1. Bedford R, Green J, Gliga T, Jones EH, Elsabbagh M, Pasco G, Wan MW, Slonims V, Charman T, Pickles A, Johnson MH. Parent-mediated intervention in infants with an elevated likelihood for autism reduces dwell time during a gaze-following task. Autism Res;2024 (Aug 28)

Cognitive markers may in theory be more sensitive to the effects of intervention than overt behavioral measures. The current study tests the impact of the Intervention with the British Autism Study of Infant Siblings-Video Interaction for Promoting Positive Parenting (iBASIS-VIPP) on an eye-tracking measure of social attention: dwell time to the referred object in a gaze following task. The original two-site, two-arm, assessor-blinded randomized controlled trial (RCT) of this intervention to increase parental awareness, and responsiveness to their infant, was run with infants who have an elevated familial likelihood for autism (EL). Fifty-four EL infants (28 iBASIS-VIPP intervention, 26 no intervention) were enrolled, and the intervention took place between 9 months (baseline) and 15 months (endpoint), with gaze following behavior measured at 15 months. Secondary intention to treat (ITT) analysis showed that the intervention was associated with significantly reduced dwell time to the referent of another person’s gaze (β = -0.32, SE = 0.14, p = 0.03) at 15-month treatment endpoint. Given the established link between gaze following and language, the results are considered in the context of a previously reported, non-significant and transient trend toward lower language scores at the treatment endpoint (Green et al. (2015) The Lancet Psychiatry, 2(2), 133-140). Future intervention trials should aim to include experimental cognitive measures, alongside behavioral measures, to investigate mechanisms associated with intervention effects.

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2. Boukens BJ, Verkerk AO, Bezzina CR. Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome. Nat Cardiovasc Res;2024 (Jan);3(1):18-20.

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3. Camussi D, Naef V, Brogi L, Della Vecchia S, Marchese M, Nicoletti F, Santorelli FM, Licitra R. Delving into the Complexity of Valproate-Induced Autism Spectrum Disorder: The Use of Zebrafish Models. Cells;2024 (Aug 14);13(16)

Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental condition with several identified risk factors, both genetic and non-genetic. Among these, prenatal exposure to valproic acid (VPA) has been extensively associated with the development of the disorder. The zebrafish, a cost- and time-effective model, is useful for studying ASD features. Using validated VPA-induced ASD zebrafish models, we aimed to provide new insights into VPA exposure effects during embryonic development and to identify new potential biomarkers associated with ASD-like features. Dose-response analyses were performed in vivo to study larval phenotypes and mechanisms underlying neuroinflammation, mitochondrial dysfunction, oxidative stress, microglial cell status, and motor behaviour. Wild-type and transgenic Tg(mpeg1:EGFP) zebrafish were water-exposed to VPA doses (5 to 500 µM) from 6 to 120 h post-fertilisation (hpf). Embryos and larvae were monitored daily to assess survival and hatching rates, and numerous analyses and tests were conducted from 24 to 120 hpf. VPA doses higher than 50 µM worsened survival and hatching rates, while doses of 25 µM or more altered morphology, microglial status, and larval behaviours. VPA 50 µM also affected mRNA expression of inflammatory cytokines and neurogenesis-related genes, mitochondrial respiration, and reactive oxygen species accumulation. The study confirmed that VPA alters brain homeostasis, synaptic interconnections, and neurogenesis-related signalling pathways, contributing to ASD aetiopathogenesis. Further studies are essential to identify novel ASD biomarkers for developing new drug targets and tailored therapeutic interventions for ASD.

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4. Cerda-Aedo B. Relationship between stress levels and coping techniques in caregivers of children with autism spectrum disorder in Chile, 2021. Dement Neuropsychol;2024;18:e20220112.

Today, talking about autism spectrum disorder (ASD) is the same as talking about cases that occur in one in 160 births worldwide. Some of them will be able to live independently when they grow up while others will have less autonomy and will be more dependent, requiring the support of caregivers throughout their lives. OBJECTIVE: Understanding the emotional burden that this could generate on parents, we sought to analyze the level of stress and coping techniques in caregivers of children with ASD in Chile, 2021. METHODS: Interview with a sample composed of 61 parents or guardians of people with ASD. RESULTS: After data analysis, it was possible to perform a statistically significant correlation (p=0.002) between the level of stress and the coping strategies (problem-solving, self-criticism, emotional expression, wishful thinking, social support, cognitive restructuring, problem avoidance, and social withdrawal). In addition, positive strategies that reduce stress levels in parents or caregivers of children with ASD were identified (problem resolution, cognitive restructuring, social support, and emotional expression). CONCLUSION: Through this research, it was possible to respond to each of the stated objectives, managing to determine what were the characteristics of caregivers and their main difficulties. It was also observed that the majority lost the possibility of working to dedicate themselves to the care of the diagnosed person.

