1. ERRATUM: Use of the Prompts for Reestructuring Oral Muscular Phonetic Targets (PROMPT) in Autism Spectrum Disorder: a case study. Codas. 2024; 36(3): e20230279.

[This corrects the article doi: 10.1590/2317-1782/20232022299pt] [This corrects the article doi: https://doi.org/10.1590/2317-1782/20232022299en].

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2. Balakrishnan S, Rachamadugu M, Das Bhowmik A, Bharadwaj KT. A new case of SUPT16H-associated syndromic neurodevelopmental delay. Clin Dysmorphol. 2024; 33(3): 110-3.

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3. Ben-Sasson A, Guedalia J, Ilan K, Shaham M, Shefer G, Cohen R, Tamir Y, Gabis LV. Predicting autism traits from baby wellness records: A machine learning approach. Autism. 2024: 13623613241253311.

Timely identification of autism spectrum conditions is a necessity to enable children to receive the most benefit from early interventions. Emerging technological advancements provide avenues for detecting subtle, early indicators of autism from routinely collected health information. This study tested a model that provides a likelihood score for autism diagnosis from baby wellness visit records collected during the first 2 years of life. It included records of 591,989 non-autistic children and 12,846 children with autism. The model identified two-thirds of the autism spectrum condition group (boys 63% and girls 66%). Sex-specific models had several predictive features in common. These included language development, fine motor skills, and social milestones from visits at 12-24 months, mother’s age, and lower initial growth but higher last growth measurements. Parental concerns about development or hearing impairment were other predictors. The models differed in other growth measurements and birth parameters. These models can support the detection of early signs of autism in girls and boys by using information routinely recorded during the first 2 years of life.

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4. Benavidez HR, Johansson M, Jones E, Rea H, Kurtz-Nelson EC, Miles C, Whiting A, Eayrs C, Earl R, Bernier RA, Eichler EE, Neuhaus E. Predicting Intervention Use in Youth with Rare Variants in Autism-Associated Genes. J Autism Dev Disord. 2024.

Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate the impact of family factors on service utilization to determine whether caregiver (autistic features, education, income) and child (autistic features, sex, age, IQ, co-occurring conditions) factors predicted service type (e.g., speech, occupational, behavioral) and intensity (hours/year) among children with autism-associated variants (N = 125), some of whom also had a confirmed ASD diagnosis. Analyses revealed variability in the types of services used across a range of child demographic, behavioral, and mental health characteristics. Speech therapy was the most received service (87.2%). Importantly, behavior therapy was the least received service and post-hoc analyses revealed that use of this therapy was uniquely predicted by ASD diagnosis. However, once children received a particular service, there was largely comparable intensity of services, independent of caregiver and child factors. Findings suggest that demographic and clinical factors impact families’ ability to obtain services, with less impact on the intensity of services received. The low receipt of therapies that specifically address core support needs in autism (i.e., behavior therapy) indicates more research is needed on the availability of these services for youth with autism-associated variants, particularly for those who do not meet criteria for an ASD diagnosis but do demonstrate elevated and impactful child autistic features as compared to the general population.

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5. Bruni O, Biggio G, Malorgio E, Nobili L. Insomnia in children affected by autism spectrum disorder: The role of melatonin in treatment. Sleep Med. 2024; 119: 511-7.

The present article explores the connection between insomnia and Autism Spectrum Disorder (ASD), focusing on the efficacy and safety of melatonin treatments as supported by existing research and current guidelines. In this narrative review a group of Italian experts provide an analysis of the various aspects of managing insomnia in children with ASD, highlighting key points that could enhance the quality of life for both patients and their caregivers. This includes the significance of comprehensively understanding the root causes of a child’s sleep difficulties for more effective, long-term management. Insomnia, a condition frequently documented in neurodevelopmental disorders such as ASD, greatly affects the lives of patients and caregivers. Recent data show that melatonin-based formulations are effective and safe for treating ASD-related insomnia both short and long term. In particular, prolonged-release melatonin is poised to be the optimal choice for this patient population. This formulation is approved for the treatment of insomnia in children and adolescents aged 2-18 years suffering from ASD and/or Smith-Magenis syndrome, where sleep hygiene measures and behavioral treatments have not been sufficient. In support, emerging research in pediatric settings indicates long-term efficacy and safety, although further research efforts are still needed. Current guidelines recommend managing insomnia and sleep disturbances in ASD using a combination of behavioral and pharmacological methods, primarily melatonin. Recent concerns about accidental melatonin ingestion highlight the need for high purity standards, such as pharmaceutical-grade prolonged-release formulations. The article also summarizes emerging molecular mechanisms from preclinical research, suggesting future therapeutic approaches.

