to a unique combination of paternal and maternal half-siblings. While this family structure is rare in humans, many of our primate relatives, including rhesus macaques, have promiscuous breeding systems that consistently produce paternal and maternal half-siblings for a given index animal. Rhesus macaques, like humans, also exhibit pronounced variation in social functioning. METHODS: Here we assessed differential paternal versus maternal inheritance of social functioning in male rhesus macaque offspring (N = 407) using ethological observations and ratings on a reverse-translated quantitative autistic trait measurement scale. Restricted Maximum Likelihood mixed models with unbounded variance estimates were used to estimate the variance components needed to calculate the genetic contribution of parents as the proportion of phenotypic variance (σ(2)(P)) between sons that could uniquely be attributed to their shared genetics (σ(2)(g)), expressed as σ(2)(g)/σ(2)(P) (or the proportion of phenotypic variance attributable to genetic variance), as well as narrow sense heritability (h(2)). RESULTS: Genetic contributions and heritability estimates were strong and highly significant for sons who shared a father but weak and non-significant for sons who shared a mother. Importantly, these findings were detected using the same scores from the same sons in the same analysis, confirmed when paternal and maternal half-siblings were analyzed separately, and observed with two methodologically distinct behavioral measures. Finally, genetic contributions were similar for full-siblings versus half-siblings that shared only a father, further supporting a selective paternal inheritance effect. LIMITATIONS: These data are correlational by nature. A larger sample that includes female subjects, enables deeper pedigree assessments, and supports molecular genetic analyses is warranted. CONCLUSIONS: Rhesus macaque social functioning may be paternally, but not maternally, inherited by sons. With continued investigation, this approach may yield important insights into sex differences in autism’s genetic liability.

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6. Hooshmandi M, Sharma V, Thörn Perez C, Sood R, Krimbacher K, Wong C, Lister KC, Ureña Guzmán A, Bartley TD, Rocha C, Maussion G, Nadler E, Roque PM, Gantois I, Popic J, Lévesque M, Kaufman RJ, Avoli M, Sanz E, Nader K, Hagerman RJ, Durcan TM, Costa-Mattioli M, Prager-Khoutorsky M, Lacaille JC, Martinez-Cerdeno V, Gibson JR, Huber KM, Sonenberg N, Gkogkas CG, Khoutorsky A. Excitatory neuron-specific suppression of the integrated stress response contributes to autism-related phenotypes in fragile X syndrome. Neuron;2023 (Jul 13)

Dysregulation of protein synthesis is one of the key mechanisms underlying autism spectrum disorder (ASD). However, the role of a major pathway controlling protein synthesis, the integrated stress response (ISR), in ASD remains poorly understood. Here, we demonstrate that the main arm of the ISR, eIF2α phosphorylation (p-eIF2α), is suppressed in excitatory, but not inhibitory, neurons in a mouse model of fragile X syndrome (FXS; Fmr1(-/y)). We further show that the decrease in p-eIF2α is mediated via activation of mTORC1. Genetic reduction of p-eIF2α only in excitatory neurons is sufficient to increase general protein synthesis and cause autism-like behavior. In Fmr1(-/y) mice, restoration of p-eIF2α solely in excitatory neurons reverses elevated protein synthesis and rescues autism-related phenotypes. Thus, we reveal a previously unknown causal relationship between excitatory neuron-specific translational control via the ISR pathway, general protein synthesis, and core phenotypes reminiscent of autism in a mouse model of FXS.

