Pubmed du 12/12/24

Pubmed du jour

1. Bernhard FB, Howell DM, Bray L. Developing Therapeutically Attuned Relationships with Autistic Children and Their Caregivers. Occup Ther Health Care. 2024: 1-28.

The purpose of this paper is to propose the Intentional and Attuned Therapeutic Relationship Model as a means to emphasize an intentional and attuned therapeutic relationship among the therapist, autistic child, and their caregiver. Neurodiversity-affirming practice is strengths-based, collaborative, and inclusive of the needs and goals of the autistic child and their caregiver. As this necessitates reevaluating occupational therapy models of care delivered to autistic children, this paper provides a brief review of sensory processing and emotional regulation; discusses the Intentional Relationship Model and the phenomenon of attunement, respectively; and proposes the Intentional and Attuned Therapeutic Relationship Model, which combines elements of the Intentional Relationship Model and attunement to develop the therapeutic relationship in alignment with the neurodiversity-affirming paradigm.

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2. Choi Y, Lee YJ, Joo HA, Kang WS, Ahn JH, Chung JW, Park HJ. Audiologic Outcomes After Cochlear Implantation in Prelingually Deaf Children Who Have Combined Anomalies or Disabilities. Otol Neurotol. 2025; 46(1): 72-9.

OBJECTIVE: To evaluate the audiologic outcomes after cochlear implantation (CI) in prelingually deaf children with comorbid disorders. STUDY DESIGN: Retrospective study. SETTING: Tertiary care academic center. PATIENTS: We enrolled 85 deaf children (111 ears) with comorbid disorders who underwent CI surgery. MAIN OUTCOMES AND MEASURES: We selected the most common comorbid disorder and compared the categories of auditory performance (CAP) scores of each comorbidity group with those of the control group. Combined cochlear anomalies were also evaluated using temporal bone computed tomography. RESULTS: The most common comorbid disorder was CHARGE syndrome (n = 17), followed by developmental delay (n = 13), valvular heart disease (including septal defect) (n = 13), Waardenburg syndrome (n = 8), Down syndrome (n = 6), cerebral palsy (n = 5), and cryptorchidism (n = 5). The CAP scores differed significantly between all the groups and the control group after 6 months (p < 0.001). The differences in the CHARGE syndrome (p = 0.004), cerebral palsy (p = 0.001), and Down syndrome (p = 0.004) groups remained significant 2 years after CI. When comparing the presence or absence of anomalies within the syndromic and nonsyndromic groups, significantly poorer outcomes exist when cochlear anomalies with absent modiolus or cochlear nerve deficits were observed, regardless of the presence of syndromic disorders. CONCLUSION: Compared with those in the control group, the CAP scores in the group with coexisting disabilities increased over time, but their final scores were relatively lower. Combined disabilities as well as the absent modiolus and cochlear nerve deficit may be clinical markers for poor CAP scores.

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3. Dada S, Dixon K, Akbari V, Grisdale CJ, Calli K, Martell S, Reisle C, Lillico-Ouachour A, Lewis MES, Jones SJM. Uncovering the complexity of structural variants in four individuals with Autism Spectrum Disorder. Genome. 2024.

Autism spectrum disorder (ASD) is an increasingly recognized childhood developmental disorder. Despite extensive study, causal variants and molecular diagnosis remain elusive. There is both heterogeneity of the phenotype, as well as the genetic landscape associated with phenotype, which includes both inherited and de-novo mutations. Currently, diagnosis is complex and behaviourally based, oftentimes occurring years after the ideal 1-2 years age. Structural variants (SVs) are large and sometimes complex genomic variants that are likely underrepresented contributors to ASD due to the limitations of short-read DNA sequencing, such as alignment in repetitive regions and regions with GC bias. Here, we performed long read sequencing (LRS) on four individuals with autism spectrum disorder to delineate SV complexity and determine precise breakpoints for SVs, which was not possible with short read sequencing (SRS). We use LRS to interrogate the methylation pattern associated with the SVs and phase the SV haplotypes to further clarify their contribution to disorder. LRS allows insight into the genome and methylome that allow us to uncover variant complexity and contribution that was previously unseen with SRS. Ultimately, this furthers precision diagnosis and contributes to individualized treatment for affected individuals and their families within the clinic.

