1. Alayadhi LY, Halepoto DM, Alhowikan AM, Elamin NE, Halepota AT. Low Plasma Levels of Contactin-Associated Protein-Like 2 in Children with Autism Spectrum Disorder: Links to Neural Development. Neuropsychiatr Dis Treat. 2024; 20: 2423-31.

BACKGROUND: Autism spectrum disorder (ASD) is a condition of atypical neurodevelopment and is characterized by social communication problems and repetitive patterns of behavior. Early diagnosis and intervention are decisive for managing symptoms and improving outcomes. Contactin-associated protein-like 2 (CNTNAP2) protein is implicated in neural development and plays a role in brain connectivity and synapse formation. Genetic research has shown a possible link between CNTNAP2 and ASD. AIM: We aimed to discover the blood plasma levels of CNTNAP2 in children with ASD and explore the potential association between CNTNAP2 concentrations and ASD severity. METHODOLOGY: This case-control study included children with ASD (n=40) and aged-matched healthy controls (n=40). Blood plasma levels of CNTNAP2 were measured using enzyme-linked immunosorbent assay (ELISA). The Children Autism Rating Scale (CARS) and Social Responsiveness Scale (SRS) were used to assess the severity of the ASD. Spearman correlation coefficient (r) was used to correlate the variables. RESULTS: Children with severe ASD had significantly lower CNTNAP2 levels (0.31 (0.14) ng/mL, p=0.003) compared to normal controls (0.47 (0.24) ng/mL). However, CNTNAP2 levels of children with mild autism (0.44(0.22), ng/mL, p=0.77) were not significantly different as compared to normal controls (0.47 (0.24) ng/mL). Furthermore, a significant difference was found between CNTNAP2 levels, by comparing the mild and severe groups based on the CARS (p= 0.05). Furthermore, no significant correlation between CNTNAP2 levels, and severity scores (CARS and SRS), was obtained. However, a significant correlation between CNTNAP2 and age was observed. CONCLUSION: The low CNTNAP2 plasma level in children with ASD indicated that it might be involved in the pathophysiology of ASD. Nevertheless, these results should be interpreted with care till more studies are achieved using a larger population to decide whether the reduction in CNTNAP2 plasma level is a mere outcome of ASD or it plays a pathogenic role in the disease.

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2. Allely CS, McKinnel T, Chisnall N. The contributory role of an autistic presentation to miscarriage of justice in a high-profile murder case in New Zealand. Psychiatr Psychol Law. 2024; 31(6): 1098-113.

In New Zealand in 1985, Mr Alan Hall was convicted of murdering Arthur Easton and spent more than 19 years in prison. He was finally acquitted by the Supreme Court in 2022. In 2019, Mr Hall was diagnosed with autism spectrum disorder (ASD). There are a number of aspects of Mr Hall’s investigative interviews conducted prior to his conviction in 1985 – the questions posed to him and his responses to these – which could be interpreted as being evidence of evasiveness, remorse, lack of empathy and guilt by both the investigating interviewer and the jury and judge when the evidence from this interview was later presented in court. This article discusses how the police approach to interviewing and Alan Hall’s ASD were the catalysts for a tainted investigation, prosecution and conviction. The Crown now accepts that a substantial miscarriage of justice occurred in Mr Hall’s case.

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3. Artis J, Nowell SW, Dubay M, Grzadzinski R, Thompson K, Choi E, Baranek GT, Watson LR. Early Language, Social Communication, and Autism Characteristics of Young Toddlers at Elevated Likelihood for Autism Identified by the First Years Inventory-Lite. Am J Speech Lang Pathol. 2024: 1-17.

PURPOSE: The purposes of this article were (a) to compare the developmental skills of toddlers whose scores on the First Years Inventory-Lite (FYI-Lite), an early screening tool, indicated an elevated likelihood of a later diagnosis of autism (ELA) to the developmental skills of toddlers at a lower likelihood of a later diagnosis of autism (LLA) and (b) to examine how autism characteristics are correlated with communication measures in toddlers at an ELA. METHOD: We assessed the language, social communication (SC) skills, and characteristics of autism demonstrated by 45 toddlers at an ELA and 37 toddlers at an LLA between the ages of 11 and 18 months and compared group scores on these measures. We also examined the correlations between the characteristics of autism and language measures within the ELA group. RESULTS: Toddlers at an ELA demonstrated lower scores on measures of global expressive and receptive language, receptive vocabulary, gestures, and response to joint attention bids as well as SC characteristics of autism when compared to those demonstrated by toddlers at an LLA. There were no significant differences between groups on expressive vocabulary, language profiles (i.e., the relationship between receptive and expressive scores), or restrictive and repetitive behaviors. Within the ELA group, the SC characteristics of autism were significantly associated with their global receptive and expressive language skills. CONCLUSIONS: On the basis of the FYI-Lite screening tool, toddlers at an ELA are demonstrating delays in language and SC skills when compared to toddlers identified with an LLA. For toddlers at an ELA, the SC characteristics of autism are significantly associated with early language skills. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27969444.

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4. Balbuena Madera MA, Garcia Garcia JF, Vargas Cruz A, Aquino Bruno H, González Jasso JG. Paradoxical Infarction? Inferior STEMI With Unexpected Discovery of ASD in an Oncology Patient: A Case of Combined Percutaneous Intervention. Clin Case Rep. 2024; 12(12): e9569.

This case report explores the management of a 56-year-old female oncology patient presenting with acute ST-elevation myocardial infarction (STEMI) and an incidental atrial septal defect (ASD). The patient, with a history of rectal cancer and hypothyroidism, experienced acute chest pain and dyspnea. She was diagnosed with an inferior STEMI and underwent percutaneous coronary intervention (PCI) with the placement of three medicated stents in the right coronary artery. During hospitalization, an echocardiogram revealed a significant ostium secundum ASD. Angiography indicated thrombi, suggesting a potential paradoxical embolism. Percutaneous ASD closure was performed during the same hospital stay, leading to a favorable clinical course without immediate complications. This case highlights the importance of a multidisciplinary approach and comprehensive evaluation in managing complex cardiovascular conditions, particularly in patients with increased thrombotic risk due to malignancy.

