1. Adachi M, Horita R, Miwa T, Tajirika S, Imamura N, Watanabe D, Ishihara T, Fukao T, Ohnishi H, Yamamoto M. Frequency and Mental Health Condition of Students with Developmental Disabilities Among First-Year Japanese University Students: A Cross-Sectional Survey. J Autism Dev Disord. 2024.

Students with developmental disabilities are anxious about a change in environment when graduating from high school to college. Existing research, which is scarce, focuses on the mental health status of students with developmental disabilities entering university. This study investigated the frequency of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) among first-year Japanese university students and their mental health risks post-admission. We conducted a cross-sectional survey for university students within a month of admission, using the Autism Spectrum Quotient (AQ) and Adult ADHD Test (A-ADHD) to demonstrate the frequency of ASD and ADHD. The Counseling Center Assessment of Psychological Symptoms (CCAPS)-Japanese (depression, eating concerns, hostility, social anxiety, family distress, alcohol use, generalized anxiety, and academic distress) evaluated their mental health condition.Of 711 students (20.3 ± 2.1 years; 330 male, 381 female), the number of those showing either ASD or ADHD tendencies was 61 (8.58%). Twenty-three (3.23%) showed symptoms of only ASD, 34 (4.78%) of ADHD, and four (0.56%) of ASD and ADHD. No significant differences existed in the frequency of ASD and ADHD between each sex and major. The scores and frequency of high risk (over the cut-off points) students on all CCAPS-Japanese subscales (except alcohol use) were significantly higher among the ASD and ADHD groups than the control group, which showed no ASD or ADHD tendencies. The frequency of ASD and ADHD characteristics among first-year Japanese university students was 8.58%. They have a high risk of mental health problems when they enter university.

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2. Alampi JD, Lanphear BP, MacFarlane AJ, Oulhote Y, Braun JM, Muckle G, Arbuckle TE, Ashley-Martin J, Hu JMY, Chen A, McCandless LC. Combined Exposure to Folate and Lead during Pregnancy and Autistic-Like Behaviors among Canadian Children from the MIREC Pregnancy and Birth Cohort. Environ Health Perspect. 2024; 132(10): 107003.

BACKGROUND: Folic acid (FA) supplementation may attenuate the associations between gestational exposure to certain chemicals and autism or autistic-like behaviors, but to our knowledge, this has not been assessed for lead. OBJECTIVES: We examined whether the relationship between gestational blood-lead levels (BLLs) and autistic-like behaviors was modified by gestational plasma total folate concentrations, FA supplementation, and maternal methylenetetrahydrofolate reductase (MTHFR) 677C>T genotype. METHODS: We used data from the Maternal-Infant Research on Environmental Chemicals study (2008-2011), a Canadian pregnancy and birth cohort study. Childhood autistic-like behaviors were documented in 601 children 3-4 y of age with the Social Responsiveness Scale-2 (SRS-2), where higher scores denote more autistic-like behaviors. We measured BLLs and plasma total folate concentrations during the first and third trimesters of pregnancy. We also estimated gestational FA supplementation via surveys and genotyped the maternal MTHFR 677C>T single nucleotide polymorphism (SNP). We estimated the confounder-adjusted associations between log2-transformed BLLs and SRS-2 scores by two indicators of folate exposure and maternal MTHFR 677C>T genotype using linear regression. RESULTS: Third-trimester BLLs were associated with increased SRS-2 scores [βadj = 3.3; 95% confidence interval (CI): 1.1, 5.5] among participants with low ( < 10th percentile), third-trimester, plasma total folate concentrations, but BLL-SRS-2 associations were null (βadj = - 0.3; 95% CI: - 1.2, 0.5) among those in the middle category ( ≥ 10th and < 80th percentiles) (p-interaction < 0.001). FA supplementation also attenuated these associations. Both folate indicators modified first-trimester BLL-SRS-2 associations, but to a lesser extent. Third-trimester BLL-SRS-2 associations were slightly stronger among participants who were homozygous for the T (minor) allele of the MTHFR 677C>T SNP (βadj = 0.9; 95% CI: – 1.2, 3.1) than those without the T allele (βadj = – 0.3; 95% CI: – 1.3, 0.7), but the difference was not statistically significant (p-interaction = 0.28). DISCUSSION: Folate may modify the associations between gestational lead exposure and childhood autistic-like behaviors, suggesting that it mitigates the neurotoxic effects of prenatal lead exposure. https://doi.org/10.1289/EHP14479.

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3. Berry ASF, Finucane BM, Myers SM, Walsh LK, Seibert JM, Martin CL, Ledbetter DH, Oetjens MT. A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk. Nat Commun. 2024; 15(1): 8897.

A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females. However, genetic and epidemiological investigations of this hypothesis have so far failed to explain the large difference in ASD prevalence between the sexes. To address this knowledge gap, we examined sex chromosome aneuploidy in a large ASD case-control cohort to evaluate the relationship between X and Y chromosome dosage and ASD risk. From these data, we modeled three relationships between sex chromosome dosage and ASD risk: the extra Y effect, the extra X effect, and sex chromosome haploinsufficiency. We found that the extra Y effect increased ASD risk significantly more than the extra X effect. Among females, we observed a large association between 45, X and ASD, confirming sex chromosome haploinsufficiency as a strong ASD risk factor. These results provide a framework for understanding the relationship between X and Y chromosome dosage on ASD, which may inform future research investigating genomic contributors to the observed sex difference.

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4. Carbone PS, Stipelman CH, Villalobos ME, Ellzey A, Stuart A, Stoddard GJ, Campbell K. A Comparison of Parent-Reported Severe Autism With Mild/Moderate Autism Among US Children. J Dev Behav Pediatr. 2024; 45(5): e422-e30.

OBJECTIVE: An expert commission has proposed the term « profound » autism for children on the spectrum who are minimally verbal or nonverbal and have intellectual disability (ID), behavioral challenges, and co-occurring conditions. It is unknown whether parents’ rating of « severe » autism aligns with the definition of « profound » autism. Using the National Survey of Children’s Health, we sought to (1) estimate the prevalence of parent-reported severe autism, (2) identify child characteristics that are associated with severe autism, (3) compare health care utilization, and (4) compare caregiver stress and resilience between families of children with severe versus mild/moderate autism. METHODS: Parent responses on the 2018 to 2019 NSCH were used to compare school-age children with parent-reported severe autism and those with mild/moderate autism. Descriptive statistics, χ 2 tests, and logistic regression were used for statistical analysis. RESULTS: Among parents of 1,368 US children with autism, 10.1% characterized their child’s autism as severe, a prevalence of 1 in 333. Parents of children with severe autism were more likely to report ID (45% vs 12.1%, p < 0.001), language delay (88% vs 58.7%, p < 0.001), and difficulties in dressing and bathing (67% vs 19.2%, p < 0.001). Children with severe autism had more behavioral problems and co-occurring conditions but were no more likely to see specialists or receive autism-specific behavioral therapy. Their caregivers reported more stress and less resilience. CONCLUSION: The characteristics of "profound" autism and parent-reported "severe" autism significantly overlap, allowing the use of the NSCH for studies of this vulnerable population. Children with profound/severe autism could benefit from more behavioral therapy, specialty care, and family support.

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5. Chasse R, McLeod R, Surian A, Fitch RH, Li J. The role of cerebellar FOXP1 in the development of motor and communicative behaviors in mice. Genes Brain Behav. 2024; 23(5): e70001.

The gene FOXP2 is well established for a role in human speech and language; far less is known about FOXP1. However, this related gene has also been implicated in human language development as well as disorders associated with features of autism spectrum disorder (ASD). FOXP1 protein expression has also recently been identified in the cerebellum-a neural structure previously shown to express FOXP2 protein. The current study sought to elucidate the behavioral implications of a conditional knock-out of Foxp1 using an En1-Cre driver, which is active in the entirety of the cerebellum and a subset of neurons in the midbrain and spinal cord, in mice using a test battery including motor tasks associated with cerebellar dysfunction, as well as communicative and autistic-relevant behaviors. Male and female mice with a conditional knock-out (cKO, n = 31) and wildtype littermate controls (WT, n = 34) were assessed for gross and orofacial motor control, motor-coordination learning, locomotion, social behavior, anxiety, auditory processing and expressive vocalizations. Overall results suggest Foxp1 plays a specific role in the development of communicative systems, and phenotypic expression of disruptions may interact with sex. Robust motor deficits associated with Foxp1 protein loss may particularly affect vocalizations based on significant orofacial motor deficits in cKO subjects could also contribute to vocalization anomalies. In summary, the current study provides key insights into the role of Foxp1 in cerebellar function and associated behaviors in mice, with implications for an improved understanding of communicative and motor-based neurodevelopmental disabilities in humans.