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5. Chun LY, Tanenbaum RE, Liao C, Rodriguez SH. The association between developmental delay and endophthalmitis after pediatric cataract surgery using an insurance claims database. J aapos;2023 (Dec);27(6):331.e331-331.e336.

PURPOSE: To evaluate risk factors for postoperative endophthalmitis in pediatric cataract surgery based on an analysis of a large insurance claims database. METHODS: We retrospectively analyzed pediatric (0-18 years) cataract surgeries from the IBM MarketScan Research Database from 2004 to 2017. Suspect cases of endophthalmitis were identified by International Classification of Diseases codes; confirmed cases, by Current Procedural Terminology codes within 7 days of diagnosis. Odds ratios (OR) were assessed for age, sex, aphakia, concomitant vitrectomy, open-globe injury, uveitis, lens displacement, developmental delay, trisomy 21, and immunocompromised status. RESULTS: Among 5,304 eyes of 6,835 patients, the following were factors significantly associated with pediatric cataract surgery-related suspect endophthalmitis: open-globe injury (OR = 7.75; 95% CI, 3.32-18.09; P < 0.001), ocular trauma (OR = 3.64; 95% CI, 1.83-7.24; P < 0.001), aphakia (OR = 2.33, CI 1.15-4.69, P = 0.018), and developmental delay (OR = 4.24, 95% CI, 1.00-18.02; P = 0.05). With univariate analysis of confirmed endophthalmitis cases, the following were identified as statistically significant: open-globe injury (OR = 8.1; 95% CI, 2.64-24.87; P < 0.001), ocular trauma (OR = 4.34, CI 1.72-10.97; P = 0.002), subluxated or dislocated lens (OR = 3.62; 95% CI, 1.04-12.57; P = 0.043), aphakia (OR = 2.86; 95% CI, 1.13-7.26; P = 0.027), and developmental delay (OR = 8.24; 95% CI, 1.86-36.44; P = 0.005). Age, sex, concomitant vitrectomy, and uveitis were not associated with increased risk of endophthalmitis. CONCLUSIONS: Developmental delay may be a risk factor for postoperative endophthalmitis in pediatric cataract surgery. Surgeons can assess preoperative risk by performing a detailed medical and social history for challenges particular to this population that may complicate the postoperative course.

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6. Davis DW, Jawad K, Feygin YB, Stevenson M, Wattles B, Jones VF, Porter J, Lohr WD, Le J. The Relationships Among Neighborhood Disadvantage, Mental Health and Developmental Disabilities Diagnoses, and Race/Ethnicity in a U.S. Urban Location. Child Psychiatry Hum Dev;2024 (Aug 27)

Childhood health disparities by race have been found. Neighborhood disadvantage, which may result from racism, may impact outcomes. The aim of the study is to describe the distribution of mental health (MH) and developmental disabilities (DD) diagnosis across Child Opportunity Index (COI) levels by race/ethnicity. A cross-sectional study using 2022 outpatient visit data for children < 18 years living in the Louisville Metropolitan Area (n = 115,738) was conducted. Multivariable logistic regression analyses examined the association between diagnoses and COI levels, controlling for sex and age. Almost 18,000 children (15.5%) had a MH or DD (7,905 [6.8%]) diagnosis. In each COI level, the prevalence of MH diagnosis was lower for non-Hispanic (N-H) Black than for N-H White children. In adjusted analyses, there were no significant associations between diagnoses and COI for non-White children for MH or DD diagnoses. The odds of receiving a MH [OR: 1.74 (95% CI: 1.62, 1.87)] and DD [OR: 1.69 (95% CI: 1.51, 1.88)] diagnosis were higher among N-H White children living in Very Low compared to Very High COI areas. Current findings suggest that COI does not explain disparities in diagnosis for non-White children. More research is needed to identify potential multi-level drivers such as other forms of racism. Identifying programs, policies, and interventions to reduce childhood poverty and link children and families to affordable, family-centered, quality community mental and physical health resources is needed to ensure that families can build trusting relationships with the providers while minimizing stigma.

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7. El-Ansary A, Alfawaz HA, Ben Bacha A, Al-Ayadhi L. Assessing the COX-2/PGE2 Ratio and Anti-Nucleosome Autoantibodies as Biomarkers of Autism Spectrum Disorders: Using Combined ROC Curves to Improve Diagnostic Values. Curr Issues Mol Biol;2024 (Aug 8);46(8):8699-8709.

