1. Braverman Y, Edmunds SR, Hastedt I, Faja S. Mind the Gap: Executive Function Is Associated with the Discrepancy Between Cognitive and Adaptive Functioning in Autistic Children Without Cognitive Delay. J Autism Dev Disord;2024 (May 23)

Adaptive functioning is central to autistic individuals’ independence and well-being. However, autism spectrum disorder (ASD) is associated with poor adaptive functioning, even in the absence of cognitive delays or deficits. This study examined how age and executive function associate with adaptive functioning-particularly the gap between cognitive and adaptive functioning. We addressed our research questions separately for a school-age (N = 101 ages 7-12) cohort and a preschool (N = 48 ages 2 and 4) cohort of autistic children without cognitive delays. Both cohorts of parents reported on their children’s adaptive and executive functioning skills. The difference between adaptive and cognitive skills was computed for each participant. For each cohort, we evaluated whether adaptive skills decline with age. Next, we measured, in each cohort, whether children’s executive function corresponded with this gap between their adaptive and cognitive skills. Adaptive functioning did not decline relative to cognitive ability in the younger cohort, but the gap was present in the school-age cohort. Yet, reduced executive function consistently corresponded with a greater cognitive-adaptive gap in socialization domains for both preschool and school-age children. Targeting EF, specifically emotional control, during preschool years may support both adaptive functioning and social connectedness for autistic children without cognitive delays.

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2. Cabana-Domínguez J, Bosch R, Soler Artigas M, Alemany S, Llonga N, Vilar-Ribó L, Carabí-Gassol P, Arribas L, Macias-Chimborazo V, Español-Martín G, Del Castillo C, Martínez L, Pagerols M, Pagespetit È, Prat R, Puigbó J, Ramos-Quiroga JA, Casas M, Ribasés M. Dissecting the polygenic contribution of attention-deficit/hyperactivity disorder and autism spectrum disorder on school performance by their relationship with educational attainment. Mol Psychiatry;2024 (May 23)

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD) are strongly associated with educational attainment (EA), but little is known about their genetic relationship with school performance and whether these links are explained, in part, by the genetic liability of EA. Here, we aim to dissect the polygenic contribution of ADHD and ASD to school performance, early manifestation of psychopathology and other psychiatric disorders and related traits by their relationship with EA. To do so, we tested the association of polygenic scores for EA, ADHD and ASD with school performance, assessed whether the contribution of the genetic liability of ADHD and ASD to school performance is influenced by the genetic liability of EA, and evaluated the role of EA in the genetic overlap between ADHD and ASD with early manifestation of psychopathology and other psychiatric disorders and related traits in a sample of 4,278 school-age children. The genetic liability for ADHD and ASD dissected by their relationship with EA show differences in their association with school performance and early manifestation of psychopathology, partly mediated by ADHD and ASD symptoms. Genetic variation with concordant effects in ASD and EA contributes to better school performance, while the genetic variation with discordant effects in ADHD or ASD and EA is associated with poor school performance and higher rates of emotional and behavioral problems. Our results strongly support the usage of the genetic load for EA to dissect the genetic and phenotypic heterogeneity of ADHD and ASD, which could help to fill the gap of knowledge of mechanisms underlying educational outcomes.

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3. Choi A, Lee H, Jeong HE, Lee SY, Kwon JS, Han JY, Choe YJ, Shin JY. Association between exposure to antibiotics during pregnancy or early infancy and risk of autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children: population based cohort study. Bmj;2024 (May 22);385:e076885.

OBJECTIVE: To evaluate the association between antibiotic use during pregnancy or early infancy and the risk of neurodevelopmental disorders in children. DESIGN: Nationwide population based cohort study and sibling analysis. SETTING: Korea’s National Health Insurance Service mother-child linked database, 2008-21. PARTICIPANTS: All children live born between 2009 and 2020, followed up until 2021 to compare those with and without antibiotic exposure during pregnancy or early infancy (first six months of life). MAIN OUTCOMES MEASURES: Autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children. After 1:1 propensity score matching based on many potential confounders, hazard ratios with 95% confidence interval were estimated using Cox proportional hazard models. A sibling analysis additionally accounted for unmeasured familial factors. RESULTS: After propensity score matching, 1 961 744 children were identified for the pregnancy analysis and 1 609 774 children were identified for the early infancy analysis. Although antibiotic exposure during pregnancy was associated with increased risks of all four neurodevelopmental disorders in the overall cohort, these estimates were attenuated towards the null in the sibling analyses (hazard ratio for autism spectrum disorder 1.06, 95% confidence interval 1.01 to 1.12; intellectual disorder 1.00, 0.93 to 1.07; language disorder 1.05, 1.02 to 1.09; and epilepsy 1.03, 0.98 to 1.08). Likewise, no association was observed between antibiotic exposure during early infancy and autism spectrum disorder (hazard ratio 1.00, 0.96 to 1.03), intellectual disorder (1.07, 0.98 to 1.15), and language disorder (1.04, 1.00 to 1.08) in the sibling analyses; however, a small increased risk of epilepsy was observed (1.13, 1.09 to 1.18). The results generally remained consistent across several subgroup and sensitivity analyses, except for slightly elevated risks observed among children who used antibiotics during very early life and those who used antibiotics for more than 15 days. CONCLUSIONS: In this large cohort study, antibiotic exposure during pregnancy or early infancy was not associated with an increased risk of autism spectrum disorder, intellectual disorder, or language disorder in children. However, elevated risks were observed in several subgroups such as children using antibiotics during very early life and those with long term antibiotic use, which warrants attention and further investigation. Moreover, antibiotic use during infancy was modestly associated with epilepsy, even after control for indications and familial factors. When prescribing antibiotics to pregnant women and infants, clinicians should carefully balance the benefits of use against potential risks.