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6. Cillari N, Neri G, Pisanti N, Milazzo P, Borello U. RettDb: the Rett syndrome omics database to navigate the Rett syndrome genomic landscape. Database (Oxford). 2024; 2024.

Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females and leading to a variety of impairments and disabilities from mild to severe. In >95% cases, RTT is due to mutations in the X-linked gene MECP2, but the molecular mechanisms determining RTT are unknown at present, and the complexity of the system is challenging. To facilitate and provide guidance to the unraveling of those mechanisms, we developed a database resource for the visualization and analysis of the genomic landscape in the context of wild-type or mutated Mecp2 gene in the mouse model. Our resource allows for the exploration of differential dynamics of gene expression and the prediction of new potential MECP2 target genes to decipher the RTT disorder molecular mechanisms. Database URL: https://biomedinfo.di.unipi.it/rett-database/.

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7. Connor ZL, Atkinson L, Bryant-Waugh R, Maidment I, Blissett J. Development of a toolkit to help parents/caregivers manage feeding problems in autistic children: A protocol for a realist synthesis and toolkit co-design. PLoS One. 2024; 19(10): e0309410.

Many autistic children have feeding problems, typically eating a limited range of foods. Feeding problems affect quality of life, health, and development. Research suggests that parents are often unsure when to or whether to seek help. When they do, local provision of help across the UK is often lacking. A toolkit could offer a tailored, accessible, and scalable early intervention to support parents. We aim to develop the blueprint of a toolkit to help parents/caregivers manage feeding problems in their autistic children. Medical Research Council guidance on developing complex interventions informs three successive work packages: Realist review: a literature search and analysis using realist theory of logic to construct programme theory(s) in line with RAMESES (Realist And Meta-narrative Evidence Syntheses: Evolving Standards) guidance.Realist evaluation: interviews of three groups: autistic children, young people and adults (experts), parents/caregivers of autistic children (parents), and professionals who help parents manage feeding problems (professionals) across the UK. Analysis of verbatim interview transcripts using realist theory of logic to refine programme theory(s).Co-design of the toolkit blueprint: behaviour change theory applied to the programme theory(s) will generate candidate components for the online tool. A blueprint (a detailed textual outline) will be co-designed. A participatory research team of experts, parents, and professionals will be involved in each work package. Where consensus is needed it will be reached by asynchronous nominal group technique. A PPI (public and patient involvement) advisory group of experts and parents will ensure the project is relevant, respectful, and accessible. Findings of each step will be disseminated via journal publications, conferences, social media, as well as PPI-co-produced webinars and a dissemination event. On completion, this project will provide the foundation for the subsequent development and refinement of the prototype toolkit.

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8. Di Cesare G, Bruschetta R, Vitale A, Pelosi A, Leonardi E, Famà FI, Mastrogiuseppe M, Carrozza C, Aiello S, Campisi A, Minutoli R, Chilà P, Campisi S, Marino F, Pioggia G, Tartarisco G, Cuccio V, Ruta L. Exploring divergent kinematics in autism across social and non-social vitality forms. Sci Rep. 2024; 14(1): 24164.

Vitality Forms (VFs) constitute the dynamic essence of human actions, providing insights into how individuals engage in activities. The ability to perceive and express VFs during interpersonal interactions is pivotal for understanding others’ intentions, behaviors, and fostering effective social communication. Despite their ubiquity in all actions, research exploring the role of VFs in neurodivergent conditions related to social and communicative skills, particularly in autism, remains limited. This study aims to investigate the expression of different VFs during the execution of both social and non-social actions in children with an Autism Spectrum Condition (ASC) in comparison to neurotypical children (NT). ASC children and NT children were asked to move a small bottle either towards a target point (non-social context) or moving it towards a receiver (social context) with different VFs specifically neutral, gentle, or rude. Videotaped tasks were subsequently analyzed to study kinematic parameters characterizing VFs. Our results highlighted three main findings: (1) overall, ASC children are able to tune the motor profile of their actions, effectively conveying both gentle and rude VFs; (2) distinct kinematic parameters in the execution of VFs are able to distinguish autistic children from NT children; (3) the social context significantly influences the child’s ability to express positive and negative VFs in autism. Taken together, these findings provide new insights to understand how VFs contribute to the complex dynamics of social communication in neurodivergent autistic children, providing a valuable contribution for future interventions and support strategies.

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9. Ferreira JP, Campos MJ, Ataíde S. Effects of a Physical Exercise Program on Young People and Adults with Autism Spectrum Disorder-A Study Protocol. J Clin Med. 2024; 13(19).

Background/Objectives: Physical exercise (PE) has been shown to have positive effects on the symptoms associated with autism spectrum disorder (ASD). However, there is still no consensus on the most appropriate PE intervention model. With this in mind, we developed a program with the aim of determining the effects of PE on physical fitness, with a view to applying it as a potential treatment. Methods: Using an experimental methodology, this research work will recruit 18 institutionalized young people and adults who will be allocated to one of two groups, namely (i) the youth training group and (ii) the adult training group, using low-cost materials. Both intervention groups will perform 90 min of training per session, twice a week, for 12 weeks. Evaluations will be carried out at baseline and month 3. The impact of the exercise program will be assessed based on the variables of anthropometry, body composition, cardiovascular response, and cardiorespiratory fitness. Results: The results of this study will contribute to the development of more effective strategies, prescription recommendations, and interventions as a guarantee in future programs of better and greater adherence to PE by institutionalized individuals with ASD. Conclusions: In addition, we intend to make the PE program available if it promotes positive effects in the target population.

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10. Gevarter C, Gallegos E. Parent-implemented AAC verb symbol intervention with children with ASD. Augment Altern Commun. 2024: 1-13.

A multiple-probe across participants design was used to examine whether three young children diagnosed with autism spectrum disorder (ASD) could learn to use verb symbols presented on an AAC application to request actions. Using researcher coaching (involving joint planning, descriptive instructions, and guided practice) parents of participants were taught to (a) embed opportunities for children to request actions in daily home routines, (b) model AAC responses, (c) use a prompt hierarchy with a time delay, and (d) contingently reinforce correct aided AAC responses. Following intervention delivered by parents, all three participants increased their use of verb symbols to request actions and parents implemented procedures with high fidelity. There were, however, individualized differences in rate of acquisition, variability of responding, readiness for fading supports, and moving to more advanced skills. One of the three participants was able to master two-step responses involving navigation to a category folder. Generalization of requesting actions to labeling actions was limited.

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11. Girault J. Development of Sensory Regions vs the Rest of the Cortex in Autism. JAMA Psychiatry. 2024.

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12. Han JY, Kim TY, Gwack J, Park J. The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel ARX p.Lys385Ter Variant. Int J Mol Sci. 2024; 25(19).

The ARX mutations encompass a nearly continuous spectrum of neurodevelopmental disorders (NDDs), ranging from lissencephaly to Proud syndrome, as well as infantile spasms without brain malformations, and including both syndromic and non-syndromic intellectual disabilities (IDs). We describe worsening neuropsychiatric symptoms in the offspring of a Korean family with ID/developmental delay (DD) caused by a novel ARX p.Lys385Ter variant. Sequential genetic testing was performed to investigate the ID, DD, agenesis of the corpus callosum (ACC), and developmental epileptic encephalopathy (DEE) observed in the proband. A comprehensive trio clinical exome sequencing approach using a Celemics G-Mendeliome Clinical Exome Sequencing Panel was employed. Given the clinical manifestations observed in the proband, gene panel sequencing identified a heterozygous ARX variant, c.1153A>T/p.Lys385Ter (Reference transcript ID: NM_139058.3), as the most likely cause of ID, DD, ACC, and DEE in the proband. Sanger sequencing confirmed the segregation of the ARX variant, c.1153A>T/p.Lys385Ter, with the phenotype and established the maternally inherited dominant status of the heterozygous variant in the patient, as well as in her grandmother, mother, and aunt. Our case report adds to the understanding of the female phenotype in ARX-related disorders caused by loss-of-function variants in the ARX gene. Genetic counseling for ARX families should proceed with caution, as female carriers can exhibit a wide range of phenotypes, from normal cognitive development to ID/DD, ACC, and DEE.

