1. Anderson C, Hochheimer S, Warren Z, Butter E, Hyman SL, Wang H, Wallace L, Levato L, Martin R, Stephenson KG, Norris M, Jacqueline W, Smith T, Johnson CR. Comparative effectiveness trial: Modular behavior approach for young autistic children compared to comprehensive behavioral intervention. Autism Res;2024 (Oct 7)

This 24-week single-blind trial tested a modular approach for young autistic children (MAYAC) that was delivered for fewer hours per week and modified based on child progress and parental input compared to comprehensive behavioral intervention treatment as usual (CBI, TAU). Participants were autistic children, ages 18-60 months of age. MAYAC was initially 5 h of intervention per week, one of which was parent training and the other four direct therapy focusing on social communication and engagement, but additional modules could be added for up to 10 h per week. Comprehensive behavior intervention was delivered for ≥15 h per week. Outcome measures included the Vineland Adaptive Behavior Scales; VABS, the Ohio Autism Clinical Improvement Scale – Autism Severity; OACIS – AS and the Pervasive Developmental Disorder Behavior Inventory – Parent; PDDBI-P. Implementation and parent satisfaction measures were also collected. Fifty-six children, mean age of 34 months, were randomized. Within-group analysis revealed significant improvements from baseline to week 24 for both MAYAC (p < 0.0001) and CBI, TAU (p < 0.0001) on the VABS. The noninferiority test was performed to test between group differences and MAYAC was not inferior to CBI, TAU on the VABS (p = 0.0144). On the OACIS - AS, 48.0% of MAYAC and 45.5% of CBI were treatment responders there were no significant changes on the PDDBI-P, for either group. Treatment fidelity was high for both groups (>95%) as was parent satisfaction. Findings from this small trial are promising and suggest MAYAC may be an alternative for some young autistic children and their families to CBI, TAU.

Lien vers le texte intégral (Open Access ou abonnement)

2. Astafeva D, Syunyakov T, Shapievskii D, Malashonkova E, Vlasov A, Shport S, Akhapkin R, Ashurov Z, Kolsanov A, Smirnova D. Virtual Reality / Augmented Reality (VR/AR) Approach to Develop Social and Communication Skills in Children and Adolescents with Autism Spectrum Disorders Without Intellectual Impairment. Psychiatr Danub;2024 (Sep);36(Suppl 2):361-370.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects a significant proportion of the world’s population, particularly children and adolescents. The sensory processing issues can be an evidence-based target for therapeutic/corrective interventions by controlling the intensity and targeted replacement of maladaptive sensory stimuli with neutral stimuli using virtual reality or augmented reality. SUBJECTS AND METHODS: We searched for articles on Pubmed. The search query included ((VR or virtual reality) or (AR or augmented reality)) and (children or adolescents) and (ASD or autism spectrum disorder or autism). RESULTS: Our criteria were met by 25 articles. 19 articles used VR, 5 articles used AR and 1 article used MR. Most interventions offer children and adolescents with ASD individualized tasks. Immersive VR games developed collaborative skills. Other systems encourage and teach directed facial gaze. Evaluation of the effectiveness of learning in VR/AR environment is carried out by means of different scales, qualitative analysis of surveys, questionnaires and interviews, studying the number and duration of eye contacts between the participant and the avatar. It should be noted that almost all studies were conducted on small samples, so their results allow us to draw only preliminary conclusions about the effectiveness of VR /AR. CONCLUSIONS: The following key areas of VR/AR technologies for children and adolescents with high-functioning ASD can be identified: communicating with an avatar, including answering its questions, tracking the child’s gaze and encouraging the child to look at the face, placing it in social situations close to real life, practicing common everyday situations, learning to recognize emotions. A VR/AR-based therapy approach may help children with autism spectrum disorder without cognitive impairment to develop higher levels of adaptation in terms of social and communication skills. However, more research is needed to evaluate the effectiveness of different methods.

Lien vers le texte intégral (Open Access ou abonnement)

3. Brown K. Navigating surgery with ADHD and autism. Bmj;2024 (Oct 8);387:q1834.

Lien vers le texte intégral (Open Access ou abonnement)

4. Chung EY, Sin KK, Chow DH. Building and testing of a robotic intervention framework to enhancing the social engagement of children with autism spectrum disorder. Disabil Rehabil Assist Technol;2024 (Oct 8):1-11.