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4. Davy G, Barbaro J, Unwin K, Clark M, Jellett R, Date P, Muniandy M, Dissanayake C. Child and caregiver predictors of primary caregiver participation in families of school-aged Autistic children. Autism Res;2024 (May 23)

Engaging in meaningful activities (e.g., leisure, spiritual, fitness) significantly affects caregivers’ quality of life (QoL), yet the determinants of participation in caregivers of Autistic children remain largely unknown. The current study examined child and caregiver correlates of primary caregiver participation in meaningful activities. One hundred and six primary caregivers of Autistic children (7-12 years) were recruited from three unique cohorts of Autistic children in this cross-sectional study. Primary caregivers completed online questionnaires measuring occupational gaps (i.e., desired activities caregivers are not participating in), QoL, parenting stress, perceived family outcomes, and social support. In addition to undertaking direct assessments of children’s cognition and language, primary caregivers also reported on their child’s adaptive behavior, social-emotional skills, and participation. Caregivers reporting fewer occupational gaps (i.e., ≤2 desired activities) were more likely to have Autistic children with no co-occurring conditions, who were older, and with better adaptive behaviors, social-emotional skills, and more frequent home and school participation, compared to caregivers reporting many gaps (i.e., ≥3 desired activities). Caregivers with fewer occupational gaps also reported improved QoL, parenting stress, social support, perceived community inclusiveness, and family outcomes. Logistic regression analysis identified child age, child adaptive behavior, social-emotional skills, home participation, and the caregivers’ perceived family outcomes and QoL as important predictors of their occupational gaps. The findings demonstrate that caregiver participation in desired activities was associated with increased functional ability and independence of the child, as well as their perceived capacity to meet their child’s needs. Supporting parents’ sense of efficacy in meeting their children’s needs and building their skills and knowledge will serve to improve both caregiver and child outcomes.

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5. Du X, Sun L, Dong Q. A family perspective for the mechanism of parent-child conflict on maternal anxiety in Chinese children with autism. BMC Psychol;2024 (May 22);12(1):286.

BACKGROUND: Mothers of children with autism reported higher levels of anxiety than mothers of typical children. This study revealed the relationship between parent-child conflict, children’s problem behavior, parenting stress, and maternal anxiety from the perspective of the relationship within the family. METHODS: The State-Trait Anxiety Inventory (STAI) and Caregiver Strain Questionnaire (CGSQ) were used to measure maternal anxiety and parenting stress respectively from 102 mothers of children with autism. We also collected information on parent-child relationships and children’s problem behaviors by using the Child-Parent Relationship Scale (CPRS) and Conners Parent Symptom Questionnaire (PSQ). RESULTS: Parent-child conflict positively predicted state and trait anxiety in mothers of children with autism. The severity of children’s psychosomatic disorders fully mediated the positive association between parent-child conflict and state-trait anxiety in mothers of children with autism. Parenting stress significantly moderated the impact of parent-child conflict on maternal state anxiety and trait anxiety. CONCLUSION: In the case of children with autism spectrum disorders, parent-child conflict can directly affect maternal anxiety levels, especially when mothers have low levels of parenting stress. Parent-child conflict can also affect children’s problem behaviors and thus indirectly affect maternal anxiety. Therefore, this study is of great significance for the alleviation of anxiety of mothers of autistic children and the family intervention for the early rehabilitation of autistic children.

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6. Enav Y, Knudtson M, Goldenberg A, Gross JJ. Effect of partner presence on emotion regulation during parent-child interactions. Sci Rep;2024 (May 22);14(1):11732.

Having people around, especially if they provide social support, often leads to positive outcomes both physically and mentally. Mere social presence is especially beneficial when it comes from a loved one or romantic partner. In these studies, we aim to expand the understanding of how the presence of one’s romantic partner affects emotion regulation in parental situations. Specifically, we examined how partner presence influences the parent’s emotional intensity, emotion regulation, and interpretation of their child’s emotion regulation. We examined these questions in parents of both non-autistic children (Study 1) as well as autistic children (Study 2), which we hypothesize leads to more intense emotional interactions. The parents of autistic children were better able to regulate their emotions when their partners were present compared to when they were absent. Furthermore, in both studies, parents’ ratings of their children’s ability to regulate their emotions were higher when their parent’s partner was present compared to when the partner was absent. However, in both studies, we found no significant difference in the parents’ emotional intensity when their partners were present compared to when their partners were absent during the emotionally charged interaction with their child. Our findings help highlight the impact of partner presence on parent and child emotion regulation.