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13. Harvey S, Liyanagamage D, Pal T, Klockars A, Levine AS, Olszewski PK. Palatable solution overconsumption in the Cntnap2-/- murine model of autism: a link with oxytocin. Neuroreport. 2024; 35(15): 980-6.

Dysregulated appetite is common in autism spectrum disorder (ASD) and it includes excessive interest in tasty foods. Overconsumption of palatable fluids has been found in the valproic acid-induced ASD rat. Though ASD has a strong genetic component, the link between ASD-related genes and appetite for palatable foods remains elusive. We focused on the CNTNAP2 gene whose deletion in mice recapitulates human ASD symptoms. We investigated whether Cntnap2-/- male mice consume greater amounts of palatable 10% sucrose, 0.1% saccharin, and 4.1% intralipid solutions offered in episodic meals either in a no-choice paradigm or a two-bottle choice test. We examined how sucrose intake affects c-Fos immunoreactivity in feeding-related brain areas. Finally, we determined doses at which intraperitoneal oxytocin decreases sucrose intake in mutants. In the single-bottle tests, Cntnap2-/- mice drank more sucrose, saccharin, and intralipid compared to WTs. Given a choice between two tastants, Cntnap2-/- mice had a higher preference for sucrose than intralipid. While the standard 1 mg/kg oxytocin dose reduced sucrose intake in WTs, a low oxytocin dose (0.1 mg/kg) decreased sucrose intake in Cntnap2-/- mice. Sucrose intake induced a more robust c-Fos response in wild-type (WT) than Cntnap2-/- mice in the reward and hypothalamic sites and it increased the percentage of Fos-immunoreactivity oxytocin neurons in WTs, but not in mutants. We conclude that Cntnap2-/- mice overconsume palatable solutions, especially sucrose, beyond levels seen in WTs. This excessive consumption is associated with blunted c-Fos immunoreactivity in feeding-related brain sites, and it can be reversed by low-dose oxytocin.

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14. He Y, Wong A, Zhang Y, Lin J, Li H, Zhao B, Chen T, Huang S, Hu R, Liu G. Effects of Mozart-Orff parent-child music therapy among mothers and their preschool children with autism spectrum disorder: A mixed-methods randomised controlled trial. BMC Pediatr. 2024; 24(1): 665.

BACKGROUND: Autism spectrum disorder (ASD) negatively impacts mental health, particularly in mothers of autistic children who experience heightened stress. Applied behaviour analysis (ABA) and music therapy are recognised interventions for improving ASD symptoms. However, the specific benefits of parent-child music therapy and ABA for autistic children and their mothers remain uncertain. This study evaluated the effects of parent-child music therapy on preschool autistic children and their mothers. METHOD: A randomised controlled trial was conducted with 100 mother-child pairs assigned to either the control group receiving ABA or the intervention group receiving both music therapy and ABA. Qualitative interviews were conducted post-intervention for 12 mothers. RESULTS: Children in the intervention group exhibited lower scores for ASD symptoms than those in the control group. Moreover, mothers in the intervention group demonstrated reduced dysfunctional parent-child interaction, lower overall parental stress, significantly improved family functioning, and increased levels of hope compared with those in the control group. Mothers held positive views regarding music therapy. CONCLUSIONS: Combining ABA with parent-child music therapy can alleviate ASD symptoms in children and reduce stress in mothers. Improved parent-child interaction and enhanced family functioning further support the benefits of this combined approach. Parent-child music therapy, combined with ABA demonstrated positive outcomes for autistic children, including reduced ASD symptoms, improved parent-child interaction, decreased parental stress, enhanced family functioning, and increased hope. These findings highlight the potential of incorporating music therapy as a valuable component in the comprehensive treatment of ASD. TRIAL REGISTRATION: This study was registered in the Chinese Clinical Trial registry (05/07/2021, ChiCTR2100048261, https://www.chictr.org.cn/showproj.html?proj=128957 ). Ethical approval was obtained from the Research Ethics Committee of Fujian Medical University and the study hospital (Fujian Provincial Maternity and Child Health Hospital; 2017 - 105), and informed consent was obtained from all subjects and/or their legal guardian(s).

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15. Jaswa EG, Huddleston HG, Lindquist KJ, Wu AHB, Bishop SL, Kim YS, Kaing A, Prahl M, Gaw SL, Corley J, Hoskin E, Cho YJ, Rogers EE, Cedars MI. In Utero Exposure to Maternal COVID-19 and Offspring Neurodevelopment Through Age 24 Months. JAMA Netw Open. 2024; 7(10): e2439792.

IMPORTANCE: In utero exposure to maternal infections has been associated with abnormal neurodevelopment among offspring. The emergence of a new, now endemic infection (SARS-CoV-2) warrants investigating developmental implications for exposed offspring. OBJECTIVE: To assess whether in utero exposure to maternal COVID-19 is associated with abnormal neurodevelopmental scores among children ages 12, 18, and 24 months. DESIGN, SETTING, AND PARTICIPANTS: Data were ascertained from the ASPIRE (Assessing the Safety of Pregnancy in the Coronavirus Pandemic) trial, a prospective cohort of pregnant individuals aged 18 years or older who were enrolled before 10 weeks’ gestation and their children. Individuals were recruited online from May 14, 2020, to August 23, 2021, using the Society for Assisted Reproductive Technology and BabyCenter, an online media platform. Participants from all 50 states and Puerto Rico completed activities remotely. EXPOSURE: In utero exposure to COVID-19. MAIN OUTCOMES AND MEASURES: Birth mothers completed the Ages & Stages Questionnaires, Third Edition, a validated screening tool for developmental delays, at 12, 18, and 24 months’ post partum. A score below the cutoff in any domain (communication, gross motor, fine motor, problem-solving, and social skills) was considered an abnormal developmental screen (scores range from 0 to 60 in each domain, with higher scores indicating less risk for neurodevelopmental delay). RESULTS: The cohort included 2003 pregnant individuals (mean [SD] age, 33.3 [4.2] years) enrolled before 10 weeks’ gestation and who completed study activities; 1750 (87.4%) had earned a college degree. Neurodevelopmental outcomes were available for 1757 children at age 12 months, 1522 at age 18 months, and 1523 at age 24 months. The prevalence of abnormal screens for exposed vs unexposed offspring at age 12 months was 64 of 198 (32.3%) vs 458 of 1559 (29.4%); at age 18 months, 36 of 161 (22.4%) vs 279 of 1361 (20.5%); and at age 24 months, 29 of 151 (19.2%) vs 230 of 1372 (16.8%). In an adjusted mixed-effects logistics regression model, no difference in risk of abnormal neurodevelopmental screens was observed at age 12 months (adjusted risk ratio [ARR], 1.07 [95% CI, 0.85-1.34]), age 18 months (ARR, 1.15 [95% CI, 0.84-1.57]), or age 24 months (ARR, 1.01 [95% CI, 0.69-1.48]). Supplemental analyses did not identify differential risk based on trimester of infection, presence vs absence of fever, or breakthrough infection following vaccination vs primary infection. CONCLUSIONS AND RELEVANCE: In this cohort study of pregnant individuals and offspring, exposure to maternal COVID-19 was not associated with abnormal neurodevelopmental screening results through 24 months’ post partum. Continued study of diverse groups of children is needed because, among other factors, evidence suggests sensitivity of the developing fetal brain to maternal immune activation.

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16. Kikuchi K, Honda M, Baba Y, Kita Y, Higuchi T. Difficulties in perceptual-motor coordination of reaching behavior in children with autism spectrum disorder. Cortex. 2024; 180: 111-25.