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by restricted and repetitive behaviors as well as difficulties with social interaction. Numerous studies have revealed aberrant lipid mediators and autoimmunity as a recognized etiological cause of ASD that is amenable to therapeutic intervention. In this study, the relationship between the relative cyclooxygenase-2/prostaglandin E2 ratio (COX-2/PGE2) as a lipid mediator marker and anti-nucleosome autoantibodies as an autoimmunity marker of ASD was investigated using multiple regression and combined receiver operating characteristic (ROC) curve analyses. The study also sought to identify the linear combination of these variables that optimizes the partial area under the ROC curves. There were forty ASD children and forty-two age- and gender-matched controls included in the current study. Using combined ROC curve analysis, a notable increase in the area under the curve was seen in the patient group, using the control group as a reference group. Additionally, it was reported that the combined markers had improved specificity and sensitivity. This study demonstrates how the predictive value of particular biomarkers associated with lipid metabolism and autoimmunity in children with ASD can be measured using a ROC curve analysis. This technique should help us better understand the etiological mechanism of ASD and how it may adversely affect cellular homeostasis, which is essential to maintaining healthy metabolic pathways. Early diagnosis and intervention may be facilitated by this knowledge.

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8. Fernandez M, Soyele A, Arenyeka T, Hashmi K, Mupedziswa R. Clinical Analysis for Diagnosing Autism in Children Under Two: A Case Report. Cureus;2024 (Aug);16(8):e67888.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with rising prevalence, necessitating early diagnosis and intervention. This case report examines the clinical diagnosis approach of ASD in children under two years, emphasizing motor developmental delay, chromosome 19 mutations, prematurity, macrocephaly, and false-negative Modified Checklist for Autism in Toddlers (MCHAT) results. This study identifies gross motor delays as a potential key indicator in the diagnosis of ASD, as all five cases (Patients A, B, C, D, and E) were observed to have such deficits. Two cases (Patients A and B) initially had negative MCHAT results but were later diagnosed with ASD. Patients C and E both had a chromosome 19 abnormality. Patient E had macrocephaly and an amino acid metabolism disorder. ASD atypical behaviors like hand flapping, wringing, and twirling were also noted. Our systematic review validated the key findings presented in this study, unveiling a consistent pattern throughout the existing literature about ASD diagnoses and the associated misconceptions. These cases highlight the significance of early motor delay, genetic factors, and the limitations of MCHAT in early ASD diagnosis. This case report underscores the need for improved screening tools, genetic investigations, and comprehensive assessments to enhance early detection and intervention for ASD. Early identification and personalized interventions hold a promise to improve the outcomes and quality of life for children with autism.

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9. Hull L, Mandy W, Belcher H, Petrides KV. Validation of the camouflaging autistic traits questionnaire short form (CATQ-SF). Compr Psychiatry;2024 (Aug 22);135:152525.

BACKGROUND: Camouflaging of autistic traits involves hiding or compensating for autistic characteristics, often due to stigma or a desire to fit in with others. This behaviour has been associated with mental health issues in autistic individuals. The 2 5-item Camouflaging Autistic Traits Questionnaire (CAT-Q) is the most commonly used self-report measure of camouflaging. In this study, a 9-item short form version was developed for use in clinical and research settings. AIMS: To construct and psychometrically validate a brief self-report measure of camouflaging. METHOD: The Camouflaging Autistic Traits Questionnaire – Short Form (CATQ-SF) was developed and its factor structure and psychometric properties were evaluated in two studies. Study 1 used a large, online sample of autistic and non-autistic adults (N = 832) to evaluate the factor structure, psychometric properties, and measurement invariance of the CATQ-SF. Study 2 used an independent sample of autistic and non-autistic adults (N = 80) to test Study 1’s findings. RESULTS: In Study 1, evidence for a three-factor structure was observed, with good internal consistency (combined autistic & non-autistic α = 0.84). In addition, the instrument demonstrated measurement invariance, and reliably predicted higher levels of autistic traits. In Study 2, the 3-factor structure was replicated, and good internal consistency was again observed (combined autistic and non-autistic α = 0.89). In both studies, psychometric properties were of similar or higher validity compared to the full-form CAT-Q. CONCLUSIONS: The CATQ-SF can be used by clinicians and researchers to measure camouflaging in autistic and non-autistic adults quickly and reliably.

