1. Boxerman S, Flores B, Yang X, Masters E, Crehan ET, French AV. Development and Evaluation of « Period Kits » For Adolescents with Intellectual and Developmental Disabilities: An Embedded Mixed Methods Study. J Pediatr Adolesc Gynecol;2024 (Sep 14)

BACKGROUND: Patients with intellectual and developmental disabilities (IDD) experience greater unmet medical service needs and decreased care satisfaction compared to those without these diagnoses. There are no evidence-based resources widely available to prepare children with IDD for menarche. METHODS: This IRB approved embedded mixed methods study investigated the efficacy of « period kits » for patients with IDD to ease anxiety and improve preparedness for menarche. Custom kits included a colorful pouch, an original social story, a resource list, and common period management items. Nine family pairs (child/adult) were enrolled. Surveys performed before and after kit exploration queried participants’ understanding of menarche, and feedback about the kit itself. Data were analyzed using thematic analysis. RESULTS: Surveys of the children showed limited knowledge about periods at baseline. Additional themes prior to provision of the « period kit » included limited knowledge, negative perceptions and emotional responses about menstruation and puberty and hesitancy approaching period conversations. After kit exposure, there was an improvement in period related knowledge and promotion of interhousehold discussion with continued room for conversation. CONCLUSIONS: Many kids with IDD have limited baseline knowledge about menstruation. Custom « period kits » may be helpful in stimulating conversation within families and promoting increased knowledge about menses to children and families. Limitations of this study are small size and qualitative nature, potentially limiting generalizability and external data validity.

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2. Carpita B, Bonelli C, Schifanella V, Nardi B, Amatori G, Massimetti G, Cremone IM, Pini S, Dell’Osso L. Autistic traits as predictors of post-traumatic stress symptoms among patients with borderline personality disorder. Front Psychiatry;2024;15:1443365.

BACKGROUND: Autistic traits (AT) seem to be particularly frequent among patients with borderline personality disorder (BPD). Moreover, the autism spectrum is considered a vulnerability factor for the development of post-traumatic stress disorder (PTSD) symptoms, increasing the vulnerability of BPD subjects toward the development of a stress-related disorder. AIM: The study aimed to investigate the association between AT and trauma-related symptoms in a clinical sample of patients with BPD. METHODS: A total of 48 patients with a clinical diagnosis of BPD and 52 healthy control (HC) subjects were recruited and assessed with the Adult Autism Subthreshold Spectrum Self-Report (AdAS Spectrum) questionnaire and the Trauma and Loss Spectrum-Self-Report questionnaire (TALS-SR). The BPD group was divided into two subgroups: BPD with a symptomatological diagnosis of PTSD (pBPD = 25) and BPD not diagnosed with PTSD (No-pBPD = 23). RESULTS: The clinical sample scored significantly higher in almost all AdAS domains. Moreover, pBPD groups reported higher AdAS and TALS-SR scores in the total and in various domains than the No-pBPD group, which scored higher in several domains than HC. AdAS Restricted interests and rumination domain scores were positive predictors of BPD presence independently from PTSD, while Inflexibility and adherence to routine domain was a negative predictor. Finally, AdAS Hyper/hyporeactivity to sensory stimuli domain was a positive predictor only for inclusion in the pBPD group. CONCLUSION: Our study confirmed the existence of a statistically significant relationship between the autism spectrum and BPD, while BPD subjects diagnosed with PTSD seem to show a higher autism spectrum burden.

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3. Chen S, Wang J, Xiaofang C, Zhang Y, Hong Y, Zhuang W, Huang X, Kang J, Ou P, Huang L. Chinese acupuncture: A potential treatment for autism rat model via improving synaptic function. Heliyon;2024 (Sep 15);10(17):e37130.