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4. Delgado C. Autism service stops taking new patients amid 18 year wait for diagnosis. Bmj. 2024; 387: q2786.

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5. Fadlalmola HA, Abedelwahed HH, Hamid HI, Ali AB, Algadi HAA, Farg SJ, Ali NMA, Elbashir AA, Mohammed MH, Mohmmed SS, Mousa SA, Gaafar DA, Eltyeb AA. Effects of Massage on Self-regulatory Difficulties, Tactile and Oral Abnormalities, and Parenting Stress in Children with Autism Spectrum Disorder (ASD): A Systematic Review and Meta-analysis. Int J Ther Massage Bodywork. 2024; 17(4): 4-19.

BACKGROUND: The Centers for Disease Control and Prevention stated that about 1 in every 44 children between the ages of 4 and 8 years old had been identified with autism spectrum disorder (ASD). Complementary interventions such as massage are crucial for the improvement of the health outcomes of ASD patients, such as abnormal sensory response; Autism Behavior Checklist; parenting stress, self-regulatory difficulties, social, language, and communication abilities; tactile or oral abnormalities; Vineland daily living skills; Vineland socialization; Childhood Autism Rating Scale; Preschool Language Scale 5th Edition (PLS-5) auditory communication; and PLS-5 expressive communication. PURPOSE: We aim to systematically investigate the effects of different types of massage on self-regulatory difficulties, tactile and oral abnormalities, and parenting stress in children with ASD. METHODS: PubMed, Cochrane Library, Scopus, and Web of Science were scoured from their inception through November 15, 2022. Research comparing massage efficacy in children with ASD to other methods or a control group was included. For randomized controlled trials (RCTs), we utilized the Cochrane risk of bias tool; and for cohort studies, we used the tool developed by the National Institutes of Health. Meta-analysis was carried out with Review Manager 5.4. For our continuous data, we calculated the mean difference (MD) and 95% confidence interval (95% CI). RESULTS: We included 10 studies with a total number of 485 children with autism. Our analysis showed a significant decrease in the massage group regarding self-regulatory difficulties (MD = -9.15; 95% CI (-13.69 to -4.60), p < 0.0001). Also, the massage group showed a significant decrease in tactile or oral abnormalities compared with the control group (MD = -4.83; 95% CI (-7.86 to -1.80), p = 0.002). Moreover, parenting stress significantly decreased in the massage group compared to the control group (MD = -4.31; 95% CI (-7.02 to -1.61), p = 0.002). CONCLUSION: Qigong and traditional Thai massage improved self-regulatory difficulties and decreased tactile or oral abnormalities in children with autism. Moreover, they decreased parenting stress. However, we need more RCTs with larger sample sizes with high quality to assess the different types of massage effects on autistic children and produce more valid results. So, Qigong and traditional Thai massage could be used as a complement to educational and training interventions in children with autism.

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6. Ferrara R, Campagna G, Ricci P, Damato F, Ricci L, Iovino L, Marti F, Latina R, Simeoli R. Developmental Psychology and Healthcare Professions: Autism Knowledge Among Nurses: An Observational Study. Clin Pract. 2024; 14(6): 2693-704.

Background: One of the biggest limitations faced by autistic people is the lack of knowledge of their condition. Our study aims to evaluate and discuss the knowledge of autism among nurses, which is a social and health category often in close contact with autistic people. Objective: Given the limited exploration of awareness levels about autism among healthcare professionals, this study aims to investigate general and specific knowledge of autism within a group of nursing students enrolled in a master’s degree. Methods: A total of 66 nurses completed the questionnaire. Descriptive analyses were conducted on the results for the four subcomponents of the questionnaire: (i) general knowledge, (ii) symptomatology, (iii) screening and diagnosis, and (iv) intervention and treatment. A correlation analysis was performed between the participants’ demographic variables and questionnaire scores. Additionally, a multivariable logistic regression was conducted to analyze the association between the participants’ basic demographic characteristics and questionnaire scores. Results: Results showed a good percentage of correct answers in the « general knowledge » category. Furthermore, a good level of knowledge regarding the fact that ASD is a developmental disorder and a congenital disease also emerged. Conclusions: Regarding the knowledge of typical autism symptoms, participants answered most of the questions correctly. Correct answers decreased for questions related to screening and diagnosis. In particular, participants had limited knowledge of the DSM-5 and the timing of ASD diagnosis. Similar levels of knowledge were observed for the fourth category, « intervention and treatment ».