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10. Meera SS, Srikar M, Raju R, Swaminathan D, Johnson RE, Watson LR, Nair DB, Kommu JVS, Chopra-McGowan J, Vasuki PP. Feasibility and acceptability of a caregiver-mediated early support program, delivered online, for infants at elevated familial likelihood for autism: A feasibility randomized controlled trial. Autism Res;2024 (Aug 28)

Preliminary evidence indicates potential benefit of providing caregiver-mediated intervention, prior to diagnosis, for infants at elevated familial likelihood for autism and related developmental delays including language delay (EL-A). However, delivering such interventions online and in low-resource settings like India has not been reported. This study aimed to evaluate the feasibility and acceptability of delivering a novel manualized caregiver-mediated early support program, the « LiL’ STEPS, » online in India, for EL-A infants. LiL’ STEPS stands for Language development & Intervention Lab’s (LiL’) Supporting Early social-communication and language by Promoting caregiver Sensitive responsiveness (STEPS). The program comprised 14 sessions with a focus on social-communication and language, conducted over 12-weeks using demonstration and video feedback. Families of 36 EL-A infants aged 9 to 15-months participated in this feasibility randomized controlled trial (RCT). Families were randomized in a 2:1 ratio (n = 24 LiL’ STEPS and n = 12 care as usual groups). Information on feasibility and acceptability was collated following a mixed methods approach from caregiver interviews, fidelity forms, session notes, and study register. Findings indicated the LiL’ STEPS study trial as feasible and acceptable with recruitment rate of 4 per month, 100% willingness for randomization, 8.3% attrition, and 3.03% loss of blinding. Interventionist and caregiver fidelity was maintained above 80%. Despite challenges like interruptions during sessions, 100% families found the program acceptable and satisfactory, 86% said they would recommend the program to others, and 71% preferred online modality. Caregivers’ perspectives on beneficial components and experience attending the program have been described. Accordingly, recommendations for future definitive RCTs have been presented.

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11. Mohammadkhani R, Salehi I, Safari S, Ghahremani R, Komaki A, Asaad Karimi S. Continuous exercise training rescues hippocampal long-term potentiation in the VPA rat model of Autism: Uncovering sex-specific effects. Neuroscience;2024 (Aug 28)

Long-term potentiation (LTP) impairment has been reported in many studies of autistic models. The aim of the present study was to investigate the effects of interval training (IT) and continuous training (CT) exercises on LTP in the hippocampal dentate gyrus (DG) neurons of valproic acid (VPA) rat model of autism. To induce an autism-like model, pregnant rats were injected 500 mg/kg NaVPA (intraperitoneal) on the embryonic day 12.5. IT and CT aerobic exercises started on postnatal day 56 in the offspring. Four weeks after IT and/or CT exercises, the offspring were urethane-anesthetized and placed into a stereotaxic apparatus for surgery, electrode implantation, and field potential recording. In the DG region, excitatory post synaptic potentials (EPSP) slope and population spike (PS) amplitude were measured. Sex differences in LTP were evident for control rats but not for VPA-exposed offspring. LTP was significantly smaller in VPA-exposed male offspring compared with control male rats. In contrast to males, there was no difference between VPA-exposed female offspring and control female rats. Interestingly, we observed a sex difference in the response to exercise between VPA-exposed male and female offspring. CT exercise training (but not IT) increased LTP in VPA-exposed male offspring. Both IT and CT exercise trainings had no effect on intact LTP in VPA-exposed female offspring. Our work suggests that there may be differences in the benefits of exercise interventions based on sex, and CT exercise training could be more beneficial for LTP improvements.

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12. Nezamuldeen L, Jafri MS. Boolean Modeling of Biological Network Applied to Protein-Protein Interaction Network of Autism Patients. Biology (Basel);2024 (Aug 10);13(8)

Cellular molecules interact with one another in a structured manner, defining a regulatory network topology that describes cellular mechanisms. Genetic mutations alter these networks’ pathways, generating complex disorders such as autism spectrum disorder (ASD). Boolean models have assisted in understanding biological system dynamics since Kauffman’s 1969 discovery, and various analytical tools for regulatory networks have been developed. This study examined the protein-protein interaction network created in our previous publication of four ASD patients using the SPIDDOR R package, a Boolean model-based method. The aim is to examine how patients’ genetic variations in INTS6L, USP9X, RSK4, FGF5, FLNA, SUMF1, and IDS affect mTOR and Wnt cell signaling convergence. The Boolean network analysis revealed abnormal activation levels of essential proteins such as β-catenin, MTORC1, RPS6, eIF4E, Cadherin, and SMAD. These proteins affect gene expression, translation, cell adhesion, shape, and migration. Patients 1 and 2 showed consistent patterns of increased β-catenin activity and decreased MTORC1, RPS6, and eIF4E activity. However, patient 2 had an independent decrease in Cadherin and SMAD activity due to the FLNA mutation. Patients 3 and 4 have an abnormal activation of the mTOR pathway, which includes the MTORC1, RPS6, and eIF4E genes. The shared mTOR pathway behavior in these patients is explained by a shared mutation in two closely related proteins (SUMF1 and IDS). Diverse activities in β-catenin, MTORC1, RPS6, eIF4E, Cadherin, and SMAD contributed to the reported phenotype in these individuals. Furthermore, it unveiled the potential therapeutic options that could be suggested to these individuals.