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7. Kim H, Kim JH, Yi JH, Kim JY, Solmi M, Cortese S, Smith L, Koyanagi A, Shin JI, Cheon KA, Fusar-Poli P. Correlations between sleep problems, core symptoms, and behavioral problems in children and adolescents with autism spectrum disorder: a systematic review and meta-analysis. Eur Child Adolesc Psychiatry;2023 (Jul 21)

Children and adolescents with autism spectrum disorder (ASD) experience various sleep problems. Sleep problems co-occur in a bidirectional relationship with ASD core symptoms and behavioral problems. However, studies on how these three factors are intricately linked to each other are limited. This meta-analysis examined the differential relationship between specific sleep problems, core symptoms, and behavioral problems in this population. This study was registered in PROSPERO (CRD42022339695). We systematically searched the PubMed/MEDLINE, Web of Science, and Scopus databases from inception to April 27, 2022. Observational studies that reported correlations between measures of sleep problems, ASD core symptoms, or ASD behavioral problems were included, and participants aged 18 years or below were enrolled. The correlation coefficient (r) was assessed as the primary effect metric. Total 22 cross-sectional studies were included, which comprised 2655 participants (mean age = 6.60 years old; mean percentage of boys = 80.64%). We found correlations between total sleep problems and total core symptoms (r 0.293 [95% confidence interval - 0.095 to 0.604]), total sleep problems and total behavioral problems (r 0.429 [0.299-0.544]), and total core symptoms and total behavioral problems (r - 0.050 [- 0.177 to 0.079]) and identified statistically significant correlations between specific components of sleep problems, ASD core symptoms, and ASD behavioral problems. Each specific sleep problem showed a unique association with core symptoms and behavioral problems. Sleep problems in ASD should be explored in detail, and the closely linked core symptoms and behavioral problems should be common therapeutic targets.

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8. Lasheras I, Real-López M, Santabárbara J. Prevalence of gastrointestinal symptoms in autism spectrum disorder: A meta-analysis. An Pediatr (Engl Ed);2023 (Jul 18)

INTRODUCTION: A high prevalence of gastrointestinal (GI) symptoms has been described in children and adolescents with autism spectrum disorder (ASD). In addition, there is evidence that presence of GI symptoms is associated to greater severity of ASD. However, the frequency of GI symptoms in children and adolescents with ASD varies widely across studies, and their true prevalence is unknown. Therefore, the objective of this study was to estimate the prevalence of GI symptoms in children and adolescents with ASD. MATERIAL AND METHOD: We conducted a meta-analysis following the PRISMA guidelines. We carried out a rapid systematic search for recent clinical and observational studies published from August 2012 in PubMed. The statistical analyses were performed with the software R. RESULTS: Of 91 potentially eligible articles, only 8 met our inclusion criteria. The prevalence of GI symptoms ranged between 0% and 69%, with an estimated general prevalence of 33% (95% CI, 13%-57%), higher than that reported by a previous meta-analysis for the general paediatric population. This difference is even greater in the specific comparison of studies that applied the paediatric version of the ROME III questionnaire (QPGS-ROME III). CONCLUSIONS: The results confirmed the hypothesis that there is a higher prevalence of functional GI symptoms in paediatric patients with ASD compared to their neurotypical peers.

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9. Lima-Castañeda L, Bringas ME, Aguilar-Hernandez L, Garcés-Ramírez L, Morales-Medina JC, Flores G. The antipsychotic olanzapine reduces memory deficits and neuronal abnormalities in a male rat model of autism. J Chem Neuroanat;2023 (Jul 21):102317.

