1. Baran B, Nguyen QTH, Mylonas D, Santangelo SL, Manoach DS. Increased resting-state thalamocortical functional connectivity in children and young adults with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2022.

There is converging evidence that abnormal thalamocortical interactions contribute to attention deficits and sensory sensitivities in autism spectrum disorder (ASD). However, previous functional MRI studies of thalamocortical connectivity in ASD have produced inconsistent findings in terms of both the direction (hyper vs. hypoconnectivity) and location of group differences. This may reflect, in part, the confounding effects of head motion during scans. In the present study, we investigated resting-state thalamocortical functional connectivity in 8-25 year-olds with ASD and their typically developing (TD) peers. We used pre-scan training, on-line motion correction, and rigorous data quality assurance protocols to minimize motion confounds. ASD participants showed increased thalamic connectivity with temporal cortex relative to TD. Both groups showed similar age-related decreases in thalamic connectivity with occipital cortex, consistent with a process of circuit refinement. Findings of thalamocortical hyperconnectivity in ASD are consistent with other evidence that decreased thalamic inhibition leads to increase and less filtered sensory information reaching the cortex where it disrupts attention and contributes to sensory sensitivity. This literature motivates studies of mechanisms, functional consequences, and treatment of thalamocortical circuit dysfunction in ASD.

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2. Birri NL, Carnahan CR, Schmidt C, Williamson P. A Personal Narrative Intervention for Adults With Autism and Intellectual Disability. American journal on intellectual and developmental disabilities. 2023; 128(1): 21-35.

Due to the unique social cognitive profiles of individuals with autism spectrum disorder (ASD) with and without intellectual disability (ID) sharing coherent and complex personal narratives can be challenging. To address these challenges research has focused on teaching macrostructure components using visual supports and repeated opportunities to practice. Despite success by young children with ASD and ID, the application of this instruction for adults with ASD with and without ID is still largely unknown. An ABAB single case withdrawal design was used to determine the effects of a personal narrative intervention to teach macrostructure within participant-generated personal narratives. Results indicate all participants demonstrated more coherent and complex personal narratives with the intervention. The results and implications for practice are discussed.

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3. Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M. ZDHHC15 as a candidate gene for autism spectrum disorder. American journal of medical genetics Part A. 2022.

The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by array CGH, karyotype, exome sequencing and X-chromosome inactivation patterns. Medical history interviews, cognitive and physical examinations, and sensory profiling were also assessed. The three family members with ASD (with normal cognitive abilities and an abnormal sensory profile) were the only carriers of a 1.7 Mb deletion in the long arm of chromosome X, involving: ZDHHC15, MAGEE2, PBDC1, MAGEE1, MIR384 and MIR325. The normal chromosome X was preferentially inactivated in female carriers, and the whole exome sequencing of an affected family member did not reveal any additional genetic variant that could explain the phenotype. Thus, in the present family, ASD segregates with a deletion on chromosome X that includes ZDHHC15. Considering our results together with gene data (regarding function, expression, conservation and animal/cellular models), ZDHHC15 is a candidate gene for ASD. Emerging evidence also suggests that this gene could be associated with other neurodevelopmental disorders, with incomplete penetrance and variable expressivity.

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4. Farmer C, Thurm A, Condy E, Duku E, Szatmari P, Bennett T, Elsabbagh M, Kerns CM, Smith IM, Vaillancourt T, Zaidman-Zait A, Zwaigenbaum L, Georgiades S. Disentangling global and domain-level adaptive behavior trajectories among children with autism spectrum disorder. Journal of child psychology and psychiatry, and allied disciplines. 2022.

BACKGROUND: Heterogeneity in adaptive behavior abilities among people with autism spectrum disorder (ASD) is expressed not only as uneven levels of impairment across domains, but also in the developmental trajectories of adaptive skills. We studied the question of whether, after accounting for global adaptive behavior development, we find evidence of heterogeneity in the trajectories of specific domains of adaptive behavior. METHODS: A sample of 504 children with ASD was obtained by combining data from two independent natural history studies conducted in North America. We used a factor of curves model to explain growth between 36 and 138 months in Vineland Adaptive Behavior Scales, Second Edition (VABS) age equivalents as a function of domain-specific and global growth processes. RESULTS: The domain-specific trajectories in all three domains (Communication, Daily Living Skills, and Socialization) reflected impairment relative to age expectations as well as slower-than-expected growth with age, and the parameters of these trajectories were moderately-to-strongly correlated across domains. The global adaptive behavior trajectory had an initial (36-41 months of age) developmental level of about 22 age-equivalent months, and eventually slowed after initially increasing by about 6 months each year. The global trajectory accounted for the majority of variance in the domain-level processes; however, additional variance remained (14%-38%) in the domain-level intercepts, slopes, and quadratic processes. CONCLUSIONS: These results extend existing theoretical and empirical support for the hierarchical structure of adaptive behavior to include its development over time in clinical samples of children with ASD. A latent global trajectory may be sufficient to describe the growth of adaptive behavior in children with ASD; however, the remaining domain-specific variability after accounting for global adaptive behavior development allows for the possibility that differential effects of intervention on specific domains may be possible and detectable.

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5. Franchini M, Smith IM, Sacrey L, Duku E, Brian J, Bryson SE, Vaillancourt T, Armstrong V, Szatmari P, Roberts W, Roncadin C, Zwaigenbaum L. Continuity of trajectories of autism symptom severity from infancy to childhood. Journal of child psychology and psychiatry, and allied disciplines. 2022.