PURPOSE: Humanoid robot intervention programmes for children with autism spectrum disorder (ASD) are being developed rapidly. This study aimed to develop and test a robotic intervention framework for children with ASD to ensure best practice. METHODS: In Phase I of this study, an initial framework was built based on a scoping review. This review aimed to identify the core elements conducive to effective robotic intervention programmes for children with ASD. In Phase II, the content of the initial framework was verified using a case study approach in a real-life setting. RESULTS: The robotic intervention framework, which comprised three domains, was built and tested. The three domains were robot-, child-, and programme-related factors. Elements within each domain were identified and verified in real-life contexts. CONCLUSIONS: The proposed framework will enhance evidence-based practice in robotic intervention programmes. However, further clinical testing is warranted to enhance the efficacy and validity of this framework. A good programme design incorporating all essential elements for effective intervention will ensure the success of the training programme for children with ASD. Contribute to the development of knowledge of and theoretical base for using robotic interventions for children with ASD.This study developed a testable program framework and inform researchers about scientific evidence regarding effective use of robotic intervention in the fields of rehabilitation and education.Contribute to the advancement of evidence-based practice (EBP) in the field of autism. eng

Lien vers le texte intégral (Open Access ou abonnement)

5. Der Dieye NA, Reis J, Delvenne V. Implementing the Early Start Denver Model in Senegal: Outcomes and Insights from a Low-Resource Context. Psychiatr Danub;2024 (Sep);36(Suppl 2):411-416.

BACKGROUND: Autism Spectrum Disorders (ASD) are characterized by significant challenges in social interaction and communication, accompanied by repetitive behaviors. Effective early interventions, such as the Early Start Denver Model (ESDM) are crucial but primarily studied in well-resourced Western countries. This study explores the adaptation and effectiveness of ESDM in Senegal, a low-resource setting, to adress gaps in autism care and intervention accessibility in Africa. SUBJECTS AND METHODS: An observational study was conducted at Diamniadio Children’s Hospital, Dakar, Senegal, from January 2019 to July 2021, focusing on children under 10 years suspected of having ASD. Diagnostic assessments were performed using the DSM-5 criteria with tools like the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). Interventions based on ESDM were adapted to local resources and involved regular family and patient engagement. RESULTS: Of the 114 children referred for ASD suspicion, 80 were diagnosed with ASD. Post-diagnosis, 30 children received follow-up care at the day hospital, and another 30 were managed via outpatient care. 20 children did not receive any follow-up care at Diamniadio Children’s Hospital. Significant socio-economic disparities were noted, influencing access to and engagement with intervention programs. No significant differences were found in clinical characteristics between groups, but socio-economic factors significantly affected intervention access. CONCLUSION: The adapted ESDM interventions show promise for implementation in resource-limited settings like Senegal, although challenges related to socio-economic disparities and service accessibility persist. Future research should focus on the integration of ASD services into broader health policies to enhance efficacy and accessibility.

Lien vers le texte intégral (Open Access ou abonnement)

6. Dun J, Wang J, Li J, Yang Q, Hang W, Lu X, Ying S, Shi J. A Trustworthy Curriculum Learning Guided Multi-Target Domain Adaptation Network for Autism Spectrum Disorder Classification. IEEE J Biomed Health Inform;2024 (Oct 8);Pp

Domain adaptation has demonstrated success in classification of multi-center autism spectrum disorder (ASD). However, current domain adaptation methods primarily focus on classifying data in a single target domain with the assistance of one or multiple source domains, lacking the capability to address the clinical scenario of identifying ASD in multiple target domains. In response to this limitation, we propose a Trustworthy Curriculum Learning Guided Multi-Target Domain Adaptation (TCL-MTDA) network for identifying ASD in multiple target domains. To effectively handle varying degrees of data shift in multiple target domains, we propose a trustworthy curriculum learning procedure based on the Dempster-Shafer (D-S) Theory of Evidence. Additionally, a domain-contrastive adaptation method is integrated into the TCL-MTDA process to align data distributions between source and target domains, facilitating the learning of domain-invariant features. The proposed TCL-MTDA method is evaluated on 437 subjects (including 220 ASD patients and 217 NCs) from the Autism Brain Imaging Data Exchange (ABIDE). Experimental results validate the effectiveness of our proposed method in multi-target ASD classification, achieving an average accuracy of 71.46% (95% CI: 68.85% – 74.06%) across four target domains, significantly outperforming most baseline methods (p<0.05).

