1. Brown HK, Taylor C, Camden A, Lunsky Y, Vigod S, Santiago M, Fung K, Cohen E, Guttmann A, Telner D, Ray J, Zwicker J, Saunders N. Maternal Disability and Early Child Preventive Care. Pediatrics;2024 (Oct 1);154(4)

OBJECTIVES: Preventive health care for children comprises routine well-child visits and immunizations. Women with physical, sensory, or intellectual or developmental disabilities tend to experience more barriers to preventive health care; yet it is unknown whether such barriers are observed among their young children. METHODS: This population-based study in Ontario, Canada included children born between 2012 and 2019 whose mothers had a physical (n = 74 084), sensory (n = 26 532), or intellectual or developmental (n = 1391) disability, multiple disabilities (n = 5774), or no disability (n = 723 442). Primary outcomes were receipt of the recommended number of well-child visits and routine immunizations in the first 2 years. Secondary outcomes included receipt of the enhanced 18-month developmental assessment and any developmental screen. Relative risks (aRR) were generated using modified Poisson regression and adjusted for maternal sociodemographics and mental health and child sex. RESULTS: Compared with children of mothers without disabilities, those whose mothers had intellectual or developmental disabilities were less likely to receive the recommended number of well-child visits (56.3% vs 63.2%; aRR 0.92, 95% confidence interval [CI] 0.88-0.97), routine immunizations (43.8% vs 53.7%; aRR 0.88, 95% CI 0.83-0.94), enhanced 18-month developmental assessment (52.3% vs 60.8%; aRR 0.92, 95% CI 0.88-0.97), or any developmental screen (54.9% vs 62.5%; aRR 0.94, 95% CI 0.90-0.99). Other disability groups did not experience such disparities. CONCLUSIONS: There is a need to develop resources to improve access to preventive health care for young children of women with intellectual or developmental disabilities.

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2. Cerilli E, Dall OG, Chelini G, Catena B, Weinberger B, Bozzi Y, Pangrazzi L. Immune system dysfunction and inflammation in aging Shank3b mutant mice, a model of autism spectrum disorder. Front Immunol;2024;15:1447385.

INTRODUCTION: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental Q8 conditions characterized by deficits in social interaction/communication and restrictive/repetitive behaviors. Recent studies highlight the role of immune system dysfunction and inflammation in ASD pathophysiology. Indeed, elevated levels of pro-inflammatory cytokines were described in the brain and peripheral blood of ASD individuals. Despite this, how this pro-inflammatory profile evolves with aging and whether it may be associated with behavioral deficits is unknown. In this work, we explored the impact of aging on motor behavior and inflammation using Shank3b mutant mice, a model for syndromic ASD. METHODS: Using RT-qPCR and flow cytometry, we examined the expression of key pro-inflammatory molecules in the cerebellum, bone marrow, spleen, and peripheral blood, comparing adult and old Shank3b (+/+), Shank3b (+/-), and Shank3b (-/-) mice. RESULTS AND DISCUSSION: Our findings revealed genotype- and age-related differences in inflammation and motor behavior, with Shank3b(-/-) mice exhibiting accelerated aging and motor impairments. Correlations between pro-inflammatory molecules and behavioral deficits suggest that a link may be present between systemic inflammation and ASD-related behaviors, underscoring the potential role of age-related inflammation (« inflammaging ») in exacerbating ASD symptoms.