BACKGROUND: Behavioral symptom trajectories are informative of the development of young children at increased likelihood for autism spectrum disorder (ASD). METHODS: Developmental trajectories of early signs were examined in a cohort of siblings of children diagnosed with ASD (n = 502) from 6 to 18 months using the Autism Observation Scale for Infants (AOSI), and from 18 months to 5-7 years using the Autism Diagnostic Observation Schedule (ADOS). Diagnostic outcomes for ASD at age 3 confirmed diagnosis for 137 children. We further analyzed the conditional probability of a switch from a trajectory measured with the AOSI to a trajectory measured with the ADOS as well as predictors from age 6 months. RESULTS: We derived three early trajectories of behavioral signs (« Low, » « Intermediate, » and « Increasing ») from 6 to 18 months using the AOSI. We then derived three similar, distinct trajectories for the evolution of symptom severity between 18 and 60-84 months of age (Low, Intermediate, Increasing) using the ADOS. Globally, the Low trajectory included children showing fewer ASD signs or symptoms and the Increasing trajectory included children showing more severe symptoms. We also found that most children in the Low AOSI trajectory stayed in the corresponding ADOS trajectory, whereas children in an Increasing AOSI trajectory tended to transition to an Intermediate or Increasing ADOS trajectory. Developmental measures taken at 6 months (early signs of ASD, Fine Motor, and Visual Reception skills) were predictive of trajectory membership. CONCLUSIONS: Results confirm substantial heterogeneity in the early emergence of ASD signs in children at increased likelihood for ASD. Moreover, we showed that the way those early behavioral signs emerge in infants is predictive of later symptomatology. Results yield clear clinical implications, supporting the need to repeatedly assess infants at increased likelihood for ASD as this can be highly indicative of their later development and behavior.

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6. Friedel EBN, Tebartz van Elst L, Schäfer M, Maier S, Runge K, Küchlin S, Reich M, Lagrèze WA, Kornmeier J, Ebert D, Endres D, Domschke K, Nickel K. Retinal Thinning in Adults with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

Since the retina shares its embryological origin with the central nervous system, optical coherence tomography (OCT), an imaging technique frequently employed in ophthalmology to analyze the macula and intraretinal layer thicknesses and volumes, has recently become increasingly important in psychiatric research. We examined 34 autistic and 31 neurotypical adults (NT) using OCT. Autistic adults had reduced overall macular and outer nuclear layer (ONL) thickness and volume compared to NT. Both macular and ONL thickness showed significant inverse associations with the severity of autistic symptoms measured with the Social Responsiveness Scale 2 (SRS-2). Longitudinal studies across different age groups are required to clarify whether retinal changes may represent a possible trait marker.

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7. Hamp N, DeHaan SL, Cerf CM, Radesky JS. Primary Care Pediatricians’ Perspectives on Autism Care. Pediatrics. 2022.

OBJECTIVES: We aimed to explore pediatric primary care provider (PCP) experiences and needs around identification and management of autism spectrum disorder (ASD) in toddlers for the purpose of planning improved supports and services for ASD in the medical home. METHODS: We recruited 28 PCPs to participate in semistructured interviews via Zoom. Probe questions elicited opinions about current screening and referral procedures, experiences obtaining services for patients, effective communication with parents, physician emotional experience when introducing ASD concerns, practice-based sources of disparities, and larger needs for ASD management in the primary care setting. Interview transcripts were analyzed qualitatively by a multispecialty research team for recurrent themes using grounded theory analysis. RESULTS: Participants were 89% women, ranging in clinical experience from <1 year to >27 years, representing 8 diverse pediatric primary care clinic sites at a Midwest academic medical center. Dominant themes relating to PCPs’ cognitive, emotional, and environmental experience of caring for patients with ASD were identified, which reflected the trajectory of ASD identification (the parent lens; the « A » word), referral (the autism labyrinth; provider disempowerment; parent activation as a source of inequities), and long-term management (the « black box »; provider emotional investment). CONCLUSIONS: Existing literature and results from this study suggest a need for targeted improvements in primary care to: (1) increase PCP capacity and confidence in communicating concerns of ASD with families; (2) refer for timely diagnostic evaluations in trusted and easy-to-navigate care systems; and (3) increase family activation and capacity to follow up on ASD evaluation and treatment services.

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8. Hasell S, Hussain A, Da Silva K. The Oral Health Status and Treatment Needs of Pediatric Patients Living with Autism Spectrum Disorder: A Retrospective Study. Dentistry journal. 2022; 10(12).

BACKGROUND: The objective of this retrospective study was to assess the oral health status and treatment needs of children with ASD and to explore the differences in risk factors and oral health care status and the risk factors for treatment under GA. METHODS: Dental charts of children between 6 and 14 years of age who were examined at a dental facility associated with the College of Dentistry, University of Saskatchewan between 2016 to 2019 were assessed. Children who were identified as having ASD, as well as an age- and gender-matched control group consisting of otherwise healthy children were included in the study. RESULTS: The sample included 346 dental records, with 173 children having a diagnosis of ASD. Children diagnosed with ASD had significantly higher experience with caries (91.3% vs. 65.9%, p = 0.003) and severity (mean DMFT/dmft = 8.18 ± 1.62 vs. 4.93 ± 0.58 p = 0.007). Children with ASD were also older when visiting the dentist for the first time (age of 5.97 ± 1.18 vs. 2.79 ± 1.09, p = 0.02)). Children with ASD were less likely to brush once a day (66.5% vs. 88.4%, p = 0.02), were more likely to have bruxism (35.8% vs. 10.4%, p = 0.003) and were less likely to have class I occlusion (64.7% vs. 80.9%, p = 0.03). Findings from the logistic regression analysis revealed that children with ASD were also 2.13 times more likely to receive a referral for general anesthesia when all other variables were held constant (p = 0.03). CONCLUSIONS: This research demonstrates that children diagnosed with ASD may face more barriers with access to oral health care, leading to poorer outcomes and greater treatment dental needs.