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6. Buie T, Margolis K. Considerations for treating autistic individuals in gastroenterology clinics. Lancet Gastroenterol Hepatol. 2024.

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7. De la Cerna-Luna R, Fernandez-Guzman D, Baquerizo-Sedano M, Cabala-Olazabal S, Taype-Rondan A. Characteristics of children with autism spectrum disorder in pediatric rehabilitation at a referral hospital in Peru. Rev Peru Med Exp Salud Publica. 2024; 41(1): 19-27.

OBJECTIVE. Motivation for the study. Despite the prevalence of ASD, research in the field of Physical Medicine and Rehabilitation is scarce in Peru. Main findings. Of 120 children with a previous diagnosis of ASD, only 9.8% received inclusive education. The median age at diagnosis was 3.83 years. We also found that 78.4% had no disability certificate and 77.5% had incomplete psychological evaluation. The median time since the last physical, occupational, and speech therapy sessions was 3 months, 8 months, and 3.5 months, respectively. Implications. These findings highlight the need to enhance early diagnosis, inclusive education, and evaluation and subsequent certification of disability, as well as to establish more timely interventions. Autism spectrum disorder (ASD) is characterized by developmental disorders, difficulties in social interaction and communication, and restrictive and repetitive patterns of behavior. Despite its high prevalence, few studies have been conducted in rehabilitation settings. This study aimed to describe the characteristics of children with ASD from the Pediatric Rehabilitation Service of the Rebagliati Hospital (SRP-HNERM). MATERIALS AND METHODS. Cross-sectional descriptive study. We reviewed the medical records of children under 14 years of age previously diagnosed with ASD from the SRP-HNERM during 2022. RESULTS. A total of 120 children with ASD were evaluated. The median age was 5 years. Most received regular education, but it was inclusive only for 9.8%. The mean age at diagnosis was 3.83 years. We found that 78.4% had no disability certificate and 77.5% of the participants had incomplete psychological evaluation. The median time since the last physical, occupational and speech therapy sessions was 3, 8 and 3.5 months respectively. CONCLUSION. The mean age at diagnosis of ASD was older than three years, and more than 75% of the patients had neither a disability certificate nor a complete psychological evaluation. The median time since the last rehabilitation therapy sessions was three months or more. Our findings highlight the need to improve early diagnosis, inclusive education and evaluation and subsequent certification of disability, as well as to establish timely interventions.

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8. Franco M, Costa AP. Should Parents Only Use One Language with Their Autistic Children? The Relations Between Multilingualism, Children’s Social Skills, and Parent-Child Communication. J Autism Dev Disord. 2024.

PURPOSE: Parents of autistic children are often advised to use only one language to simplify their child’s language acquisition. Often this recommendation orients towards the geographically predominant language, which may cause difficulties especially for minority-language families. On the other hand, scientific evidence suggests that multilingualism does not hinder language acquisition and that communicating in exclusively foreign languages may even impede social interaction. Therefore, we investigated how parent language use is linked to the social skills of 68 autistic children and to their parents’ ability to feel comfortable, authentic, and free to express themselves. METHODS: Data was collected online, using parent-report questionnaires from parents of 25 different nationalities in the European context, assessing children’s language, autistic traits (AQ-C), social skills (SRS-2), and parent-child communication. RESULTS: Language use was not found to significantly relate to social skills in children. However, parents using their mother tongue, either only their mother tongue or in combination with other languages, reported feeling significantly more comfortable and more authentic than parents using exclusively foreign languages, either one or many. There were no significant differences between monolingual and multilingual families regarding parents’ feelings in regard to their language use. CONCLUSIONS: Our findings may encourage specialists to consider multilingualism more often and consult with parents whether monolingualism is worth risking the negative outcomes we have found. Especially, since advising parents to raise their child multilingually may facilitate access to therapeutic treatment, childcare, and social interaction in multilingual societies and families and subsequently improve support and orientation for stakeholders.