Increased risk of injury from collisions with objects is an important issue in children with autism spectrum disorder (ASD). The purpose of the present study was to examine whether impaired perceptual-motor coordination may underlie the high frequency of collisions. Specifically, we hypothesized that collisions are likely to occur frequently in children with ASD due to their difficulty with body-related spatial perception and their inadequate motor planning, due to their detail-focused processing style, i.e., a tendency to focus attention on specific details rather than on the overall context. To evaluate impairment of perceptual-motor coordination in children with ASD, an original action selection task was developed to assess (a) body-related spatial perception and (b) predictive attentional properties for planning the subsequent movements based on the measures of hand movement and gaze behavior. Twenty-six children (13 diagnosed as ASD and 13 with typical development [TD]) completed the task, and their parents completed a questionnaire regarding their child’s susceptibility to injury. Results showed that children with ASD displayed inaccurate body-related spatial perception and inadequate motor planning under conditions that induced their detail-focused processing style. In addition, analyses of gaze behavior reflected the characteristics of a detail-focused processing in children with ASD. This was correlated with the severity of ASD and the measure of motor planning. The present findings suggest that difficulty with perceptual-motor coordination, resulting in part from the detail-focused processing style, might contribute to susceptibility to injury in children with ASD. We consider that our evaluation of the difficulty with perceptual-motor of individuals with ASD provides a framework for understanding their high rate of collision-related injuries and could inform strategies for preventing these injuries.

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17. Klein ME, Bangerter A, Halter RJ, Cooper K, Aguilar Z, Canuso CM, Drevets WC, Schmidt ME, Pandina G. Efficacy and safety of JNJ-42165279, a fatty acid amide hydrolase inhibitor, in adolescents and adults with autism spectrum disorder: a randomized, phase 2, placebo-controlled study. Neuropsychopharmacology. 2024.

JNJ-42165279, a highly selective and orally bioavailable fatty acid amide (FAA) hydrolase inhibitor, was evaluated for efficacy and safety in adolescents and adults with autism spectrum disorder (ASD) in this phase 2, double-blind, placebo-controlled, multicenter study (NCT03664232). Participants aged 13-35 years, with a diagnosis of ASD (Diagnostic and Statistical Manual of Mental Disorders, 5th edition; Autism Diagnostic Observation Schedule, 2nd edition) were randomized (1:1) to 12 weeks of treatment with JNJ-42165279 (25 mg, twice-daily) or placebo. Primary endpoints were the change in the Autism Behavior Inventory (ABI) Core Domain (ABI-CD), ABI-Social Communication (ABI-SC), and ABI-Repetitive/Restrictive Behavior (ABI-RB) scores from baseline to day 85. Of the 61 participants (16 female, 45 male) included in the efficacy analyses, 53 (87%) completed the double-blind treatment. At day 85, the JNJ-42165279 group did not show a statistically significant reduction in ASD symptoms versus placebo, as assessed with ABI-CD (p = 0.284), ABI-SC (p = 0.290), and ABI-RB (p = 0.231). However, the following secondary outcomes exhibited small to moderate changes directionally favoring JNJ-42165279: Social Responsiveness Scale 2 (SRS, p = 0.064), Repetitive Behavior Scale-Revised (RBS-R, p = 0.006), Zarit Burden Interview short version (ZBI, p = 0.063), Child Adolescent Symptom Inventory-Anxiety (CASI-Anx, p = 0.048), and Caregiver Global Impression of Severity (p = 0.075). Notably, versus placebo, JNJ-42165279-treated participants showed increased concentrations of FAAs throughout the treatment period, with those achieving elevated concentrations experiencing the greatest reduction in the SRS total score at day 85. JNJ-42165279 demonstrated an acceptable safety profile. Although primary endpoints were not met, JNJ-42165279 may have a therapeutic effect on certain aspects of core ASD symptoms.

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18. Longhurst P, Nimbley E, Evans EH, MacLennan K, Gillespie-Smith K, Duffy F. Measuring eating disorders in Autistic people: a proposal for future research. Eat Disord. 2024: 1-10.

While diagnostic pathways for identifying Autism in eating disorder (ED) populations have been developed, the field continues to lack validated psychometric tools to measure EDs for use in the Autistic population. Many commonly used measures for EDs potentially lack validity and reliability in the Autistic population limiting theoretical and practical advancements in the field. This paper outlines current conflicts in autism and ED research and how these can be addressed through psychometric methodology. We discuss: (1) the lack of differentiation between ED pathology and Autistic eating behaviours, as well as the limited inclusion of autism-specific mechanisms in existing tools; (2) the subsequent theoretical and practical implications for researchers, clinicians, and Autistic people; and (3) future directions for psychometric research. Scholars are encouraged to employ participatory designs with autistic people before carefully considering which analytical strategies are used in the Autistic population.

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19. Lorah ER, MacNeil S, Zimmerman T, Rackensperger T, Holyfield C, Caldwell N, Dragut EC, Vucetic S. Spurring Innovation in AAC Technology through Collaborative Dreaming and Needs Finding with Individuals with Developmental Disabilities Who Use AAC. Semin Speech Lang. 2024.

Millions of individuals who have limited or no functional speech use augmentative and alternative communication (AAC) technology to participate in daily life and exercise the human right to communication. While advances in AAC technology lag significantly behind those in other technology sectors, mainstream technology innovations such as artificial intelligence (AI) present potential for the future of AAC. However, a new future of AAC will only be as effective as it is responsive to the needs and dreams of the people who rely upon it every day. AAC innovation must reflect an iterative, collaborative process with AAC users. To do this, we worked collaboratively with AAC users to complete participatory qualitative research about AAC innovation through AI. We interviewed 13 AAC users regarding (1) their current AAC engagement; (2) the barriers they experience in using AAC; (3) their dreams regarding future AAC development; and (4) reflections on potential AAC innovations. To analyze these data, a rapid research evaluation and appraisal was used. Within this article, the themes that emerged during interviews and their implications for future AAC development will be discussed. Strengths, barriers, and considerations for participatory design will also be described.

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20. Mathews L, Schafer EC, Gopal KV, Lam B, Miller S. Speech-in-Noise and Dichotic Auditory Training Students With Autism Spectrum Disorder. Lang Speech Hear Serv Sch. 2024; 55(4): 1054-67.

PURPOSE: Individuals diagnosed with autism spectrum disorder (ASD) often exhibit auditory processing issues, including poor speech recognition in background noise and dichotic processing (integration of different stimuli presented to the two ears). Auditory training could mitigate these auditory difficulties. However, few auditory training programs have been designed to target specific listening deficits for students with ASD. The present study summarizes the development of an innovative, one-on-one, clinician-developed speech-in-noise (SIN) training program that has not been previously described and an existing dichotic auditory training program to address common auditory processing deficits in students with ASD. METHOD: Twenty verbal students with ASD, ages 7-17 years, completed a one-on-one, clinician-developed SIN training program and a commercially available dichotic training program 2-3 times a week (30-45 min per session) for 12 weeks. Maximum and minimum training levels from the SIN and dichotic training programs were analyzed statistically to document changes in training level over the training period. RESULTS: Analyses of the pre- and posttraining data revealed significant improvements in training level for both the SIN and dichotic training programs. CONCLUSIONS: Overall, the proposed SIN training resulted in significant improvements in training level and may be used along with dichotic training to improve some of the most common auditory processing issues documented in verbal individuals with ASD requiring minimal support. Both types of auditory training may be implemented in one-on-one therapy in clinics and in the schools.

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21. Morrison C, Cashin A, Foley KR. Daily living skill support for autistic people through a neurodiversity-affirming practice lens. Aust Occup Ther J. 2024.