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3. Chen YL, Yen CF, Lai YH, Hsiao RC, Chou WP. Risks of Hyperopia, Myopia, Astigmatism, and Strabismus in Children With Autism Spectrum Disorder: A Nationwide, Population-Based Cohort Study. Braz J Psychiatry;2024 (Sep 22)

OBJECTIVE: In this population-based cohort study, we compared the risks of incident hyperopia, myopia, astigmatism, and strabismus between children with autism spectrum disorder (ASD) and children without ASD. METHODS: This study included children who were born in Taiwan at any time between 2004 and 2017. Data were collected from the Taiwan Maternal and Child Health Database. We included 20,688 children with ASD and 2,062,120 matched controls to estimate the risks of incident hyperopia, myopia, astigmatism, and strabismus. Cox proportional hazards regression models were constructed for risk assessment. The models were adjusted for sex, calendar year of birth, and gestational age at birth. Statistical significance was determined by calculating adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs). RESULTS: Children with ASD had higher risks of incident hyperopia (aHR: 1.78; 95% CI: 1.70-1.86), myopia (aHR: 1.27; 95% CI: 1.24-1.30), astigmatism (aHR: 1.51; 95% CI: 1.46-1.56), and strabismus (aHR: 2.18; 95% CI: 2.05-2.32) than did those without it. CONCLUSION: Clinicians should screen children with ASD for potential ophthalmic conditions. Further studies are required to elucidate the mechanisms underlying the associations between ASD and ophthalmic diseases. The roles of types and severities of ASD symptoms in detecting ophthalmic disease also requires further study.

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4. Dey S, Mondal P, Mandal S, Sasmal S, Chakraborty N, Das A. Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder. J Vis Exp;2024 (Sep 6)(211)

Autism Spectrum Disorder (ASD) encompasses a heterogeneous group of neurodevelopmental disorders with common behavioral symptoms including deficits in social interaction and ability for communication, enhanced restricted or repetitive behaviors, and also, in some cases, learning disability and motor deficit. Drosophila has served as an unparalleled model organism for modeling a great number of human diseases. As many genes have been implicated in ASD, fruit flies have emerged as a powerful and efficient way to test the genes putatively involved with the disorder. As hundreds of genes, with varied functional roles, are implicated in ASD, a single genetic fly model of ASD is unfeasible; instead, individual genetic mutants, gene knockdowns, or overexpression-based studies of the fly homologs of ASD-associated genes are the common means for gaining insight regarding molecular pathways underlying these gene products. A host of behavioral techniques are available in Drosophila which provide easy readout of deficits in specific behavioral components. Social space assay and aggression and courtship assays in flies have been shown to be useful in assessing defects in social interaction or communication. Grooming behavior in flies is an excellent readout of repetitive behavior. Habituation assay is used in flies to estimate the ability for habituation learning, which is found to be affected in some ASD patients. A combination of these behavioral paradigms can be utilized to make a thorough assessment of the human ASD-like disease state in flies. Using Fmr1 mutant flies, recapitulating Fragile-X syndrome in humans, and POGZ-homolog row knockdown in fly neurons, we have shown quantifiable deficits in social spacing, aggression, courtship behavior, grooming behavior, and habituation. These behavioral paradigms are demonstrated here in their simplest and straightforward forms with an assumption that it would facilitate their widespread use for research on ASD and other neurodevelopmental disorders in fly models.

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5. Dunham-Carr K, Mailapur N, Keçeli-Kaysili B, Feldman JI, Thompson E, Davis H, Tharpe AM, Picou E, Woynaroski TG. Remote Microphone Systems for Autistic and Nonautistic Youth: Effects on Audiovisual Task Engagement. Ear Hear;2024 (Sep 23)