PURPOSE: Autistic symptom improvement can be observed in children treated with acupuncture, but the mechanism is still being explored. In the present study, we used scalp acupuncture to treat autism rat model, and then their improvement in the abnormal behaviors and specific mechanisms behind were revealed by detecting animal behaviors, analyzing the RNA sequencing of the prefrontal cortex (PFC), and observing the ultrastructure of PFC neurons under the transmission electron microscope. METHODS: On gestational day 12.5, Wistar rats were given valproic acid (VPA) by intraperitoneal injection, and their offspring were considered to be reliable rat models of autism. They were randomized to VPA or VPA-acupuncture group (n = 8). Offspring of Wistar pregnant rats that were simultaneously injected with saline were randomly selected as the wild-type group (WT). VPA_acupuncture group rats received acupuncture intervention at 23 days of age for 4 weeks, and the other two groups followed without intervention. After the intervention, all experimental rats underwent behavioral tests. Immediately afterward, they were euthanized by cervical dislocation, and their prefrontal cortex was isolated for RNA sequencing and transmission electron microscopy. RESULTS: The main results are as follows: 1. Animal behavioural tests: VPA group rats showed more anxiety-like behaviour and repetitive, stereotyped behaviour than WT group rats. While VPA group rats showed less spatial exploration ability, activity level, social interaction, and social novelty preference than WT group rats. It was gratifying to observe that acupuncture indeed improved these abnormal behaviors of autism rat model. 2. RNA-sequencing: The three groups of rats differed in the expression and enrichment pathways of multiple genes related to synaptic function, neural signal transduction, immune-inflammatory responses and circadian rhythm regulation. Our experiments indicated that acupuncture can alleviate the major symptoms of ASD by improving these neurological abnormalities. 3. Under the transmission electron microscopy, several lysosomes and mitochondrial structural abnormalities were observed in the prefrontal neurons of VPA group rats, which were manifested as atrophy of the mitochondrial membrane, blurring or disappearance of the mitochondrial cristae, and even vacuolization. Moreover, the number of synapses and synaptic vesicles was relatively small. Conversely, the mitochondrial structure of rats in the WT group and VPA_acupuncture was normal, and the number of synapses and synaptic vesicles was relatively large. CONCLUSION: Acupuncture effectively improved the abnormal behaviors of autism rat model and the ultrastructure of the PFC neurons, which might worked by improving their abnormal synaptic function, synaptic plasticity promoting neuronal signal transduction and regulating immune-inflammatory responses.

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4. Gao T, Dang W, Jiang Z, Jiang Y. Exploring the Missing link between vitamin D and autism spectrum disorder: Scientific evidence and new perspectives. Heliyon;2024 (Sep 15);10(17):e36572.

AIM: This study aims to address the key question of the causal relationship between serum levels of 25-hydroxyvitamin D (vitamin D) and autism spectrum disorders (ASD). METHODS: Publicly available Genome-Wide Association Study (GWAS) datasets were used to conduct the bidirectional Two-sample MR analyses using methods including inverse-variance weighted (IVW), weighted median, MR-Egger regression, simple mode, MR-PRESSO test, Steiger filtering, and weighted mode, followed by BWMR for validation. RESULTS: The MR analysis indicated that there was no causal relationship between Vitamin D as the exposure and ASD as the outcome in the positive direction of the MR analysis (IVW: OR = 0.984, 95 % CI: 0.821-1.18, P = 0.866). The subsequent BWMR validation stage yielded consistent results (OR = 0.984, 95 % CI 0.829-1.20, P = 0.994). Notably, in the reverse MR analysis with ASD as the exposure and Vitamin D as the outcome, the results suggested that the occurrence of ASD could lead to decreased Vitamin D levels (IVW: OR = 0.976, 95 % CI: 0.961-0.990, P = 0.000855), with BWMR findings in the validation stage confirming the discovery phase (OR = 0.975, 95 % CI: 0.958-0.991, P = 0.00297). For the positive MR analysis, no pleiotropy was detected in the instrumental variables. Similarly, no pleiotropy or heterogeneity was detected in the instrumental variables for the reverse MR analysis. Sensitivity analysis using the leave-one-out approach for both positive and reverse instrumental variables suggested that the MR analysis results were robust. CONCLUSION: Through the discovery and validation analysis process, we can confidently assert that there is no causative link between Vitamin D and ASD, and that supplementing Vitamin D is not expected to provide effective improvement for patients with ASD. Our study significantly advances a new perspective in ASD research and has a positive impact on medication guidance for patients with ASD.

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5. Griffen B, Lorah ER, Caldwell N, Hantula DA, Nosek J, Tincani M, Lemley S. The Effects of Artificial Intelligence on Implementors’ Fidelity of Instructional Strategies During Handwashing Acquisition in Children with Autism. J Dev Phys Disabil;2024;36(5):793-819.

Handwashing is a vital skill for maintaining health and hygiene. For individuals with intellectual and developmental disabilities (IDD), such as autism spectrum disorder, evidence-based strategies, such as prompting and task analysis, may be effective in teaching these skills. Due to the shortage of experts who teach individuals with IDD skills such as handwashing, staff working with children need a means of ensuring these instructional strategies are implemented with fidelity. This study examined the effects of a tablet-based application that used artificial intelligence (GAINS®) on four behavior technicians’ implementation of least-to-most prompting, total task chaining, and time delay during an acquisition of handwashing program with young children with autism. All four technicians increased fidelity immediately upon using GAINS and all four technicians reached mastery criteria within the shortest number of sessions possible. One child participant met mastery criteria, two showed some gains, and one demonstrated a high degree of variability across sessions. Limitations of the least-to-most prompting procedure, user design, considerations and directions for future research and practice are discussed.

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6. He X, Yang Y, Zhou S, Wei Q, Zhou H, Tao J, Yang G, You M. Alterations in microbiota-metabolism-circRNA crosstalk in autism spectrum disorder-like behaviours caused by maternal exposure to glyphosate-based herbicides in mice. Ecotoxicol Environ Saf;2024 (Sep 17);285:117060.