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5. Bazrafshan Z, Mohammadi P, Hasanzadeh A, Sanjari Moghaddam M, Kabiri M, Sanjari Moghaddam H, Abdolghaffari AH, Mohammadi MR, Akhondzadeh S. Metformin efficacy and safety as an adjunctive treatment for irritability in children with autism spectrum disorder: A randomized, double-blind, placebo-controlled trial. J Psychopharmacol. 2024: 2698811241303593.

BACKGROUND: Antidiabetic medications have shown efficacy in alleviating autism symptoms. However, there is a lack of clinical research on the impact of metformin on irritability associated with autism. This study aimed to assess the efficacy and safety of metformin as an adjuvant therapy with risperidone for managing irritability in children diagnosed with Autism Spectrum Disorder (ASD). METHODS: This is a randomized, 10-week, double-blind, placebo-controlled trial conducted at the children’s autism clinic of Roozbeh Hospital (Tehran, Iran) from March 2024 to May 2024. Participants were divided into two groups of risperidone plus metformin (500 mg per day) and risperidone plus placebo and were assessed at baseline, weeks 5 and 10 with the aberrant behavior checklist-community scale (ABC-C). RESULTS: A total of 55 patients were included in the final analysis. Irritability (primary outcome measure) sharply decreased in the metformin compared to the placebo group (p = 0.008). Among the other four subscales of ABC-C, the hyperactivity/noncompliance score showed a significant drop during the baseline-to-week-5 period (p = 0.021). In addition, inappropriate speech subscales decreased significantly from baseline-to-week 5 in the metformin compared to the placebo group (p = 0.045). No other significant finding was observed among ABC-C scores for lethargy/social withdrawal or stereotypic behavior subscales. CONCLUSION: Metformin demonstrated promising results in reducing irritability in ASD patients, which is in concordance with previous studies. However, further studies are required before any broad clinical recommendation.

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6. Bejarano-Martín Á, Casado-Vara R, Magán-Maganto M, Díez E, Jenaro C, Flores N, Orrantia J, Canal-Bedia R. Early numerical skills and mathematical domains in autistic students in primary school. Front Psychiatry. 2024; 15: 1509137.

INTRODUCTION: It is crucial to provide a quality educational response to the needs of autistic children across various mathematical domains. However, there is no consensus on which of the early skills have the greatest predictive effect in the short and long term within these domains. Therefore, this research aimed to a) compare early numerical skills and mathematics domains, and 2) analyze the predictive value of early numerical skills into mathematics domains. METHODS: Forty-two children (twenty-one autistic children and twenty-one non-autistic children) aged 6-12 years participated in the study. Three areas were evaluated through different tasks: 1) control tasks: reading, impulse control and manual speed, 2) early numerical skills: counting, verbal subitizing, magnitude comparison and estimation, and 3) mathematical domains: arithmetic calculation and arithmetic word problems. RESULTS: Significant differences were found in subitizing and estimation tasks. Both groups showed similar mathematical skills in arithmetic calculation and arithmetic word problems. For autistic students, several non-symbolic tasks predict performance in mathematical domains, whereas for non-autistic students, symbolic tasks were predictors. DISCUSSION: Although mathematics does not seem to be an area of concern for autistic children, future studies should explore early numerical and mathematical domains in children with cognitive support needs through longitudinal research.

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7. Bottema-Beutel K, Guo R, Braun C, Dunham-Carr K, Markfeld JE, Pulliam G, Clark SM, Keçeli-Kaysılı B, Feldman JI, Woynaroski T. Considerations for Measuring Caregiver Talk in Interactions With Infants at Elevated and Population-Level Likelihood for Autism: Deriving Stable Estimates. J Speech Lang Hear Res. 2024: 1-14.

PURPOSE: This study aims to help researchers design observational measurement systems that yield sufficiently stable scores for estimating caregiver talk among caregivers of infant siblings of autistic and non-autistic children. Stable estimates minimize error introduced by facets of the measurement system, such as variability between coders or measurement sessions. METHOD: Analyses of variance were used to partition error variance between coder and session and to derive g coefficients. Decision studies determined the number of sessions and coders over which scores must be averaged to achieve sufficiently stable g coefficients (0.80). Twelve infants at elevated likelihood of an autism diagnosis and 12 infants with population-level likelihood of autism diagnosis participated in two semistructured observation sessions when the children were 12-18 months of age and again 9 months later. Caregiver follow-in talk was coded from these sessions. RESULTS: Two sessions and one coder were needed to achieve sufficient stability for follow-in talk and follow-in comments for both groups of infants at both time points. However, follow-in directives did not reach sufficient stability for any combination of sessions or coders for the population-level likelihood group at either time point, or for the elevated likelihood group at Time 2. CONCLUSION: Researchers should plan to collect at least two sessions to derive sufficiently stable estimates of caregiver talk in infants at elevated and general population-level likelihood for autism. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27996875.

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8. Carli E, Miceli M, Romilio S, Pardossi F, Giuca MR, Izzetti R. Effects of oral hygiene motivation strategies in paediatric patients with autism. Eur J Paediatr Dent. 2024: 1.

AIM: This study assessed the effectiveness of technological aids (video modelling) versus verbal and demonstrative motivation for improving oral hygiene in paediatric patients with autism spectrum disorder (ASD). MATERIALS: Consecutive patients with ASD were enrolled. Data on brushing frequency, snack intake frequency, plaque index, gum index, and Frankl scale were collected at baseline. After a tooth scaling session, patients were randomly assigned to two groups: Group 1 (G1) received live brushing instructions, while Group 2 (G2) received an oral hygiene motivation video via email, created using the video modelling strategy. A follow-up evaluation was conducted after three months, with all parameters measured again for comparison. CONCLUSION: Video modelling is an effective tool for motivating oral hygiene in patients with ASD, demonstrated by significant improvements in most measured parameters for the video modelling group.

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9. Centanni TM, Gunderson LPK, Parra M. Use of a predictor cue during a speech sound discrimination task in a Cntnap2 knockout rat model of autism. bioRxiv. 2024.