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9. Healy O, Reilly E, Davies J, Lovett V, Reed P. Brief Report: Differential Persistence of Primary Reflexes for Children with Autism Spectrum Disorder: A Systematic Replication. Journal of autism and developmental disorders. 2022.

Primary reflexes are highly stereotypical, automatic movements comprising much of the motor repertoire of newborns. The current study examined rates of presence of five primary reflexes (snout, visual rooting, sucking, tactile rooting, and grasp) and variables predictive of their persistence for children with ASD (n = 35), developmental disability (n = 30), and typically developing children matched to participants with ASD on chronological age (n = 30). There was a higher prevalence of snout and visual rooting reflex among children with ASD. These data suggest that the persistence of primary reflexes holds promise as a biomarker for autism spectrum disorder (ASD).

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10. Kang E, Lerner MD, Gadow KD. The Importance of Parent-Teacher Informant Discrepancy in Characterizing Autistic Youth: A Replication Latent Profile Analysis. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 2022: 1-11.

OBJECTIVE: Research about autism spectrum disorder (ASD) supports variation in symptom presentations across settings, and there is a growing literature that explicates how this variability may improve characterization of the autism phenotype. Capitalizing on a well-established literature on informant discrepancy as an index of contextual variability, research suggests that differing parent and teacher perceptions may impact treatment or education-related outcomes. A prior investigation by Lerner and colleagues suggests that parent-teacher discrepancies in ASD symptom ratings define discrete and clinically meaningful subgroups. However, replication in a larger sample is important to support the validity and utility of the subgroups for use in research and practice. METHOD: The present paper used latent profile analysis (LPA) to (1) replicate the previous study by Lerner and colleagues in a larger sample of 514 clinic-referred autistic youth (aged 6-18, 83.2% male, 90.4% White, IQ 19-140) and (2) determine if parent-teacher informant discrepancies relate to clinical and functional correlates. We hypothesized that parent-teacher discrepancies in ASD symptom severity ratings would validly characterize ASD subgroups and predict clinical and functional correlates. RESULTS: The results of the LPA supported a 4-profile solution made up of two parent-teacher agreement groups (high parent-teacher, 21.2%, and low parent-teacher, 34.2%) and two parent-teacher discrepancy groups (high parent-low teacher, 18.1%, and moderate parent-high teacher, 26.5%), replicating findings from Lerner and colleagues. Latent profile membership differentially predicted IQ, age, and educational outcomes of participants. CONCLUSIONS: Unique, clinically useful information about the taxonomy and impact of ASD is obtained by considering informant discrepancies in symptom severity ratings, which underscores the importance of considering contextual variability assessed through multiple informants.

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11. Kassa AM, Håkanson CA, Lilja HE. The risk of autism spectrum disorder and intellectual disability but not attention deficit/hyperactivity disorder is increased in individuals with esophageal atresia. Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus. 2022.

Knowledge of neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASD) and intellectual disability (ID) in patients with esophageal atresia (EA) is scarce. The aims of this study were to investigate the prevalence and risk of ADHD, ASD and ID in individuals with EA. Data were obtained from four longitudinal population-based registries in Sweden and analyzed using Cox proportional hazards regression. Patients with EA born in Sweden in 1973-2018 were included together with five controls for each individual with the exposure matched on sex, gestational age at birth, birth year and birth county. Individuals with chromosomal aberrations and syndromes were excluded. In total, 735 individuals with EA and 3675 controls were included. Median age at time of the study was 20 years (3-48). ASD was found in 24 (3.9%), ADHD in 34 (5.5%) and ID in 28 (4.6%) individuals with EA. Patients with EA had a 1.66 times higher risk of ASD (95% confidence interval [CI], 1.05-2.64) and a 3.62 times higher risk of ID (95% CI, 2.23-5.89) compared with controls. The risk of ADHD was not significantly increased. ADHD medication had been prescribed to 88.2% of patients with EA and ADHD and to 84.5% of controls with ADHD. Individuals with EA have a higher risk of ASD and ID than individuals without the exposure. These results are important when establishing follow-up programs for children with EA to allow timely detection and consequentially an earlier treatment and support especially before school start.

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12. Klomp AJ, Plumb A, Mehr JB, Madencioglu DA, Wen H, Williams AJ. Neuronal deletion of Ca(V)1.2 is associated with sex-specific behavioral phenotypes in mice. Scientific reports. 2022; 12(1): 22152.