Epidemiological evidence indicates exposure to glyphosate-based herbicides (GBHs) increases the risk for autism spectrum disorder (ASD). The gut microbiota has been found to influence ASD behaviours through the microbiota-gut-brain axis. However, the underlying links between early life GBH exposure and ASD-like phenotypes through the microbiota-gut-brain axis remain unclear. Therefore, we exposed mice to low-dose GBH (0.10, 0.25, 0.50, and 1.00 %) and determined the effects on ASD-like behaviours. Furthermore, three kinds of omics (gut microbiomics, metabolomics, and transcriptomics) were conducted to investigate the effects of GBH exposure on gut microbiota, gut metabolites, and circular RNAs (circRNAs) in the prefrontal cortex (PFC) using a cross-generational mouse model. Behavioural analyses suggested social impairment and repetitive/stereotypic behaviours in the GBH-exposed offspring. Furthermore, maternal exposure to glyphosate significantly altered the ASD-associated gut microbiota of offspring, and ASD-associated gut metabolites were identified. Specifically, we found that alterations in the gut microenvironment may contribute to changes in gut permeability and the blood-brain barrier, which are related to changes in the levels of circRNAs in the PFC. Our results suggest a potential effect of circRNAs through the disruption of the gut-brain interaction, which is an important factor in the pathogenesis of ASD in offspring induced by maternal exposure to GBH.

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7. Huang Y, Jia Z, Lu X, Wang Y, Li R, Zhou A, Chen L, Wang Y, Zeng HC, Li P, Ghassabian A, Yuan N, Kong F, Xu S, Liu H. Prenatal Exposure to Per- and Polyfluoroalkyl Substances and ASD-Related Symptoms in Early Childhood: Mediation Role of Steroids. Environ Sci Technol;2024 (Sep 17);58(37):16291-16301.

Previous studies regarding the associations between perfluoroalkyl and polyfluoroalkyl substances (PFAS) and autism spectrum disorder (ASD) have yielded inconsistent results, with the underlying mechanisms remaining unknown. In this study, we quantified 13 PFAS in cord serum samples from 396 neonates and followed the children at age 4 to assess ASD-related symptoms. Our findings revealed associations between certain PFAS and ASD-related symptoms, with a doubling of perfluorononanoic acid (PFNA), perfluorodecanoic acid (PFDA), and perfluoroundecanoic acid (PFUnDA) concentrations associated with respective increases of 1.79, 1.62, and 1.45 units in language-related symptoms and PFDA exhibiting an association with higher score of sensory stimuli. Nonlinear associations were observed in the associations of 6:2 chlorinated polyfluorinated ether sulfonate (Cl-PFAES) and 8:2 Cl-PFAES with ASD-related symptoms. Employing weighted quantile sum (WQS) regression, we observed significant mixture effects of multiple PFAS on all domains of ASD-related symptoms, with PFNA emerging as the most substantial contributor. Assuming causality, we found that 39-40% of the estimated effect of long-chain PFAS (PFUnDA and PFDoDA) exposure on sensory stimuli was mediated by androstenedione. This study provides novel epidemiological data about prenatal PFAS mixture exposure and ASD-related symptoms.

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8. Jiang X, Xu C, Xu C, Liu Y, Li L, Li Q, Huang C, Hu J. 2-Ethylhexyl Diphenyl Phosphate Induces Autism Spectrum Disorder-Like Behaviors in Offspring Mice by Disrupting Postsynaptic Development. Environ Sci Technol;2024 (Sep 17);58(37):16347-16356.

As organophosphorus flame retardants (OPFRs) are constantly detected in human samples, the neurotoxicity of OPFRs is of concern. In this study, pregnant ICR mice were exposed to 2-ethylhexyl diphenyl phosphate (EHDPP) in drinking water from gestation to lactation to investigate its effects on autism spectrum disorder-like (ASD-like) behaviors in offspring. Serum EHDPP concentrations in dams in the 0.4, 2, and 10 mg/kg groups were 0.282 ± 0.051, 0.713 ± 0.115, and 0.974 ± 0.048 ng/mL, respectively, within the concentration range in humans. At the highest dose, EHDPP exposure induced ASD-like behaviors in both female and male offspring. Significant reductions in mature dendritic spines and structural damage to the postsynaptic density zone were noted in all but the lowest exposure groups, indicating postsynaptic membrane impairment. Mechanistically, EHDPP significantly downregulated disc large MAGUK scaffold protein 4 expression by inhibiting protein kinase B and type 1 insulin-like growth factor receptor phosphorylation. In the heterologous synapse formation assay in vivo, EHDPP significantly reduced the levels of postsynaptic density protein 95 expression in neurons at 1 μM. Overall, the study utilized in vitro and in vivo experiments to confirm that EHDPP damaged postsynaptic membrane formation and might increase the incidence of ASD in offspring.