Autism is a common neurodevelopmental disorder that despite its complex etiology, is marked by deficits in prediction that manifest in a variety of domains including social interactions, communication, and movement. The tendency of individuals with autism to focus on predictable schedules and interests that contain patterns and rules highlights the likely involvement of the cerebellum in this disorder. One candidate-autism gene is contact in associated protein 2 (CNTNAP2), and variants in this gene are associated with sensory deficits and anatomical differences. It is unknown, however, whether this gene directly impacts the brain’s ability to make and evaluate predictions about future events. The current study was designed to answer this question by training a genetic knockout rat on a rapid speech sound discrimination task. Rats with Cntnap2 knockout (KO) and their littermate wildtype controls (WT) were trained on a validated rapid speech sound discrimination task that contained unpredictable and predictable targets. We found that although both genotype groups learned the task in both unpredictable and predictable conditions, the KO rats responded more often to distractors during training as well as to the target sound during the predictable testing conditions compared to the WT group. There were only minor effects of sex on performance and only in the unpredictable condition. The current results provide preliminary evidence that removal of this candidate-autism gene may interfere with the learning of unpredictable scenarios and enhance reliance on predictability. Future research is needed to probe the neural anatomy and function that drives this effect.

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10. Clarke E, Singer H, Schiltz H, Lord C. Autism at 30: Conceptualizations for adult research and clinical practice. Am Psychol. 2024.

Autism spectrum disorder is one of the most common neurodevelopmental conditions diagnosed in children. Most autism research, intervention, and policy focus exclusively on this condition in childhood, but autism often persists across the life course. This narrative review leverages data from 115 participants first diagnosed with autism between ages 2 and 3 years and subsequently followed for 3 decades (M(age) = 30.93 years, SD = 3.41) to highlight key aspects of adult life and experiences for autistic individuals identified in early childhood. Compared to other autism samples, the participants described here are relatively diverse: 20% are Black or mixed race; 13% are female; 43% reside in Census-designated rural locations; and 37% have a primary caregiver without a college degree. Fifty participants have average cognitive abilities (mean intellectual quotient [m(IQ)] = 98.8, SD = 19.3) and are verbally fluent; the remaining 65 have an intellectual disability (m(IQ) = 28.5, SD = 17.7) and/or are minimally verbal. In some ways, the adult experiences of autistic individuals are quite distinct from those of the general population, but important similarities exist also, particularly related to quality of life. As the number of autistic adults continues to rise, and increasing numbers of autistic adults seek out clinical and community services, high-quality research and clinical services focused on this population should be a priority for psychological science and practice. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

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11. Grant A, Williams GL, Axbey H, Wilkins A, Firth E, Lim H, Cave H, Williams K, Ribbons K, Sinfield M, Craine M, Caemawr S, Holloway W, Brown A, Nicolaidis C, Kara H, Ellis R. Participatory longitudinal qualitative interview study to understand Autistic gynaecological and obstetric health: the Autism from menstruation to menopause study protocol. BMJ Open. 2024; 14(12): e088343.

INTRODUCTION: Autism is a lifelong minority neurotype present from birth. There is a dearth of credible evidence to suggest gender variation in Autism prevalence, despite historical under-diagnosis of women. Autistic people Assigned Female At Birth (AFAB) have worse physical and mental health compared with non-Autistic peers. To date, the reproductive health experiences of Autistic AFAB people have been under-investigated. METHODS AND ANALYSIS: This study aims to co-develop a quality improvement intervention to improve the reproductive health of Autistic people. The study uses Community Partnered Participatory Research (an approach similar to Community-Based Participatory Research), largely through a Community Council that co-governs the study. To understand reproductive health needs, a longitudinal qualitative investigation using creative methods will be undertaken with 100 Autistic AFAB people with 10 waves of data collection over 5 years (interview n=500-1000). Participants will be purposively selected to include harder-to-reach members of the Autistic community, including those who are non-speaking or semi-speaking, have a learning disability and those from marginalised ethnicities. Data will be analysed thematically with Community Council involvement. Intervention development will be undertaken from 2029 onwards. ETHICS AND DISSEMINATION: We are an Autistic-led team that adopts a social model of disability. However, this study raises ethical issues relating to sensitive topics and marginalised populations. Accordingly, we have robust procedures in place to assess capacity to ensure informed consent and to allow participants to take part without opting into data sharing. Ethical approval has been awarded by the Swansea University School of Health and Social Care Research Ethics Committee. We will publish our findings as open access articles in peer-reviewed journals.

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12. Hennig J, Doose A, Breier CM, Soutschek A, Beyer N, Schweinberger S, Kamp-Becker I, Poustka L, Albertowski K, Roessner V, Ehrlich S. Disentangling the perceptual underpinnings of autism: Evidence from a face aftereffects experiment. Autism Res. 2024.

Existing literature has documented diminished norm-based adaptation (aftereffects) across several perceptual domains in autism. However, the exact underlying mechanisms, such as sensory dominance possibly caused by imprecise priors and/or increased sensory precision, remain elusive. The « Bayesian brain » framework offers refined methods to investigate these mechanisms. This study utilized both model-free (frequentist statistics) and model-based (hierarchical Drift Diffusion Modeling) analytical approaches to compare gender face aftereffects in male adolescents with autism (n = 29) to neurotypical controls (n = 39) using a behavioral choice experiment. Contrary to our initial hypotheses, our analyses did not find support for imprecise priors or increased sensory precision within the autistic group. Instead, we observed generally decreased drift rates towards male but not female stimuli in the autistic group. Thus, our findings suggest a lack of own-gender bias in face processing among the autistic participants. These findings align with more recent behavioral and neurophysiological research observing intact priors in individuals with autism, suggesting that other mechanisms may better explain the perceptual challenges in autism. Our study contributes to the ongoing discourse on perceptual processing in autism, emphasizing the necessity for more nuanced analytical approaches in order to unravel the complexity of this condition.

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13. Herdi O, Yildirim F. Erratum: Sex-Specific Correlations Between Misophonia Symptoms and ADHD, OCD, and Autism-Related Traits in Adolescent Outpatients. Noro Psikiyatr Ars. 2024; 61(4): 384.

[This corrects the article on p. 248 in vol. 61.].

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14. Karadağ M, Turgut FS, Çiftçi Z, Hangül Z, Taysi S. Comparison of Serum USP9x and TGF-β Levels in Children with Autism Spectrum Disorders with Healthy Controls. Noro Psikiyatr Ars. 2024; 61(4): 306-12.