Lien vers le texte intégral (Open Access ou abonnement)

7. Gonzalez Gonzalez E, Le Loc’h G, Al Husni Al Keilani M, Delvenne V. Early Onset Anorexia Nervosa in Children Aged 8 to 12 Years: a Retrospective Study. Psychiatr Danub;2024 (Sep);36(Suppl 2):317-320.

INTRODUCTION: Early onset anorexia nervosa accounts for 8% of anorexia cases worldwide. Very few studies on this subject exist, given the difficulty of obtaining a sufficiently significant sample. The aim of this study was to supplement the literature and investigate the clinical characteristics of early onset anorexia nervosa. SUBJECTS AND METHODS: This is a monocentric retrospective study carried out on the records of patients aged 8 to 12 years with early onset anorexia nervosa, hospitalized in the child psychiatry unit at the Queen Fabiola University Children’s Hospital, in Brussels, from 01/01/2000 to 01/07/2023. Descriptive statistics were then performed on the sample and compared with the data found in the literature. RESULTS: This study included 48 children aged 8 to 12 with early onset anorexia nervosa. In the sample, three children were diagnosed with autism spectrum disorder during hospitalization. The sample included 36 girls and 12 boys, with an average age of 11 years and 7 months. The patients had an average body mass index of 13.6 kg/m(2) on admission. A total of 87% of the parents had a history of psychiatric illness. A large majority of the children had underlying depressive and anxiety disorders. The duration of anorexia nervosa in these children was 13.5 months from diagnosis, with an average hospital stay of 5.4 months. CONCLUSIONS: This study seems to show the difficulty for parents and caregivers in diagnosing this illness and the probable impact of genetics and maternal depression on the development of early onset anorexia nervosa.

Lien vers le texte intégral (Open Access ou abonnement)

8. Henbest VS, Apel K. The Relation of Linguistic Awareness Skills to Reading and Spelling for Autistic and Non-Autistic Elementary School-Age Children. J Speech Lang Hear Res;2024 (Oct 8);67(10):3691-3713.

PURPOSE: For non-autistic children, it is well established that linguistic awareness skills support their success with reading and spelling. Few investigations have examined whether these same linguistic awareness skills play a role in literacy development for autistic elementary school-age children. This study serves as a first step in quantifying the phonological, prosodic, orthographic, and morphological awareness skills of autistic children; how these skills compare to those of non-autistic children; and their relation to literacy performance. METHOD: We measured and compared the phonological, prosodic, orthographic, and morphological awareness skills of 18 autistic (with average nonverbal IQs) and 18 non-autistic elementary school-age children, matched in age, nonverbal IQ, and real-word reading. The relations between linguistic awareness and the children’s word-level literacy and reading comprehension skills were examined, and we explored whether the magnitude of these relations was different for the two groups. Regression analyses indicated the relative contribution of linguistic awareness variables to performance on the literacy measures for the autistic children. RESULTS: The non-autistic children outperformed the autistic children on most linguistic awareness measures. There were moderate-to-strong relations between performances on the linguistic awareness and literacy measures for the non-autistic children, and most associations were not reliably different from those for the autistic children. Regression analyses indicate that the performance on specific linguistic awareness variables explains unique variance in autistic children’s literacy performance. CONCLUSION: Although less developed than those of their non-autistic peers, the linguistic awareness skills of autistic elementary school-age children are important for successful reading and spelling.

Lien vers le texte intégral (Open Access ou abonnement)

9. Kissine M, Clin E. Voice pitch and gender in autism. Autism;2024 (Oct 8):13623613241287973.

It is has often been observed that autistic individuals have higher-pitched voices than non-autistic ones, but no clear explanation for this difference has been put forth. However, autistic males are still dramatically over-represented in published research, including the acoustic studies that report higher pitch in autistic participants. In this study, we collected speech samples from a group of autistic and neurotypical adults that, unlike in most studies, was perfectly balanced between groups and genders. In this gender-balanced sample, pitch was significantly higher in autistic versus neurotypical men, but lower in autistic versus neurotypical women. Overall, women tend to have higher-pitched voices than men, but the magnitude of this difference is culture dependent and may be significantly influenced by the internalisation of normative expectations towards one’s gender. We propose that higher pitch in autistic males and lower pitch in autistic females could be due, at least in part, to a lesser integration of sociolinguistic markers of gender. Our report shows that speech atypicality should not be operationalised in terms of systematic and unidirectional deviation from the neurotypical baseline.