INTRODUCTION: Supporting daily living skill (DLS) development for autistic people is a component of occupational therapy practice. DLSs are essential for an increased quality of life (QoL), independent living, and community participation. Autistic young people experience poorer outcomes in terms of QoL and independent living than non-autistic peers. Finding a balance between targeted DLS support to maximise independent living and improve QoL, while avoiding attempts to ‘normalise’ or ‘change’ autistic people, presents as a dilemma for therapists striving to align with neurodiversity-affirming practice. METHODS: This theoretical paper explored literature pertaining to DLS and the neurodiversity movement in the context of occupational therapy values and the Canadian Model of Occupational Participation. Consideration of whether targeted DLS support is neurodiversity-affirming or whether occupational therapists are compelling autistic people to mimic behavioural norms perceived by society was discussed. RESULTS: DLSs are an important factor for maximising QoL, regardless of neurotype. Occupational therapy values align with the core tenets of the neurodiversity movement, and occupational therapists are equipped with the values and skills to support the development of DLSs utilising affirming practice. CONCLUSION: Occupational therapists should critically reflect on their practice to ensure alignment with the professions core values and recent occupational therapy models, to ensure affirming practice. Further research investigating DLS and neurodiversity-affirming practice would benefit occupational therapists striving to align with neurodiversity-affirming practice. CONSUMER AND COMMUNITY INVOLVEMENT: No consumer or community involvement. Consumers have been considered throughout the development of this paper through their representation in the literature. This involved a process of reviewing the literature and considering it in the scope of the questions and how occupational therapy sits within the neurodiversity movement. PLAIN LANGUAGE SUMMARY: It is important to help autistic people to learn to do everyday things. Everyday things include activities like showering, cleaning, and cooking. These things are important so that autistic people can live on their own. It has shown that autistic young people are less likely to be able to do everyday activities on their own. It is important that therapists help autistic people learn how to do everyday things; however, do not try and change who they are. This is because completing everyday activities is an important part of QoL for all people.

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22. Nguyen XP, Vilkaite A, Bender U, Dietrich JE, Hinderhofer K, Strowitzki T, Rehnitz J. Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1/Fragile X Mental Retardation Protein in Human Granulosa Cells in the Context of Poor Ovarian Response. Int J Mol Sci. 2024; 25(19).

Fragile X mental retardation protein (FMRP) is a translational repressor encoded by FMR1. It targets bone morphogenetic protein receptor type II (BMPR2), which regulates granulosa cell (GC) function and follicle development. However, whether this interaction affects folliculogenesis remains unclear. Therefore, this study investigated the potential effect of FMRP-BMPR2 dysregulation in ovarian reserves and infertility. COV434 cells and patient-derived GCs were used to evaluate FMRP and BMPR2 expression. Similarly, FMR1, BMPR2, LIMK1, and SMAD expression were evaluated in GCs with normal (NOR) and poor (POR) ovarian responses. FMRP and BMPR2 were expressed in both cell types. They were co-localized to the nuclear membrane of COV434 cells and cytoplasm of primary GCs. FMR1 silencing increased the mRNA and protein levels of BMPR2. However, the mRNA levels of FMR1 and BMPR2 were significantly lower in the POR group. FMR1 and BMPR2 levels were strongly positively correlated in the NOR group but weakly correlated in the POR group. Additionally, SMAD9 expression was significantly reduced in the POR group. This study highlights the crucial role of FMR1/FMRP in the regulation of BMPR2 expression and its impact on ovarian function. These findings indicate that the disruption of FMRP-BMPR2 interactions may cause poor ovarian responses and infertility.

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23. Ornoy A, Echefu B, Becker M. Animal Models of Autistic-like Behavior in Rodents: A Scoping Review and Call for a Comprehensive Scoring System. Int J Mol Sci. 2024; 25(19).

Appropriate animal models of human diseases are a cornerstone in the advancement of science and medicine. To create animal models of neuropsychiatric and neurobehavioral diseases such as autism spectrum disorder (ASD) necessitates the development of sufficient neurobehavioral measuring tools to translate human behavior to expected measurable behavioral features in animals. If possible, the severity of the symptoms should also be assessed. Indeed, at least in rodents, adequate neurobehavioral and neurological tests have been developed. Since ASD is characterized by a number of specific behavioral trends with significant severity, animal models of autistic-like behavior have to demonstrate the specific characteristic features, namely impaired social interactions, communication deficits, and restricted, repetitive behavioral patterns, with association to several additional impairments such as somatosensory, motor, and memory impairments. Thus, an appropriate model must show behavioral impairment of a minimal number of neurobehavioral characteristics using an adequate number of behavioral tests. The proper animal models enable the study of ASD-like-behavior from the etiologic, pathogenetic, and therapeutic aspects. From the etiologic aspects, models have been developed by the use of immunogenic substances like polyinosinic-polycytidylic acid (PolyIC), lipopolysaccharide (LPS), and propionic acid, or other well-documented immunogens or pathogens, like Mycobacterium tuberculosis. Another approach is the use of chemicals like valproic acid, polychlorinated biphenyls (PCBs), organophosphate pesticides like chlorpyrifos (CPF), and others. These substances were administered either prenatally, generally after the period of major organogenesis, or, especially in rodents, during early postnatal life. In addition, using modern genetic manipulation methods, genetic models have been created of almost all human genetic diseases that are manifested by autistic-like behavior (i.e., fragile X, Rett syndrome, SHANK gene mutation, neuroligin genes, and others). Ideally, we should not only evaluate the different behavioral modes affected by the ASD-like behavior, but also assess the severity of the behavioral deviations by an appropriate scoring system, as applied to humans. We therefore propose a scoring system for improved assessment of ASD-like behavior in animal models.

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24. Paixão I, Forno LFD, de Oliveira LP, Garcia LF. Qualitative analysis of Portuguese-language YouTube videos about autism spectrum disorders. Disabil Health J. 2024: 101719.

BACKGROUND: In the digital age, social media platforms such as YouTube have become significant channels for disseminating health information, including content related to autism spectrum disorder (ASD). The quality and reliability of this information, especially when produced by healthcare professionals, are crucial for public health education and promotion. This study aims the content of Portuguese-language videos about the treatment of ASD on YouTube, produced by healthcare providers from 2019 to 2023, assessing their quality and alignment with evidence-based practices. METHODS: A qualitative exploratory descriptive approach was used, with content analysis based on Bardin’s method. A total of 41 videos were selected using keywords related to ASD. Transcriptions were analyzed for discussions on treatment approaches, best practices, and professional recommendations according to DSM-V and ICD-10 guidelines. The quality of information was assessed using the DISCERN questionnaire. RESULTS: The analysis revealed significant variability in the quality of the information. Videos were categorized into four quality groups based on DISCERN scores: good (n = 6), moderate (n = 11), poor (n = 20), and very poor (n = 4). Good quality videos had the highest engagement metrics and overall quality scores. Common themes identified included defining and understanding ASD, ABA interventions and strategies, family and social impact, skills development, and challenges and solutions. CONCLUSION: While some videos provided accurate, evidence-based information, a substantial portion did not meet minimum quality criteria. This highlights the need for improved mechanisms to ensure the dissemination of reliable health information on social media platforms.

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25. Park SW, Cardinaux A, Crozier D, Russo M, Bond S, Kjelgaard M, Sinha P, Sternad D. Interceptive abilities in autism spectrum disorder: Comparing naturalistic and virtual visuomotor tasks. Autism Res. 2024.

A growing body of research reveals that autistic individuals exhibit motor coordination challenges. Multiple theoretical frameworks propose that the seemingly disparate features of autism may arise from a common underlying process: a diminished ability to make predictions. Sensorimotor skills, such as catching a ball, critically rely on predicting the ball’s trajectory as well as anticipatory coordination of the entire body. Here, we assessed four different naturalistic and virtual interception tasks with 31 neurotypical and 23 autistic children (ages 7-12). In a naturalistic setting, participants caught the ball either with their hands or a hand-held funnel with an enlarged catch area that also prevented the ball from bouncing off. A virtual setup reduced whole-body demands, as children only moved a paddle to catch or bounce a ball on a screen. Control tasks, involving rapid reaching to grasp a static object and quiet standing, which largely eliminated the requirements for prediction, were also tested. Results from all task variations demonstrated that autistic children completed fewer successful interceptions, suggesting that predictive requirements, inherent to all interception tasks, played a critical role. Effect sizes in the virtual tasks were smaller. Correlations of the task metrics with behavioral assessments rendered the strongest correlations with Praxis scores. The control tasks showed no differences between autistic and neurotypical children. These findings lend support to the emerging hypothesis that predictive challenges are present in autism. Further research with larger sample sizes will help identify to what extent these visuomotor differences may inform core domains of autism.

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26. Pereira T, Ramalho AM, P SC, Lousada M. Exploring the effectiveness of the Pragmatic Intervention Programme (PICP) with children with autism spectrum disorder and developmental language disorder: A non-randomised controlled trial. Autism. 2024: 13623613241287017.