INTRODUCTION: USP9X has been associated with neurodevelopmental disorders due to its role in synaptic development and neural function. This study aimed to compare USP9X and TGF-β levels in children with autism and healthy controls, and explore their relationship with autism severity. METHODS: Serum USP9X and TGF-β levels were measured in 41 healthy control children (aged 3-12 years) and 41 children with autism. RESULTS: Our study revealed a significant increase in USP9X levels (p=0.001) among children with autism compared to controls. However, TGF-β levels showed no significant difference between the two groups. Furthermore, we observed a positive correlation between difficulty in making eye contact subscale and blood levels of both USP9X and TGF-β. CONCLUSIONS: This study is the first to compare serum USP9X levels in children with autism to healthy controls. Our findings suggest USP9X’s potential role in autism development, emphasizing the need for further research on its involvement in neurodevelopmental processes.

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15. Kostyanovskaya E, Lasser MC, Wang B, Schmidt J, Bader E, Buteo C, Arbelaez J, Sindledecker AR, McCluskey KE, Castillo O, Wang S, Dea J, Helde KA, Michael Graglia J, Brimble E, Kastner DB, Ehrlich AT, State MW, Jeremy Willsey A, Willsey HR. Convergence of autism proteins at the cilium. bioRxiv. 2024.

Hundreds of high confidence autism genes have been identified, yet the relevant etiological mechanisms remain unclear. Gene ontology analyses have repeatedly identified enrichment of proteins with annotated functions in gene expression regulation and neuronal communication. However, proteins are often pleiotropic and these annotations are inherently incomplete. Our recent autism functional genetics work has suggested that these genes may share a common mechanism at the cilium, a membrane-bound organelle critical for neurogenesis, brain patterning, and neuronal activity-all processes strongly implicated in autism. Moreover, autism commonly co-occurs with conditions that are known to involve ciliary-related pathologies, including congenital heart disease, hydrocephalus, and blindness. However, the role of autism genes at the cilium has not been systematically investigated. Here we demonstrate that autism proteins spanning disparate functional annotations converge in expression, localization, and function at cilia, and that patients with pathogenic variants in these genes have cilia-related co-occurring conditions and biomarkers of disrupted ciliary function. This degree of convergence among genes spanning diverse functional annotations strongly suggests that cilia are relevant to autism, as well as to commonly co-occurring conditions, and that this organelle should be explored further for therapeutic potential.

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16. Lee S, Hwang SK, Cho JS, Ryu HC, Chung JY. Population pharmacokinetic and pharmacodynamic model guided weight-tiered dose of AST-001 in pediatric patients with autism spectrum disorder. Front Pharmacol. 2024; 15: 1452526.

AST-001, a novel syrup formulation of L-serine, was developed for the treatment of autism spectrum disorders (ASD) in pediatric patients. This study aimed to establish a pharmacokinetic (PK)-pharmacodynamic (PD) model to elucidate the effect of AST-001 on adaptive behavior in children with ASD. Due to the absence of PK samples in pediatric patients, a previously published population PK model was used to link the PD model by applying an allometric scale to body weight. The time courses of Korean-Vineland Adaptive Behavior Scale-II Adaptive Behavior Composite (K-VABS-II-ABC) scores were best described by an effect compartment model with linear drug effects (Deff, 0.0022 L/μg) and linear progression, where an equilibration half-life to the effect compartment was approximately 15 weeks. Our findings indicated a positive correlation between the baseline K-VABS-II-ABC score (E0, 48.51) and the rate of natural progression (Kprog, 0.015 day(-1)), suggesting enhanced natural behavioral improvements in patients with better baseline adaptive behavior. Moreover, age was identified as a significant covariate for E0 and was incorporated into the model using a power function. Based on our model, the recommended dosing regimens for phase III trials are 2, 4, 6, 10, and 14 g, administered twice daily for weight ranges of 10-13, 14-20, 21-34, 35-49, and >50 kg, respectively. These doses are expected to significantly improve ASD symptoms. This study not only proposes an optimized dosing strategy for AST-001 but also provides valuable insights into the PK-PD relationship in pediatric ASD treatment.

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17. Li Y, Xiao P, Ding H, Wang H, Xu Q, Wang R, Zheng L, Song X, Wang Y, Zhang T. Fecal Microbiota Transplantation in Children with Autism. Neuropsychiatr Dis Treat. 2024; 20: 2391-400.

PURPOSE: This research aimed to explore the clinical efficacy of fecal microbiota transplantation (FMT) in treating children with autism spectrum disorder (ASD). METHODS: In this single-arm prospective study, every participant received FMT therapy, followed by an 8-week follow-up. Children unable to swallow lyophilized capsules (Caps) received fecal solution through transendoscopic enteral tube (TET) or nasal jejunal tube (NJT) approaches. All participants underwent assessments of ASD core symptoms, gastrointestinal (GI) symptoms and sleep status initially, after treatment and during follow-up. The study outcomes included the changes in scores of the Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), Social Responsiveness Scale (SRS), Gastrointestinal Symptoms Rating Scale (GSRS) and Sleep Disturbance Scale for Children (SDSC), as well as the adverse events (AEs). RESULTS: 98 participants were involved, consisting of 80 males and 18 females, with a median age of 7 years. 73 children received the FMT in the form of Caps, while 13 patients underwent the procedure through TET and 12 patients via NJT. Improvements were observed in all outcome measures for Caps and NJT groups at both the post-treatment and 8-week follow-up evaluations. Adjusted between-group analyses at post-treatment and follow-up showed that Caps and NJT group had greater reduction in ABC, CARS and SRS scores compared with TET group, while NJT group had greater reduction in SDSC scores compared with Caps and TET group. The incidence of AEs was 8.2% in the Caps group, 23.1% in the TET group, and 8.3% in the NJT group, with no serious AEs reported. CONCLUSION: FMT treatment can improve the core symptoms, GI symptoms and sleep disturbances in children with ASD. The upper GI tract routes, including Caps and NJT, may be more effective and safe compared to the lower GI tract route of TET.