The prevalence of autism spectrum disorder (ASD), a neurodevelopmental condition that impacts social interaction and sensory processing, is rising. Valproic acid (VPA) exposure during pregnancy causes autistic-like traits in offspring. Olanzapine (OLZ), an atypical antipsychotic, is used to treat ASD. We assessed the impact of OLZ on behavior, neuromorphology, and nitric oxide (NO) levels in the hippocampus using prenatal VPA treatment in rats. It is commonly known that ASD patients exhibit sensory abnormalities. As such, we utilized the tail flick test to validate the ASD model. In the novel object recognition test (NORT), VPA exposure reduces the discrimination index (DI) in the first introduction to the novel object. Moreover, OLZ and vehicle-treated rats perform differently in the second exposition to the DI of the novel object, suggesting that OLZ reverses VPA-induced deficits in recognition memory. The latency to find the hidden platform in the Morris Water Maze test of memory and learning improves in VPA-exposed rats after OLZ administration, indicating that OLZ enhances spatial memory in these rats. Administration of prenatal VPA induces neuronal hypotrophy and reduces spine density in pyramidal neurons of the CA1 region of the hippocampus. Treatment with OLZ corrects the neuromorphological changes brought on by VPA. In the CA1 region of the hippocampus, VPA treatment increases the number of neurons, which normalizes with OLZ treatment. OLZ increases the NO levels in the dorsal hippocampus in control rats. In rats exposed to VPA, the second-generation antipsychotic OLZ reduces memory-related and neuroplastic alterations. The current findings support the use of OLZ in this illness and further validate the use of prenatal VPA as a model of ASD.

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10. Lin HT, Tai YM, Gau SS. Autistic Traits and Cyberbullying Involvement Mediated by Psychopathologies and School Functions in a Nationally Representative Child Sample. Cyberpsychol Behav Soc Netw;2023 (Jul 21)

Cyberbullying has become an international concern among youth with autistic traits in the digital age. It draws the attention of professionals in mental health and education due to its potentially severe psychosocial and academic impacts. However, there is limited knowledge about the mediators for these associations. This study investigated whether school dysfunction and comorbid psychopathologies mediated the link between autistic traits and cyberbullying. We used a nationally representative sample of 9,483 students (9-14 years of age). The instruments included the Social Responsiveness Scale for autistic traits; the Cyberbullying Experiences Questionnaire for cyberbullying victimization and perpetration; the Swanson, Nolan, and Pelham, version IV for inattention, hyperactivity/impulsivity, and oppositional behaviors; the Child Behavior Checklist for anxiety/depression; and the Social Adjustment Inventory for Children and Adolescents for impaired school functions. Multiple mediation models were used for statistical analyses. The results showed that the 1-year prevalence rates of pure victims, pure perpetrators, and bully-victims of cyberbullying were 7.9 percent, 2.4 percent, and 5.7 percent, respectively. Cyberbullying victimization and perpetration were positively associated with autistic traits, school dysfunction, and comorbid psychopathologies. The associations between autistic traits and cyberbullying victims and bully-victims were significantly mediated by school dysfunction and hyperactivity/impulsivity (only for bully-victims), independent of sex and age. Our results suggest that early identification and intervention of these difficulties may mitigate the risks of cyberbullying. ClinicalTrials.gov ID: NCT02707848.

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11. Molcho-Haimovich A, Tikotzky L, Meiri G, Ilan M, Michaelovski A, Schtaierman H, Golan HM, Sadaka Y, Menashe I, Dinstein I. Sleep disturbances are associated with irritability in ASD children with sensory sensitivities. J Neurodev Disord;2023 (Jul 21);15(1):21.

BACKGROUND: Parent reports suggest that 44-84% of children with ASD exhibit sleep disturbances that are of clinical concern. Previous studies have reported that, in children with ASD, the severity of sleep disturbances is associated with the severity of either sensory problems or aberrant behaviors, but none have performed combined analyses with measures of both sensory and aberrant behaviors symptom domains from the same children. METHODS: We examined parent reports of 237 children with ASD, 1.4-8.7 years old, using the child sleep habits questionnaire (CSHQ), sensory profile (SP), and aberrant behaviors checklist (ABC). RESULTS: The analyses revealed that sleep disturbances were most strongly associated with SP sensory sensitivity and ABC irritability scores. Together these scores explained 35% of the variance in total CSHQ scores. Moreover, sensory sensitivity scores moderated the association between irritability and sleep disturbances, indicating that sleep disturbances were significantly associated with irritability only in children with moderate to severe sensory sensitivities. CONCLUSION: We suggest that the three symptom domains may interact and exacerbate each other such that successful intervention in one symptom domain may have positive impact on the others. Further intervention studies testing this hypothesis are highly warranted.