The gene CACNA1C, which encodes the pore forming subunit of the L-type calcium channel Ca(V)1.2, is associated with increased risk for neuropsychiatric disorders including schizophrenia, autism spectrum disorder, major depression, and bipolar disorder. Previous rodent work identified that loss or reduction of Ca(V)1.2 results in cognitive, affective, and motor deficits. Most previous work has either included non-neuronal cell populations (haploinsufficient and Nestin-Cre) or investigated a discrete neuronal cell population (e.g. CaMKII-Cre, Drd1-Cre), but few studies have examined the effects of more broad neuron-specific deletion of Ca(V)1.2. Additionally, most of these studies did not evaluate for sex-specific effects or used only male animals. Here, we sought to clarify whether there are sex-specific behavioral consequences of neuron-specific deletion of Ca(V)1.2 (neuronal Ca(V)1.2 cKO) using Syn1-Cre-mediated conditional deletion. We found that neuronal Ca(V)1.2 cKO mice have normal baseline locomotor function but female cKO mice display impaired motor performance learning. Male neuronal Ca(V)1.2 cKO display impaired startle response with intact pre-pulse inhibition. Male neuronal Ca(V)1.2 cKO mice did not display normal social preference, whereas female neuronal Ca(V)1.2 cKO mice did. Neuronal Ca(V)1.2 cKO mice displayed impaired associative learning in both sexes, as well as normal anxiety-like behavior and hedonic capacity. We conclude that deletion of neuronal Ca(V)1.2 alters motor performance, acoustic startle reflex, and social behaviors in a sex-specific manner, while associative learning deficits generalize across sexes. Our data provide evidence for both sex-specific and sex-independent phenotypes related to neuronal expression of Ca(V)1.2.

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13. Lafage R, Smith JS, Elysee J, Passias P, Bess S, Klineberg E, Kim HJ, Shaffrey C, Burton D, Hostin R, Mundis G, Ames C, Schwab F, Lafage V. Author Correction: Sagittal age-adjusted score (SAAS) for adult spinal deformity (ASD) more effectively predicts surgical outcomes and proximal junctional kyphosis than previous classifications. Spine deformity. 2022.

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14. Lee J, Barger B. Factors Predicting Poor Mental and Physical Health in Parents of Children with Autism Spectrum Disorder: Results from 2016 to 2019 National Survey of Children’s Health. Journal of autism and developmental disorders. 2022.

Although poor health has been reported in parents of children with autism spectrum disorder (ASD), most studies excluded fathers and focused on mental health. We combined 2016-2019 data from the National Surveys of Children’s Health to determine child and parent characteristics that predict poor mental and physical health in fathers (n = 818) and mothers (n = 2111) of children with ASD. For fathers of children with ASD, higher parenting stress was significantly associated with greater odds of poor physical health, whereas racial and ethnic minorities and living at 400% above the federal poverty were significantly associated with lower odds of poor mental health. For mothers of children with ASD, greater child sleep problems were significantly associated with greater odds of poor physical health, and two-parent household living 400% above the poverty line was significantly associated with reported lower odds of poor mental health. Continued efforts to reduce parenting stress and improve child sleep problems, along with expanding existing services and coverages of ASD services, especially for low-income families, may help reduce the burden on these families, preventing adverse future health outcomes in this population.

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15. Li Y, Wang Y, Zhang T. Fecal Microbiota Transplantation in Autism Spectrum Disorder. Neuropsychiatric disease and treatment. 2022; 18: 2905-15.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that begin in infancy. In recent years, the incidence of ASD in the world is increasing year by year. At present, the etiology and pathogenesis of ASD are not clear, and effective treatments are still lacking. In addition to neurobehavioral symptoms, children with ASD often have obvious gastrointestinal symptoms. Gut microbiota is a large microbial community in the human gut, which is closely related to the nervous system and can affect brain development and behavior through the neuroendocrine, neuroimmune and autonomic nervous systems, forming a microbiota-gut-brain axis connection. Recent studies have shown that children with ASD have significant gut microbiota and metabolic disorders, and fecal microbiota transplantation (FMT) is expected to improve ASD-related symptoms by regulating gut microbiota and metabolism. This review paper will therefore focus on FMT in the treatment of ASD, and FMT is effective in improving gastrointestinal and neurobehavioral symptoms in children with ASD.

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16. Li YA, Chen ZJ, Li XD, Gu MH, Xia N, Gong C, Zhou ZW, Yasin G, Xie HY, Wei XP, Liu YL, Han XH, Lu M, Xu J, Huang XL. Epidemiology of autism spectrum disorders: Global burden of disease 2019 and bibliometric analysis of risk factors. Frontiers in pediatrics. 2022; 10: 972809.

BACKGROUND: To explore the geographical pattern and temporal trend of autism spectrum disorders (ASD) epidemiology from 1990 to 2019, and perform a bibliometric analysis of risk factors for ASD. METHODS: In this study, ASD epidemiology was estimated with prevalence, incidence, and disability-adjusted life-years (DALYs) of 204 countries and territories by sex, location, and sociodemographic index (SDI). Age-standardized rate (ASR) and estimated annual percentage change (EAPC) were used to quantify ASD temporal trends. Besides, the study performed a bibliometric analysis of ASD risk factors since 1990. Publications published were downloaded from the Web of Science Core Collection database, and were analyzed using CiteSpace. RESULTS: Globally, there were estimated 28.3 million ASD prevalent cases (ASR, 369.4 per 100,000 populations), 603,790 incident cases (ASR, 9.3 per 100,000 populations) and 4.3 million DALYs (ASR, 56.3 per 100,000 populations) in 2019. Increases of autism spectrum disorders were noted in prevalent cases (39.3%), incidence (0.1%), and DALYs (38.7%) from 1990 to 2019. Age-standardized rates and EAPC showed stable trend worldwide over time. A total of 3,991 articles were retrieved from Web of Science, of which 3,590 were obtained for analysis after removing duplicate literatures. « Rehabilitation », « Genetics & Heredity », « Nanoscience & Nanotechnology », « Biochemistry & Molecular biology », « Psychology », « Neurosciences », and « Environmental Sciences » were the hotspots and frontier disciplines of ASD risk factors. CONCLUSIONS: Disease burden and risk factors of autism spectrum disorders remain global public health challenge since 1990 according to the GBD epidemiological estimates and bibliometric analysis. The findings help policy makers formulate public health policies concerning prevention targeted for risk factors, early diagnosis and life-long healthcare service of ASD. Increasing knowledge concerning the public awareness of risk factors is also warranted to address global ASD problem.