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7. Hong S, Lee Y, Park W. Evaluating the delivery of physical activity for people with developmental disabilities using an online knowledge translation approach: part 2 – content quality. Disabil Rehabil Assist Technol;2024 (May 22):1-9.

OBJECTIVE: Web-based platforms for delivering physical activity (PA) to people with developmental disabilities have a great potential to improve the lives of many. However, their design, including the content design, lacks sufficient investigation. This study aims to evaluate three online platforms for delivering PA to people with developmental disabilities in terms of content quality and identify relevant barriers and facilitators of PA delivery. METHODS: The study used a methodological triangulation approach which involved quantitative evaluations by experts using an evaluation rubric, on-site observations and in-depth interviews with recruited participants. The participants consisted of 15 pairs of individuals, each consisting of a person with developmental disabilities and their primary caregiver. They were instructed to watch and follow five PA video content from each of the three platforms. The on-site observations and interviews were conducted in a large computer-equipped meeting room setting. RESULTS: The quantitative and qualitative analysis identified a set of barriers and facilitators of PA delivery related to content quality. Key barriers identified include a lack of content diversity, insufficient understanding of developmental disabilities among content creators, inappropriate language usage, and resistance to engaging in physical activities in home settings. Significant facilitators were pinpointed, such as incorporating engaging elements for individuals with developmental disabilities, utilising easy-read language, and ensuring sufficient repetition for effective learning. The results from the triangulation showed that the multiple methods were complementary and converged on the same outcome. DISCUSSION: The study findings could contribute to the development of adequately adapted PA content to distribute knowledge to populations with developmental disabilities. Content delivered via online platforms has the potential to convey knowledge about physical activity to a significant number of individuals with developmental disabilities without the limitations of time and space.The absence of prescribed content guidelines to effectively impart physical activity to individuals with developmental disabilities impedes the process of online knowledge translation.There is a requirement for varied physical activity content encompassing various individuals with developmental disabilities, considering their diverse learning contexts.It is essential that content development is evaluated with input from experts in developmental disabilities in order to provide quality physical activity information for people with developmental disabilities. eng

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8. Izuno-Garcia AK, Vanderburg JL, Pagán AF, Loveland KA. Brief Report: Self-Reported Medication Use in Individuals Diagnosed with Autism Spectrum Disorder in Adulthood: A U.S. Clinic Sample from 2012 to 2022. J Autism Dev Disord;2024 (May 23)

PURPOSE: As the understanding of autism spectrum disorder (ASD) across the lifespan has increased, so has the number of individuals being identified with ASD for the first time in adulthood. Understanding co-occurring psychiatric conditions in this subset of the ASD population is a growing focus of research; however, little is known about the rate at which psychiatric medications are prescribed to adults with a first-time diagnosis of ASD. The purpose of this study was to examine self-reported medication use in persons diagnosed with ASD in adulthood in a clinic sample (2012-2022) in the United States. METHODS: The present study was a retrospective record review. Participants (n = 281) were drawn from an outpatient clinic specializing in the diagnosis of ASD in adults. Participants self-reported previous and current psychiatric medication prescription using a medication checklist. RESULTS: Approximately 50% of participants self-reported being prescribed at least one psychiatric medication at the time of their initial evaluation appointment. The most commonly prescribed psychiatric medications were antidepressants (23.8%), followed by stimulants (16.7%). CONCLUSION: Similar to individuals diagnosed with ASD in childhood, those identified with ASD for the first time in adulthood are prescribed psychiatric medication at a much higher rate than their same-age non-autistic peers. These results can inform future research and practice for improving outcomes for autistic adults, particularly those who were undiagnosed for much of their lives.

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9. Lee IO, Wolstencroft J, Housby H, van den Bree MBM, Chawner S, Hall J, Skuse DH. The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities. J Intellect Disabil Res;2024 (May 22)