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9. Gacek M, Smoleń T, Krzywoszański Ł, Bartecka-Śmietana A, Kulasek-Filip B, Piotrowska M, Sepielak D, Supernak K. Effects of School-Based Neurofeedback Training on Attention in Students with Autism and Intellectual Disabilities. J Autism Dev Disord. 2024.

In this study we aimed to assess the influence of school-based neurofeedback training on the attention of students with autism and intellectual disabilities. We assessed 24 students of a special education center who attended neurofeedback training sessions during the schoolyear; we also assessed 25 controls from the same center. We used two computer tasks to assess sustained attention in simple and cognitively demanding test situations, and we used a pen-and-paper task to assess selective attention. Each student who took part in the study was tested at the beginning and at the end of the schoolyear. Students from the experimental group significantly improved their performance in the task related to sustained attention to simple stimuli. No performance improvement related to neurofeedback treatment was observed in either sustained attention in cognitively demanding situations or selective attention. School-based neurofeedback training may improve sustained attention to simple stimuli in students with developmental disabilities.

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10. Grant A, Turner S, Shaw SCK, Williams K, Morgan H, Ellis R, Brown A. « I am afraid of being treated badly if I show it »: A cross-sectional study of healthcare accessibility and Autism Health Passports among UK Autistic adults. PLoS One. 2024; 19(5): e0303873.

BACKGROUND: Autistic people are more likely to experience stigma, communication barriers and anxiety during healthcare. Autism Health Passports (AHPs) are a communication tool that aim to provide information about healthcare needs in a standardised way. They are recommended in research and policy to improve healthcare quality. AIM: To explore views and experiences of AHPs among Autistic people from the UK who have been pregnant. METHODS: We developed an online survey using a combination of open and closed questions focused on healthcare impairments and views and experiences of AHPs. Data were anlaysed using descriptive statistics, Kruskal-Wallis tests, and content analysis. FINDINGS: Of 193 Autistic respondents (54% diagnosed, 22% undergoing diagnosis and 24% self-identifying), over 80% reported anxiety and masking during healthcare always or most of the time. Some significant differences were identified in healthcare (in)accessibility by diagnostic status. Only 4% of participants knew a lot about AHPs, with 1.5% of participants using one at least half of the time. Almost three quarters of respondents had not previously seen an AHP. Open text responses indicated that the biggest barrier to using an AHP was a belief that health professionals would discriminate against Autistic patients. Additional barriers included staff lack of familiarity with AHPs and respondents expecting a negative response to producing an AHP. CONCLUSIONS: Our findings suggest that AHPs are not reducing health inequalities for Autistic adults who have been pregnant. Alternative solutions are needed to reduce health inequalities for Autistic people.

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11. Gray R, Muldoon DM. Teaching receptive vocabulary to two autistic children: A replicated, clinic-based, single case experimental design. Autism Dev Lang Impair. 2024; 9: 23969415241258699.

BACKGROUND AND AIMS: This study was conducted in a clinical setting with the aim of replicating previously used procedures for teaching receptive vocabulary. Researchers increased the number of vocabulary words and maintained use of match-to-sample (MtS), prompting, and reinforcement procedures. Researchers were also interested in the efficacy of the intervention from caregivers’ perspectives. METHODS: Using a concurrent multiple baseline design, two autistic preschoolers with receptive language impairment were taught to identify 30 common objects. MtS, prompting, and reinforcement procedures were individualized to support each child. Maintenance checks and generalization probes were completed after a predetermined number of intervention sessions (i.e. three or four clinic sessions). A social validity questionnaire was completed by parents following the final maintenance check. RESULTS: Receptive object identification improved significantly for both participants. Despite exposure to vocabulary targets for only three or four sessions, they generalized the vocabulary targets to non-identical pictures and maintained words at maintenance checks. Participants were most successful when researchers individualized prompting and reinforcement. CONCLUSION: MtS, prompting, and reinforcement were effective procedures for improving object identification, even with a limited number of intervention sessions. To support varying learner profiles, modifying prompting and reinforcement procedures was necessary. Caregivers of both participants reported positive improvements in areas such as communication, attention, and behaviors. IMPLICATIONS: This replicated study provides support for MtS, prompting, and reinforcement as means of teaching receptive vocabulary to autistic preschoolers in a clinical setting. The materials used were simple and cost-effective. Overall, this study outlines and supports a flexible and effective evidence-based practice to teach receptive language to autistic children.