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17. Liu C, Liu J, Gong H, Liu T, Li X, Fan X. Implication of Hippocampal Neurogenesis in Autism Spectrum Disorder: Pathogenesis and Therapeutic Implications. Current neuropharmacology. 2022.

Autism spectrum disorder (ASD) is a cluster of heterogeneous neurodevelopmental condi- tions with atypical social communication and repetitive sensory-motor behaviors. The formation of new neurons from neural precursors in the hippocampus has been unequivocally demonstrated in the dentate gyrus of rodents and non-human primates. Accumulating evidence sheds light on how the deficits in the hippocampal neurogenesis may underlie some of the abnormal behavioral phenotypes in ASD. In this review, we describe the current evidence concerning pre-clinical and clinical studies supporting the significant role of hippocampal neurogenesis in ASD pathogenesis, discuss the possibility of improving hippocampal neurogenesis as a new strategy for treating ASD, and highlight the prospect of emerging pro-neurogenic therapies for ASD.

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18. Liu ZC, Wu D, Qu AN, Wang LL. [Diversity and functional prediction of gut microbiota in children with autism spectrum disorder]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2022; 24(12): 1356-64.

OBJECTIVES: To study the structure and diversity of gut microbiota in children with autism spectrum disorder (ASD), and to predict the metabolic function of gut microbiota. METHODS: Fecal samples were collected from 30 ASD children (ASD group) and 20 typically developing (TD) children (TD group). Genomic DNA was extracted, the 16S rDNA V4 region was amplified by PCR, and Illumina NovaSeq6000 platform was used for high-throughput sequencing. The composition and distribution characteristics of gut microbiota were analyzed for the two groups, and the metabolic function of gut microbiota was predicted. RESULTS: There were no significant differences in alpha diversity indices (Chao1, Shannon, and Simpson) of gut microbiota between the ASD and TD groups (P>0.05). At the phylum and class levels, there was no significant difference in the structure of gut microbiota between the two groups (P>0.05). Compared with the TD group, the ASD group had significantly higher abundance of Megamonas, Barnesiella, Dialister, Megasphaera, Ruminococcus_torques_group, and Fusobacterium at the genus level (P<0.05). Functional prediction analysis showed that compared with the TD group, the ASD group had a significantly lower abundance of the gut microbiota with the metabolic functions such as tryptophan degradation, glutamate degradation, and butyrate production (P<0.05) and a significantly higher abundance of the gut microbiota with the metabolic function of GABA degradation (P<0.05). CONCLUSIONS: There is no significant difference in the alpha diversity of gut microbiota between ASD children and TD children, while there are differences in the composition of species at the genus level and the metabolic functions of gut microbiota.

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19. Lo H, Weng SF, Tsai EM. Neurodevelopmental Disorders in Offspring Conceived via In Vitro Fertilization vs Intracytoplasmic Sperm Injection. JAMA network open. 2022; 5(12): e2248141.

IMPORTANCE: Intracytoplasmic sperm injection (ICSI), the most common type of assisted reproductive technology (ART), might damage the sperm or embryo. The implications of male infertility and ICSI for the neurodevelopmental health of offspring remain unknown. OBJECTIVE: To analyze the risks of neurodevelopmental disorders in offspring of couples with male or female infertility with or without ICSI use. DESIGN, SETTING, AND PARTICIPANTS: This cohort study was conducted in Taiwan and used information collected from the national population registry data set, national birth data set, and national ART data set for all live singleton births from January 1, 2008, to December 31, 2016. The follow-up period started from the date of birth until the diagnosis of a disorder or December 31, 2018, whichever occurred first. Data were analyzed from July 1, 2021, to August 1, 2022. EXPOSURES: Male or female infertility with or without ICSI. MAIN OUTCOMES AND MEASURES: The outcome was the incidence of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and developmental delay in offspring with ART conception. Taiwan’s national population registry data set was used to identify ASD, ADHD, and developmental delay diagnosed in outpatient clinic and hospitalization records. RESULTS: The study included 1 575 971 singleton births (mean [SD] age, 5.87 [2.60] years; 819 389 boys [52.0%]), of whom 1 568 257 (99.5%) had natural conception, 2111 (0.1%) had ART conception with male infertility, and 5603 (0.4%) had ART conception with female infertility. The risks of ASD (adjusted hazard ratio, 2.49; 95% CI, 1.61-3.84; P < .001) and developmental delay (adjusted hazard ratio, 1.92; 95% CI, 1.54-2.39; P < .001) in offspring with ART conception and ICSI use were significantly higher than those in offspring with natural conception. The same results were found in offspring of couples with either male or female infertility and ICSI intervention. CONCLUSIONS AND RELEVANCE: Results of this study suggest that male infertility was not associated with an increased risk of neurodevelopmental disorders in offspring. In both male and female infertility groups, ICSI had unfavorable implications for the neurodevelopmental health of offspring in terms of increased risks of ASD and developmental delay.