Children diagnosed with autism spectrum disorder (ASD) and developmental language disorder (DLD) often have difficulties using language in social contexts. An intervention programme for preschool-age children with pragmatic difficulties, called Pragmatic Intervention Programme (PICP), showed positive effects for these children. However, it was important to confirm these effects with a larger group and analyse them separately for each condition. In this study, the effectiveness of the PICP was analysed in preschool-age children with ASD or DLD with difficulties in using language in social contexts. The study was carried out with 36 children. Twenty-two were allocated to an experimental group to receive the PICP-based intervention first, and 14 children were assigned to a control group (waiting list). Each child attended 24 PICP-based intervention sessions provided by a speech and language therapist. Progress was measured using a Goal Attainment Scale (GAS) and other language assessment instruments. The results showed that all children in the experimental group made significant progress in their language competencies, compared to the control group after the intervention. This study confirms that the PICP is effective in improving language competencies in preschool-age children with ASD and DLD with difficulties in using language for social purposes, regardless of their condition. These results emphasise the importance of tailored interventions for these children and point to areas for further research.

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27. Peterson T, Dodson J, Burgin S, Sherwin R, Strale F, Jr. Impacts of Hyperbaric Oxygen Therapy (HBOT) on Verbal Scores in Children With Autism: A Secondary Analysis of the HBOT Trial Using Multivariate Analysis of Variance (MANOVA). Cureus. 2024; 16(9): e69421.

Introduction A secondary analysis employing advanced statistical methodologies constitutes a robust means of validating initial findings in systematic empiricism. The current research will undertake a secondary analysis of the impacts of Hyperbaric Oxygen Therapy (HBOT) on verbal behaviors in children with autism using the original dataset. This approach aims to enhance the robustness of the initial results, thereby providing a deeper understanding of the data and potentially uncovering additional insights. Materials and methods From January 2018 to July 2021, all cohorts of autistic children (n = 65) were scheduled, evaluated, and treated at The Oxford Center (TOC) in Brighton and Troy, Michigan, USA. Trained research assistants retrospectively extracted pretest and posttest data from electronic medical records from the Verbal Behavior Milestones Assessment and Placement Program (VB-MAPP) and the Assessment of Basic Language and Learning Skills (ABLLS). This data collection focused on children with autism who received either non-HBOT control with Applied Behavior Analysis (ABA) treatment only or ABA + HBOT interventions. For the VB-MAPP, the experimental group (ABA + HBOT) included 23 children, while the control group (ABA only) included 12 children. For the ABLLS, the experimental group (ABA + HBOT) consisted of nine children, compared to 21 children in the control group (ABA only). Demographic information was systematically summarized. Two independent sample t-tests were recomputed from the original study. Multivariate Analysis of Variance (MANOVA) were conducted, followed by one-way Analyses of Variance (ANOVA) post hoc analyses to elucidate the findings. Results The ages in both groups ranged from 2 to 17 years (M = 5.7 years ± 3.08), with median ages of four years for the experimental group and five years for the control group. The p-values and effect sizes indicated that the two independent sample t-tests from the original study and the MANOVAs from the current research are in agreement. This concordance provided confirmatory evidence for the validity of the pretest and posttest differences in VB-MAPP and ABLLS scores for the control group (ABA only) and the experimental group (ABA + HBOT), highlighting the impact of HBOT on verbal scores in children with autism. Conclusions The results from the two independent sample t-tests from the initial study exhibited high alignment with those derived from the current study’s MANOVAs. Both statistical methodologies were applied to the same VB-MAPP and ABLLS datasets. The convergence of results from these two distinct statistical analyses may reinforce the credibility of the original research findings. It supports the hypothesis that the combined ABA and HBOT intervention may offer additional benefits over ABA therapy alone, with verbal milestone behaviors in children with autism.

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28. Preciado C, Baida M, Li Y, Li Y, Demopoulos C. Prenatal exposure to hypoxic risk conditions in autistic and neurotypical youth: Associated ventricular differences, sleep disturbance, and sensory processing. Autism Res. 2024.

There is a growing body of research that suggests conditions during the period of pregnancy and birth can affect how autism spectrum disorder (ASD) presents itself. This study aimed to investigate the incidence of oxygen deprivation during this period known as prenatal and perinatal hypoxic risk (HR) conditions in ASD compared with neurotypical control (NTC) youth. We also examined ventricular morphology variations associated with HR exposure, and to evaluate associations with clinical symptoms. Results from a cohort of 104 youth revealed a higher incidence of exposure to prenatal hypoxic conditions in the ASD group. Additionally, ASD individuals with prenatal hypoxic exposure (ASD + HR) demonstrated larger third ventricle volumes compared with both ASD and NTC individuals without such exposure (ASD-HR and NTC-HR, respectively). Furthermore, associations were identified between prenatal hypoxic exposure, third ventricle volume, sensory dysfunction, and severity of sleep disturbances. These findings suggest exposure to prenatal hypoxic risk conditions may exacerbate or modify the neurodevelopmental trajectory and symptom severity in ASD, emphasizing the need for better prenatal care and specific interventions to reduce these risks.

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29. Pretzsch CM, Arenella M, Lerch JP, Lombardo MV, Beckmann C, Schaefer T, Leyhausen J, Gurr C, Bletsch A, Berg LM, Seelemeyer H, Floris DL, Oakley B, Loth E, Bourgeron T, Charman T, Buitelaar J, McAlonan G, Murphy D, Ecker C. Patterns of Brain Maturation in Autism and Their Molecular Associations. JAMA Psychiatry. 2024.

IMPORTANCE: In the neurotypical brain, regions develop in coordinated patterns, providing a fundamental scaffold for brain function and behavior. Whether altered patterns contribute to clinical profiles in neurodevelopmental conditions, including autism, remains unclear. OBJECTIVES: To examine if, in autism, brain regions develop differently in relation to each other and how these differences are associated with molecular/genomic mechanisms and symptomatology. DESIGN, SETTING, AND PARTICIPANTS: This study was an analysis of one the largest deep-phenotyped, case-control, longitudinal (2 assessments separated by approximately 12-24 months) structural magnetic resonance imaging and cognitive-behavioral autism datasets (EU-AIMS Longitudinal European Autism Project [LEAP]; study dates, February 2014-November 2017) and an out-of-sample validation in the Brain Development Imaging Study (BrainMapASD) independent cohort. Analyses were performed during the 2022 to 2023 period. This multicenter study included autistic and neurotypical children, adolescents, and adults. Autistic participants were included if they had an existing autism diagnosis (DSM-IV/International Statistical Classification of Diseases and Related Health Problems, Tenth Revision or DSM-5 criteria). Autistic participants with co-occurring psychiatric conditions (except psychosis/bipolar disorder) and those taking regular medications were included. EXPOSURES: Neuroanatomy of neurotypical and autistic participants. MAIN OUTCOMES AND MEASURES: Intraindividual changes in surface area and cortical thickness over time, analyzed via surface-based morphometrics. RESULTS: A total of 386 individuals in the LEAP cohort (6-31 years at first visit; 214 autistic individuals, mean [SD] age, 17.3 [5.4] years; 154 male [72.0%] and 172 neurotypical individuals, mean [SD] age, 16.35 [5.7] years; 108 male [62.8%]) and 146 individuals in the BrainMapASD cohort (11-18 years at first visit; 49 autistic individuals, mean [SD] age, 14.31 [2.4] years; 42 male [85.7%] and 97 neurotypical individuals, mean [SD] age, 14.10 [2.5] years; 58 male [59.8%]). Maturational between-group differences in cortical thickness and surface area were established that were mostly driven by sensorimotor regions (eg, across features, absolute loadings for early visual cortex ranged from 0.07 to 0.11, whereas absolute loadings for dorsolateral prefrontal cortex ranged from 0.005 to 0.06). Neurodevelopmental differences were transcriptomically enriched for genes expressed in several cell types and during various neurodevelopmental stages, and autism candidate genes (eg, downregulated genes in autism, including those regulating synaptic transmission; enrichment odds ratio =3.7; P =2.6 × -10). A more neurotypical, less autismlike maturational profile was associated with fewer social difficulties and more typical sensory processing (false discovery rate P <.05; Pearson r ≥0.17). Results were replicated in the independently collected BrainMapASD cohort. CONCLUSIONS AND RELEVANCE: Results of this case-control study suggest that the coordinated development of brain regions was altered in autism, involved a complex interplay of temporally sensitive molecular mechanisms, and may be associated with both lower-order (eg, sensory) and higher-order (eg, social) clinical features of autism. Thus, examining maturational patterns may provide an analytic framework to study the neurobiological origins of clinical profiles in neurodevelopmental/mental health conditions.