BACKGROUND: Children and young people (CYP) with intellectual and developmental disabilities (IDDs) have significant additional educational needs compared with the general population. In England, the government has established a system of education, health and care plans (EHCPs) to support children with special educational needs and disabilities, but disparities exist between the degree of need and the availability of support. We conducted a prospective UK national cohort study (IMAGINE) of children with rare pathogenic genomic variants, all of which are associated with IDD, to investigate associated neuropsychiatric risk. Subsequently, we obtained information from the UK’s National Pupil Database on their educational progress through the state school system. We aimed to identify whether they had received EHCP provision and whether that support was associated with their family’s socioeconomic status, region of domicile, ethnicity, sex, primary special educational needs (SEN) type, academic performance and mental health well-being. METHODS: We recruited 2738 CYP from England into the IMAGINE study between 2014 and 2019. The educational histories of the participants (6-28 years old, mean ± standard deviation = 14 ± 4 years, 56% male) were obtained from the Department for Education’s National Pupil Database in 2021. Educational data included attainment scores from the Early Year Foundation Stage (<5 years) to key stage 4 (15-16 years). Each family was assigned an index of multiple deprivation (IMD) score based on their home address postcode. Parents or carers rated their child's emotional and behavioural adjustment on the Strengths and Difficulties Questionnaire (SDQ). The association between receiving an EHCP and the child's IMD score, eligibility for free school meals, English region of domicile, ethnicity, sex, primary SEN type, academic attainment and SDQ score was investigated. RESULTS: In this cohort, 78% of participants had received an EHCP. CYP living in the most deprived IMD deciles were substantially less likely to receive EHCP support than those in the least deprived decile, irrespective of their degree of intellectual developmental disability, academic performance or associated mental health problems. There were no sex differences. Children of Asian heritage were more likely to have been granted an EHCP than White children from equivalent IMD deciles. There were striking regional disparities. Participants living in London were significantly more likely to have been awarded an EHCP than participants living anywhere else in England, regardless of their IMD decile; those in the least deprived decile had almost 100% EHCP provision. CONCLUSIONS: This study found evidence for nationwide regional inconsistencies in the awarding of EHCP to CYP with significant intellectual impairments of known genetic aetiology. Disparities in funds available to education authorities could be a contributory factor. EHCP support was potentially influenced by how strongly a parent advocates for their child.

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10. Martinez JD, Wilson LG, Brancaleone WP, Peterson KG, Popke DS, Garzon VC, Perez Tremble RE, Donnelly MJ, Mendez Ortega SL, Torres D, Shaver JJ, Jiang S, Yang Z, Aton SJ. Hypnotic treatment improves sleep architecture and EEG disruptions and rescues memory deficits in a mouse model of fragile X syndrome. Cell Rep;2024 (May 23);43(6):114266.

Fragile X syndrome (FXS) is associated with disrupted cognition and sleep abnormalities. Sleep loss negatively impacts cognitive function, and one untested possibility is that disrupted cognition in FXS is exacerbated by abnormal sleep. We tested whether ML297, a hypnotic acting on G-protein-activated inward-rectifying potassium (GIRK) channels, could reverse sleep phenotypes and disrupted memory in Fmr1(-/y) mice. Fmr1(-/y) mice exhibit reduced non-rapid eye movement (NREM) sleep and fragmented NREM architecture, altered sleep electroencephalogram (EEG) oscillations, and reduced EEG coherence between cortical areas; these are partially reversed following ML297 administration. Treatment following contextual fear or spatial learning restores disrupted memory consolidation in Fmr1(-/y) mice. During memory recall, Fmr1(-/y) mice show an altered balance of activity among hippocampal principal neurons vs. parvalbumin-expressing interneurons; this is partially reversed by ML297. Because sleep disruption could impact neurophysiological phenotypes in FXS, augmenting sleep may improve disrupted cognition in this disorder.

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11. Piatti A, Van der Paelt S, Warreyn P, Roeyers H. Neural correlates of response to joint attention in 2-to-5-year-olds in relation to ASD and social-communicative abilities: An fNIRS and behavioral study. Autism Res;2024 (May 23)

Autism spectrum disorder (ASD) is associated with life-long challenges with social cognition, and one of its earliest and most common manifestations is atypical joint attention, which is a pivotal skill in social-cognitive and linguistic development. Early interventions for ASD children often focus on training initiation of joint attention (IJA) and response to joint attention bids (RJA), which are important for social communication and cognition. Here, we used functional near-infrared spectroscopy and behavioral measures to test typically developing (TD, n = 17) and ASD children (n = 18), to address the relationship between the neural correlates of RJA and social-communicative behavior. Group-level differences were present for RJA-specific activation over right temporal sites, where TD children showed higher levels of activation during RJA than ASD children, whereas the two groups did not differ in the control condition. Correlations between neural activation and behavioral traits suggest that, in ASD children, neural activation during RJA is related to the frequency of RJA behavior when the former is measured over left temporal sites, and to social affect symptoms when considered for right temporal sites. Possible implications of the evidenced correlations are discussed.

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12. Poole D, Grange JA, Milne E. Putting the Spotlight Back Onto the Flanker Task in Autism: Autistic Adults Show Increased Interference from Foils Compared with Non-autistic Adults. J Cogn;2024;7(1):46.

Autistic people may have a less focused spotlight of spatial selective attention than non-autistic people, meaning that distracting stimuli are less effectively suppressed. Previous studies using the flanker task have supported this suggestion with observations of increased congruency effects in autistic participants. However, findings across studies have been mixed, mainly based on research in children and on response time measures, which may be influenced by differences in response strategy between autistic and non-autistic people rather than differences in selective attention. In this pre-registered study, 153 autistic and 147 non-autistic adults completed an online flanker task. The aims of this study were to test whether increased congruency effects replicate in autistic adults and to extend previous work by fitting a computational model of spatial selective attention on the flanker task to the data. Congruency effects were increased in the autistic group. The modelling revealed that the interference time from the foils was increased in the autistic group. This suggests that the activation of the foils was increased, meaning suppression was less effective for autistic participants. There were also differences in non-interference parameters between the groups. The estimate of response caution was increased in the autistic group and the estimate of perceptual efficiency was decreased. Together these findings suggest inefficient suppression, response strategy and perceptual processing all contribute to differences in performance on the flanker task between autistic and non-autistic people.