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20. Lynch FL, Bulkley JE, Varga A, Crawford P, Croen LA, Daida YG, Fombonne E, Hatch B, Massolo M, Dickerson JF. The impact of autism spectrum disorder on parent employment: Results from the r-Kids study. Autism research : official journal of the International Society for Autism Research. 2022.

Parents of children with autism spectrum disorder (ASD) and other chronic health conditions often face exceptional caregiving demands that can lead to challenges related to maintaining and succeeding in employment. Detailed information on the specific ways in which these health conditions impact parent employment could aid in designing equitable, effective policies to support families. The r-Kids study used electronic health records to identify three groups of children: those with ASD, asthma, or neither condition (control), from several health care systems. We oversampled racial and ethnic minorities and matched the asthma and control groups to the age and sex distribution of the ASD group. Parents completed three online surveys over the course of a year to measure annual employment outcomes. Surveys included the Family Economic Impact Inventory (measuring employment impacts) and measures of quality of life and symptom severity. All materials were provided in English and Spanish. The study enrolled 1461 families (564 ASD, 468 asthma, 429 control). Youth were 3-16.5 years old and predominantly male (79%). The sample was diverse (43% non-Hispanic White; 35% non-Hispanic Asian, Black, Native Hawaiian, or Other; and 21% Hispanic ethnicity). Parents of children with ASD were significantly less likely to be employed than parents of youth with asthma and control combined (OR: 14.2, p < 0.001), and were more likely to have other difficulties with employment and productivity while at work. Public and employer policies to help mitigate these impacts could aid families in managing care for youth with ASD.

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21. Maltman N, DaWalt LS, Hong J, Baker MW, Berry-Kravis EM, Brilliant MH, Mailick M. FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers. American journal on intellectual and developmental disabilities. 2023; 128(1): 1-20.

Variation in the FMR1 gene may affect aspects of cognition, such as executive function and memory. Environmental factors, such as stress, may also negatively impact cognitive functioning. Participants included 1,053 mothers of children with and without developmental disabilities. Participants completed self-report measures of executive function, memory, and stress (i.e., life events, parenting status), and provided DNA to determine CGG repeat length (ranging from 7 to 192 CGGs). Stress exposure significantly predicted greater self-reported difficulties in executive function and the likelihood of memory problems. Cubic CGG effects independently predicted executive function and memory difficulties, suggesting effects of both genetic variation and environmental stress exposure on cognitive functioning.

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22. Ortiz-Cruz CA, Marquez EJ, Linares-García CI, Perera-Murcia GR, Ramiro-Cortés Y. Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons. Scientific reports. 2022; 12(1): 22230.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose hallmarks are social deficits, language impairment, repetitive behaviors, and sensory alterations. It has been reported that patients with ASD show differential activity in cortical regions, for instance, increased neuronal activity in visual processing brain areas and atypical visual perception compared with healthy subjects. The causes of these alterations remain unclear, although many studies demonstrate that ASD has a strong genetic correlation. An example is Phelan-McDermid syndrome, caused by a deletion of the Shank3 gene in one allele of chromosome 22. However, the neuronal consequences relating to the haploinsufficiency of Shank3 in the brain remain unknown. Given that sensory abnormalities are often present along with the core symptoms of ASD, our goal was to study the tuning properties of the primary visual cortex to orientation and direction in awake, head-fixed Shank3(+/-) mice. We recorded neural activity in vivo in response to visual gratings in the primary visual cortex from a mouse model of ASD (Shank3(+/-) mice) using the genetically encoded calcium indicator GCaMP6f, imaged with a two-photon microscope through a cranial window. We found that Shank3(+/-) mice showed a higher proportion of neurons responsive to drifting gratings stimuli than wild-type mice. Shank3(+/-) mice also show increased responses to some specific stimuli. Furthermore, analyzing the distributions of neurons for the tuning width, we found that Shank3(+/-) mice have narrower tuning widths, which was corroborated by analyzing the orientation selectivity. Regarding this, Shank3(+/-) mice have a higher proportion of selective neurons, specifically neurons showing increased selectivity to orientation but not direction. Thus, the haploinsufficiency of Shank3 modified the neuronal response of the primary visual cortex.

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23. Rahman MM, Carter SA, Lin JC, Chow T, Yu X, Martinez MP, Chen Z, Chen JC, Rud D, Lewinger JP, van Donkelaar A, Martin RV, Eckel SP, Schwartz J, Lurmann F, Kleeman MJ, McConnell R, Xiang AH. Associations of Autism Spectrum Disorder with PM(2.5) Components: A Comparative Study Using Two Different Exposure Models. Environmental science & technology. 2022.

This retrospective cohort study examined associations of autism spectrum disorder (ASD) with prenatal exposure to major fine particulate matter (PM(2.5)) components estimated using two independent exposure models. The cohort included 318 750 mother-child pairs with singleton deliveries in Kaiser Permanente Southern California hospitals from 2001 to 2014 and followed until age five. ASD cases during follow-up (N = 4559) were identified by ICD codes. Prenatal exposures to PM(2.5), elemental (EC) and black carbon (BC), organic matter (OM), nitrate (NO(3)(-)), and sulfate (SO(4)(2-)) were constructed using (i) a source-oriented chemical transport model and (ii) a hybrid model. Exposures were assigned to each maternal address during the entire pregnancy, first, second, and third trimester. In single-pollutant models, ASD was associated with pregnancy-average PM(2.5), EC/BC, OM, and SO(4)(2-) exposures from both exposure models, after adjustment for covariates. The direction of effect estimates was consistent for EC/BC and OM and least consistent for NO(3)(-). EC/BC, OM, and SO(4)(2-) were generally robust to adjustment for other components and for PM(2.5). EC/BC and OM effect estimates were generally larger and more consistent in the first and second trimester and SO(4)(2-) in the third trimester. Future PM(2.5) composition health effect studies might consider using multiple exposure models and a weight of evidence approach when interpreting effect estimates.