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13. Omelańczuk I, Pisula E. Are a Child’s Autistic Traits, Behavioural Difficulties, Prosocial Behaviour and Temperament Predictors of Parental Self-Efficacy and Satisfaction? A Study on Parents of Autistic and Neurotypical Children Aged 7-11 Years. J Autism Dev Disord;2024 (Aug 28)

The aim of the study was to evaluate the significance of the severity of autistic traits, behavioural difficulties, prosocial behaviour and temperamental characteristics in children for parental self-efficacy and parental satisfaction in two groups of parents: parents of autistic children, and parents of neurotypical children. Data come from 145 parents of autistic children and 239 parents of neurotypical children. Using hierarchical multiple regression analyses, the analysis explored the role of child characteristics in prediction of parental self-efficacy and parental satisfaction. The regression model tested explained 21% variation in parental self-efficacy and 27% variation in parental satisfaction in parents of autistic children and 3% of variation of results with respect to parental self-efficacy and 17% variation in parental satisfaction in parents of neurotypical children. In both groups, parental self-efficacy and parental satisfaction were negatively correlated with such child characteristics as severity of behavioural difficulties, severity of autistic traits and emotionality as also positively related to the child’s prosocial behaviour. These findings may suggest that particularly useful mental health prevention programs for parents should combine two elements: developing parents’ abilities of effectively coping with children’s behavioural difficulties and working on attribution processes and negative convictions about parenthood.

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14. Özel F, Stratmann M, Papadopoulos FC, Rüegg J, Bornehag CG. Gender-specific play behavior in relation to autistic traits and behavioral difficulties at the age of seven in the SELMA study. PLoS One;2024;19(8):e0308605.

BACKGROUND: Childhood gender nonconformity is related to psychological distress and behavioral difficulties. Similarly, there is evidence for a link between gender nonconformity, or gender dysphoria in some studies, and autism spectrum disorder and related traits. Our knowledge on those associations mostly originates from clinical populations, which might lead to overestimation. Thus, this study aimed to assess associations between gender nonconformity and behavioral difficulties in a population-based study. METHODS: In the Swedish Environmental Longitudinal, Mother and Child, Asthma and Allergy (SELMA) study, cross-sectional associations between gender-specific play behavior and behavioral outcomes and autistic traits were investigated among 718 children at 7-years of age. Play behavior was measured using the Preschool Activities Inventory; behavioral outcomes and autistic traits were measured with the Strengths and Difficulties Questionnaire and the Social Responsiveness Scale, respectively. Linear and logistic regression analyses were performed. RESULTS: Higher composite play behavior scores (indicating either increased masculine or decreased feminine play behavior) were associated with increased autistic trait scores in girls (β = 0.13; 95% confidence interval [CI] = 0.00, 0.26). Furthermore, higher composite scores were shown to be associated with behavioral difficulties in both girls (β = 0.11; 95% CI = 0.04, 0.18) and boys (β = 0.10; 95% CI = 0.02, 0.19). Additionally, higher feminine scores were related with increased problems in peer relationships in boys (β = 0.04; 95% CI = 0.00, 0.07). CONCLUSIONS: This study suggests a link between gender nonconforming play behavior and autistic traits as well as behavioral difficulties among children in a non-clinical population, which calls attention to the necessity of supporting children with gender nonconformity from early ages.

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15. Papadopoulos A, Tsapara A, Gryparis A, Tafiadis D, Trimmis N, Plotas P, Skapinakis P, Tzoufi M, Siafaka V. A Prospective Study of the Family Quality of Life, Illness Perceptions, and Coping in Mothers of Children Newly Diagnosed with Autism Spectrum Disorder and Communication Difficulties. Eur J Investig Health Psychol Educ;2024 (Aug 1);14(8):2187-2204.