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18. Linert J, Finestack LH, Abbeduto L. Syntactic Growth of Adolescent Boys With Fragile X Syndrome or Down Syndrome: A Longitudinal Study. J Speech Lang Hear Res. 2024: 1-23.

PURPOSE: The current study addresses a gap in the literature regarding syntactic development of adolescent boys with fragile X syndrome (FXS) and Down syndrome (DS). Specifically, we ask whether syntactic skills plateau or continue to change during adolescence for these groups and whether the profile of syntactic change differs between boys with FXS and those with DS. METHOD: Participants were 38 boys with FXS (with and without autism) and 20 boys with DS between the ages of 10 and 16 years, as well as 33 boys who were neurotypical between the ages of 3 and 8 years at study entry. Trained examiners evaluated the participants annually for four consecutive years. The evaluation included standardized language assessments and a conversational language sample, which was analyzed using mean length of utterance-morphemes and the Index of Productive Syntax. For each measure, we fit a series of candidate models, including the intercept-only model and models with nonverbal cognition and maternal IQ as moderators. We then used Akaike’s information criteria-corrected to determine which model in a candidate set had the most empirical evidence. RESULTS: Our between-groups results indicated that FXS and DS have distinct syntactic profiles. However, our growth analyses and moderator analyses yielded mixed results. For most measures, the most likely models suggest that there is no plateau in the growth of syntactic skills for boys with FXS or DS and that nonverbal cognition is associated with the rate of change. CONCLUSIONS: These results suggest that syntactic change continues to occur throughout adolescence for boys with FXS or DS. The results also indicate that the growth profiles are distinct between the two groups. Future research with more participants from more diverse backgrounds would add more clarity to these findings. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.27984548.

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19. Mahmood SS, Alzubaidee AF, Hussein VM. Assessment of Saliva Oxidative Stress Biomarkers and Gingival Health Status in a Sample of High-Functioning Autistic Children in Erbil City. Cureus. 2024; 16(11): e73717.

Introduction Autism spectrum disorder (ASD) is a complicated disorder that affects communication, social interaction, and behavior. Several investigations have documented increased oxidative stress and damage in individuals with ASD compared with neurotypical controls. Saliva can be used as a non-invasive technique to assess oxidative stress biomarkers. This study aimed to explore the association between oxidative stress and oral health in a sample of high-functioning children with autism in Erbil City. Methods We conducted a case-control study with 96 participants aged 5-12 years, which included 48 children with ASD and 48 healthy controls. Stimulated saliva samples were collected and centrifuged. Oxidative stress biomarkers (malondialdehyde [MDA], glutathione [GSH], and uric acid) and gingival/plaque indices were also measured. Data were analyzed using SPSS, with significance set at p≤0.05. Results The data showed no significant differences between the ASD and control groups in the gingival index, salivary malondialdehyde, glutathione, or uric acid levels. However, the control group had a significantly higher mean plaque index than the ASD group (P = 0.003). Conclusion Sample size and confounding variables may influence the absence of significant differences in gingival index and salivary oxidative stress biomarkers between groups. The higher plaque index in controls aligns with plaque gingivitis. Age differences could impact oral health interpretations. Further research is needed to understand significant factors and the clinical significance of these findings in pediatric ASD populations. Most autistic children were from educated families and had good oral hygiene in addition to special care by the staff of the center.

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20. Mamun MA, Al-Mamun F, Roy N, Raquib A, Kaggwa MM, MM AL, Gozal D, Hossain MS. Preconception and gestational versus postnatal exposure to air pollutants and risk of autism spectrum disorder: a systematic review and meta-analysis. Int Arch Occup Environ Health. 2024.

PURPOSE: The rising prevalence of ASD has prompted extensive research into potential environmental risk factors, with air pollution particularly emerging as a major concern. A systematic review and meta-analysis on the effect of air pollutants and time of exposure (particularly, PM(2.5), PM(10), NO(2), and O(3)) and the risk of ASD was therefore performed. METHODS: Following PRISMA guidelines and PROSPERO registration (Ref: CRD42023464592), a thorough literature search was conducted across multiple databases, including Scopus, PubMed/MEDLINE, Embase, PsycINFO, Web of Science, and Cochrane Library. The analysis included 27 studies encompassing 369,460 participants, 47,973 of whom were diagnosed with ASD. RESULTS: Preconception exposure to air pollutants showed a protective trend for PM(2.5), PM(10), and O(3) with a 10%, 5%, and 19% reduced risk of ASD, whereas NO(2) had a 28% higher likelihood of ASD. During gestation, PM(2.5) exposure increased ASD risk by 15%, with 13% and 9%, 25% and 7%, and 25% and 10% increases in ASD risk with PM(2.5) and NO(2) for the first, second, and third trimesters, respectively. In the first year of life, 20%, 8%, 33%, and 14% increases in risk were found for PM(2.5), PM(10), NO(2), and O(3), respectively, while such risk estimates increased to 179%, 60%, 12%, and 179% for the second year of life. CONCLUSIONS: In this meta-analysis, the relationships between air pollutants and ASD risk revealed significant associations, particularly for PM(2.5) and NO(2). Exposure during preconception exhibited a protective trend, while postnatal exposure, particularly during the second year of life uncovered substantially higher ASD risk.

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21. 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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22. McAdams ZL, Gustafson KL, Russell AL, Self R, Petry AL, Lever TE, Ericsson AC. Supplier-origin gut microbiomes affect host body weight and select autism-related behaviors. Gut Microbes. 2024; 16(1): 2385524.

Autism spectrum disorders (ASD) are complex human neurodiversities increasing in prevalence within the human population. In search of therapeutics to improve quality-of-life for ASD patients, the gut microbiome (GM) has become a promising target as a growing body of work supports roles for the complex community of microorganisms in influencing host behavior via the gut-brain-axis. However, whether naturally-occurring microbial diversity within the host GM affects these behaviors is often overlooked. Here, we applied a model of population-level differences in the GM to a classic ASD model – the BTBR T(+) Itpr3(tf)/J mouse – to assess how complex GMs affect host behavior. Leveraging the naturally occurring differences between supplier-origin GMs, our data demonstrate that differing, complex GMs selectively effect host ASD-related behavior – especially neonatal ultrasonic communication – and reveal a male-specific effect on behavior not typically observed in this strain. We then identified that the body weight of BTBR mice is influenced by the postnatal GM which was potentially mediated by microbiome-dependent effects on energy harvest in the gut. These data provide insight into how variability within the GM affects host behavior and growth, thereby emphasizing the need to incorporate microbial diversity within the host GM as an experimental factor in biomedical research.