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12. Hou W, Zhao W, Li J. Intact gesture cueing of attention but attenuated sensitivity to peripheral social targets in autistic children: An eye-tracking and pupillometric study. Biol Psychol. 2024; 191: 108822.

BACKGROUND: Altered automatic attention cueing has been reported in autistic children. Yet less is known about how autistic children would respond when the social cue that directs attention occurs in an implied social interaction. METHODS: By using eye-tracking, the current study examined orienting responses to a socially-relevant target or a nonsocial target cued by a goal-directed social gesture in autistic children. Saccadic reaction time and pupillary responses were employed to measure gaze behavior and physiological arousal of autistic children. RESULTS: Both groups of children showed reflexive orienting to the target regardless of its sociality, whereas typically developing (TD) children exhibited faster gaze shift than autistic children when the target was a social stimulus. An increased pupil dilation was observed in autistic children in response to stimuli relative to TD children. Further, autistic children showed larger baseline pupil response. CONCLUSIONS: Autistic children show attenuated sensitivity to social targets and atypical pupil responses, which may be due to the dysfunction of locus coeruleus (LC) – norepinephrine (NE) system.

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13. Jiang X, Chen X, Su J, Liu N. Prevalence of autism spectrum disorder in mainland china over the past 6 years: a systematic review and meta-analysis. BMC Psychiatry. 2024; 24(1): 404.

BACKGROUND: Coupled with its rising prevalence, Autism spectrum disorder (ASD) has become a globally recognized public health concern. Nevertheless, large-scale, multicenter studies that analyze the epidemiology of ASD in China are relatively scarce. METHODS: Literature searches were conducted in PubMed/Medline, Embase, the Cochrane Library, Wanfang Data Knowledge Service Platform, China Biology Medicine database (CBM), China Science and Technology Journal Database (CSTJ), and China National Knowledge Infrastructure (CNKI) to retrieve studies published before April 8, 2023, related to ASD prevalence among children aged 0 to 14 years in mainland China. Meta-analysis was conducted using RevMan 5.2 and Stata 14.0. RESULTS: Twenty-one articles were included. The ASD prevalence among children in mainland China has been 0.7% (95% confidence interval(CI): 0.006-0.008) since 2017. The prevalence of ASD among boys was 1.0% (95% CI: 0.008-0.011), which was significantly higher than that among girls at 0.2% (95% CI: 0.002-0.003), with a statistically significant difference (OR = 3.198, 95% CI: 2.489-4.109, P = 0.000). Among the included studies, 18 reported an ASD prevalence of 0.8% (95% CI: 0.007-0.010), while 3 studies reported an autistic disorder (AD) prevalence of 0.7% (95% CI: 0.006-0.008). The prevalence of autism among urban children was 23.9% (95% CI: 0.149-0.328), and in rural areas, it was 0.7% (95% CI: 0.002-0.013), with no statistically significant difference (OR = 1.342, 95% CI: 0.258-6.975, P = 0.727). Regression analysis showed that factors such as region (P = 0.000), age (P = 0.000), study period (P = 0.000), sample size (P = 0.000), sampling method (P = 0.002), population source (P = 0.000), disease type (P = 0.000), quality score of the study (P = 0.000), and diagnostic criteria (P = 0.000) might have contributed to the heterogeneity in ASD prevalence. CONCLUSION: The prevalence of ASD in China from 2017 to 2023 was 7/1000, showing an upward trend compared to that before 2017 (26.50/10,000). The male-to-female prevalence ratio was 5:1.The overall prevalence remained significantly lower than that reported in foreign countries.