(1) Background: This study assesses the impact of mothers’ illness perceptions about autism spectrum disorder and their coping strategies on the family’s quality of life during the initial period following diagnosis and one year afterward. (2) Method: The sample consisted of 53 mothers of children newly diagnosed with autism spectrum disorder and having communication difficulties who completed the following: the Beach Center Family Quality of Life Scale, the Brief Illness Perception Questionnaire, and the Brief-COPE. (3) Results: The findings revealed a moderate family quality of life in the initial assessment and a lack of a statistically significant change one year later. Notably, statistically significant changes were observed in coping strategies, as in the second assessment, and the score in denial and self-blame decreased. Pearson and Eta analyses indicated several correlations between socio-demographic characteristics, illness perceptions, coping strategies, and family quality of life. Multiple regression analysis showed that positive reframing was positively associated with total family quality of life in the initial period following diagnosis and one year afterward, while self-blame was associated with poorer quality of life in the time after diagnosis. Furthermore, the belief about the controllability of the disorder was correlated with better family quality of life one year after the diagnosis. (4) Conclusions: Illness perceptions and coping can be considered as predictors of family quality of life outcomes one year after the diagnosis of autism spectrum disorder. The focus of interventions, apart from controlling the disorder’s symptoms, should aim to strengthen specific strategies and weaken others.

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16. Plunk A, Weitlauf AS, Warren Z, Levin D, Sarkar N. Exploring the Intersection of Autism, Theory of Mind, and Driving Performance in Novice Drivers. J Autism Dev Disord;2024 (Aug 28)

This study explores the intersection of Theory of Mind (ToM) abilities and driving performance among novice drivers, with a focus on autistic individuals. The purpose is to investigate how ToM deficits may impact driving behaviors and decision-making, ultimately informing the development of tailored interventions and training programs for autistic drivers. We conducted a series of driving simulations using a custom-built driving simulator, capturing multimodal data including driving performance metrics, attention allocation, and physiological responses. Participants were categorized based on NEPSY scores, which assess ToM abilities, and self-reported autism spectrum disorder (ASD) diagnosis. Driving tasks were designed to simulate real-world scenarios, particularly focusing on intersections and merging, where ToM skills are crucial for safe navigation. Our analysis revealed differences in driving behaviors among participants with varying ToM abilities as determined through the NEPSY. Participants with lower NEPSY scores exhibited less smooth driving behaviors, increased risk-taking tendencies, and differences in attention allocation compared to those with higher scores. Alternatively, individuals with ASD displayed comparable driving patterns overall. ToM abilities influence driving behaviors and decision-making, particularly in complex social driving scenarios. Tailored interventions addressing ToM deficits and stress management could improve driving safety and accessibility for autistic individuals. This study underscores the importance of considering social cognitive factors in driving education and licensure pathways, aiming for greater inclusivity and accessibility in transportation systems.

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17. Sánchez Pedroche A, Valera-Pozo M, Mateus Moreno A, Lara Díaz MF, Aguilar-Mediavilla E, Adrover-Roig D. Is language impaired in Spanish-speaking children with autism spectrum disorder level 1?. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241275931.

The current diagnostic criteria for the autism spectrum disorder (ASD) include the possibility to specify concomitant language difficulties. PURPOSE: Our main aim was to explore whether children with ASD-Level 1 (ASD-L1) present difficulties in the acquisition of structural language, as little work has been done in this regard so far. As a secondary aim we evaluated the degree to which the potential language impairment in ASD is directly associated with their social communication deficits or it represents a distinct deficit. METHODS: To further clarify the nature and characteristics of putative language difficulties in ASD-L1, we evaluated language skills in 89 children and preadolescents diagnosed with ASD-L1, and a group of typically developing participants (TD). All of them were between 8 and 13 years old and had similar socioeconomic backgrounds. RESULTS: Children with ASD-L1 obtained lower scores than those in TD group in repeating sentences, in finding the semantic relationships between words, and in applying word structure rules (morphology). Congruently, the core language standard score was lower in the ASD-L1 group, and the proportion of language delay was significantly higher in the ASD-L1 group than in the control group. CONCLUSION: Language scores were associated with autistic traits; thus, language performance in ASD-L1 is closely related to autistic symptoms. These results are discussed according to the literature on linguistic deficits in ASD-L1 and their relations with phonological working memory.

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18. Shea L, Cooper D, Ventimiglia J, Frisbie S, Carlton C, Song W, Salzer M, Lee B, Hotez E, Vanness DJ. Self-Reported COVID-19 Vaccine and Booster Acceptance and Hesitancy Among Autistic Adults in Pennsylvania: Cross-Sectional Analysis of Survey Data. JMIR Public Health Surveill;2024 (Aug 28);10:e51054.