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7. González-Madrid E, Rangel-Ramírez MA, Opazo MC, Méndez L, Bohmwald K, Bueno SM, González PA, Kalergis AM, Riedel CA. Corrigendum: Gestational hypothyroxinemia induces ASD-like phenotypes in behavior, proinflammatory markers, and glutamatergic protein expression in mouse offspring of both sexes. Front Endocrinol (Lausanne). 2024; 15: 1527177.

[This corrects the article DOI: 10.3389/fendo.2024.1381180.].

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8. Grant A, Griffiths C, Williams K, Brown AE. « I felt belittled and ridiculed for being in pain »: An online survey of Autistic people’s experience of care for pregnancy loss (perinatal loss) in the United Kingdom(✰). Midwifery. 2024; 141: 104266.

BACKGROUND: Around 3 % of people are Autistic; women may be under-diagnosed. Autistic people report lack of staff understanding, stigma and environmental barriers to using midwifery services. It is not known if these issues are present in perinatal loss services. AIM: To understand Autistic people’s experiences of care for perinatal loss. METHODS: An online survey for Autistic adults in the United Kingdom who had been pregnant, using closed and open questions. Data were analysed descriptively, using Kruskal-Wallis tests and thematically. RESULTS: The majority of losses appeared to be early in pregnancy. Among 67 participants, over half (58.2 %, n = 39) always sought healthcare during a perinatal loss, but 28.4 % (n = 19) never accessed care. Of those who received healthcare (n = 48; 71.6 %), over half (n = 27; 56.3 %) did not know they were Autistic at the time, and just one person told health professionals that they were Autistic. Four participants identified instances where staff were supportive or kind, but the majority of experiences were negative, with reported issues focused on communication, the way support was provided, inadequate pain relief and the hospital environment. We generated one overarching theme: « trauma ». CONCLUSION: Autistic people from the UK identified significant Disability-related access issues with perinatal loss care in addition to issues reported by a general population. UK Perinatal loss services need urgent investment to be able to provide person-centred care to all. Staff supporting perinatal loss should receive neurodiversity-affirming Autism training and be aware that many Autistic people experiencing perinatal loss may not have or share a diagnosis.

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9. Guo X, Wang X, Zhou R, Cui D, Liu J, Gao L. Altered Temporospatial Variability of Dynamic Amplitude of Low-Frequency Fluctuation in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with altered brain activity. However, little is known about the integrated temporospatial variation of dynamic spontaneous brain activity in ASD. In the present study, resting-state functional magnetic resonance imaging data were analyzed for 105 ASD and 102 demographically-matched typically developmental controls (TC) children obtained from the Autism Brain Imaging Data Exchange database. Using the sliding-window approach, temporal, spatial, and temporospatial variability of dynamic amplitude of low-frequency fluctuation (tvALFF, svALFF, and tsvALFF) were calculated for each participant. Group-comparisons were further performed at global, network, and brain region levels to quantify differences between ASD and TC groups. The relationship between temporospatial dynamic amplitude of low-frequency fluctuation variation alterations and clinical symptoms of ASD was finally explored by a support vector regression model. Relative to TC, we found enhanced tvALFF in visual network (Vis), somatomotor network (SMT), and salience/ventral attention network (SVA) of ASD, and weakened tvALFF in dorsal attention network (DAN) of ASD. Besides, ASD showed decreased svALFF in Vis, SVA, and limbic network (Limbic), and increased svALFF in DAN and default mode network (DMN). Elevated tsvALFF was found in the Vis, SMT, and DMN of ASD. More importantly, the altered tsvALFF from the DMN can predict the symptom severity of ASD. These findings demonstrate altered temporospatial dynamics of the spontaneous brain activity in ASD and provide novel insights into the neural mechanism underlying ASD.