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12. Phan L, Tariq A, Lam G, Mirza M, Paiva D, Lazic M, Emami Z, Anagnostou E, Gordon KA, Pang EW. Children with autism spectrum disorder who demonstrate normal language scores use a bottom-up semantic processing strategy: Evidence from N400 recordings. Brain Behav;2023 (Jul 21):e3158.

INTRODUCTION: The N400 is an electrophysiological component that reflects lexical access and integration of words with mental representations. METHODS: Thirty-five young children with a range of language capabilities (n = 21 neurotypical controls, 10 males, mean age = 6.3 ± 0.9 years; n = 14 children with autism, 12 males, mean age = 6.4 ± 1.1 years) completed an auditory semantic categorization paradigm to evoke the N400. Electroencephalograph (EEG) data were acquired with a 64-channel electrode cap as children listened via ear inserts to binaurally presented single syllable words and decided whether the words were congruent (in) or incongruent (out) with a pre-specified category. EEG data were filtered, epoched, and averaged referenced, and global field power (GFP) was computed. The amplitude of the N400 peak in the GFP was submitted to a multiple linear regression analysis. RESULTS: N400 amplitude was found to predict language scores only for the children with ASD who have language scores in the normal range (r(2) = 0.72). CONCLUSIONS: This finding that N400 amplitude only predicted language scores in children with ASD and normal language scores suggests that these children may rely more on basic semantic processing (as reflected by the N400) and less on anticipating and predicting upcoming words. This suggests preferential utilization of a bottom-up strategy to access higher order language.

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13. Powers S, Likhite S, Gadalla KK, Miranda CJ, Huffenberger AJ, Dennys C, Foust KD, Morales P, Pierson CR, Rinaldi F, Perry S, Bolon B, Wein N, Cobb S, Kaspar BK, Meyer K. Novel MeCP2 Gene Therapy is Effective in a Multicenter Study using Two Mouse Models of Rett Syndrome and is Safe in Non-human Primates. Mol Ther;2023 (Jul 21)

The AAV9 gene therapy vector presented in this study is safe in mice and non-human primates and highly efficacious without causing overexpression toxicity, a major challenge for clinical translation of Rett Syndrome gene therapy vectors to date. Our team designed a new truncated methyl CpG binding protein 2 (MeCP2) promoter allowing widespread expression of MeCP2 in mice and non-human primates after a single injection into the cerebrospinal fluid without causing overexpression symptoms up to 18 months post injection. Additionally, this new vector is highly efficacious at lower doses compared to previous constructs as demonstrated in extensive efficacy studies performed by two independent laboratories in two different Rett syndrome mouse models carrying either a knockout or one of the most frequent human mutations of MeCP2. Overall, data from this multicenter study highlights the efficacy and safety of this gene therapy construct, making it a promising candidate for first in human studies to treat Rett syndrome.

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14. Qiu C, Carter SA, Lin JC, Shi JM, Chow T, Desai VN, Nguyen VT, Spitzer J, Feldman RK, Xiang AH. Association of Labor Epidural Analgesia, Oxytocin Exposure, and Risk of Autism Spectrum Disorders in Children. JAMA Netw Open;2023 (Jul 3);6(7):e2324630.