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9. Katirai A. Autism and emotion recognition technologies in the workplace. Autism;2024 (Sep 16):13623613241279704.

Technologies using artificial intelligence to recognize people’s emotional states are increasingly being developed under the name of emotional recognition technologies. Emotion recognition technologies claim to identify people’s emotional states based on data, like facial expressions. This is despite research providing counterevidence that emotion recognition technologies are founded on bad science and that it is not possible to correctly identify people’s emotions in this way. The use of emotion recognition technologies is widespread, and they can be harmful when they are used in the workplace, especially for autistic workers. Although previous research has shown that the origins of emotion recognition technologies relied on autistic people, there has been little research on the impact of emotion recognition technologies on autistic people when it is used in the workplace. Through a review of recent academic studies, this article looks at the development and implementation processes of emotion recognition technologies to show how autistic people in particular may be disadvantaged or harmed by the development and use of the technologies. This article closes with a call for more research on autistic people’s perception of the technologies and their impact, with involvement from diverse participants.

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10. Kimmig AS, Burger L, Schall M, Derntl B, Wildgruber D. Impairment of affective and cognitive empathy in high functioning autism is mediated by alterations in emotional reactivity. Sci Rep;2024 (Sep 17);14(1):21662.

Empathy impairments are considered a key aspect of autism-spectrum disorders (ASD). Previous research consistently shows reduced cognitive empathy, but findings on affective empathy vary, possibly due to experimental design variations (e.g., stimulus modality, social distance) and individual psychological factors (e.g., perceptual abilities, emotional reactivity). This study aims to clarify deficits in affective and cognitive empathy in ASD by addressing these contributing factors. Empathy was examined in 34 autistic individuals and 33 typically developed controls (TDCs) through the Textual Empathy Test (TET). The TET was developed to assess emotional responses when imagining oneself (emotional reactivity) as compared to a target person (friend, stranger) in emotional situations presented via short verbal descriptions. Participants rated emotional states of the target person (cognitive empathy) as well as their own emotional responses when imagining the target person in that situation (affective empathy). Ratings were interpreted relative to normative mean values through standardized regression coefficients. Results showed that high-functioning autism was associated with lower cognitive and affective empathy irrespective of social distance as well as with decreased emotional reactivity compared to controls. Moreover, emotional reactivity mediated the impact of ASD on both empathic components. In summary, altered emotional reactivity may underlie impaired empathy in autistic individuals.

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11. Maeda K, Tanimura M, Masago Y, Horiyama T, Takemoto H, Sasaki T, Koyama R, Ikegaya Y, Ogawa K. Development of an in vitro compound screening system that replicate the in vivo spine phenotype of idiopathic ASD model mice. Front Pharmacol;2024;15:1455812.

Autism Spectrum Disorder (ASD) is a developmental condition characterized by core symptoms including social difficulties, repetitive behaviors, and sensory abnormalities. Aberrant morphology of dendritic spines within the cortex has been documented in genetic disorders associated with ASD and ASD-like traits. We hypothesized that compounds that ameliorate abnormalities in spine dynamics might have the potential to ameliorate core symptoms of ASD. Because the morphology of the spine is influenced by signal inputs from other neurons and various molecular interactions, conventional single-molecule targeted drug discovery methods may not suffice in identifying compounds capable of ameliorating spine morphology abnormalities. In this study, we focused on spine phenotypes in the cortex using BTBR T (+) Itpr3 (tf) /J (BTBR) mice, which have been used as a model for idiopathic ASD in various studies. We established an in vitro compound screening system using primary cultured neurons from BTBR mice to faithfully represent the spine phenotype. The compound library mainly comprised substances with known target molecules and established safety profiles, including those approved or validated through human safety studies. Following screening of this specialized library containing 181 compounds, we identified 15 confirmed hit compounds. The molecular targets of these hit compounds were largely focused on the 5-hydroxytryptamine receptor (5-HTR). Furthermore, both 5-HT(1A)R agonist and 5-HT(3)R antagonist were common functional profiles in hit compounds. Vortioxetine, possessing dual attributes as a 5-HT(1A)R agonist and 5-HT(3)R antagonist, was administered to BTBR mice once daily for a period of 7 days. This intervention not only ameliorated their spine phenotype but also alleviated their social behavior abnormality. These results of vortioxetine supports the usefulness of a spine phenotype-based assay system as a potent drug discovery platform targeting ASD core symptoms.