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23. Merchie A, Bonnet-Brilhault F, Escera C, Houy-Durand E, Gomot M. Unraveling neural adaptation to vocal and non-vocal sounds in autism. Clin Neurophysiol. 2024; 170: 58-66.

OBJECTIVE: Autism is linked to a strong need for sameness and difficulties in social communication, associated with atypical brain responses to voices and changes. This study aimed to characterize neural adaptation in autistic adults using a Roving paradigm and assess how vocal vs. non-vocal, as well as neutral vs. emotional sounds, influence this adaptation. METHODS: Neural adaptation was measured in 20 autistic and 20 non-autistic adults using a Roving paradigm, where sounds were repeated 4, 8, or 14 times. Neural responses and Repetition Positivity (RP) amplitudes were analyzed as indices of adaptation. RESULTS: RP amplitudes showed no significant differences between groups for vocal or non-vocal sounds, but adaptation dynamics varied. Non-autistic adults adapted more quickly to non-vocal (5-8 repetitions) compared to vocal sounds (12-14 repetitions). In contrast, autistic adults adapt faster to vocal than to non-vocal sounds. Moreover emotional prosodic content influenced RP amplitude in autistic adults only, suggesting heightened sensitivity to emotional cues in social contexts. CONCLUSIONS: The study highlights how atypical neural adaptation in autism how emotional content impacts social communication deficits. These insights enhance understanding of autism-related adaptation challenges.

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24. 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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25. Moore DJ, Jordan A, Wainwright E, Failla MD, Connell H, Gauntlett-Gilbert J. The effects of autistic traits in adolescents on the efficacy of paediatric Intensive Interdisciplinary Pain Treatment (IIPT). J Pain. 2024: 104757.

Autistic adolescents are at greater risk of chronic pain, but it is unclear how autistic features may relate to individual aspects of chronic pain. As autism traits exist in the general population as well, it is important to know if autistic traits could impact how effective chronic pain management is for adolescents. Here we examined autistic traits in 112 patients (12-18yrs) recruited from a UK national specialist adolescent pain rehabilitation programme. Participants completed screening questionnaires for autistic traits upon entry to the programme, as well as clinically recognised pain measures before and after the 3-week treatment program. Autistic traits predicted greater psychological challenges at treatment onset. Critically, autistic traits were not related to the magnitude of improvement in pain measures during the pain management program. Our study suggests that adolescents with greater autistic traits may benefit from existing pain rehabilitation programs at similar rates to their peers. Additionally, these data suggest no reason for therapeutic pessimism for autistic pain patients. We do however acknowledge that these data may differ in populations with an autistic diagnosis, and that barriers may still exist for autistic people in treatment for pain. PERSPECTIVE: Autistic traits were explored in patients undergoing an Intensive Interdisciplinary Pain Treatment (IIPT). Higher autistic traits correlated with more pain related psychological difficulties at intake. Autistic traits were not related to the magnitude of improvement following IIPT. Our data therefore suggests that autism should not be a barrier to IIPT. DATA AVAILABILITY: Data is held in the PAIRED Pain Rehabilitation Database: Bath and Bristol, individual data used in the current analyses are therefore not available.

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26. Özbaran B, Çek D, Doğan N, Ay O, Tutar Z, Özbaran M. Multidisciplinary Evaluation of Heart Transplantation and Ventricular Assist Device Implantation in a Child with Autism Spectrum Disorder. Noro Psikiyatr Ars. 2024; 61(4): 377-9.

Organ transplantation practices have witnessed tremendous advances all over the world and in Türkiye in recent years, and the pre-transplantation preparation, operation and postoperative follow-up procedures are being meticulously handled. However, there is very limited information about follow-up processes of pediatric patients with autism spectrum disorder (ASD) undergoing organ transplantation. Furthermore, it is difficult to manage the arduous and long-term care and follow-up processes in ASD cases undergoing organ transplantation. In this case report, an 11-year-old male patient with a diagnosis of ASD and attention deficit-hyperactivity disorder (ADHD) was reviewed psychiatrically for the suitability of ventricular assist device (VAD) implantation and heart transplantation, and the multidisciplinary council process was evaluated. The council decided that the case was suitable for heart transplantation but not suitable for long-term intracorporeal device implantation due to behaviors such as plucking wounds, playing with vascular access, and being nervous about vascular access. The council stated that due to sensory hypersensitivity of the case, implantation of such a device may further increase anxiety, and involuntary damage to the device may result in personal harm. We hope that this case report will guide future endeavors to develop devices suitable for cases with ASD or other behavioral problems.

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27. Qiao D, Mu C, Chen H, Wen D, Wang Z, Zhang B, Guo F, Wang C, Zhang R, Wang C, Cui H, Li S. Implications of prenatal exposure to hyperandrogen for hippocampal neurodevelopment and autism-like behavior in offspring. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 136: 111219.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder that significantly jeopardizes the physical and mental well-being of children. Autism spectrum disorder results from a combination of environmental and genetic factors. Hyperandrogenic exposure during pregnancy increases their risk of developing autism. Nevertheless, the prenatal exposure to androgens affects offspring neurodevelopment and the underlying mechanisms have not been fully elucidated. In the present study, administration of excessive dihydrotestosterone (DHT) to pregnant mice was found to impair neuronal development and dendritic spine formation in offspring, inducing autism-like behaviors. Furthermore, through mRNA transcriptome sequencing technology, the key molecule Nr4a2 was identified during this process of change. Overexpression of Nr4a2 and treatment with amodiaquine (AQ) significantly improved the abnormal phenotypes in offspring caused by prenatal exposure to androgens. Overall, Nr4a2 emerges as a crucial molecule involved in the impairment of offspring neurodevelopment due to prenatal androgen exposure, which provides a new perspective for the in-depth study of the influencing factors and underlying mechanisms.