OBJECTIVES: A recent study has provided empirical support for the use of remote microphone (RM) systems to improve listening-in-noise performance of autistic youth. It has been proposed that RM system effects might be achieved by boosting engagement in this population. The present study used behavioral coding to test this hypothesis in autistic and nonautistic youth listening in an ecologically valid, noisy environment. DESIGN: We drew on extant data from a recent experimental study in which 56 youth (32 autistic, 24 nonautistic) matched at the group level on age and biological sex completed listening-in-noise tasks wherein they reported their perception of audiovisual syllables, words, sentences, and passages with and without an RM system; conditions were counter-balanced across participants. As previously reported, perceptual accuracy varied with stimulus complexity and overall improved with the RM system, with improvements not significantly different between groups. Video recordings of participants completing listening-in-noise tasks in both conditions were coded via a 5-second, partial-interval coding system by naive coders for (a) engagement in the task (indexed via proportion of intervals in which participants displayed on-task behaviors) and (b) verbal, stimulus-specific protesting in the task (indexed via proportion of intervals in which participants displayed verbal, stimulus-specific protesting behaviors). Examples of on-task behaviors included attending to the screen and completing task activities. Examples of protesting behaviors included complaining about stimuli volume or the inability to hear. Chronological age, autism features, language ability, audiovisual speech integration as measured by psychophysical tasks, tactile responsiveness, and nonverbal intelligence quotient were evaluated as putative predictors and/or moderators of effects on behaviors of interest. RESULTS: In general, participants were highly engaged in the task, and there were few protests, reflecting more than 90% and fewer than 0.5% of coded intervals, respectively. We did not detect any statistically significant effects of group or RM system use on task engagement. Nonautistic youth were engaged in the listening-in-noise task for an average of 97.45% of intervals, whereas autistic youth were engaged in the listening-in-noise task for an average of 94.25% of intervals. In contrast, verbal, stimulus-specific protesting in the listening-in-noise task was significantly reduced, on average, in the RM (0.04% of intervals) versus the No RM (0.2% of intervals) conditions. There were no effects related to group for this behaviorally coded outcome. In addition, select participant characteristics predicted engagement within conditions across participants. Greater language ability and nonverbal intelligence quotient predicted increased engagement when not using an RM system. Increased features of autism and wider temporal binding windows for audiovisual speech predicted reduced engagement while using an RM system, and greater audiovisual integration predicted increased engagement while using an RM system. CONCLUSIONS: The results of this study suggest that RM system use reduces verbal, stimulus-specific protesting, which likely reflects difficulty engaging when listening in noise. The present study extends our previous study to provide additional empirical support for RM system use in autistic and nonautistic youth.

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6. Firestein MR, Manessis A, Warmingham JM, Xu R, Hu Y, Finkel MA, Kyle M, Hussain M, Ahmed I, Lavallée A, Solis A, Chaves V, Rodriguez C, Goldman S, Muhle RA, Lee S, Austin J, Silver WG, O’Reilly KC, Bain JM, Penn AA, Veenstra-VanderWeele J, Stockwell MS, Fifer WP, Marsh R, Monk C, Shuffrey LC, Dumitriu D. Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic. JAMA Netw Open;2024 (Sep 3);7(9):e2435005.