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14. Lund AM, Berland S, Tangeraas T, Christensen M, Confer N, Squires L, Brannsether B. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay. Pediatrics. 2024; 153(6).

Molybdenum cofactor deficiency classically presents in neonates with intractable seizures; however, milder cases generally present before age 2 years with developmental delays and may go undiagnosed. Early diagnosis, and safe, US Food and Drug Administration-approved substrate replacement are critical to preserve neurologic function. This article discusses 2 children who presented with late-onset molybdenum cofactor deficiency type A.

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15. Matos MB, Liberalesso PBN, Bara TDS, Gomes P, Zeigelboim BS, Marques JM, Cordeiro ML. Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil. J Pediatr (Rio J). 2024.

OBJECTIVE: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil. METHODS: This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests. RESULTS: Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001. CONCLUSION: Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors.

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16. Mkhitaryan M, Avetisyan T, Mkhoyan A, Avetisyan L, Yenkoyan K. A case-control study on pre-, peri-, and neonatal risk factors associated with autism spectrum disorder among Armenian children. Sci Rep. 2024; 14(1): 12308.

We aimed to investigate the role of pre-, peri- and neonatal risk factors in the development of autism spectrum disorder (ASD) among Armenian children with the goal of detecting and addressing modifiable risk factors to reduce ASD incidence. For this purpose a retrospective case-control study using a random proportional sample of Armenian children with ASD to assess associations between various factors and ASD was conducted. The study was approved by the local ethical committee, and parental written consent was obtained. A total of 168 children with ASD and 329 controls were included in the analysis. Multivariable logistic regression analysis revealed that male gender, maternal weight gain, use of MgB6, self-reported stress during the pregnancy, pregnancy with complications, as well as use of labor-inducing drugs were associated with a significant increase in the odds of ASD, whereas Duphaston use during pregnancy, the longer interpregnancy interval and birth height were associated with decreased odds of ASD. These findings are pertinent as many identified factors may be preventable or modifiable, underscoring the importance of timely and appropriate public health strategies aimed at disease prevention in pregnant women to reduce ASD incidence.

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17. Naddaf M. Autistic people three times more likely to develop Parkinson’s-like symptoms. Nature. 2024.

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18. Pesch MH, Leung J, Lanzieri TM, Tinker SC, Rose CE, Danielson ML, Yeargin-Allsopp M, Grosse SD. Autism Spectrum Disorder Diagnoses and Congenital Cytomegalovirus. Pediatrics. 2024; 153(6).

OBJECTIVE: To examine the association between congenital cytomegalovirus (cCMV) and autism spectrum disorder (ASD) administrative diagnoses in US children. METHODS: Cohort study using 2014 to 2020 Medicaid claims data. We used diagnosis codes to identify cCMV (exposure), ASD (outcome), and covariates among children enrolled from birth through ≥4 to <7 years. Covariates include central nervous system (CNS) anomaly or injury diagnosis codes, including brain anomaly, microcephaly within 45 days of birth, cerebral palsy, epilepsy, or chorioretinitis. We used Cox proportional hazards regression models to estimate hazard ratios and 95% confidence intervals, overall and stratified by sex, birth weight and gestational age outcome (low birth weight or preterm birth), and presence of CNS anomaly or injury. RESULTS: Among 2 989 659 children, we identified 1044 (3.5 per 10 000) children with cCMV and 74 872 (25.0 per 1000) children with ASD. Of those with cCMV, 49% also had CNS anomaly or injury diagnosis codes. Children with cCMV were more likely to have ASD diagnoses (hazard ratio: 2.5; 95% confidence interval: 2.0-3.2, adjusting for birth year, sex, and region). This association differed by sex and absence of CNS anomaly or injury but not birth outcome. CONCLUSIONS: Children with (versus without) cCMV diagnoses in Medicaid claims data, most of whom likely had symptomatic cCMV, were more likely to have ASD diagnoses. Future research investigating ASD risk among cohorts identified through universal cCMV screening may help elucidate these observed associations.

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19. Sadikova E, Soland J, Menezes M, Mazurek M. Impact of adverse childhood experiences and family resilience on sleep duration in autistic children. Autism. 2024: 13623613241235880.