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28. Ranaut A, Khandnor P, Chand T. Identification of autism spectrum disorder using electroencephalography and machine learning: a review. J Neural Eng. 2024; 21(6).

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by communication barriers, societal disengagement, and monotonous actions. Traditional diagnostic methods for ASD rely on clinical observations and behavioural assessments, which are time-consuming. In recent years, researchers have focused mainly on the early diagnosis of ASD due to the unavailability of recognised causes and the lack of permanent curative solutions. Electroencephalography (EEG) research in ASD offers insight into the neural dynamics of affected individuals. This comprehensive review examines the unique integration of EEG, machine learning, and statistical analysis for ASD identification, highlighting the promise of an interdisciplinary approach for enhancing diagnostic precision. The comparative analysis of publicly available EEG datasets for ASD, along with local data acquisition methods and their technicalities, is presented in this paper. This study also compares preprocessing techniques, and feature extraction methods, followed by classification models and statistical analysis which are discussed in detail. In addition, it briefly touches upon comparisons with other modalities to contextualize the extensiveness of ASD research. Moreover, by outlining research gaps and future directions, this work aims to catalyse further exploration in the field, with the main goal of facilitating more efficient and effective early identification methods that may be helpful to the lives of ASD individuals.

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29. Schiff LD, Hester AOD, Benevides T. Providing Effective Medical Care to Autistic People. N Engl J Med. 2024; 391(24): 2281-3.

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30. Tedla JS, Asiri F, Reddy RS, Sangadala DR, Gular K, Kakaraparthi VN. Assessing the quality of life in children with autism spectrum disorder: a cross-sectional study of contributing factors. Front Psychiatry. 2024; 15: 1507856.

OBJECTIVE: The study aimed to assess the quality of life (QoL) in children with autism spectrum disorder (ASD) compared to typically developing peers, identify key influencing factors such as socio-demographic and comorbid conditions, and examine the impact of symptom severity on QoL outcomes. METHODS: In this cross-sectional study conducted in Saudi Arabia, 75 children with ASD were compared to 75 typically developing children matched for age and gender. QoL was evaluated using the Pediatric Quality of Life Inventory (PedsQL), while the severity of autism symptoms was assessed using the Autism Diagnostic Observation Schedule (ADOS). Additional variables, including socio-demographic factors, comorbid conditions, and family environment, were collected through structured interviews and clinical assessments. Statistical analyses, including independent samples t-tests, multiple linear regression, and ANOVA, were employed to compare QoL scores, identify predictors, and assess the impact of symptom severity on QoL outcomes. RESULTS: The mean overall QoL score for children with ASD was 57.86 (SD = 13.25) compared to 81.67 (SD = 10.89) for typically developing children (t = -10.56, p < 0.001, Cohen's d = 1.90). Socioeconomic status (β = -0.25, t = -5.00, p < 0.001), comorbid ADHD (β = -0.35, t = -5.83, p < 0.001), and parental mental health issues (β = -0.45, t = -9.00, p < 0.001) were significant predictors of lower QoL. ANOVA results showed that children with severe autism symptoms had the lowest QoL scores (mean = 40.12, SD = 15.67; F = 20.45, p < 0.001, η² = 0.45). CONCLUSION: Children with ASD showed significantly lower QoL, particularly in social and school functioning, highlighting the need for targeted interventions addressing core symptoms and environmental and family factors to improve outcomes.

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31. Theodoratou M. Communication issues in co-occurring ADHD and autism spectrum disorders. Evaluative approaches and targeted interventions: mini review. Postep Psychiatr Neurol. 2024; 33(3): 188-95.

PURPOSE: This mini-review presents strategies for assessing and treating communication difficulties in individuals with comorbid attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Standardized assessments such as the Clinical Evaluation of Language Fundamentals and the Test of Language Development provide quantitative insights, while pragmatic tools, such as the Pragmatic Language Skills Inventory and the Social Communication Questionnaire provide qualitative measures of social communication skills. A comprehensive assessment also integrates clinical interviews, multi-contextual observations. VIEWS: A multifaceted approach tailored to individual needs is required to effectively treat communication difficulties. Evidence suggests benefits from social skills training, structured group therapy sessions, and speech and language therapy focusing on expressive, receptive, and pragmatic language skills. Augmentative and alternative communication systems provide support for individuals with limited verbal skills. In addition, the development of supportive academic frameworks, such as Individualized Education Programs or Individualized Accommodation Plans, involves environmental modifications and collaborative educational planning including psychologists, educators, and families. CONCLUSIONS: Comorbid ADHD and ASD significantly impair communication, necessitating precise evaluation and multimodal interventions such as social skills training and augmentative and alternative communication tools. Collaborative, evidence-based approaches enhance functional outcomes and quality of life in affected individuals.

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32. Van Overwalle J, Van der Donck S, Geusens B, Boets B, Wagemans J. Altered category learning and reduced generalization in autistic adults. Autism Res. 2024.

Individuals with autism spectrum condition (ASC) are suggested to experience difficulties with categorization and generalization. However, empirical studies have mainly focused on one process at a time, and neglected underlying neural mechanisms. Here, we investigated categorization and generalization at a behavioral and neural level in 38 autistic and 38 neurotypical (NT) adults. By presenting shapes sampled from an artificial multidimensional stimulus space, we investigated (1) behavioral and neural underpinnings of category learning and (2) behavioral generalization of trained categorization to both an extended version of the stimulus space and a novel stimulus space. Our previous findings showed that individuals with autism were slower in category learning. In this study, we demonstrate that this slower learning in autism was not related to differences in applied categorization strategy. In contrast, electroencephalography recordings during training did reveal a reduced amplitude of the N1 component in the right occipital temporal cortex after stimulus presentation in autistic participants, which suggests atypical categorical proficiency. In addition, we observed delayed and higher activation in the frontal regions after receiving (negative) feedback in the autistic group, potentially suggesting more explicit feedback processing or a higher salience of prediction errors in autism. Finally, autistic and NT individuals were able to generalize their learned categorization after training. However, when generalizing to a novel set of shapes, autistic individuals were significantly less accurate. Reduced generalization significantly correlated with increased intolerance to uncertainty scores. This multi-level approach reveals behavioral and neural differences in learning and generalization that could be related to clinical symptoms in autism.