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13. Rants S, Bradish K, Conlin H, Crandall N, Kirby N, Williams RM. PEERS® Curriculum for Children with Autism Spectrum Disorder: A Scoping Review. Phys Occup Ther Pediatr;2024 (May 23):1-9.

AIMS: The Program for the Education and Enrichment of Relational Skills (PEERS®), designed to enhance social skills and relationships for individuals with autism spectrum disorder (ASD) and their caregivers, has primarily been implemented with older children and adolescents ages 11-19, leaving a gap in research on its effectiveness in young children. This scoping review assesses evidence of the effectiveness of the PEERS® program for children with ASD. METHODS: A literature search was conducted, resulting in 97 articles. Following the implementation of inclusion and exclusion criteria, four articles of Level III and IV evidence based on CEBM guidelines were included in this review. RESULTS: All studies demonstrated positive findings regarding social skills development with one study revealing statistically significant results in increasing social skills and decreasing problem behaviors after participation in the PEERS® program. CONCLUSIONS: This scoping review found improvements in the PEERS® programs for social skills in young children (ages 4-7) with ASD. However, further research is warranted, emphasizing larger sample sizes, consideration of external factors, and implementation of randomization and blinding in future studies.

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14. Richard Williams N, Hurt-Thaut C, Brian J, Tremblay L, Pranjić M, Teich J, Tan M, Kowaleski J, Thaut M. Improved motor skills in autistic children after three weeks of neurologic music therapy via telehealth: a pilot study. Front Psychol;2024;15:1355942.

BACKGROUND: Many autistic children experience motor skill deficits which can impact other areas of functioning, and research on therapeutic interventions for motor skills in autism is in a preliminary stage. Music-based therapies have been used extensively to address motor skills in non-autistic populations. Though a handful of studies exist on the effects of music-based therapies for movement in autistic children, none have investigated the possibility of administering sessions via telehealth. This mixed-methods pilot study investigated whether nine Neurologic Music Therapy (NMT)(®) sessions via telehealth would improve motor and attention skills in autistic children. METHODS: Five autistic children between five and 10 years of age participated in the study, with support from their caregivers. Motor skills were assessed using the Bruininks-Oseretsky Test of Motor Proficiency second edition, short form (BOT-2 SF), and a selective attention and sustained attention task were taken from the Test of Everyday Attention for Children, Second Edition (TEA-Ch2). Caregivers and the two neurologic music therapists involved in the study provided qualitative input about the perceived effectiveness of telehealth NMT for the children involved. Their responses were analyzed using qualitative content analysis. Caregivers also filled out a Sensory Profile 2 assessment prior to the onset of sessions so that each child’s sensory profile could be compared to their motor and attention results. RESULTS: Statistically significant improvements in motor skills were observed between pre-test assessment and a two-week follow-up assessment. Results from attention test scores were not significant. Caregivers and neurologic music therapists generally perceived sessions positively and noted the importance of having caregivers actively involved. When compared with individual progress on the BOT-2 SF assessment, sensory profile results revealed that children with fewer sensory sensitivities tended to improve the most on motor skills. The improvements in motor skills and positive caregiver and therapist views of telehealth indicate that NMT motor interventions administered via telehealth are a promising avenue of therapeutic support for movement skill development in autistic children.

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15. Sallum JMF, de Vasconcellos CFC, Pellissari MC, Carreiro LR. Screening for Autism Spectrum Disorder in children and adolescents with Leber’s congenital amaurosis. Am J Ophthalmol;2024 (May 20)

PURPOSE: To investigate autism spectrum disorder (ASD) indicators in children with Leber congenital amaurosis (LCA). METHODS: Cross-sectional, correlational, and prospective study. Participants included patients aged 2 to 16 years with LCA confirmed by genetic testing. There were 20 individuals with ciliopathies (LCA cilio) and 26 with other gene mutations (LCA other). The instrument used for ASD screening was the Autism Behavior Checklist (ABC). Marginal descriptive analyses, non-parametric tests, and a linear regression model were conducted. RESULTS: Of the 46 participants, 6 had ASD scores. There was no statistically significant correlation between the different groups (LCA cilio and LCA other) (p=0.438). There was no statistically significant correlation between age and ASD (p=0.308). However, there was a statistically significant correlation between visual acuity and ASD (p=0.008) and between male gender and ASD (p=0.025). CONCLUSIONS: This study suggests that there is no correlation between LCA cilio, LCA other and ASD. These findings bring new insights to the existing literature, which previously lacked robust data on the relationship between LCA and ASD. These data demonstrate that visual acuity plays a crucial role in the development of children with visual impairment as poorer visual acuity is associated with a higher incidence of ASD. Based on this study, early interventions can be designed, especially for individuals without light perception, with the aim of maximizing their developmental outcomes. Furthermore, such data indicates that any improvement in visual acuity outcomes in treatment clinical trials become relevant for child development.