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10. Leeb RT, Danielson ML, Claussen AH, Robinson LR, Lebrun-Harris LA, Ghandour R, Bitsko RH, Katz SM, Kaminski JW, Brown J. Trends in Mental, Behavioral, and Developmental Disorders Among Children and Adolescents in the US, 2016-2021. Prev Chronic Dis. 2024; 21: E96.

INTRODUCTION: Childhood mental, behavioral, and developmental disorders (MBDD) are common and are associated with poor health and well-being. Monitoring the prevalence of MBDDs among children and factors that may influence health outcomes is important to understanding risk and promoting population health. METHOD: We examined trends in parent-reported lifetime MBDDs among children and associated health promotion and risk indicators from 2016 through 2021 by using data from the National Survey of Children’s Health. Estimates of prevalence and average annual percentage change were stratified by specific MBDDs and demographic characteristics (eg, sex, age, race and ethnicity). Children with any MBDDs versus none were compared overall and by MBDD subgroup on health care, family, and community indicators. RESULTS: From 2016 through 2021, MBDD prevalence among children aged 3 to 17 years increased from 25.3% to 27.7%; increases were specific to anxiety, depression, learning disability, developmental delay, and speech or language disorder. Unmet health care needs increased annually by an average of approximately 5% among children with MBDDs. Each year from 2016 to 2021, approximately 60% of children with MBDDs received mental or developmental services in the past 12 months. Each year, a higher percentage of parents of children with MBDDs compared with children without MBDDs reported poor mental health (14.7% MBDD, 5.7% no MBDD) and economic stress (21.6% MBDD, 11.5% no MBDD). CONCLUSION: Increasing prevalence of certain MBDDs and MBDD-associated indicators, before and during the COVID-19 pandemic, highlights the need for improved pediatric mental health training for health care providers, for prevention and intervention efforts, and for policies addressing economic stability and equitable access to mental health services.

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11. Loo KK, Yang SJ, Cheng JC. Autism Screening Using the Parent’s Observation of Social Interactions in a Large Integrated Healthcare System. J Pediatr. 2024; 278: 114434.

OBJECTIVE: To determine the accuracy of the Parent’s Observation of Social Interactions (POSI) when deployed for universal autism screening within a large healthcare network. STUDY DESIGN: Retrospective analysis of electronic health record data from children screened for autism spectrum disorder (ASD) using POSI at the 18- and 24- month pediatric well-child care (WCC) visits across Southern California Permanente Medical Group facilities throughout the 2022 calendar year. Data on ASD diagnoses placed in the electronic health record problem list were analyzed 1 year later (until the end of 2023) to calculate sensitivity, specificity, and positive/negative likelihood ratio (LR+ and LR-) values. RESULTS: At the 18-month WCC, 8014 of 30 375 children (26.4%) had elevated POSI scores of ≥3 (positive screen), and the sensitivity and specificity were 77.9% and 76.1%, respectively. At the 24-month WCC, 5988 children of 27 975 (21.4%) had positive POSI screens, and the sensitivity and specificity were 76.5% and 81.4%, respectively. The LR+ was 3.3 at 18 months and 4.2 at 24 months. The LR- was 0.29 at both the 18- and 24-month time points. CONCLUSIONS: The POSI screen for ASD had adequate sensitivity and specificity (both >76%) when systematically deployed in a primary care setting at 18- and 24-month WCC visits. Children diagnosed with ASD were 3.3 and 4.2 times more likely to have screened positive at 18 and 24 months, compared with children who were not diagnosed with ASD. Conversely, children not diagnosed with ASD were 3.4 times more likely to have screened negative than children with ASD at 18 and 24 months.

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12. Ma Z, Chang ZH, Zhou HX, Wang DM, Zhang XY. Association between autistic features and empathy in Chinese patients with chronic schizophrenia. J Neural Transm (Vienna). 2024.