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12. Malik S, Ali SA, Mehdi AM, Raza A, Bashir S, Baig DN. A pilot study: Examining cytoskeleton gene expression profiles in Pakistani children with autism spectrum disorder. Int J Dev Neurosci;2024 (Sep 17)

BACKGROUND: Finding effective pharmacological interventions to address the complex array of neurodevelopmental disorders is currently an urgent imperative within the scientific community as these conditions present significant challenges for patients and their families, often impacting cognitive, emotional, and social development. In this study, we aimed to explore non-invasive method to diagnose autism spectrum disorders (ASD) within Pakistan children population and to identify clinical drugs for its treatment. AIMS: The current report outlines a comprehensive bidirectional investigation showcasing the successful utilization of saliva samples to quantify the expression patterns of profilins (PFN1, 2, and 3); and ERM (ezrin, radixin, and moesin) proteins; and additionally moesin pseudogene 1 and moesin pseudogene 1 antisense (MSNP1AS). Subsequently, these expression profiles were employed to forecast interactions between drugs and genes in children diagnosed with ASD. METHODS: This study sought to delve into the intricate gene expression profiles using qualitative polymerase chain reaction of profilin isoforms (PFN1, 2, and 3) and ERM genes extracted from saliva samples obtained from children diagnosed with ASD. Through this analysis, we aimed to elucidate potential molecular mechanisms underlying ASD pathogenesis, shedding light on novel biomarkers and therapeutic targets for this complex neurological condition. (n = 22). Subsequently, we implemented a diagnostic model utilizing sparse partial least squares discriminant analysis (sPLS-DA) to predict drugs against our genes of interest. Furthermore, connectivity maps were developed to illustrate the predicted associations of 24 drugs with the genes expression. RESULTS: Our study results showed varied expression profile of cytoskeleton linked genes. Similarly, sPLS-DA model precisely predicted drug to genes response. Sixteen of the examined drugs had significant positive correlations with the expression of the targeted genes whereas eight of the predicted drugs had shown negative correlations. CONCLUSION: Here we report the role of cytoskeleton linked genes (PFN and ERM) in co-relation to ASD. Furthermore, variable yet significant quantitative expression of these genes successfully predicted drug-gene interactions as shown with the help of connectivity maps that can be used to support the clinical use of these drugs to treat individuals with ASD in future studies.

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13. Murphy D, Walker F, Broyd J. Do autism and psychopathy co-occur? A systematic review and clinical discussion. Crim Behav Ment Health;2024 (Sep 16)

BACKGROUND: Although the prevalence is unknown, psychopathy can be a possible co-occurring condition associated with autism especially among forensic populations. However, the relationship between these two conditions remains poorly understood. AIMS: To carry out a systematic review of the available literature exploring the relationship between autism and psychopathy. METHODS: A systematic literature review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines using terms for autism and psychopathy to search the literature databases Scopus, Pubmed, Web of Science, ASSIA, APA Psych Info, Medline and EMBASE from 1980 to March 2024. For inclusion, we required that a recognised measure of autism and psychopathy or associated features of the latter had been used. RESULTS: Of the 4230 potential articles identified, 37 met the selection criteria. Insufficient and inconsistent methodologies for data pooling meant that a narrative analysis was used. Although there is some overlap, four broad themes emerged relating to (1) assessment and frequency of co-occurrence, (2) behavioural and neurophysiological expressions of empathy, (3) behavioural contagion effects, mirroring, mimicry and other linking mechanisms and (4) emotional face perception and theory of mind characteristics. Within these areas there are some specific differences between the two conditions. However, the research to date examining the relationship between autism and psychopathy has mostly been with children and males, carried out with non-clinical non-forensic populations, as well as using self-report measures and parental ratings. Prior research has also largely focused on looking for differences between these conditions rather than co-occurrence. CONCLUSION: This review outlines a case for considering autism and psychopathy as distinct, but potentially co-occurring conditions and highlights the need for more research into how the two conditions interact with clinical populations. There also appears to be a need for guidelines on when and how to assess psychopathy with autistic individuals and a better understanding of the therapeutic needs and factors influencing the long-term outcomes of autistic individuals who may also present with co-occurring psychopathy.

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14. Novielli P, Romano D, Magarelli M, Diacono D, Monaco A, Amoroso N, Vacca M, De Angelis M, Bellotti R, Tangaro S. Personalized identification of autism-related bacteria in the gut microbiome using explainable artificial intelligence. iScience;2024 (Sep 20);27(9):110709.

Autism spectrum disorder (ASD) affects social interaction and communication. Emerging evidence links ASD to gut microbiome alterations, suggesting that microbial composition may play a role in the disorder. This study employs explainable artificial intelligence (XAI) to examine the contributions of individual microbial species to ASD. By using local explanation embeddings and unsupervised clustering, the research identifies distinct ASD subgroups, underscoring the disorder’s heterogeneity. Specific microbial biomarkers associated with ASD are revealed, and the best classifiers achieved an AU-ROC of 0.965 ± 0.005 and an AU-PRC of 0.967 ± 0.008. The findings support the notion that gut microbiome composition varies significantly among individuals with ASD. This work’s broader significance lies in its potential to inform personalized interventions, enhancing precision in ASD management and classification. These insights highlight the importance of individualized microbiome profiles for developing tailored therapeutic strategies for ASD.