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16. Thomson AR, Pasanta D, Arichi T, Puts NA. Neurometabolite differences in Autism as assessed with Magnetic Resonance Spectroscopy: A systematic review and meta-analysis. Neurosci Biobehav Rev;2024 (May 23);162:105728.

(1)H-Magnetic Resonance Spectroscopy (MRS) is a non-invasive technique that can be used to quantify the concentrations of metabolites in the brain in vivo. MRS findings in the context of autism are inconsistent and conflicting. We performed a systematic review and meta-analysis of MRS studies measuring glutamate and gamma-aminobutyric acid (GABA), as well as brain metabolites involved in energy metabolism (glutamine, creatine), neural and glial integrity (e.g. n-acetyl aspartate (NAA), choline, myo-inositol) and oxidative stress (glutathione) in autism cohorts. Data were extracted and grouped by metabolite, brain region and several other factors before calculation of standardised effect sizes. Overall, we find significantly lower concentrations of GABA and NAA in autism, indicative of disruptions to the balance between excitation/inhibition within brain circuits, as well as neural integrity. Further analysis found these alterations are most pronounced in autistic children and in limbic brain regions relevant to autism phenotypes. Additionally, we show how study outcome varies due to demographic and methodological factors , emphasising the importance of conforming with standardised consensus study designs and transparent reporting.

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17. Wamsley B, Bicks L, Cheng Y, Kawaguchi R, Quintero D, Margolis M, Grundman J, Liu J, Xiao S, Hawken N, Mazariegos S, Geschwind DH. Molecular cascades and cell type-specific signatures in ASD revealed by single-cell genomics. Science;2024 (May 24);384(6698):eadh2602.

Genomic profiling in postmortem brain from autistic individuals has consistently revealed convergent molecular changes. What drives these changes and how they relate to genetic susceptibility in this complex condition are not well understood. We performed deep single-nucleus RNA sequencing (snRNA-seq) to examine cell composition and transcriptomics, identifying dysregulation of cell type-specific gene regulatory networks (GRNs) in autism spectrum disorder (ASD), which we corroborated using single-nucleus assay for transposase-accessible chromatin with sequencing (snATAC-seq) and spatial transcriptomics. Transcriptomic changes were primarily cell type specific, involving multiple cell types, most prominently interhemispheric and callosal-projecting neurons, interneurons within superficial laminae, and distinct glial reactive states involving oligodendrocytes, microglia, and astrocytes. Autism-associated GRN drivers and their targets were enriched in rare and common genetic risk variants, connecting autism genetic susceptibility and cellular and circuit alterations in the human brain.

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18. Wang Z, Zhang B, Mu C, Qiao D, Chen H, Zhao Y, Cui H, Zhang R, Li S. Androgen levels in autism spectrum disorders: a systematic review and meta-analysis. Front Endocrinol (Lausanne);2024;15:1371148.

BACKGROUND: Accumulating evidence suggests that the autism spectrum disorder (ASD) population exhibits altered hormone levels, including androgens. However, studies on the regulation of androgens, such as testosterone and dehydroepiandrosterone (DHEA), in relation to sex differences in individuals with ASD are limited and inconsistent. We conducted the systematic review with meta-analysis to quantitatively summarise the blood, urine, or saliva androgen data between individuals with ASD and controls. METHODS: A systematic search was conducted for eligible studies published before 16 January 2023 in six international and two Chinese databases. We computed summary statistics with a random-effects model. Publication bias was assessed using funnel plots and heterogeneity using I(2) statistics. Subgroup analysis was performed by age, sex, sample source, and measurement method to explain the heterogeneity. RESULTS: 17 case-control studies (individuals with ASD, 825; controls, 669) were assessed. Androgen levels were significantly higher in individuals with ASD than that in controls (SMD: 0.27, 95% CI: 0.06-0.48, P=0.01). Subgroup analysis showed significantly elevated levels of urinary total testosterone, urinary DHEA, and free testosterone in individuals with ASD. DHEA level was also significantly elevated in males with ASD. CONCLUSION: Androgen levels, especially free testosterone, may be elevated in individuals with ASD and DHEA levels may be specifically elevated in males.

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19. Wen C, Margolis M, Dai R, Zhang P, Przytycki PF, Vo DD, Bhattacharya A, Matoba N, Tang M, Jiao C, Kim M, Tsai E, Hoh C, Aygün N, Walker RL, Chatzinakos C, Clarke D, Pratt H, Peters MA, Gerstein M, Daskalakis NP, Weng Z, Jaffe AE, Kleinman JE, Hyde TM, Weinberger DR, Bray NJ, Sestan N, Geschwind DH, Roeder K, Gusev A, Pasaniuc B, Stein JL, Love MI, Pollard KS, Liu C, Gandal MJ. Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain. Science;2024 (May 24);384(6698):eadh0829.