Autistic children are more likely to have sleep difficulties and to experience adverse childhood experiences. Adverse childhood experiences can include parental divorce, bullying, or witnessing violence. We also know that children in families who are resilient (e.g. families who are connected, work together, and help each other) are less impacted by adverse childhood experiences. Our study examined whether there was a relationship between adverse childhood experiences and sleep duration in autistic children. We also wanted to find out whether family resilience protects from the negative impact of adverse childhood experiences on sleep duration. We used data from 3247 parent surveys about their children that we got from the National Survey of Children’s Health. We found that children with adverse childhood experiences are more likely to get less sleep. We also found that children with resilient families were more likely to get more sleep. Our results show that family resilience helps weaken the relationship between adverse childhood experiences and sleep, so it is important to help families build resilience.

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20. Schnurr PP, Sall JA, Riggs D. VA/Department of Defense Clinical Practice Guideline for PTSD and ASD: A Tool to Optimize Patient Care for Trauma Survivors. JAMA Psychiatry. 2024.

This Viewpoint discusses the Department of Veterans Affairs and Department of Defense clinical practice guideline for posttraumatic stress disorder and acute stress disorder were developed. eng.

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21. Seneff S, Kyriakopoulos AM, Nigh G. Is autism a PIN1 deficiency syndrome? A proposed etiological role for glyphosate. J Neurochem. 2024.

Autism is a neurodevelopmental disorder, the prevalence of which has increased dramatically in the United States over the past two decades. It is characterized by stereotyped behaviors and impairments in social interaction and communication. In this paper, we present evidence that autism can be viewed as a PIN1 deficiency syndrome. Peptidyl-prolyl cis/trans isomerase, NIMA-Interacting 1 (PIN1) is a peptidyl-prolyl cis/trans isomerase, and it has widespread influences in biological organisms. Broadly speaking, PIN1 deficiency is linked to many neurodegenerative diseases, whereas PIN1 over-expression is linked to cancer. Death-associated protein kinase 1 (DAPK1) strongly inhibits PIN1, and the hormone melatonin inhibits DAPK1. Melatonin deficiency is strongly linked to autism. It has recently been shown that glyphosate exposure to rats inhibits melatonin synthesis as a result of increased glutamate release from glial cells and increased expression of metabotropic glutamate receptors. Glyphosate’s inhibition of melatonin leads to a reduction in PIN1 availability in neurons. In this paper, we show that PIN1 deficiency can explain many of the unique morphological features of autism, including increased dendritic spine density, missing or thin corpus callosum, and reduced bone density. We show how PIN1 deficiency disrupts the functioning of powerful high-level signaling molecules, such as nuclear factor erythroid 2-related factor 2 (NRF2) and p53. Dysregulation of both of these proteins has been linked to autism. Severe depletion of glutathione in the brain resulting from chronic exposure to oxidative stressors and extracellular glutamate leads to oxidation of the cysteine residue in PIN1, inactivating the protein and further contributing to PIN1 deficiency. Impaired autophagy leads to increased sensitivity of neurons to ferroptosis. It is imperative that further research be conducted to experimentally validate whether the mechanisms described here take place in response to chronic glyphosate exposure and whether this ultimately leads to autism.

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22. Surgent O, Guerrero-Gonzalez J, Dean DC, 3rd, Adluru N, Kirk GR, Kecskemeti SR, Alexander AL, Li JJ, Travers BG. Microstructural neural correlates of maximal grip strength in autistic children: the role of the cortico-cerebellar network and attention-deficit/hyperactivity disorder features. Front Integr Neurosci. 2024; 18: 1359099.