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15. Pearson E, Opoku MP. Experiences of service and diagnosis among immigrant families of young children with suspected or diagnosed developmental disabilities. Ethn Health;2024 (Sep 17):1-18.

OBJECTIVES: While early diagnosis is fundamental to the development of children with developmental disabilities (DD), limited attention has been paid to immigrant parents’ experience of early encounters with systems when they begin seeking supports for their children with DD. This study aimed to contribute to better understanding of immigrant parents’ experiences of early encounters with services for families and children with suspected or diagnosed DD. DESIGN: A longitudinal, qualitative approach was adopted. Over 12 months, multiple interviews were conducted with four immigrant families with children aged between two and four years who were attending a mobile playgroup offering early learning supports for children with suspected or diagnosed DD in communities with low access to formal supports. During the first three months of the study, families were accompanied by the first author on weekly visits to the playgroup. Participant observations and informal discussions with staff delivering early intervention supports via the playgroup provided further insight into families’ initial and on-going encounters with services and supports. During the remaining nine months, multiple interviews were conducted with participating families, to document their on-going experiences and encounters with medical practitioners and therapists. RESULTS: Thematic analysis of data generated four key themes: Initial encounters with medical professionals, Confusion and ‘missed’ diagnosis, Gaps in understanding, collaboration and communication, and Families’ desire to learn and implement strategies. CONCLUSION: Families made concerted efforts to locate appropriate supports. They also faced barriers including a lack of openness and genuine consultation, particularly in their encounters with health professionals. These barriers resulted in a level of mistrust and detachment from formalised supports. Results highlight the critical importance for health professionals of ‘tuning into’ family concerns through relationship-based approaches, in order to establish shared understanding and mutual respect between professionals and families, particularly for immigrant families seeking support for their young children.

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16. Ressa H, Newman BT, Jacokes Z, McPartland JC, Kleinhans NM, Druzgal TJ, Pelphrey KA, Van Horn JD. Widespread Associations between Behavioral Metrics and Brain Microstructure in ASD. bioRxiv;2024 (Sep 6)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and repetitive behaviors. A diagnosis of ASD is provided by a clinician following cognitive and behavioral evaluations, but there is currently no biomarker associating these metrics with neurological changes. Our lab has previously found that g-ratio, the proportion of axon width to myelin diameter, and axonal conduction velocity, which is associated with the capacity of an axon to carry information, are both decreased in ASD individuals. By associating these differences with performance on cognitive and behavioral tests, we can evaluate which tests most reveal changes in the brain. Analyzing 273 participants (148 with ASD) ages 8-to-17 (49% female) through an NIH-sponsored Autism Centers of Excellence (ACE) network (Grant#: MH100028), we observe widespread associations between behavioral and cognitive evaluations of autism and between behavioral and microstructural metrics. Analyzing data from all participants, conduction velocity but not g-ratio was significantly associated with many behavioral metrics. However, this pattern was reversed when looking solely at ASD participants. This reversal may suggest that the mechanism underlying differences between autistic and non-autistic individuals may be distinct from the mechanism underlying ASD behavioral severity. Two additional machine learning cluster analyses applied to neuroimaging data reinforce the association between neuroimaging and behavioral metrics and suggest that age-related maturation of brain metrics may drive changes in ASD behavior. By associating neuroimaging metrics with ASD, it may be possible to measure and identify individuals at high risk of ASD before behavioral tests can detect them. SIGNIFICANCE STATEMENT: This study establishes numerous relationships between multiple behavioral, language, and social metrics in ASD. Subsequently, this study is the first to then show associations between diffusion microstructure and subscales of behavioral assessments. Limited associations of these behaviors with conduction velocity may indicate that axonal diameter is a predominating factor in characterizing ASD over other metrics, such as myelination, however within ASD subjects the g-ratio is more closely related to behavioral metrics, suggesting a potential role for myelination in ASD severity. These findings suggest that some subscales and metrics more accurately capture behaviors associated neurologically with ASD than others, including composite scores, demonstrating the potential to identify children at high risk for ASD at an earlier age.