Neuropsychiatric genome-wide association studies (GWASs), including those for autism spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the developing brain. However, prioritizing risk genes and mechanisms is challenging without a unified regulatory atlas. Across 672 diverse developing human brains, we identified 15,752 genes harboring gene, isoform, and/or splicing quantitative trait loci, mapping 3739 to cellular contexts. Gene expression heritability drops during development, likely reflecting both increasing cellular heterogeneity and the intrinsic properties of neuronal maturation. Isoform-level regulation, particularly in the second trimester, mediated the largest proportion of GWAS heritability. Through colocalization, we prioritized mechanisms for about 60% of GWAS loci across five disorders, exceeding adult brain findings. Finally, we contextualized results within gene and isoform coexpression networks, revealing the comprehensive landscape of transcriptome regulation in development and disease.

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20. Westover AN. The Future of General Psychiatry Must Include Autism Spectrum Disorder and Intellectual Disability. Acad Psychiatry;2024 (May 23)

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21. Yan X, Li Y, Li Q, Li Q, Xu G, Lu J, Yang W. Prevalence of Autism Spectrum Disorder Among Children and Adolescents in the United States from 2021 to 2022. J Autism Dev Disord;2024 (May 22)

PURPOSE: The prevalence of autism spectrum disorder (ASD) among children and adolescents seem to be high in countries around the world, and it’s worth understanding the latest prevalence and trends of ASD in children and adolescents. The purpose of this study was to examine the latest prevalence and decade trend of ASD among individuals aged 3-17 years in the United States. METHODS: A total of 13,198 individuals aged 3-17 years were included. Annual data were examined from the National Health Interview Survey (2021-2022). Weighted prevalence for each of the selected developmental disabilities were calculated. RESULTS: This cross-sectional study estimated the weighted prevalence of autism spectrum disorder were 3.05, 3.79, and 3.42% among individuals aged 3-17 years in the US in 2021, 2022, and the 2-year overall, respectively. We also observed a decade-long upward trend even after adjusting for demographic characteristics (P for trend < .05). CONCLUSION: The results of this study showed that the prevalence of ASD among children and adolescents aged 3-17 years in the United States remained high and has increased over the past decade. The further investigation is necessary to evaluate potential modifiable risk factors and causes of ASD.

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22. Yap CX, Vo DD, Heffel MG, Bhattacharya A, Wen C, Yang Y, Kemper KE, Zeng J, Zheng Z, Zhu Z, Hannon E, Vellame DS, Franklin A, Caggiano C, Wamsley B, Geschwind DH, Zaitlen N, Gusev A, Pasaniuc B, Mill J, Luo C, Gandal MJ. Brain cell-type shifts in Alzheimer’s disease, autism, and schizophrenia interrogated using methylomics and genetics. Sci Adv;2024 (May 24);10(21):eadn7655.

Few neuropsychiatric disorders have replicable biomarkers, prompting high-resolution and large-scale molecular studies. However, we still lack consensus on a more foundational question: whether quantitative shifts in cell types-the functional unit of life-contribute to neuropsychiatric disorders. Leveraging advances in human brain single-cell methylomics, we deconvolve seven major cell types using bulk DNA methylation profiling across 1270 postmortem brains, including from individuals diagnosed with Alzheimer’s disease, schizophrenia, and autism. We observe and replicate cell-type compositional shifts for Alzheimer’s disease (endothelial cell loss), autism (increased microglia), and schizophrenia (decreased oligodendrocytes), and find age- and sex-related changes. Multiple layers of evidence indicate that endothelial cell loss contributes to Alzheimer’s disease, with comparable effect size to APOE genotype among older people. Genome-wide association identified five genetic loci related to cell-type composition, involving plausible genes for the neurovascular unit (P2RX5 and TRPV3) and excitatory neurons (DPY30 and MEMO1). These results implicate specific cell-type shifts in the pathophysiology of neuropsychiatric disorders.

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23. Yasin M, Licchetta L, Khan N, Ullah I, Jan Z, Dawood M, Ahmed AN, Azeem A, Minardi R, Carelli V, Saleha S. Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families. BMC Neurol;2024 (May 23);24(1):172.

BACKGROUND: Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial. METHODS: This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy. RESULTS: Identified genetic variants contributed to a diverse range of clinical phenotypes. In the family 1, which presented with epilepsy, developmental delay (DD), sleep disturbance, and aggressive behavior, a homozygous splice site variant, c.1339-6 C > T, in the COL18A1 gene was detected. The family 2 exhibited epilepsy, intellectual disability (ID), DD, and anxiety phenotypes, a homozygous missense variant, c.344T > A (p. Val115Glu), in the UFSP2 gene was identified. In family 3, which displayed epilepsy, ataxia, ID, DD, and speech impediment, a novel homozygous frameshift variant, c.1926_1941del (p. Tyr643MetfsX2), in the ZFYVE26 gene was found. Lastly, family 4 was presented with epilepsy, ID, DD, deafness, drooling, speech impediment, hypotonia, and a weak cry. A homozygous missense variant, c.1208 C > A (p. Ala403Glu), in the ATP13A2 gene was identified. CONCLUSION: This study highlights the genetic heterogeneity in ASM-resistant epilepsy and comorbidities among Pakistani families, emphasizing the importance of genotype-phenotype correlation and the necessity for expanded genetic testing in complex clinical cases.