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24. Riglin L, Tobarra-Sanchez E, Stergiakouli E, Havdahl A, Tilling K, O’Donovan M, Nigg J, Langley K, Thapar A. Early manifestations of genetic liability for ADHD, autism and schizophrenia at ages 18 and 24 months. JCPP advances. 2022; 2(3).

BACKGROUND: ADHD and autism are neurodevelopmental conditions, for which non-specific precursors or early signs include difficulties with language and motor skills, and differences in temperament in the first and second year of life. These early features have also been linked to later diagnosis of schizophrenia which is widely considered to have neurodevelopmental origins. Given that ADHD, autism and schizophrenia are all highly heritable, we tested the hypothesis that in the general population, measures of toddler language development, motor development and temperament are associated with genetic liability to ADHD, autism and/or schizophrenia. METHODS: Data were analysed from the Avon Longitudinal Study of Parents and Children (ALSPAC) which included motor development scores at age 18 months and language development and temperament scores at age 24 months (N=7498). Genetic liability was indexed by polygenic risk scores (PGS) for ADHD, autism and schizophrenia. RESULTS: ADHD PGS were associated with specific temperament scales (higher activity β=0.07, 95% CI=0.04, 0.09 and lower withdrawal β=-0.05, 95% CI=-0.07, -0.02) as well as better gross motor scores (β=0.04, 95% CI=0.01, 0.06). Schizophrenia PGS were associated with one specific temperament scale (negative mood β=0.04, 95% CI=0.02, 0.07). We did not find strong evidence of association of autism PGS with any of the toddler measures; there was also not strong evidence of association with motor or language delays for any of the PGS. CONCLUSIONS: This study suggests that some specific aspects of early temperament and gross motor differences in the general population could represent part of the early manifestation of genetic liability to neurodevelopmental conditions.

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25. Slavny-Cross R, Allison C, Griffiths S, Baron-Cohen S. Are autistic people disadvantaged by the criminal justice system? A case comparison. Autism : the international journal of research and practice. 2022: 13623613221140284.

Most autistic people will never experience being arrested or charged with a crime, however for those who do tend to be less satisfied with the way they were treated. The purpose of this study was to find out if autistic people are being disadvantaged by the criminal justice system if they are arrested. Previous research has shown that autistic people may have difficulties communicating with the police. This study builds on this knowledge by uncovering why autistic people may not feel able to communicate with the police and whether the police made any adjustments to help them. This study also measures the impact of being involved with the criminal justice system on autistic people’s mental health, such as stress, meltdowns and shutdowns. The results show that autistic people were not always given the support they felt they needed. For example, not all autistic people had an appropriate adult with them at the police station who could help to make sure they understood what was happening around them. Autistic people were also more likely to feel less able to cope with the stress and more likely to suffer meltdowns and shutdowns because of their involvement with the criminal justice system. We hope this study will help police officers and lawyers to better support autistic people if they become involved with the criminal justice system.

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26. Smith J, Chetcuti L, Kennedy L, Varcin KJ, Slonims V, Bent CA, Green J, Iacono T, Pillar S, Taylor C, Wan MW, Whitehouse AJO, Hudry K. Caregiver sensitivity predicts infant language use, and infant language complexity predicts caregiver language complexity, in the context of possible emerging autism. Autism research : official journal of the International Society for Autism Research. 2022.

While theory supports bidirectional effects between caregiver sensitivity and language use, and infant language acquisition-both caregiver-to-infant and also infant-to-caregiver effects-empirical research has chiefly explored the former unidirectional path. In the context of infants showing early signs of autism, we investigated prospective bidirectional associations with 6-min free-play interaction samples collected for 103 caregivers and their infants (mean age 12-months; and followed up 6-months later). We anticipated that measures of caregiver sensitivity/language input and infant language would show within-domain temporal stability/continuity, but also that there would be predictive associations from earlier caregiver input to subsequent child language, and vice versa. Caregiver sensitive responsiveness (from the Manchester Assessment of Caregiver-Infant interaction [MACI]) predicted subsequent infant word tokens (i.e., amount of language, coded following the Systematic Analysis of Language Transcripts [SALT]). Further, earlier infant Mean Length of Utterance (MLU; reflecting language complexity, also derived from SALT coding) predicted later caregiver MLU, even when controlling for variability in infant ages and clear within-domain temporal stability/continuity in key measures (i.e., caregiver sensitive responsiveness and infant word tokens; and infant and caregiver MLU). These data add empirical support to theorization on how caregiver input can be both supportive of, and potentially influenced by, infant capacities, when infants have social-communication differences and/or communication/language delays suggestive of possible emerging autism.

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27. Underhill JC, Clark J, Hansen RS, Adams H. Exploring Autistic College Students’ Perceptions and Management of Peer Stigma: An Interpretative Phenomenological Analysis. Journal of autism and developmental disorders. 2022.

Autistic college students are often forced to navigate stigma on campus, but little is known about how autistic college students manage communicated stigma. Semi-structured interviews with ten autistic college students were conducted to explore how they manage peer stigma. Interpretative Phenomenological Analysis (IPA) was used to identify three themes from the data: First, participants seek to avoid peer stigma by concealing attributes associated with autism. Next, participants buffer against peer stigma by engaging in favorable social comparison. Finally, participants perceive the autism label as highly stigmatizing, necessitating limited disclosure on campus. These results can help researchers and practitioners focus efforts to promote neurodiversity to both autistic students and their peers on campus.