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17. Schendel D, Ejlskov L, Overgaard M, Jinwala Z, Kim V, Parner E, Kalkbrenner AE, Ladd Acosta C, Fallin MD, Xie S, Mortensen PB, Lee BK. 3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings. Autism Res;2024 (Sep 16)

The relatively few conditions and family member types (e.g., sibling, parent) considered in investigations of family health history in autism spectrum disorder (ASD, or autism) limits understanding of the role of family history in autism etiology. For more comprehensive understanding and hypothesis-generation, we produced an open-source catalog of autism associations with family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions. All live births in Denmark, 1980-2012, of Denmark-born parents (1,697,231 births), and their 3-generation family members were followed through April 10, 2017 for each of 90 diagnoses (including autism), emigration or death. Adjusted hazard ratios (aHR) were estimated via Cox regression for each diagnosis-family member type combination, adjusting for birth year, sex, birth weight, gestational age, parental ages at birth, and number of family member types of index person; aHRs also calculated for sex-specific co-occurrence of each disorder. We obtained 6462 individual family history aHRS across autism overall (26,840 autistic persons; 1.6% of births), by sex, and considering intellectual disability (ID); and 350 individual co-occurrence aHRS. Results are cataloged in interactive heat maps and down-loadable data files: https://ncrr-au.shinyapps.io/asd-riskatlas/ and interactive graphic summaries: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5. While primarily for reference material or use in other studies (e.g., meta-analyses), results revealed considerable breadth and variation in magnitude of familial health history associations with autism by type of condition, family member type, sex of the family member, side of the family, sex of the index person, and ID status, indicative of diverse genetic, familial, and nongenetic autism etiologic pathways. Careful attention to sources of autism likelihood in family health history, aided by our open data resource, may accelerate understanding of factors underlying neurodiversity.

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18. Shafer RL, Bartolotti J, Driggers A, Bojanek E, Wang Z, Mosconi MW. Visual feedback and motor memory contributions to sustained motor control deficits in autism spectrum disorder across childhood and into adulthood. Res Sq;2024 (Sep 4)

Background Autistic individuals show deficits in sustained fine motor control which are associated with an over-reliance on visual feedback. Motor memory deficits also have been reported during sustained fine motor control in autism spectrum disorders (ASD). The development of motor memory and visuomotor feedback processes contributing to sustained motor control issues in ASD are not known. The present study aimed to characterize age-related changes in visual feedback and motor memory processes contributing to sustained fine motor control issues in ASD. Methods Fifty-four autistic participants and 31 neurotypical (NT) controls ages 10-25 years completed visually guided and memory guided sustained precision gripping tests by pressing on force sensors with their dominant hand index finger and thumb. For visually guided trials, participants viewed a stationary target bar and a force bar that moved upwards with increased force for 15s. During memory guided trials, the force bar was visible for 3s, after which participants attempted to maintain their force output without visual feedback for another 12s. To assess visual feedback processing, force accuracy, variability (standard deviation), and regularity (sample entropy) were examined. To assess motor memory, force decay latency, slope, and magnitude were examined during epochs without visual feedback. Results Relative to NT controls, autistic individuals showed a greater magnitude and steeper slope of force decay during memory guided trials. Across conditions, the ASD group showed reduced force accuracy (β = .41, R (2)  = 0.043, t (79.3) =2.36, p = 0.021) and greater force variability (β=-2.16, R (2)  = .143, t (77.1) =-4.04, p = 0.0001) and regularity (β=-.52, R (2)  = .021, t (77.4) =-2.21, p = 0.030) relative to controls at younger ages, but these differences normalized by adolescence (age x group interactions). Lower force accuracy and greater force variability during visually guided trials and steeper decay slope during memory guided trials were associated with overall autism severity. Conclusions Our findings that autistic individuals show a greater rate and magnitude of force decay than NT individuals following the removal of visual feedback indicate that motor memory deficits contribute to fine motor control issues in ASD. Findings that sensorimotor differences in ASD were specific to younger ages suggest delayed development across multiple motor control processes.

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19. Smith JR, Lim S, Bindra S, Marler S, Rajah B, Williams ZJ, Baldwin I, Hossain N, Wilson JE, Fuchs DC, Luccarelli J. Longitudinal Symptom Burden and Pharmacologic Management of Catatonia in Autism with and without Profound Impairment: An Observational Study. medRxiv;2024 (Sep 6)

INTRODUCTION: Catatonia is a highly morbid psychomotor and affective disorder which can affect autistic individuals with and without profound impairment. Catatonic symptoms are treatable with pharmacotherapy and electroconvulsive therapy, but the longitudinal effectiveness of these treatments has not been described. METHODS: We conducted a prospective observational cohort study of patients with autism and co-morbid catatonia who received outpatient care in a specialized outpatient clinic from July 1(st), 2021 to May 31(st), 2024. Data investigating pharmacologic interventions, and clinical measures including the Bush Francis Catatonia Rating Scale (BFCRS), Kanner Catatonia Severity Scale (KCS), Kanner Catatonia Examination (KCE), and Clinical Global Impression – Improvement (CGI-I) were collected. RESULTS: Forty-five patients were identified with 39 (86.7%) meeting criteria for profound autism. All patients received pharmacotherapy. 44 (97.8%) were treated with benzodiazepines with a mean maximal daily dose of 17.4 mg (SD=15.8) lorazepam equivalents. Thirty-five patients (77.8%) required more than one medication class for treatment. Fourteen patients (31.1%) attempted to taper off benzodiazepines during the study period; of these, 5 patients (11.1%) were successfully tapered off, and the remaining 9 (17.8%) discontinued the taper due to a return of catatonic symptoms. Statistically significant improvement was observed across all clinical domains except the KCS. However, the majority remained symptomatic over the study period. CONCLUSIONS: Despite clinical improvements while receiving the gold standard for psychopharmacologic management of catatonia, chronic symptoms remained for the majority of catatonia patients over the study period, and few were able to taper and discontinue benzodiazepine treatment.