OBJECTIVES: It is common for patients with schizophrenia to exhibit symptoms of autism. Both autism spectrum disorders and schizophrenia share similar patterns of empathy deficits. This study purposed to explore the association between autistic features and empathy in Chinese patients with chronic schizophrenia. METHODS: We enrolled 857 patients with chronic schizophrenia. The Positive and Negative Syndrome Scale (PANSS), Repeatable Battery for the Assessment of Neuropsychological 7 Status (RBANS), and Interpersonal Reactivity Index (IRI) were employed to assess the participants’ clinical symptoms, neurocognition, and empathy, respectively. The severity of autistic symptoms was assessed with the PANSS Autism Severity Scale (PAUSS), with PAUSS scores ≥ 30 were considered to have significant autistic features. RESULTS: 114 schizophrenia patients (13.3%) had autistic features. Compared to schizophrenia patients without autistic features, those with autistic features had more severe clinical symptoms, and poorer neurocognition and empathic abilities. Female sex and empathic concerns were independently associated with autistic features in patients with chronic schizophrenia. CONCLUSIONS: Our results suggest that autistic features tend to manifest quite commonly among patients with chronic schizophrenia. Empathy deficits are strongly associated with autistic features in patients with chronic schizophrenia, strengthening the view that autistic features may characterize a subgroup of schizophrenia patients.

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13. Martin AM, Huskins J, Paxton A, Nafiseh A, Ciccarelli MR, Keehn B, McNally Keehn R. Mixed Methods Analysis of Caregiver Satisfaction With the Early Autism Evaluation Hub System. J Patient Exp. 2024; 11: 23743735241305531.

Community-based methods for autism evaluation may be one solution for ameliorating delays in diagnosis, which are exacerbated for children from minoritized backgrounds. However, limited research has examined caregiver satisfaction with community-based models of autism evaluation. Thus, our objective was to use a mixed-methods approach to investigate caregiver satisfaction with their child’s autism evaluation conducted across a statewide system of primary care autism diagnosis. Results indicated overall high satisfaction and no significant differences were found between satisfaction total scores nor caregiver stress and any child/family demographic variables. Satisfaction and stress were also not related to autism diagnostic outcome, clinician diagnostic certainty, or diagnostic accuracy. Qualitative suggestions for evaluation improvement include more thorough explanation of diagnosis and service recommendations. Overall, our findings indicate high caregiver satisfaction with multiple dimensions of community-based autism evaluation in the primary care setting, suggesting this may be a feasible and sustainable model that caregivers find acceptable.

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14. Mi K, Xu R, Liu X. RFW captures species-level metagenomic functions by integrating genome annotation information. Cell Rep Methods. 2024; 4(12): 100932.

Functional profiling of whole-metagenome shotgun sequencing (WMS) enables our understanding of microbe-host interactions. We demonstrate microbial functional information loss by current annotation methods at both the taxon and community levels, particularly at lower read depths. To address information loss, we develop a framework, RFW (reference-based functional profile inference on WMS), that utilizes information from genome functional annotations and taxonomic profiles to infer microbial function abundances from WMS. Furthermore, we provide an algorithm for absolute abundance change quantification between groups as part of the RFW framework. By applying RFW to several datasets related to autism spectrum disorder and colorectal cancer, we show that RFW augments downstream analyses, such as differential microbial function identification and association analysis between microbial function and host phenotype. RFW is open source and freely available at https://github.com/Xingyinliu-Lab/RFW.

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15. Petinou K, Vogindroukas I, Christopoulou M. Autism Prevalence Information And Diagnosis Processes In Cyprus, Greece And Malta. Neuropsychiatr Dis Treat. 2024; 20: 2499-505.

The current paper follows the thematic review ‘Autism spectrum disorders without borders: prevalence and diagnosis across the globe’ aiming to highlight and familiarize readers with the challenges and heterogeneity related to the prevalence, and diagnostic processes of Autism Spectrum Disorders (ASD) from a cross-cultural and diverse geopolitical framework with a focus on Cyprus, Malta, and Greece. The study’s goal was twofold: (a) to document the prevalence and diagnostic processes in the aforementioned geographical areas and (b) to highlight similarities and differences in the prevalence and diagnostic process in ASD. The findings revealed similarities across all countries regarding the diagnostic tools implemented in ASD assessment tools and clinical observations. Some differences were observed in documenting prevalence rates due to methodological heterogeneity in the documentation procedures. Although preliminary, the current findings underscore the importance of research-driven investigations that can lead to larger-scale programs necessary for establishing policy-making and stakeholders’ involvement.