INTRODUCTION: Maximal grip strength, a measure of how much force a person’s hand can generate when squeezing an object, may be an effective method for understanding potential neurobiological differences during motor tasks. Grip strength in autistic individuals may be of particular interest due to its unique developmental trajectory. While autism-specific differences in grip-brain relationships have been found in adult populations, it is possible that such differences in grip-brain relationships may be present at earlier ages when grip strength is behaviorally similar in autistic and non-autistic groups. Further, such neural differences may lead to the later emergence of diagnostic-group grip differences in adolescence. The present study sought to examine this possibility, while also examining if grip strength could elucidate the neuro-motor sources of phenotypic heterogeneity commonly observed within autism. METHODS: Using high resolution, multi-shell diffusion, and quantitative R1 relaxometry imaging, this study examined how variations in key sensorimotor-related white matter pathways of the proprioception input, lateral grasping, cortico-cerebellar, and corticospinal networks were associated with individual variations in grip strength in 68 autistic children and 70 non-autistic (neurotypical) children (6-11 years-old). RESULTS: In both groups, results indicated that stronger grip strength was associated with higher proprioceptive input, lateral grasping, and corticospinal (but not cortico-cerebellar modification) fractional anisotropy and R1, indirect measures concordant with stronger microstructural coherence and increased myelination. Diagnostic group differences in these grip-brain relationships were not observed, but the autistic group exhibited more variability particularly in the cortico-cerebellar modification indices. An examination into the variability within the autistic group revealed that attention-deficit/hyperactivity disorder (ADHD) features moderated the relationships between grip strength and both fractional anisotropy and R1 relaxometry in the premotor-primary motor tract of the lateral grasping network and the cortico-cerebellar network tracts. Specifically, in autistic children with elevated ADHD features (60% of the autistic group) stronger grip strength was related to higher fractional anisotropy and R1 of the cerebellar modification network (stronger microstructural coherence and more myelin), whereas the opposite relationship was observed in autistic children with reduced ADHD features. DISCUSSION: Together, this work suggests that while the foundational elements of grip strength are similar across school-aged autistic and non-autistic children, neural mechanisms of grip strength within autistic children may additionally depend on the presence of ADHD features. Specifically, stronger, more coherent connections of the cerebellar modification network, which is thought to play a role in refining and optimizing motor commands, may lead to stronger grip in children with more ADHD features, weaker grip in children with fewer ADHD features, and no difference in grip in non-autistic children. While future research is needed to understand if these findings extend to other motor tasks beyond grip strength, these results have implications for understanding the biological basis of neuromotor control in autistic children and emphasize the importance of assessing co-occurring conditions when evaluating brain-behavior relationships in autism.

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23. Wang X, Lee HK, Tong SX. Temporal dynamics and neural variabilities underlying the interplay between emotion and inhibition in autistic children. Brain Res. 2024: 149030.

This study investigated the neural dynamics underlying the interplay between emotion and inhibition in Chinese autistic children. Electroencephalography (EEG) signals were recorded from 50 autistic and 46 non-autistic children during an emotional Go/Nogo task. Based on single-trial ERP analyses, autistic children, compared to their non-autistic peers, showed a larger Nogo-N170 to angry faces and an increased Nogo-N170 amplitude variation for happy faces during early visual perception. They also displayed a smaller N200 for all faces and a diminished Nogo-N200 amplitude variation for happy and neutral faces during inhibition monitoring and preparation. During the late stage, autistic children showed a larger posterior-Go-P300 for angry faces and an augmented posterior-Nogo-P300 for happy and neutral faces. These findings clarify the differences in neural processing of emotional stimuli and inhibition between Chinese autistic and non-autistic children, highlighting the importance of considering these dynamics when designing intervention to improve emotion regulation in autistic children.

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24. Wang Y, Yan Y, Zhou B, Lin M. Post-transcriptional dysregulation in autism, schizophrenia, and bipolar disorder. J Biomed Res. 2024: 1-14.

The alteration of gene expression is not restricted to transcriptional regulation but includes a variety of post-transcriptional mechanisms, however, the role of the latter underlying many diseases remains relatively unknown. By utilizing an RNA-Seq dataset of 1510 brain samples from individuals with autism spectrum disorder (ASD), bipolar disorder (BD), schizophrenia (SCZ), and controls, we assessed the contribution of post-transcriptional dysregulation and identified top perturbators accountable for transcriptomic changes of expression in neuropsychiatric disorders. Around 30% of the variability in expression can be attributed to post-transcriptional dysregulation. Interestingly, RNA stability tended to decrease in SCZ and BD, leading to the inhibition of neurogenesis and neural differentiation, while the increase in ASD, resulted in enhanced activity of apoptosis. This finding implicated contrasting pathologies involving RNA stability among neuropsychiatric disorders. An RNA binding protein (RBP)-ELAVL3 – is predicted to be significantly involved in the disruption of RNA stability in all three disorders. To validate, we knocked down its expression in cerebral organoids. Not only differentially expressed genes in ELAVL3-knockdown covered a considerable proportion of predicted targets in three disorders, we also found neurogenesis was significantly affected, given the diminished proliferation and consequently the reduced size of the organoids. Our study extends the current understanding of the link between post-transcriptional regulation and neuropsychiatric disorders and provides new therapeutic targets for early intervention.