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33. Wagner L, Banchik M, Tsang T, Okada NJ, Altshuler R, McDonald N, Bookheimer SY, Jeste SS, Green SA, Dapretto M. Atypical Neural Responses to Native and Non-Native Language in Infants at High Likelihood for Developing Autism. Res Sq. 2024.

BACKGROUND: Language difficulties are common in autism spectrum disorder (ASD), a neurodevelopmental condition characterized by impairments in social communication as well as restricted and repetitive behaviors. Amongst infant siblings of children with an ASD diagnosis – who are at higher likelihood for developing ASD – a high proportion also show difficulties and delays in language acquisition. METHODS: In this study, we used functional magnetic resonance imaging (fMRI) to examine atypicalities associated with language processing in 9-month-old infants at high (HL) and typical (TL) familial likelihood for ASD. Infants were presented with native (English) and novel (Japanese) speech while sleeping naturally in the scanner. Whole-brain and a priori region-of-interest analyses were conducted to evaluate neural differences in language processing based on likelihood group and language condition. RESULTS: HL infants showed attenuated responses to speech in general, particularly in left temporal language areas, as well as a lack of neural discrimination between the native and novel languages compared to the TL group. Importantly, we also demonstrate that HL infants show distinctly atypical patterns of greater rightward lateralization for speech processing. Limitations: The sample size, particularly for the TL group, is relatively modest due to the challenges inherent to collecting auditory stimulus-evoked data from sleeping participants, as well as retention and follow-up difficulties posed by the COVID-19 pandemic. Additionally, the groups were not matched on some demographic variables; however, the present findings held even after accounting for these differences. CONCLUSIONS: To our knowledge, this is the first fMRI study to directly measure autism-associated atypicalities in native language uptake during infancy. These findings provide a better understanding of the neurodevelopmental underpinnings of language delay in ASD, which is a prerequisite step for developing earlier and more effective interventions for autistic children and HL siblings who experience language impairments.

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34. Wang Y, Guo D, Xia Y, Hu M, Wang M, Yu Q, Li Z, Zhang X, Ding R, Zhao M, Shi Z, Zhu D, He P. Effect of Community-Based Integrated Care for Patients With Diabetes and Depression (CIC-PDD) in China: A Pragmatic Cluster-Randomized Trial. Diabetes Care. 2024.

OBJECTIVE: To develop a care model for patients with both diabetes and depression and assess the model’s effectiveness. RESEARCH DESIGN AND METHODS: In this pragmatic cluster randomized trial, we allocated eight community health centers into two groups: the enhanced usual care group and the intervention group. A comprehensive care plan was developed for the intervention group based on the integrated care model. We recruited individuals aged ≥18 years with type 2 diabetes and depression (Patient Health Questionnaire-9 score ≥10). The primary outcome was the between-group difference in the percentage of patients who had at least a 50% reduction in depressive symptoms and a reduction of at least 0.5 percentage points in HbA1c. The outcome analysis was conducted within the intention-to-treat population; missing data were multiply imputed. RESULTS: We enrolled 630 participants, with 275 in the intervention group and 355 in the control group. A significantly greater percentage of patients in the intervention group met the primary outcome at 12 months (for depressive symptoms: risk difference [RD] 31.03% [62.06% vs. 31.02%, respectively; 95% CI 21.85-40.21]; for HbA1c: RD 19.16% [32.41% vs. 13.25%, respectively; 95% CI 11.35-26.97]). The patients in the intervention group showed significant enhancements in mental quality of life (mean difference [MD] 6.74 [46.57 vs. 39.83, respectively; 95% CI 3.75-9.74]), diabetes self-care activities (MD 0.69 [3.46 vs. 2.78, respectively; 95% CI 0.52-0.86]), medication adherence (MD 0.72 [6.49 vs. 5.78, respectively; 95% CI 0.37-1.07]), and experience of care (MD 0.89 [3.84 vs. 2.95, respectively; 95% CI 0.65-1.12]) at 12 months. Rural participants benefited more from the intervention. CONCLUSIONS: The implementation strategy can serve as a valuable blueprint for the identification and treatment of patients with physical and mental multimorbidity in primary health care settings.

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35. Yates Flanagan A, Cola M, Yu N, Peele H, Dicette K, Hicks G, Pelella MR, King-Pointer A, Owens J, Truong DM, Hauptmann A, Pacheco J, Russell A, Lee A, Schillinger S, Covello M, Lyons M, Solórzano R, Turnacioglu S, Ravindran V, McCleery JP, Miller JS, Parish-Morris J. Policing Black autistic children: A qualitative approach to understanding Black caregivers’ concerns. Autism. 2024: 13623613241303549.

In the United States, Black autistic youth face elevated risk of negative outcomes during police interactions. Although the outcomes of these interactions are well-documented, less is known about Black autistic youths’ experiences during police encounters, as the current literature has largely examined the experiences of autistic adults, mostly White American samples, and/or autistic youth abroad. This study utilizes qualitative methods to examine the perceptions and concerns of 43 Black caregivers (N = 43; 98% parents; 2% legal guardians; 93% mothers) of Black autistic children (mean age: 16.5; 79% male) regarding police interactions with their autistic children. Through phenomenological analysis, four dominant themes emerged: concerns regarding the Quality of police officers’ training, children’s Autistic behaviors being inappropriately policed, the explicit Threat of harm and murder, and the hope for Mindful Policing. These findings demonstrate that caregivers’ perceptions of police behavior are inextricably linked to their concerns about the quality of police officers’ training. This study highlights (1) the importance of including racially and ethnically diverse individuals in research exploring autistic individuals’ police interactions, (2) the need for culturally responsive and neuro-affirming adaptations to existing policing interventions designed for autistic people, and (3) the urgency of integrating Black caregivers’ concerns into law enforcement training efforts.

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36. Zubarioglu T, Ulgen D, Akca-Yesil S, Akbulut S, Onay H, Uzunyayla-Inci G, Beser OF, Hatemi A, Aktuğlu-Zeybek Ç, Kiykim E. Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective SI gene sequencing study. Autism Res. 2024.

Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing. A prospective cross-sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent SI gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three-day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on SI gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non-specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for SI variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the SI gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms.

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