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30. Richardson AA, Zampella CJ, Bennetto L. « Look Who’s Talking »: Language Patterns in Autistic and Non-Autistic Youth Across Different Conversation Partners. J Autism Dev Disord. 2024.

Autistic individuals have varying levels of verbal fluency which can impact social outcomes. Although 70-75% of autistic individuals have functional language, findings regarding language patterns (syntax and semantics) in autistic adolescents remain inconclusive. Additionally, previous studies of language complexity use narrative samples, which do not capture autistic language in conversation. The current study examined language patterns in autistic (n = 20) and non-autistic (n = 17) youth aged 9-16 years during a conversation with a familiar versus unfamiliar adult. The study aimed to address gaps in the literature regarding autistic youth’s language patterns, particularly in conversation, and the impact of speaking partners. Recordings of the conversation task were transcribed using SALT software conventions to yield measures of language production. Average length of communication units was higher among autistic compared to non-autistic youth, and among all youth when talking with familiar compared to unfamiliar partners. Youth speech also reflected greater linguistic diversity with familiar interlocutors, with no differences between autistic and non-autistic youth. Additionally, familiar interlocutors used more speech elicitation strategies (i.e., questions, prompts) than unfamiliar interlocutors across groups and interlocutors speaking with autistic youth used more speech elicitation strategies. These findings identify important similarities and differences between autistic and non-autistic youth and interlocutor speech that provide a better understanding of language patterns in autism. Importantly, this study can increase understanding and enhance support of autistic youth by highlighting that some aspects of autistic youth’s language patterns in the context of conversation may be currently underestimated.

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31. Roux AM, Chvasta K, McLean KJ, Carey M, Perez Liz G, Tomczuk L, Lopez K, Assing-Murray E, Shattuck PT, Shea LL. Challenges and Opportunities in Transitioning Autistic Individuals Into Adulthood. Pediatrics. 2024.

BACKGROUND AND OBJECTIVES: Approximately 1.2 million autistic youth will reach the legal age of adulthood over the next decade. Given dynamic changes in the socioecological context of the transition to adulthood, we produced an updated transitions research agenda reflecting the perspectives of autistic young adults, care partners (parents), and professionals who use autism research. METHODS: We conducted 9 focus groups: 4 young adult, 4 care partner, and 1 professional, with 59 total participants. Young adults were grouped by self-reported identity: (1) racial and ethnic minority, (2) lesbian, gay, bisexual, transgender, queer, intersex, asexual, and other identities, and (3) nonspeaking, in addition to a general group. We selected care partners who supported youth with varying intensity of support needs. We used rapid qualitative inquiry methods to extract key points from answers to semistructured interview questions. RESULTS: Delays in diagnosis and transition processes, and placement on wait lists resulted in significant obstacles to successful transitions. Parents assumed a dominant role by coordinating services, navigating systems and identifying opportunities for community participation, and providing direct supports. There was an overarching need for inclusion of autistic people in transitions research and consideration of cultural differences in priorities and values. Participants prioritized investigation of variation in transitions among autistic youth with intersecting identities, navigation support (eg, peer mentors), efficacy of services and supports (eg, transition and employment services), differences in available services by location, and problems within specific benefits programs. CONCLUSIONS: Research should focus on understanding population-level factors of system performance on outcomes and support needs, service delivery among marginalized groups, and transformation of complex service ecosystems.

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32. Schaffer LS, Breunig S, Lawrence JM, Foote IF, Grotzinger AD. Characterizing genetic pathways unique to autism spectrum disorder at multiple levels of biological analysis. Mol Autism. 2024; 15(1): 46.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by atypical patterns of social functioning and repetitive/restricted behaviors. ASD commonly co-occurs with ADHD and, despite their clinical distinctiveness, the two share considerable genetic overlap. Given their shared genetic liability, it is unclear which genetic pathways increase the likelihood of ASD independently of ADHD. METHODS: We applied Genomic Structural Equation Modeling (SEM) to GWAS summary statistics for ASD and childhood-diagnosed ADHD, decomposing the genetic variance for ASD into that which is unique to ASD (uASD) and that which is shared with ADHD. We computed genetic correlations between uASD and 83 external traits to estimate genetic overlap between uASD and other clinically relevant phenotypes. We went on to apply Stratified Genomic SEM to identify classes of genes enriched for uASD. Finally, we implemented Transcriptome-Wide SEM (T-SEM) to explore patterns of gene-expression associated with uASD. RESULTS: We observed positive genetic correlations between uASD and several external traits, most notably those relating to cognitive/educational outcomes and internalizing psychiatric traits. Stratified Genomic SEM showed that heritability for uASD was significantly enriched in genes involved in evolutionarily conserved processes, as well as for a histone mark in the germinal matrix. T-SEM revealed 83 unique genes with expression associated with uASD, 34 of which were novel with respect to univariate analyses. These genes were overrepresented in skin-related pathologies. LIMITATIONS: Our study was limited by summary statistics derived exclusively from individuals of European ancestry. Additionally, using data based on a general ASD diagnosis limits our ability to understand genetic factors contributing to the pronounced clinical heterogeneity in ASD. CONCLUSIONS: Our findings delineate the unique genetic underpinnings of ASD that are independent of ADHD at the genome-wide, functional, and gene expression level of analysis. In addition, we identify novel associations previously masked by their diametric effects on ADHD. Collectively, these results provide insight into the processes that make ASD biologically unique.

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33. Skalski M, Kornasiewicz O, Raszeja-Wyszomirska J, Konieczka A, Mlynarczyk M, Grat M. The Outcomes of Liver Transplantation in Highly Dependent Incapacitated Patients with Intellectual and Developmental Disabilities. J Clin Med. 2024; 13(19).

Background/Objectives: Data regarding the outcomes of liver transplantation in disabled, highly dependent, and legally incapacitated adults are scarce, likely due to the infrequency of these procedures in such populations. Multicenter studies in adult transplant centers have shown that patients with coexisting intellectual and developmental disabilities (IDDs) may be denied transplantation because of their expected low longevity and the complexities associated with managing post-transplant care. We examined the long-term patient and graft outcomes in highly dependent, incapacitated patients with IDDs who underwent elective transplantation for chronic liver disease. Methods: Six adult patients who underwent liver transplantation for primary biliary cholangitis (n = 2), hepatitis C cirrhosis (n = 2), Wilson’s disease (n = 1), and autoimmune hepatitis (n = 1) were included. The main causes of their disability were infantile cerebral palsy, myotonia, and Niemann-Pick disease. Results: Four of the six patients were women, with a median age of 26 (range: 23-36) years. Only one patient died during follow-up. Their 1- and 5-year survival rates were 100 and 75%, respectively, which were not statistically different from those of the general cohort of electively transplanted patients (95.8 and 90.1%, respectively) (p = 0.35). Conclusions: Adult patients who are highly dependent, disabled, or legally incapable should not be denied liver transplantation because of poor long-term survival rates. Physiological disorders and psychiatric comorbidities should not prevent patients from receiving life-saving surgeries due to poor postoperative compliance or low quality of life.

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34. Slevin H, Kehinde F, Begum-Ali J, Ellis C, Burkitt-Wright E, Green J, Johnson MH, Pasco G, Charman T, Jones EJH, Garg S. Developmental trajectories in infants and pre-school children with Neurofibromatosis 1. Mol Autism. 2024; 15(1): 45.