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24. Zhao P, Chen K, Zhu G, Li H, Chen S, Hu J, Huang L, Liu X, Guo L. Effects of aquatic exercise intervention on executive function and brain-derived neurotrophic factor of children with autism spectrum disorder. Res Dev Disabil;2024 (May 23);150:104759.

BACKGROUND: Limited knowledge exists regarding the effectiveness of aquatic exercise intervention for improving executive function (EF) in children with autism spectrum disorder (ASD). Additionally, the impact of aquatic exercise on brain-derived neurotrophic factor (BDNF) in children with ASD requires further investigation. AIMS: This study aimed to explore the effects of a 12-week aquatic exercise intervention on core EF and BDNF levels in children with ASD. METHODS AND PROCEDURES: Thirty children with ASD were assigned to an experimental or control group. The experimental group underwent a 12-week aquatic exercise intervention, while the control group engaged in supervised free activities. Pre- and post-intervention assessments measured EF and BDNF levels. OUTCOMES AND RESULTS: The experimental group showed significant improvements (p < 0.05) in inhibition control, cognitive flexibility, and BDNF levels. However, working memory did not significantly improve. The control group exhibited no significant changes in EF or BDNF levels. CONCLUSIONS AND IMPLICATIONS: Aquatic exercise appears to be a beneficial intervention for cognitive development in children with ASD, as it enhances inhibition control, cognitive flexibility, and BDNF levels in children with ASD. Furthermore, the observed improvements in EF following aquatic exercise intervention in children with ASD may be associated with increased BDNF levels.

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25. Zheng L, Jiao Y, Zhong H, Tan Y, Yin Y, Liu Y, Liu D, Wu M, Wang G, Huang J, Wang P, Qin M, Wang M, Xiao Y, Lv T, Luo Y, Hu H, Hou ST, Kui L. Human-derived fecal microbiota transplantation alleviates social deficits of the BTBR mouse model of autism through a potential mechanism involving vitamin B(6) metabolism. mSystems;2024 (May 23):e0025724.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by social communication deficiencies and stereotypic behaviors influenced by hereditary and/or environmental risk factors. There are currently no approved medications for treating the core symptoms of ASD. Human fecal microbiota transplantation (FMT) has emerged as a potential intervention to improve autistic symptoms, but the underlying mechanisms are not fully understood. In this study, we evaluated the effects of human-derived FMT on behavioral and multi-omics profiles of the BTBR mice, an established model for ASD. FMT effectively alleviated the social deficits in the BTBR mice and normalized their distinct plasma metabolic profile, notably reducing the elevated long-chain acylcarnitines. Integrative analysis linked these phenotypic changes to specific Bacteroides species and vitamin B(6) metabolism. Indeed, vitamin B(6) supplementation improved the social behaviors in BTBR mice. Collectively, these findings shed new light on the interplay between FMT and vitamin B(6) metabolism and revealed a potential mechanism underlying the therapeutic role of FMT in ASD.IMPORTANCEAccumulating evidence supports the beneficial effects of human fecal microbiota transplantation (FMT) on symptoms associated with autism spectrum disorder (ASD). However, the precise mechanism by which FMT induces a shift in the microbiota and leads to symptom improvement remains incompletely understood. This study integrated data from colon-content metagenomics, colon-content metabolomics, and plasma metabolomics to investigate the effects of FMT treatment on the BTBR mouse model for ASD. The analysis linked the amelioration of social deficits following FMT treatment to the restoration of mitochondrial function and the modulation of vitamin B(6) metabolism. Bacterial species and compounds with beneficial roles in vitamin B(6) metabolism and mitochondrial function may further contribute to improving FMT products and designing novel therapies for ASD treatment.

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26. Zhu L, Ge X, Huang W, Shao L, Ma X. Exploring the push-pull factors influencing parenting efficacy of fathers of children with ASD: a fuzzy set qualitative comparative analysis. Front Psychiatry;2024;15:1303484.

OBJECTIVES: This study aimed to explore the core factors and configurations influencing parenting efficacy for fathers of children with ASD in Western China by using a configuration analysis. BACKGROUND: Understanding the push-pull factors related to parenting efficacy for fathers raising children with ASD can support the fathers of children with ASD to participate in education affairs and improve the quality of family education, which is of significant importance to both individuals and society. This study recruited 156 fathers of children with ASD from China. RESULTS: The results suggested that there was more than one (sub) configuration for achieving a high level of parenting efficacy among fathers of children with ASD. (b) The configurations could be summarized into three main types as follows: « working within the system*flexible working time, » « high level of education*high level of other support, » and « severe disability*fewer interaction with wife. » (c) The two variables, « family income » and « community support, » were not as important as they were shown in previous studies, and their effects often depended on how they interact with other variables. CONCLUSIONS: Findings highlighted the validity of deploying configuration analysis (based on the ecosystem theory) to establish the relationship between independent variables and the parenting efficacy of fathers of children with ASD. The discovery of more than one configuration led to a new consensus on how multiple factors influence parenting efficacy. Implications were suggested for practitioners, policymakers, and future research alike.

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