Lien vers le texte intégral (Open Access ou abonnement)

10. Kniola A, Ludwig NN, Singh V, Bradley C, Carpenter L, Dillon EF, Kanne S, Kim SH, Parish-Morris J, Snyder LG, Wodka EL. Delayed Milestones and Demographic Factors Relate to the Accuracy of Autism Screening in Females Using Spoken Language. J Autism Dev Disord;2024 (Oct 8)

Examine how milestone development, demographics, and emotional/behavioral functioning predict autistic females meeting the cutoff on a commonly used Autism screening tool (Social Communication Questionnaire: SCQ). We hypothesized that autistic girls with fewer developmental delays, whose parents have lower education, or are Black or Multiracial would be less likely to meet the SCQ cutoff. Further, those with more symptoms of Withdrawal/Depression, Social Problems, Thought Problems, and Attention Problems on the (Child Behavioral Checklist: CBCL) would be more likely to screen positive. A subset of participants enrolled in a large national cohort (SPARK) were included (5,946 autistic females). A cutoff score on the SCQ of 11 was used to form groups: Meet (M: N = 5,186) and Not Meeting (NM: N = 760). Autistic girls who had delayed toileting and motor milestones and whose parents attained higher education were more likely to screen positive. Girls who scored within the clinical range on the CBCL Thought Problems and Attention Problems syndrome scales were more likely to screen positive. Race and reported symptoms on the Withdrawn/Depressed and Social Problems syndrome scales did not relate to screening status. Results further support the existing literature suggesting that autistic girls must present with more significant delays/symptoms to be screened and diagnosed with autism, which can could impact their access to early intervention services and future skill development. Future research should examine additional factors that specifically put females at a disadvantage for being accurately identified, particularly for those who are speaking and/or of average cognitive ability.

Lien vers le texte intégral (Open Access ou abonnement)

11. Lee A, Lee SI, Shin Y, Lee J. The Reliability and Validity of the Korean Version of Autism Spectrum Quotient (AQ) Children’s Version. J Autism Dev Disord;2024 (Oct 8)

There is no validated screening measure for children with high-functioning autism spectrum disorder (ASD) in Korea. The purpose of the present study was (1) to examine the reliability and validity of the Korean version of the Autism Spectrum-Child (K-AQ-Child); (2) to find the optimal cut-off value of the K- AQ-Child in the Korean population. A total of 144 children aged 4-11 years (male 80.6%, mean age = 7.05 ± 1.75) were recruited in this study, with 72 in the high-functioning ASD group and 72 in the non-clinical Control group. The Cronbach’s alpha coefficient of the K-AQ-child was 0.962, showing excellent internal consistency. For discriminant validity, the ASD group scored significantly higher than the Control group on the total score and all the scores of the subdomains of the K-AQ-Child after controlling for sex. Significant positive correlation between total scores of the K-AQ-Child and the K-SCQ was found. The optimal cut-off value of 58.5 yielded a sensitivity of 0.931 and specificity of 0.986. K-AQ-Child is a valid and reliable measure to quantify autistic traits and identify the high-risk individuals for further diagnostic evaluation in intellectually capable children aged 4-11 years. It would be useful for both clinical practice and research purposes. Clinical Trial Registration The trial was registered at the Clinical Research Information Service (CRIS) of Republic of Korea (Registration Number: KCT0008907).

Lien vers le texte intégral (Open Access ou abonnement)

12. Lepri A. Psychoeducational and Behavioral Interventions in Autism Spectrum Disorder: is the ABA Method Really the Most Effective?. Psychiatr Danub;2024 (Sep);36(Suppl 2):203-204.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication, social interactions, and repetitive behaviors. Applied Behavior Analysis (ABA) is a prominent intervention aimed at modifying problem behaviors in individuals with ASD. ABA focuses on analyzing environmental contingencies and using operant conditioning to promote functional behaviors. Despite its widespread use, the effectiveness of ABA remains debated, with mixed scientific evidence. Some studies highlight its benefits, while others point out biases and limitations. Further research, including randomized controlled trials, is needed to determine the most effective interventions for ASD, considering the diverse needs of individuals and the potential biases in current studies.