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20. Tonizzi I, Usai MC. Cognitive correlates of math abilities in autism spectrum disorder. PLoS One;2024;19(9):e0310525.

The purpose of the current study was to investigate the contribution of different cognitive processes to specific math abilities in students with autism spectrum disorder (ASD) and typically developing (TD) students. The study involved a group of students with ASD without intellectual disabilities (n = 26) and a group with TD students (n = 52). The two groups aged from six to 20 years old and were matched for age, sex ratio and visuospatial reasoning. To assess math abilities, four math tasks were administered: arithmetic facts, mental calculation, mathematical inferences and math problem solving. Concerning cognitive processes, participants were tested on vocabulary, verbal working memory, visuospatial working memory, response inhibition and interference control. The group with ASD showed lower scores on all specific math measures than the TD group; cognitive processes differently contributed to diverse math abilities, and vocabulary and verbal working memory were stronger associated to specific math abilities in the group with ASD than in the TD group. The current results suggest that students with ASD had lower math abilities that are generalized to different math tasks. Implications for research and clinical assessment and intervention were discussed.

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21. Wilde M, Ghanbari A, Mancienne T, Moran A, Poulsen RE, Constantin L, Lee C, Scholz LA, Arnold J, Qin W, Karle TJ, Petrou S, Favre-Bulle I, Hoffman EJ, Scott EK. Brain-wide circuitry underlying altered auditory habituation in zebrafish models of autism. bioRxiv;2024 (Sep 5)

Auditory processing is widely understood to occur differently in autism, though the patterns of brain activity underlying these differences are not well understood. The diversity of autism also means brain-wide networks may change in various ways to produce similar behavioral outputs. We used larval zebrafish to investigate auditory habituation in four genetic lines relevant to autism: fmr1 , mecp2 , scn1lab and cntnap2 . In free-swimming behavioral tests, we found each line had a unique profile of auditory hypersensitivity and/or delayed habituation. Combining the optical transparency of larval zebrafish with genetically encoded calcium indicators and light-sheet microscopy, we then observed brain-wide activity at cellular resolution during auditory habituation. As with behavior, each line showed unique alterations in brain-wide spontaneous activity, auditory processing, and adaptation in response to repetitive acoustic stimuli. We also observed commonalities in activity across our genetic lines that indicate shared circuit changes underlying certain aspects of their behavioral phenotypes. These were predominantly in regions involved in sensory integration and sensorimotor gating rather than primary auditory areas. Overlapping phenotypes include differences in the activity and functional connectivity of the telencephalon, thalamus, dopaminergic regions, and the locus coeruleus, and excitatory/inhibitory imbalance in the cerebellum. Unique phenotypes include loss of activity in the habenula in scn1lab , increased activity in auditory regions in fmr1, and differences in network activity over time in mecp2 and cntnap2 . Comparing these distinct but overlapping brain-wide auditory networks furthers our understanding of how diverse genetic factors can produce similar behavioral effects through a range of circuit- and network-scale mechanisms.

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22. Zhou S, Chen Z, Liu G, Ma L, Liu Y. High autistic traits linked with reduced performance on affective task switching: An ERP study. Neuroimage;2024 (Sep 17);300:120855.

Few studies have investigated affective flexibility in individuals with high autistic traits. In the present study, we employed affective task-switching paradigm combined with event related potential (ERP) technology to explore affective flexibility in individuals with high autistic traits. Participants were instructed to switch between identifying the gender (gender task) and emotion (emotion task) of presented faces. Two groups of participants were recruited based on the Autism Spectrum Quotient (AQ) scores: a High Autistic Group (HAG) and a Low Autistic Group (LAG). The results confirmed that the HAG exhibited greater behavioral emotion switch costs and increased N2 and decreased P3 components when switching to the emotion task. Additionally, we identified an affective asymmetric switch cost in the HAG, where the switch cost for the emotion task was larger than for the gender task at both behavioral and electrophysiological levels. In contrast, a symmetrical switch cost was observed in the LAG. These findings indicate that the HAG experiences difficulties with affective flexibility, particularly in tasks involving emotional processing. The patterns of affective asymmetric switch costs observed in both groups differed from previous results in autistic children and the general population, suggesting that the relative dominance of gender and emotion tasks may vary between the two groups. We propose that the dominance of emotion tasks declines as autistic traits increase.

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