BACKGROUND: The autistic population is rapidly increasing; meanwhile, autistic adults face disproportionate risks for adverse COVID-19 outcomes. Limited research indicates that autistic individuals have been accepting of initial vaccination, but research has yet to document this population’s perceptions and acceptance of COVID-19 boosters. OBJECTIVE: This study aims to identify person-level and community characteristics associated with COVID-19 vaccination and booster acceptance among autistic adults, along with self-reported reasons for their stated preferences. Understanding this information is crucial in supporting this vulnerable population given evolving booster guidelines and the ending of the public health emergency for the COVID-19 pandemic. METHODS: Data are from a survey conducted in Pennsylvania from April 11 to September 12, 2022. Demographic characteristics, COVID-19 experiences, and COVID-19 vaccine decisions were compared across vaccination status groups. Chi-square analyses and 1-way ANOVA were conducted to test for significant differences. Vaccination reasons were ranked by frequency; co-occurrence was identified using phi coefficient correlation plots. RESULTS: Most autistic adults (193/266, 72.6%) intended to receive or received the vaccine and booster, 15% (40/266) did not receive or intend to receive any vaccine, and 12.4% (33/266) received or intended to receive the initial dose but were hesitant to accept booster doses. Reasons for vaccine acceptance or hesitancy varied by demographic factors and COVID-19 experiences. The most significant were previously contracting COVID-19, desire to access information about COVID-19, and discomfort with others not wearing a mask (all P=.001). County-level factors, including population density (P=.02) and percentage of the county that voted for President Biden (P=.001) were also significantly associated with differing vaccination acceptance levels. Reasons for accepting the initial COVID-19 vaccine differed among those who were or were not hesitant to accept a booster. Those who accepted a booster were more likely to endorse protecting others and trusting the vaccine as the basis for their acceptance, whereas those who were hesitant about the booster indicated that their initial vaccine acceptance came from encouragement from someone they trusted. Among the minority of those hesitant to any vaccination, believing that the vaccine was unsafe and would make them feel unwell were the most often reported reasons. CONCLUSIONS: Intention to receive or receiving the COVID-19 vaccination and booster was higher among autistic adults than the population that received vaccines in Pennsylvania. Autistic individuals who accepted vaccines prioritized protecting others, while autistic individuals who were vaccine hesitant had safety concerns about vaccines. These findings inform public health opportunities and strategies to further increase vaccination and booster rates among generally accepting autistic adults, to better support the already strained autism services and support system landscape. Vaccination uptake could be improved by leveraging passive information diffusion to combat vaccination misinformation among those not actively seeking COVID-19 information to better alleviate safety concerns.

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19. Singh J, Wilkins G, Goodman-Vincent E, Chishti S, Bonilla Guerrero R, Fiori F, Ameenpur S, McFadden L, Zahavi Z, Santosh P. Using Precision Medicine to Disentangle Genotype-Phenotype Relationships in Twins with Rett Syndrome: A Case Report. Curr Issues Mol Biol;2024 (Aug 2);46(8):8424-8440.

Rett syndrome (RTT) is a paediatric neurodevelopmental disorder spanning four developmental stages. This multi-system disorder offers a unique window to explore genotype-phenotype relationships in a disease model. However, genetic prognosticators of RTT have limited clinical value due to the disorder’s heterogeneity on multiple levels. This case report used a precision medicine approach to better understand the clinical phenotype of RTT twins with an identical pathogenic MECP2 mutation and discordant neurodevelopmental profiles. Targeted genotyping, objective physiological monitoring of heart rate variability (HRV) parameters, and clinical severity were assessed in a RTT twin pair (5 years 7 months old) with an identical pathogenic MECP2 mutation. Longitudinal assessment of autonomic HRV parameters was conducted using the Empatica E4 wristband device, and clinical severity was assessed using the RTT-anchored Clinical Global Impression Scale (RTT-CGI) and the Multi-System Profile of Symptoms Scale (MPSS). Genotype data revealed impaired BDNF function for twin A when compared to twin B. Twin A also had poorer autonomic health than twin B, as indicated by lower autonomic metrics (autonomic inflexibility). Hospitalisation, RTT-CGI-S, and MPSS subscale scores were used as measures of clinical severity, and these were worse in twin A. Treatment using buspirone shifted twin A from an inflexible to a flexible autonomic profile. This was mirrored in the MPSS scores, which showed a reduction in autonomic and cardiac symptoms following buspirone treatment. Our findings showed that a combination of a co-occurring rs6265 BDNF polymorphism, and worse autonomic and clinical profiles led to a poorer prognosis for twin A compared to twin B. Buspirone was able to shift a rigid autonomic profile to a more flexible one for twin A and thereby prevent cardiac and autonomic symptoms from worsening. The clinical profile for twin A represents a departure from the disorder trajectory typically observed in RTT and underscores the importance of wider genotype profiling and longitudinal objective physiological monitoring alongside measures of clinical symptoms and severity when assessing genotype-phenotype relationships in RTT patients with identical pathogenic mutations. A precision medicine approach that assesses genetic and physiological risk factors can be extended to other neurodevelopmental disorders to monitor risk when genotype-phenotype relationships are not so obvious.