IMPORTANCE: Stress and viral illness during pregnancy are associated with neurodevelopmental conditions in offspring. Autism screening positivity for children born during the pandemic remains unknown. OBJECTIVE: To examine associations between prenatal exposure to the pandemic milieu and maternal SARS-CoV-2 infection with rates of positive Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) screenings. DESIGN, SETTING, AND PARTICIPANTS: Data for this cohort study were drawn from the COVID-19 Mother Baby Outcomes (COMBO) Initiative. M-CHAT-R scores obtained from children aged 16 to 30 months during routine clinical care at Columbia University Irving Medical Center in New York City were abstracted from electronic health records (EHRs) for children born between January 2018 and September 2021 (COMBO-EHR cohort). Separately, the M-CHAT-R was administered at 18 months for children born between February 2020 and September 2021 through a prospective longitudinal study (COMBO-RSCH cohort). Prenatal pandemic exposure (birth after March 1, 2020) and maternal SARS-CoV-2 status during pregnancy was determined through EHRs. Data were analyzed from March 2022 to June 2024. EXPOSURES: Prenatal exposures to the pandemic milieu and maternal SARS-CoV-2 infection. MAIN OUTCOMES AND MEASURES: The primary outcome was rate of positive M-CHAT-R screenings. For all primary analyses, unadjusted χ2 tests and adjusted logistic regression models were performed. RESULTS: The COMBO-EHR cohort included 1664 children (442 born before the pandemic and 1222 born during the pandemic; 997 SARS-CoV-2 unexposed, 130 SARS-CoV-2 exposed, and 95 with unknown SARS-CoV-2 exposure status), of whom 266 (16.0%) were Black, 991 (59.6%) were Hispanic, 400 (24.0%) were White, 1245 (74.8%) were insured through Medicaid, 880 (52.9%) were male, and 204 (12.3%) were born prematurely. The COMBO-RSCH cohort included 385 children (74 born before the pandemic and 311 born during the pandemic; 201 SARS-CoV-2 unexposed, 101 SARS-CoV-2 exposed, and 9 with unknown SARS-CoV-2 exposure status), of whom 39 (10.1%) were Black, 168 (43.6%) were Hispanic, 157 (40.8%) were White, 161 (41.8%) were insured through Medicaid, 222 (57.7%) were male, and 38 (9.9%) were born prematurely. Prenatal pandemic exposure was not associated with a higher positive M-CHAT-R screening rate in either the COMBO-EHR or COMBO-RSCH cohort. Prenatal exposure to maternal SARS-CoV-2 infection was associated with a lower rate of M-CHAT-R positivity in the COMBO-EHR cohort (12.3% [16 children] vs 24.0% [239 children]; adjusted odds ratio, 0.40; 95% CI, 0.22-0.68; P = .001), but no association was found in the COMBO-RSCH cohort (12.9% [13 children] vs 19.9% [40 children]; adjusted odds ratio, 0.51; 95% CI, 0.24-1.04; P = .07). CONCLUSIONS AND RELEVANCE: In this cohort study of 2 groups of children with prenatal pandemic exposure and/or exposure to maternal SARS-CoV-2 infection, neither exposure was associated with greater M-CHAT-R positivity.

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7. Friedman C. Transportation for people with intellectual and developmental disabilities in Home- and Community-Based Services. Disabil Health J;2024 (Sep 19):101708.

BACKGROUND: Transportation can help improve the health, quality of life, and community integration of people with intellectual and developmental disabilities (IDD). Yet, transportation is one of people with IDD’s most common unmet needs. OBJECTIVE: The aim of this study was to examine if, and, how, states provide non-medical transportation to people with IDD in their Medicaid HCBS programs. METHODS: Using content analysis and descriptive statistics, this study analyzed fiscal year (FY) 2021 Medicaid HCBS 1915(c) waivers for people with IDD from across the nation to examine how they allocated transportation. RESULTS: In FY 2021, all 44 states and the District of Columbia with HCBS waivers for people with IDD provided transportation services. Transportation was included either by providing a stand-alone service that exclusively provided transportation, or by being embedded within another service. Transportation was embedded within 896 different HCBS services for people with IDD, most commonly within residential habilitation services (26.70 %), supported employment services (19.44 %), and day habilitation (18.44 %). Thirty-three states (73.33 %) also provided 145 different stand-alone transportation services in their programs for people with IDD, to increase community integration and help people gain access to waiver services. A total of $781.78 million of spending was projected for stand-alone transportation services for 261,109 people with IDD (30.32 % of waiver recipients). CONCLUSIONS: HCBS waivers are an important resource for providing transportation for people with IDD. However, significant variation in how states do so may result in disparities or unmet needs.

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8. George SS, Elenjickal MG, Naik S, Thomas NG, Vellappally S, Varghese N, Mathew A, Narayan V, Varughese RP, Anil S. Oral health status and dental treatment needs in children with autism spectrum disorder. Heliyon;2024 (Sep 30);10(18):e37728.