BACKGROUND: Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with NF1 compared with typically developing (TD) children without a family history of neurodevelopmental conditions. METHODS: Data from standardised tests was gathered at 5, 10, 14, 24 and 36 months of age (NF1 n = 35, TD n = 29). Developmental trajectories of cognitive (Mullen Scales of Early Learning, MSEL) and adaptive behavioural (Vineland Adaptive Behavior Scales, VABS) development from 5 to 36 months were analysed using linear mixed modelling. Measures of ADHD (Child Behavior Checklist) and autism traits (ADOS-2, BOSA-MV and ADI-R) were assessed at 24 and 36 months. RESULTS: The developmental trajectory of cognitive skills (all domains of the MSEL) and behavioural skills (four domains of the VABS) differed significantly between NF1 and TD groups. Post-hoc tests demonstrated that the NF1 participants scored significantly lower than TD participants at 24 months on all MSEL and VABS domains. The NF1 cohort demonstrated higher mean autism and ADHD traits at 24 months and 14% of the NF1 cohort met a research diagnostic classification for autism at 36 months. LIMITATIONS: The study has a relatively small sample size due to variable retention and rolling recruitment. Due to limitations imposed by the COVID-19 pandemic, we utilised the Brief Observation of Symptoms of Autism for Minimally Verbal children (BOSA-MV) for some participants, which was administered online and may not gather as accurate a picture of traits as ADOS-2. The BOSA-MV was utilised for 41% of participants with NF1 at 36 months compared to 11% at 24 months. This may explain the reduction in the percentage of children with NF1 that met autism criteria at 36 months. CONCLUSIONS: By 24 months of age, the NF1 cohort show lower cognitive skills and adaptive behaviour and higher levels of autism and ADHD traits as compared to TD children. This has implications for developmental monitoring and referral for early interventions. TRIAL REGISTRATION: Not applicable.

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35. Somaraki M, de Lauzon-Guillain B, Camier A, Bernard JY, Tafflet M, Dufourg MN, Charles MA, Chabanet C, Tournier C, Nicklaus S. Timing of food pieces introduction and neurodevelopment: findings from a nationwide birth cohort. Int J Behav Nutr Phys Act. 2024; 21(1): 118.

BACKGROUND: While complementary feeding can be challenging, little emphasis has been placed on the introduction to food texture/pieces, especially in terms of neurodevelopmental outcomes. This study aims to determine the association between the timing of introduction to food pieces during infancy and neurodevelopment in early childhood. We hypothesized that late introduction to food texture/pieces relates to unfavorable neurodevelopmental outcomes. METHODS: Families (n = 18329) were recruited from the general population during the nationwide ELFE (Étude Longitudinale Française depuis l’Enfance) birth cohort in France, and 8511 were selected for a complete case analysis. Age at introduction to food pieces was determined based on repeated assessments during the first year. A range of neurodevelopmental outcomes among children were assessed using validated instruments, i.e. composite scores at 1 and 3.5 years, and a score for language acquisition at 2 years. Risk for developmental delay at 3.5 years was defined based on a developmental quotient (DQ) below 90 according to the child’s chronological age and the respective composite score at this age. We used linear regression modelling to evaluate associations between age at introduction to food pieces and the standardised neurodevelopmental scores, while logistic regression models were used in the analyses according to the risk for developmental delay. RESULTS: Our findings highlight consistent associations between late introduction to food pieces (i.e., after 10 months, compared to early (before 8 months)) and lower estimates of standardised neurodevelopmental scores at ages 1, 2 and 3.5 years (-0.35 [-0.40; -0.30], -0.15 [-0.20; -0.10] and - 0.18 [-0.23; -0.13], respectively). Infants introduced to pieces late were also more likely to be at risk for developmental delay according to DQ < 90 (OR [95%CI] = 1.62 [1.36; 1.94]). CONCLUSIONS: This study shows that late introduction to food pieces (> 10 months) is related to lower neurodevelopmental scores. Given the challenges that complementary feeding may pose, concerted efforts are required to enhance our understanding of the sensory aspects of early diets and to ultimately provide guidance.

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36. Tanaka E, Yamasaki R, Saitoh BY, Abdelhadi A, Nagata S, Yoshidomi S, Inoue Y, Matsumoto K, Kira JI, Isobe N. Postnatal Allergic Inhalation Induces Glial Inflammation in the Olfactory Bulb and Leads to Autism-Like Traits in Mice. Int J Mol Sci. 2024; 25(19).

Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders. To explore its pathophysiology, we investigated the association between neonatal allergic exposure and behavioral changes. Adult female C57BL/6J mice were immunized with adjuvant (aluminum hydroxide) or ovalbumin emulsified with adjuvant. After immunization, the mice were mated, and offspring were born at full term. The postnatal dams and infants were then simultaneously exposed to an allergen (ovalbumin) or vehicle via inhalation. After weaning, behavioral testing and histopathological analyses were conducted on male offspring. Compared with the vehicle-exposed offspring, the ovalbumin-exposed offspring had decreased sociability and increased repetitive behavior, thus representing an ASD-like phenotype in mice. Moreover, histopathological analyses revealed that the ovalbumin-exposed mice had increased astroglial, microglial, and eosinophilic infiltration in the olfactory bulb, as well as increased eosinophils in the nasal mucosa. The ovalbumin-exposed mice also had decreased dendritic spine density and a lower proportion of mature spines, suggesting the impairment of stimulus-induced synaptogenesis. In conclusion, postnatal allergic exposure induced an ASD-like phenotype, as well as allergic rhinitis, which was followed by glial inflammation in the olfactory bulb parenchyma.

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37. Tien Y, Wei LC. Expanding perspectives on figurative language processing in autism spectrum disorder: A commentary on Lampri et al.’s review. Autism Res. 2024.

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38. van Huizen JC, van Dijk J, Staal WG, van der Voort MC. Bringing the autistic lifeworld to supportive technology design: an enactive approach. CoDesign. 2024; 20(2): 243-65.

Supportive technologies for autistic individuals are promising in principle, yet their uptake remains limited. Critics argue that in current designs of supportive technologies, autism is mostly framed as a ‘disorder’ whose limitations can be pragmatically compensated for. To increase uptake, designers should get a better handle on how to incorporate the full richness of the autistic experience into the design process. This paper presents an integrative framework of the autistic lifeworld, called Autistic Lifeworld Design (hereafter: ALD). ALD evolved in a transdisciplinary research setting, substantiated by 11 design case studies with autistic young adults as well as theoretical inquiries into enactivism, design and autism. It consists of four dimensions of experience – sensory, habitual, social, and affective -, each providing specific pointers on how to better understand how autistic people experience the world and how supportive technologies may complement that experience. By adopting an enactive approach, ALD enables a reframing of supportive technology as helping to sustain different levels of homoeostasis. It offers a novel lens that allows designers to put the lived experiences of autistic individuals at the centre of the design process, with special attention to the role of bodily structures and processing in shaping these experiences.

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39. Zhu Z, Ding X, Tong L. Early Cues from Parent-Child Interaction: Comparisons Among Young Children Diagnosed with Autism Spectrum Disorder and Developmental Language Disorder and Children not Diagnosed with a Disability. J Autism Dev Disord. 2024.

Over the past ten years, there has been a significant improvement in the sensibility and specificity of the earlier diagnosis of ASD. However, parenting traits were relatively explored among children with different disabilities. We aimed to clarify the characteristics of parent-child interaction among children with ASD and DLD, compared with children not diagnosed with a disability. The study recruited 280 children aged 1.5-3.9 years (30 children with ASD, 48 children with DLD, and 202 TD children) and their primary caregivers. Parent-child interaction was measured based on video recordings and observation. One-way ANOVA was used for the comparison of IRS-C scores among the three groups, and the t-test was used for pairwise comparisons; effect size was also calculated. Children’s age and sex were further considered as grouping category in our analyses. All comparison models were adjusted by demographic background (i.e. child age and sex, sibling, main caregiver, mother education, and family annual income). Children with ASD showed the lowest level of general social competence compared to children with DLD (d = 1.298, P < 0.001) and TD group (d = 1.833, P < 0.001). Children with DLD showed less responsiveness (d = 0.780, P < 0.001) and less empathy (d = 0.706, P < 0.001) than TD children. Caregivers of children with ASD also showed the lowest level of parenting attributes relative to caregivers of children with DLD (d = 0.978, P < 0.001) and caregivers of TD children (d = 0.860, P < 0.001). The child- and parent-related traits also varied by child age and sex. We posit that parent-child interaction necessitates greater attention with respect to early screening and identification.

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