IMPORTANCE: Maternal labor epidural analgesia (LEA) and oxytocin use for labor and delivery have been reported to be associated with child autism spectrum disorders (ASD). However, it remains unclear whether these 2 common medications used during labor and delivery have synergistic associations with ASD risk in children. OBJECTIVE: To assess the independent associations of LEA and oxytocin during labor and delivery with ASD, as well as outcome modification associated with the concurrent use of both interventions. DESIGN, SETTING, AND PARTICIPANTS: Data for this cohort study included 205 994 singleton births with vaginal deliveries in a single integrated health care system in Southern California from calendar years 2008 to 2017. Children were followed up to December 31, 2021. Data on use of LEA and oxytocin, covariates, and ASD outcome in children were obtained from electronic medical records. Cox proportional hazards regression was used to estimate the hazard ratios (HRs) adjusting for covariates. EXPOSURES: Labor epidural analgesia and/or oxytocin use during labor and delivery. MAIN OUTCOMES AND MEASURES: A child’s clinical diagnosis of ASD during follow-up and at age of diagnosis. RESULTS: Among the cohort, 153 880 children (74.7%) were exposed to maternal LEA and 117 808 children (57.2%) were exposed to oxytocin during labor and delivery. The population of children was approximately half boys and half girls. The median (IQR) age of the mothers was 30.8 (26.8-34.5) years for those not exposed to LEA, 30.0 (25.9-33.8) years for those exposed to LEA, 30.4 (26.5-34.1) years for those unexposed to oxytocin, and 30.0 (25.9-33.9) years for those exposed to oxytocin during labor and delivery. A total of 5146 children (2.5%) had ASD diagnosed during follow-up. Oxytocin exposure was higher among LEA-exposed (67.7%) than -unexposed (26.1%) children. The ASD risk associated with LEA was independent of oxytocin exposure (HR, 1.28; 95% CI, 1.18-1.38); however, the ASD risk associated with oxytocin was not significant after adjusting for LEA exposure (HR, 1.05; 95% CI, 0.99-1.12). A significant interaction of LEA and oxytocin on child ASD risk was found (P = .02 for interaction). Compared with no exposure, HRs were 1.20 (95% CI, 1.09-1.32) for LEA alone, 1.30 (95% CI, 1.20-1.42) for both LEA and oxytocin, and 0.90 (95% CI, 0.78-1.04) for oxytocin alone. CONCLUSIONS AND RELEVANCE: The findings of this cohort study suggest an association between maternal LEA and ASD risk in children, and the risk appeared to be further increased if oxytocin was also administered. Oxytocin exposure without LEA exposure was not associated with ASD risk in children. These findings must be interpreted with caution. Further studies are needed to replicate or refute the study results and examine biological plausibility.

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15. Roth NM, Delgado-López C, Wiggins LD, Muñoz NN, Mulkey SB, Nieves-Ferrer L, Woodworth KR, Rosario GM, Huertas MM, Moore CA, Tong VT, Gilboa SM, Valencia-Prado M. Notes from the Field: Autism Spectrum Disorder Among Children with Laboratory Evidence of Prenatal Zika Virus Exposure – Puerto Rico, 2023. MMWR Morb Mortal Wkly Rep;2023 (Jul 21);72(29):802-804.

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16. Tusche A, Spunt RP, Paul LK, Tyszka JM, Adolphs R. Neural signatures of social inferences predict the number of real-life social contacts and autism severity. Nat Commun;2023 (Jul 20);14(1):4399.

We regularly infer other people’s thoughts and feelings from observing their actions, but how this ability contributes to successful social behavior and interactions remains unknown. We show that neural activation patterns during social inferences obtained in the laboratory predict the number of social contacts in the real world, as measured by the social network index, in three neurotypical samples (total n = 126) and one sample of autistic adults (n = 23). We also show that brain patterns during social inference generalize across individuals in these groups. Cross-validated associations between brain activations and social inference localize selectively to the right posterior superior temporal sulcus and were specific for social, but not nonsocial, inference. Activation within this same brain region also predicts autism-like trait scores from questionnaires and autism symptom severity. Thus, neural activations produced while thinking about other people’s mental states predict variance in multiple indices of social functioning in the real world.

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17. Woolard A, Benders T, Campbell LE, Whalen OM, Mallise C, Karayanidis F, Barker D, Murphy VE, Tait J, Gibson P, Korostenski L, Lane AE. The relationship between pitch contours in infant-directed speech and early signs of autism in infancy. Infant Behav Dev;2023 (Jul 19);72:101860.