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16. Ristovska S, Gucev Z, Dukovska V. Neurodevelopment of Critical ILL Neonates at the Age of 12 Months. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2024; 45(3): 25-36.

Critically ill neonates who survive are often left with dire consequences. Cerebral palsy, other neurological and motor deficiencies, intellectual disability, and various degrees of cognitive and behavioral deficiencies all result from neonatal critical diseases. We investigated psychomotor development in 20 children with hypoxic-ischemic encephalopathy (HIE), and as newborns often have multiple comorbidities, the following as well: HIE with respiratory distress syndrome (RDS), infections, hypo and hyperglycemia and hypocalcemia. Socio-demographic, pregnancy and delivery data together with appropriate staging tools in determining the severity of HIE or RDS were utilized in this evaluation. In addition, a physical examination, Apgar score, blood gas analyses, biochemical, microbiological and ultrasound data were also part of this study. A child’s psychomotor development includes four main areas: motor skills, language, cognition, and social relationships. The Griffiths Mental Development Scale (GMDS) compares different developmental domains and enables early diagnosis of deficiencies and guidance for appropriate early intervention. Six children (30%) were diagnosed with cerebral palsy. GMDS showed that at the age of one year, 50% of the children had typical development, 5% had mild disability, 20% moderate disability and 25% had severe disability. The severity of HIE, Apgar score, weak muscle tone, seizures, disturbances in glucose homeostasis, comorbidities (sepsis, infection) statistically significantly impacted the outcome. Studies with a greater number of patients are needed to support these findings and enable early interventions to avoid severe consequences of critical illness neonates.

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17. Sun B, Calvert EI, Ye A, Mao H, Liu K, Wang RK, Wang XY, Wu ZL, Wei Z, Kong XJ. Interest paradigm for early identification of autism spectrum disorder: an analysis from electroencephalography combined with eye tracking. Front Neurosci. 2024; 18: 1502045.

INTRODUCTION: Early identification of Autism Spectrum Disorder (ASD) is critical for effective intervention. Restricted interests (RIs), a subset of repetitive behaviors, are a prominent but underutilized domain for early ASD diagnosis. This study aimed to identify objective biomarkers for ASD by integrating electroencephalography (EEG) and eye-tracking (ET) to analyze toddlers’ visual attention and cortical responses to RI versus neutral interest (NI) objects. METHODS: The study involved 59 toddlers aged 2-4 years, including 32 with ASD and 27 non-ASD controls. Participants underwent a 24-object passive viewing paradigm, featuring RI (e.g., transportation items) and NI objects (e.g., balloons). ET metrics (fixation time and pupil size) and EEG time-frequency (TF) power in theta (4-8 Hz) and alpha (8-13 Hz) bands were analyzed. Statistical methods included logistic regression models to assess the predictive potential of combined EEG and ET biomarkers. RESULTS: Toddlers with ASD exhibited significantly increased fixation times and pupil sizes for RI objects compared to NI objects, alongside distinct EEG patterns with elevated theta and reduced alpha power in occipital regions during RI stimuli. The multimodal logistic regression model, incorporating EEG and ET metrics, achieved an area under the curve (AUC) of 0.75, demonstrating robust predictive capability for ASD. DISCUSSION: This novel integration of ET and EEG metrics highlights the potential of RIs as diagnostic markers for ASD. The observed neural and attentional distinctions underscore the utility of multimodal biomarkers for early diagnosis and personalized intervention strategies. Future work should validate findings across broader age ranges and diverse populations.

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18. Tamarelli C, Im DS, Gregerson S, Schultz H. Using Case-Based Teaching: Does Our Dysregulated Hospitalized Patient Have Borderline Personality or Autism Spectrum Disorder?. Acad Psychiatry. 2024.

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19. Wang C, Tian H, Shang J. Examining the feasibility and limitations of AST-001 as a treatment for autism spectrum disorder. Psychiatry Clin Neurosci. 2024.

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