OBJECTIVE: To evaluate oral health care practices, health status, and dental treatment needs in children with Autism Spectrum Disorder (ASD). METHODS: This cross-sectional study included 96 children diagnosed with ASD per the DSM-V criteria and 96 typically developing healthy children. The WHO form assessed oral health status and dental treatment needs. RESULTS: Over 50 % of ASD children had mild/moderate autism, 35.4 % had severe autism, and 13.5 % had autistic traits. ASD children experienced more toothbrushing difficulties compared to non-ASD children. Based on Nyvad’s criteria and decayed/filled teeth (dft) index, non-ASD children had higher caries prevalence than ASD children, indicating less need for restorative treatments in the ASD group. However, ASD children had poorer plaque scores than non-ASD children. A significantly higher percentage of ASD children exhibited harmful oral behaviors, including mouth breathing, lip biting, bruxism, nail biting, object biting, and self-injury (p < 0.001). ASD children also showed increased traumatic dental injuries compared to non-ASD children. CONCLUSION: Compared to non-ASD peers, children with ASD have lower dental caries prevalence and less need for restorations, yet poorer plaque control. They also demonstrate more frequent oral self-injuries. ASD status appears related to toothbrushing difficulties. These findings highlight the need for tailored oral health interventions for children with ASD.

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9. Jana S, Das S, Giri B, Archak R, Bandyopadhyay S, Jana NR. Prenatal Exposure to Azadiradione Leads to Developmental Disabilities. Mol Neurobiol;2024 (Sep 23)

Azadiradione is a brain-permeable phytochemical present in the seed of an Indian medicinal plant, Azadirachta Indica, well known as neem. Recently, this small bioactive molecule has been revealed to induce the expression of Ube3a, a ubiquitin ligase whose loss and gain of function are associated with two diverse neurodevelopmental disorders. Here, we report that in utero exposure to azadiradione in mice results in severe developmental disabilities. Treatment of a well-tolerated dose of azadiradione into the pregnant dam (at embryonic days 12 and 14) causes a substantial decrease in the body weight of the newborn pups during their early developmental periods along with significant cognitive, motor, and communication deficits and increased anxiety-like behaviors. As the animals grow from adolescence to adulthood, their body weight and many behavioral deficits are gradually restored to normalcy, although the cognitive deficit persists significantly. Biochemical analysis reveals that the azadiradione prenatally exposed mice brain exhibits about 2-3 fold increase in the level of Ube3a at postnatal day 25 along with a significant increase in some of its target proteins linked to synaptic function and plasticity, indicating the enduring effect of the drug on Ube3a expression. The prenatally azadiradione-exposed mice also display increased dendritic spines in the hippocampal and cortical pyramidal neurons. These results suggest that Ube3a might be one of the key players in azadiradione-induced developmental disabilities.

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10. Kamensek T, Iarocci G, Oruc I. Atypical daily visual exposure to faces in adults with autism spectrum disorder. Curr Biol;2024 (Sep 23);34(18):4197-4208.e4194.

Expert face processes are refined and tuned through a protracted development. Exposure statistics of the daily visual experience of neurotypical adults (the face diet) show substantial exposure to familiar faces. People with autism spectrum disorder (ASD) do not show the same expertise with faces as their non-autistic counterparts. This may be due to an impoverished visual experience with faces, according to experiential models of autism. Here, we present the first empirical report on the day-to-day visual experience of the faces of adults with ASD. Our results, based on over 360 h of first-person perspective footage of daily exposure, show striking qualitative and quantitative differences in the ASD face diet compared with those of neurotypical observers, which is best characterized by a pattern of reduced and atypical exposure to familiar faces in ASD. Specifically, duration of exposure to familiar faces was lower in ASD, and faces were viewed from farther distances and from viewpoints that were biased toward profile pose. Our results provide strong evidence that individuals with ASD may not be getting the experience needed for the typical development of expert face processes.

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11. Lewis S, Rinehart N, Mantilla A, Alvares G, Hiscock H, Marks D, Papadopoulos N. A pilot randomised controlled trial of a telehealth-delivered brief ‘Sleeping Sound Autism’ intervention for autistic children. Sleep Med;2024 (Sep 7);124:162-173.