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20. St John L, Borschneck G, Volpe T, Thakur A, Lake J, Mallet H, Pereira V, Lunsky Y. The impact of a virtual wellness course for adults with intellectual and developmental disabilities in the third year of COVID-19. J Intellect Disabil;2024 (Aug 28):17446295241272508.

The current study examines how a virtual wellness intervention may improve health outcomes in adults with intellectual and developmental disabilities. Thirty-six adults with intellectual and developmental disabilities participated in the wellness intervention. Outcome measures related to satisfaction, mental health, wellbeing, health behaviours and overall health were completed at three time points (pre, post and follow-up). Participants reported high levels of satisfaction and had significant improvements in outcomes related to mental health and wellbeing. Changes in sleep, sedentary behaviour and overall health were not reported, though qualitative evidence suggests that some changes were implemented. The study provides evidence to support the use of virtual interventions to address health concerns in individuals with intellectual and developmental disabilities.

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21. Vacas J, Antolí A, Sánchez-Raya A, Pérez-Dueñas C, Cuadrado F. Eye-Tracking Methodology to Detect Differences in Attention to Faces Between Developmental Language Disorder and Autism. J Speech Lang Hear Res;2024 (Aug 28):1-15.

PURPOSE: Developmental language disorder (DLD) and autism sometimes appear as overlapping conditions in behavioral tests. There is much literature on the visual scanning pattern (VSP) of faces in autistic children, but this is scarce regarding those with DLD. The purpose of this study was to compare the VSP of faces in young children with DLD, those with autism, and typically developing peers, assessing the effect of three variables. METHOD: Two eye-tracking experiments were designed to assess the effect of the emotion and the poser’s gender (Experiment 1) and the poser’s age (Experiment 2) on the VSP of participants (Experiment 1: N = 59, age range: 32-74 months; Experiment 2: N = 58, age range: 32-74 months). We operationalized the VSP in terms of attentional orientation, visual preference, and depth of processing of each sort of face. We developed two paired preference tasks in which pairs of images of faces showing different emotions were displayed simultaneously to compete for children’s attention. RESULTS: Data analysis revealed two VSP markers common to both disorders: (a) superficial processing of faces and (b) late orientation to angry and child faces. Moreover, one specific marker for each condition was also found: typical preference for child faces in children with DLD versus diminished preference for them in autistic children. CONCLUSIONS: Considering the similarities found between children with DLD and those with autism, difficulties of children with DLD in attention to faces have been systematically underestimated. Thus, more effort must be made to identify and respond to the needs of this population. Clinical practice may benefit from the potential of eye-tracking methodology and the analysis of the VSP to assess attention to faces in both conditions. This would also contribute to the improvement of early differential diagnosis in the long run.

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22. Zhang S, Zhou Y, Shen J, Wang Y, Xia J, Li C, Liu W, Hayat K, Qian M. Early-Life Exposure to 4-Hydroxy-4′-Isopropoxydiphenylsulfone Induces Behavioral Deficits Associated with Autism Spectrum Disorders in Mice. Environ Sci Technol;2024 (Aug 28)

Exposure to bisphenol A (BPA) during gestation and lactation is considered to be a potential risk factor for autism spectrum disorder (ASD) in both humans and animals. As a novel alternative to BPA, 4-hydroxy-4′-isopropoxydiphenylsulfone (BPSIP) is frequently detected in breast milk and placental barrier systems, suggesting potential transmission from the mother to offspring and increased risk of exposure. Gestation and lactation are critical periods for central nervous system development, which are vulnerable to certain environmental pollutants. Herein, we investigated the behavioral impacts and neurobiological effects of early-life exposure to BPSIP (0.02, 0.1, and 0.5 mg/kg body weight/day) in mice offspring. Behavioral studies indicated that BPSIP exposure induced ASD-like behaviors, including elevated anxiety-related behavior and decreased spatial memory, in both male and female pups. A distinct pattern of reduced social novelty was observed only in female offspring, accompanied by significant alterations in antioxidant levels. Transcriptome analysis demonstrated that differentially expressed genes (DEGs) were mainly enriched in pathways related to behaviors and neurodevelopment, which were consistent with the observed phenotype. Besides, a decrease in the protein levels of complex IV (COX IV) across all tested populations suggests a profound impact on mitochondrial function, potentially leading to abnormal energy metabolism in individuals with autism. Additionally, changes in synaptic proteins, evidenced by alterations in synapsin 1 (SYN1) and postsynaptic density protein-95 (PSD95) levels in the cerebellum and hippocampus, support the notion of synaptic involvement. These findings suggest that BPSIP may induce sex-specific neurotoxic effects that involve oxidative stress, energy generation, and synaptic plasticity.

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