PURPOSE: Mother-infant interactions during the first year of life are crucial to healthy infant development. The infant-directed speech (IDS), and specifically pitch contours, used by mothers during interactions are associated with infant language and social development. However, little research has examined pitch contours towards infants with socio-communication and language differences, such as those displaying early signs of autism spectrum disorder (autism). This study aimed to explore the association of infant autism signs and pitch contours used by mothers with their 12-month-old infants. METHOD: Mother-infant dyads (n = 109) were recruited from the University of Newcastle BabyLab. Parent-infant dyads completed a 15-min interaction, from which a total of 36,128 pitch contours were measured and correlated with infant autism signs. Infant autism signs were assessed via parent-report (First Year Inventory; Reznick et al., 2007). A subset of high-risk infants (admitted to a neonatal intensive care unit, n = 29) also received an observation-based assessment (Autism Detection in Early Childhood; Young & Nah, 2016). RESULTS: Mothers used fewer sinusoidal contours when they rated their infant as displaying more autism signs (r(s) = - .30, p = .004) and more autism-related sensory regulation issues (r(s) = - .31, p = .001). Mothers used fewer flat contours if their infant displayed more researcher-rated autism signs (r(2) = - .39, p = .04). CONCLUSIONS: This study provides the early evidence that maternal pitch contours in IDS are related to early autism signs in infancy. If our findings are replicated in follow up studies where infants are followed to diagnosis, maternal IDS may be an important element of future early intervention protocols that focus on communication for infants with risk for autism.

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18. Zhu J, Meng H, Li Y. Identification of target hub genes and construction of a novel miRNA regulatory network in autism spectrum disorder by integrated analysis. Medicine (Baltimore);2023 (Jul 21);102(29):e34420.

The incidence of autism spectrum disorder (ASD) is increasing year by year in children. The aim of the study was to find possible biomarkers for ASD diagnosis as well as examine MicroRNA (miRNA) signatures and crucial pathways. We conducted a two-stage study to explore potential target genes and functional miRNAs. Peripheral blood samples of children with ASD were enrolled and performed RNA sequencing analysis. The overlapped candidate genes were further screened in combination with differentially expressed genes (DEGs) of GSE77103 datasets. STRING established a protein-protein interaction network comprising DEGs. The hub genes were filtered out using the CytoHubba. Then, we set up a miRNA-mRNA regulatory network. Correlational analyses between hub genes and immune cells associated with ASD were carried out using the CIBERSORT software to assess the diversity of immune cell types in ASD. RNA-sequencing analysis was used to confirm the differential expression of 3 hub genes. Briefly, after blood samples were sequenced interrogating 867 differential genes in our internal screening dataset. After screening GEO databases, 551 DEGs obtained from GSE77103. Fourteen common genes were overlapped through DEGs of GEO datasets and internal screening dataset. Among protein-protein interaction network, 10 hub genes with high degree algorithm were screened out and 3 hub genes of them – ADIPOR1, LGALS3, and GZMB – that were thought to be most associated with the emergence of ASD. Then, we developed a network of miRNA-mRNA regulatory interactions by screening miRNAs (such as hsa-miR-20b-5p, hsa-miR-17-5p, and hsa-miR-216b-5p) that were closely associated to 3 hub genes. Additionally, we discovered 18 different immune cell types associated with ASD using the CIBERSORT algorithm, and we discovered that mononuclear macrophages differed considerably between the 2 groups. Overall, 3 hub genes (ADIPOR1, LGALS3, and GZMB) and 15 candidates miRNAs-target 3 genes regulatory pathways representing potentially novel biomarkers of ASD diseases were revealed. These findings could enhance our knowledge of ASD and offer possible therapeutic targets of ASD patients in the future.

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