BACKGROUND: Access to behavioural sleep intervention is beneficial for autistic children, yet many families face barriers to access associated with location and time. Preliminary evidence supports telehealth-delivered sleep intervention. However, no studies have evaluated brief telehealth sleep intervention. To address this, we evaluated telehealth delivery of the brief behavioural Sleeping Sound Autism intervention, using a two-armed, parallel-group, non-blinded, pilot randomised controlled trial (RCT) design (trial registration: ANZCTR12620001276943). METHOD: Sixty-one families of autistic children without intellectual disability (5-12 years, 46% female) with caregiver-reported moderate-severe behavioural sleep problems participated Australia-wide, randomised to an intervention (n = 30) or treatment as usual control group (n = 31). Intervention group participants were invited to attend two video-conference telehealth sessions and one follow-up phone call with a trained clinician. Survey data was collected from caregivers at baseline and three- and six-months post-randomisation, to evaluate feasibility, acceptability, and efficacy. Ten intervention group caregivers participated in end-of-study semi-structured interviews to explore their experiences. RESULTS: Forty-nine caregivers completed surveys. At baseline, 87% felt positive and 84% felt confident about participating via telehealth, and 75% believed the program would improve child sleep. At three-months, intervention group caregivers (n = 24) reported the usefulness (100%) of and preference for (71%) telehealth, and 95.8% would recommend this sleep program to other families. A significant group by time difference was observed in child sleep (Children’s Sleep Habits Questionnaire) with large effect sizes (d = 0.87-1.05), emotion and behaviour (Developmental Behavior Checklist 2) with moderate effect sizes (d = 0.40-0.57), and caregiver mental health (Kessler 10) with small to moderate effect sizes (d = 0.60-0.28), favouring the intervention group (n = 23). There were no significant group differences in child (Child Health Utility instrument) or caregiver (Assessment of Quality of Life) quality of life. However, there were individual differences in the clinical significance of improved child sleep. Qualitative data showed that whilst telehealth was convenient for caregivers, without attenuating the benefits of most key intervention features, not all children were able to engage effectively with the clinician via telehealth. CONCLUSIONS: This first pilot RCT of a brief telehealth behavioural sleep intervention for primary-school-aged autistic children suggests that telehealth delivery is acceptable, feasible and likely efficacious in improving sleep in the short-term. Providing families with ongoing choice of mode of delivery (telehealth/in-person) and examining the person-environment fit of telehealth for autistic children is important.

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12. Mahabala KY, Dutt A, Shenoy R, Lee Y, Thimmaiah C, Bhat S, Nayak A, Rao A. A scoping review on parental/caregiver challenges in maintaining oral hygiene among children with autism spectrum disorder. Int J Paediatr Dent;2024 (Sep 23)

BACKGROUND: Dental practitioners must develop feasible and evidence-based strategies to help parents/caregivers successfully implement daily oral hygiene measures among their children with autism spectrum disorder (ASD). AIM: This scoping review aimed to explore challenges faced by parents/caregivers while performing routine oral hygiene care among their children with ASD. DESIGN: A methodological framework recommended by Arksey and O’Malley and reporting guidelines prescribed by PRISMA-ScR were adopted. A database search was conducted across PubMed, Scopus, Web of Science, EMBASE, and ClinicalKey, to identify articles that addressed challenges faced by parents/caregivers while performing routine oral hygiene care for their children with ASD. RESULTS: The search yielded 4934 articles. Following the inclusion/exclusion criteria, nine articles were included in this scoping review. A qualitative analysis of included articles following the PICOS coding criteria revealed major themes. These consisted of various home oral hygiene practices followed by parents/caregivers, and challenges faced by them during home oral hygiene care owing to underlying sensory, behavioral, physical, and/or functional problems experienced by their children with ASD. CONCLUSION: Challenges experienced by parents/caregivers of children with ASD were numerous, which resulted in deviations from routine oral hygiene practices from recommended guidelines for the prevention of dental caries.