Lien vers le texte intégral (Open Access ou abonnement)

13. Manning C. The introduction of Registered Reports in the Autism journal: The what, why and how. Autism;2024 (Oct 8):13623613241285676.

Lien vers le texte intégral (Open Access ou abonnement)

14. Murphy V, Laboy NM, Peretti K, Abbott SE. Stalking and autism. Ir J Psychol Med;2024 (Oct 8):1-2.

Lien vers le texte intégral (Open Access ou abonnement)

15. Nenadić I, Schröder Y, Hoffmann J, Evermann U, Pfarr JK, Bergmann A, Hohmann DM, Keil B, Abu-Akel A, Stroth S, Kamp-Becker I, Jansen A, Grezellschak S, Meller T. Superior temporal sulcus folding, functional network connectivity, and autistic-like traits in a non-clinical population. Mol Autism;2024 (Oct 8);15(1):44.

BACKGROUND: Autistic-like traits (ALT) are prevalent across the general population and might be linked to some facets of a broader autism spectrum disorder (ASD) phenotype. Recent studies suggest an association of these traits with both genetic and brain structural markers in non-autistic individuals, showing similar spatial location of findings observed in ASD and thus suggesting a potential neurobiological continuum. METHODS: In this study, we first tested an association of ALTs (assessed with the AQ questionnaire) with cortical complexity, a cortical surface marker of early neurodevelopment, and then the association with disrupted functional connectivity. We analysed structural T1-weighted and resting-state functional MRI scans in 250 psychiatrically healthy individuals without a history of early developmental disorders, in a first step using the CAT12 toolbox for cortical complexity analysis and in a second step we used regional cortical complexity findings to apply the CONN toolbox for seed-based functional connectivity analysis. RESULTS: Our findings show a significant negative correlation of both AQ total and AQ attention switching subscores with left superior temporal sulcus (STS) cortical folding complexity, with the former being significantly correlated with STS to left lateral occipital cortex connectivity, while the latter showed significant positive correlation of STS to left inferior/middle frontal gyrus connectivity (n = 233; all p < 0.05, FWE cluster-level corrected). Additional analyses also revealed a significant correlation of AQ attention to detail subscores with STS to left lateral occipital cortex connectivity. LIMITATIONS: Phenotyping might affect association results (e.g. choice of inventories); in addition, our study was limited to subclinical expressions of autistic-like traits. CONCLUSIONS: Our findings provide further evidence for biological correlates of ALT even in the absence of clinical ASD, while establishing a link between structural variation of early developmental origin and functional connectivity.

Lien vers le texte intégral (Open Access ou abonnement)

16. Philip P, Amulyavathy B, Lim M, Armstrong G, Grills N. Access to dental care among individuals with intellectual and developmental disabilities in India: A scoping review. Spec Care Dentist;2024 (Oct 7)

INTRODUCTION: Individuals with intellectual and developmental disabilities (IDDs) face numerous challenges in accessing dental care. Despite difficulties, more evidence exploring difficulties among this cohort in India is needed. This study aims to conduct a scoping review of articles published in India exploring access to dental care among individuals with IDD. METHOD: We followed the Arksey O’Malley framework for scoping reviews and the PRISMA guidelines for reporting studies. Findings were analyzed based on Levesque’s framework for access. RESULTS: Seventeen articles were collated from five databases. The perceived need for dental care was low, and dental visits were mainly need-based and infrequent. Knowledge regarding dental care did not translate to dental visits. Patient-related barriers were cost, transportation difficulties, fear, lack of dentist skills, patient behavior, and cooperation. From the providers’ perspective, most dentists were willing to treat but noted infrastructural and knowledge-based limitations. CONCLUSION: Access to dental care was limited due to infrastructure constraints and a lack of dentist training. Caregivers and individuals with IDD did not prioritize dental health, faced communication barriers, and were afraid of dental procedures. It is important to improve preventive dental care and raise awareness among caregivers of individuals with IDD in India. Training dentists and incorporating special care dentistry into the standard dental curriculum will improve access.

Lien vers le texte intégral (Open Access ou abonnement)

17. Shi H, Hirai M. Autistic traits linked to anxiety and dichotomous thinking: sensory sensitivity and intolerance of uncertainty as mediators in non-clinical population. Sci Rep;2024 (Oct 7);14(1):23334.