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25. Xia Y, Xia C, Jiang Y, Chen Y, Zhou J, Dai R, Han C, Mao Z, Liu C, Chen C. Transcriptomic sex differences in postmortem brain samples from patients with psychiatric disorders. Sci Transl Med. 2024; 16(749): eadh9974.

Many psychiatric disorders exhibit sex differences, but the underlying mechanisms remain poorly understood. We analyzed transcriptomics data from 2160 postmortem adult prefrontal cortex brain samples from the PsychENCODE consortium in a sex-stratified study design. We compared transcriptomics data of postmortem brain samples from patients with schizophrenia (SCZ), bipolar disorder (BD), and autism spectrum disorder (ASD) with transcriptomics data of postmortem control brains from individuals without a known history of psychiatric disease. We found that brain samples from females with SCZ, BD, and ASD showed a higher burden of transcriptomic dysfunction than did brain samples from males with these disorders. This observation was supported by the larger number of differentially expressed genes (DEGs) and a greater magnitude of gene expression changes observed in female versus male brain specimens. In addition, female patient brain samples showed greater overall connectivity dysfunction, defined by a higher proportion of gene coexpression modules with connectivity changes and higher connectivity burden, indicating a greater degree of gene coexpression variability. We identified several gene coexpression modules enriched in sex-biased DEGs and identified genes from a genome-wide association study that were involved in immune and synaptic functions across different brain cell types. We found a number of genes as hubs within these modules, including those encoding SCN2A, FGF14, and C3. Our results suggest that in the context of psychiatric diseases, males and females exhibit different degrees of transcriptomic dysfunction and implicate immune and synaptic-related pathways in these sex differences.

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26. Zhang S, Jiang L, Hu Z, Liu W, Yu H, Chu Y, Wang J, Chen Y. T1w/T2w ratio maps identify children with autism spectrum disorder and the relationships between myelin-related changes and symptoms. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 134: 111040.

BACKGROUND: Modern neuroimaging methods have revealed that autistic symptoms are associated with abnormalities in brain morphology, connectivity, and activity patterns. However, the changes in brain microstructure underlying the neurobiological and behavioral deficits of autism remain largely unknown. METHODS: we characterized the associated abnormalities in intracortical myelination pattern by constructing cortical T1-weighted/T2-weighted ratio maps. Voxel-wise comparisons of cortical myelination were conducted between 150 children with autism spectrum disorder (ASD) and 139 typically developing (TD) children. Group differences in cortical T1-weighted/T2-weighted ratio and gray matter volume were then examined for associations with autistic symptoms. A convolutional neural network (CNN) model was also constructed to examine the utility of these regional abnormalities in cortical myelination for ASD diagnosis. RESULTS: Compared to TD children, the ASD group exhibited widespread reductions in cortical myelination within regions related to default mode, salience, and executive control networks such as the inferior frontal gyrus, bilateral insula, left fusiform gyrus, bilateral hippocampus, right calcarine sulcus, bilateral precentral, and left posterior cingulate gyrus. Moreover, greater myelination deficits in most of these regions were associated with more severe autistic symptoms. In addition, children with ASD exhibited reduced myelination in regions with greater gray matter volume, including left insula, left cerebellum_4_5, left posterior cingulate gyrus, and right calcarine sulcus. Notably, the CNN model based on brain regions with abnormal myelination demonstrated high diagnostic efficacy for ASD. CONCLUSIONS: Our findings suggest that microstructural abnormalities in myelination contribute to autistic symptoms and so are potentially promising therapeutic targets as well as biomarkers for ASD diagnosis.

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