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28. Unnisa A, Greig NH, Kamal MA. Modeling the Interplay Between Neuron-Glia Cell Dysfunction and Glial Therapy in Autism Spectrum Disorder. Current neuropharmacology. 2022.

Autism spectrum disorder (ASD) is a complicated, interpersonally defined, static condition of the underdeveloped brain. Although the aetiology of autism remains unclear, disturbance of neuron-glia interactions has lately been proposed as a significant event in the pathophysiology of ASD. In recent years, the contribution of glial cells to autism has been overlooked. In addition to neurons, glial cells play an essential role in mental activities, and a new strategy that emphasises neuron-glia interactions should be applied. Disturbance of neuron-glia connections has lately been proposed as a significant event in the pathophysiology of ASD because aberrant neuronal network formation and dysfunctional neurotransmission are fundamental to the pathology of the condition. In ASD, neuron and glial cell number changes cause brain circuits to malfunction and impact behaviour. A study revealed that reactive glial cells result in the loss of synaptic functioning and induce autism under inflammatory conditions. Recent discoveries also suggest that dysfunction or changes in the ability of microglia to carry out physiological and defensive functions (such as failure in synaptic elimination or aberrant microglial activation) may be crucial for developing brain diseases, especially autism. The cerebellum, white matter, and cortical regions of autistic patients showed significant microglial activation. Reactive glial cells result in the loss of synaptic functioning and induce autism under inflammatory conditions. Replacement of defective glial cells (Cell-replacement treatment), glial progenitor cell-based therapy, and medication therapy (inhibition of microglia activation) are all utilised to treat glial dysfunction. This review discusses the role of glial cells in ASD and the various potential approaches to treating glial cell dysfunction.

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29. Yılmaz Z, Al-Taie A. A cross-sectional study of community pharmacists’ self-reported disease knowledge and competence in the treatment of childhood autism spectrum disorder. International journal of clinical pharmacy. 2022.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease that can cause significant social, communication, and behavioural challenges. Given the rising prevalence of autism and multiple medication use, healthcare professionals, including community pharmacists, are required to have sufficient ASD knowledge to affect positively the disease prognosis and related comorbidities. AIM: To assess community pharmacists’ knowledge of disease and pharmacotherapy of ASD, along with the provision of patient education and counselling provided by, community pharmacists in Turkey. METHOD: This was a descriptive, cross-sectional study conducted among community pharmacists in Turkey using a structured, validated questionnaire to assess ASD knowledge, awareness, and the provision of patient education and counselling by community pharmacists. RESULTS: 486 community pharmacists were included, with a mean age of 39.69 ± 13.10 years, and most (n = 151, 31.1%) in the age range between 20 and 29 years. 96.3% of community pharmacists never had training about ASD. 32.9% of the participants were aware of the medicines for ASD treatment, and 25.7% were aware of the drugs’ side effects. The mean overall knowledge about childhood autism among health workers questionnaire (KCAHW) score was 11.83 ± 3.91, and there was a statistically significant KCAHW score difference between other pharmacists and those with ASD training (p = 0.006). CONCLUSION: There is a lack of disease and pharmacotherapy knowledge about childhood ASD among Turkish community pharmacists, particularly about communication impairment, type, onset, and comorbidities, as well as poor knowledge about drug pharmacotherapy and patient counselling services. This potentially creates a barrier to the adequate provision of healthcare to autistic patients.

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30. Zhang S, Lin T, Zhang Y, Liu X, Huang H. Effects of parental overweight and obesity on offspring’s mental health: A meta-analysis of observational studies. PloS one. 2022; 17(12): e0276469.

BACKGROUND: Children of parents who were overweight/obese prior to pregnancy face a variety of neurodevelopmental challenges. The goal of this meta-analysis is to compile evidence about the impact of parental overweight/obesity on their children’s mental health. METHODS: The databases Cochrane Library, EMBASE, Pubmed, PsycINFO, and Web of Science were searched until May 2022. The pooled effect size was calculated using the fixed and random effect models. We also performed I2 index, subgroup analyses, sensitivity analyses, quality assessment, and publication bias analysis. The protocol was registered on the PROSPERO database (CRD42022334408). RESULTS: For maternal exposure (35 studies), both maternal overweight [OR 1.14 (95% CI 1.10,1.18)] and maternal obesity [OR 1.39 (95% CI (1.33, 1.45)] were significantly associated with offspring’s mental disorders. Maternal pre-pregnancy overweight/obesity increased the risk of attention-deficit/hyperactivity disorder (ADHD) [OR 1.55 (95% CI 1.42,1.70)], autism spectrum disorder (ASD) [OR 1.37 (95% CI 1.22,1.55)], cognitive/intellectual delay [OR 1.40 (95% CI 1.21,1.63)], behavioral problems [OR 1.50 (95% CI 1.35,1.66)] and other mental diseases [OR 1.30 (95% CI 1.23,1.37)]. For paternal exposure (6 studies), paternal obesity [OR 1.17 (95% CI 1.06, 1.30)] but not overweight [OR 1.03 (95% CI 0.95,1.11)] was significantly associated with offspring’s mental disorders. CONCLUSIONS: Parental overweight/obesity might have negative consequences on offspring’s mental health and pre-pregnancy weight control is advised.

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