A recent theoretical cognitive model posits that three cognitive constructs-intolerance of uncertainty, lack of predictive processing, and dichotomous thinking-may interact with anxiety in autistic individuals. However, the interrelationships among these constructs remain unclear. We investigated this relationship in a non-clinical population using five questionnaires (Autism Spectrum Quotient, Glasgow Sensory Questionnaire, Short Intolerance of Uncertainty Scale, Penn State Worry Questionnaire, and Dichotomous Thinking Inventory) and conducted a path analysis. Data were collected from 405 adults (aged 20-22 years) in Experiment 1 and 628 (aged 20-49 years) in Experiment 2. In both experiments, autistic traits were significantly associated with both anxiety and dichotomous thinking, mediated by intolerance of uncertainty. Autistic traits were linked to intolerance of uncertainty, mediated by atypical sensory processing. Furthermore, autistic traits were directly associated with anxiety. No direct association was observed between anxiety and dichotomous thinking. Our results confirm the validity of Stark’s cognitive model in a non-clinical population. These findings provide new insights into anxiety and dichotomous thinking and shed light on the cognitive styles of autistic individuals.

Lien vers le texte intégral (Open Access ou abonnement)

18. Tsui HKH, Wong TY, Ma CF, Wong TE, Hsiao J, Chan SKW. Reliability of Theory of Mind Tasks in Schizophrenia, ASD, and Nonclinical Populations: A Systematic Review and Reliability Generalization Meta-analysis. Neuropsychol Rev;2024 (Oct 8)

Though theory of mind (ToM) is an important area of study for different disciplines, however, the psychometric evaluations of ToM tasks have yielded inconsistent results across studies and populations, raising the concerns about the accuracy, consistency, and generalizability of these tasks. This systematic review and meta-analysis examined the psychometric reliability of 27 distinct ToM tasks across 90 studies involving 2771 schizophrenia (SZ), 690 autism spectrum disorder (ASD), and 15,599 nonclinical populations (NC). Findings revealed that while all ToM tasks exhibited satisfactory internal consistency in ASD and SZ, about half of them were not satisfactory in NC, including the commonly used Reading the Mind in the Eye Test and Hinting Task. Other than that, Reading the Mind in the Eye Test showed acceptable reliability across populations, whereas Hinting Task had poor test-retest reliability. Notably, only Faux Pas Test and Movie for the Assessment of Social Cognition had satisfactory reliability across populations albeit limited numbers of studies. However, only ten studies examined the psychometric properties of ToM tasks in ASD adults, warranting additional evaluations. The study offered practical implications for selecting ToM tasks in research and clinical settings, and underscored the importance of having a robust psychometric reliability in ToM tasks across populations.

Lien vers le texte intégral (Open Access ou abonnement)

19. Yang K, Zhang T, Niu R, Zhao L, Cheng Z, Li J, Wang L. Unveiling the role of IGF1R in autism spectrum disorder: a multi-omics approach to decipher common pathogenic mechanisms in the IGF signaling pathway. Front Genet;2024;15:1483574.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition marked by impairments in social interaction, communication, and repetitive behaviors. Emerging evidence suggests that the insulin-like growth factor (IGF) signaling pathway plays a critical role in ASD pathogenesis; however, the precise pathogenic mechanisms remain elusive. This study utilizes multi-omics approaches to investigate the pathogenic mechanisms of ASD susceptibility genes within the IGF pathway. Whole-exome sequencing (WES) revealed a significant enrichment of rare variants in key IGF signaling components, particularly the IGF receptor 1 (IGF1R), in a cohort of Chinese Han individuals diagnosed with ASD, as well as in ASD patients from the SFARI SPARK WES database. Subsequent single-cell RNA sequencing (scRNA-seq) of cortical tissues from children with ASD demonstrated elevated expression of IGF receptors in parvalbumin (PV) interneurons, suggesting a substantial impact on their development. Notably, IGF1R appears to mediate the effects of IGF2R on these neurons. Additionally, transcriptomic analysis of brain organoids derived from ASD patients indicated a significant association between IGF1R and ASD. Protein-protein interaction (PPI) and gene regulatory network (GRN) analyses further identified ASD susceptibility genes that interact with and regulate IGF1R expression. In conclusion, IGF1R emerges as a central node within the IGF signaling pathway, representing a potential common pathogenic mechanism and therapeutic target for ASD. These findings highlight the need for further investigation into the modulation of this pathway as a strategy for ASD intervention.

Lien vers le texte intégral (Open Access ou abonnement)