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13. Pérez-Cabral ID, Bernal-Mercado AT, Islas-Rubio AR, Suárez-Jiménez GM, Robles-García M, Puebla-Duarte AL, Del-Toro-Sánchez CL. Exploring Dietary Interventions in Autism Spectrum Disorder. Foods;2024 (Sep 23);13(18)

Autism spectrum disorder (ASD) involves social communication difficulties and repetitive behaviors, and it has a growing prevalence worldwide. Symptoms include cognitive impairments, gastrointestinal (GI) issues, feeding difficulties, and psychological problems. A significant concern in ASD is food selectivity, leading to nutrient deficiencies. Common GI issues in ASD, such as constipation and irritable bowel syndrome, stem from abnormal gut flora and immune system dysregulation. Sensory sensitivities and behavioral challenges exacerbate these problems, correlating with neurological symptom severity. Children with ASD also exhibit higher oxidative stress due to low antioxidant levels like glutathione. Therapeutic diets, including ketogenic, high-antioxidant, gluten-free and casein-free, and probiotic-rich diets, show potential in managing ASD symptoms like behavior, communication, GI issues, and oxidative stress, though the evidence is limited. Various studies have focused on different populations, but there is increasing concern about the impact among children. This review aims to highlight the food preferences of the ASD population, analyze the effect of the physicochemical and nutritional properties of foods on the selectivity in its consumption, GI problems, and antioxidant deficiencies in individuals with ASD, and evaluate the effectiveness of therapeutic diets, including diets rich in antioxidants, gluten-free and casein-free, ketogenic and essential fatty acids, and probiotic-rich diets in managing these challenges.

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14. Piro-Gambetti B, Greenlee J, Bolt D, Litzelman K, Hartley SL. Longitudinal pathways between parent depression and child mental health in families of autistic children. Dev Psychopathol;2024 (Sep 23):1-13.

Autistic children and their parents are at risk for mental health problems, but the processes driving these connections are unknown. Leveraging three data cycles (spaced M = 11.76 months, SD = 2.77) on 162 families with autistic children (aged 6-13 years), the associations between parent-child relationship quality (warmth and criticism), child mental health problems, and parent depression symptoms were examined. A complete longitudinal mediation model was conducted using structural equation modeling. Father depression mediated the link between child mental health problems and father critical comments (β = -0.017, p = 0.018; CI [-.023 – -.015]). Father report of child mental health problems mediated the association between father depression and father critical comments (β = 0.016, p = 0.040; CI [0.003-0.023]) as well as the association between father positive remarks and father depression (β = -0.009, p = 0.032; CI [-0.010 – -0.009]). Additionally, father positive remarks mediated the connection between father depression and child mental health problems (β = 0.022, p = 0.006; CI [0.019-0.034]). No mediation effects were present for mothers. Findings highlight that the mental health of parents and autistic children are intertwined. Interventions that improve the parent-child relationship may reduce the reciprocal toll of parent and child mental health problems.

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15. Toral-Lopez J, Gonzalez-Huerta LM. Novel 10q21.1-q22.1 duplication in a boy with minor facial dysmorphism, mild intellectual disability, autism spectrum disorder -like phenotype, and short stature. Cytogenet Genome Res;2024 (Sep 20):1-11.

INTRODUCTION: Duplications reported in 10q21-q22 include borderline to moderate intellectual disability, growth retardation, autism, attention deficit hyperactivity disorder, and minor craniofacial dysmorphism. CASE PRESENTATION: We present a patient with a novel 14.7 Mb de novo interstitial duplication at 10q21.1-q22.1 delineated by a high-definition (HD) single nucleotide polymorphism (SNP) array. The boy had minor facial dysmorphism, mild intellectual disability, an autism spectrum disorder-like phenotype, and short stature. CONCLUSION: This is the first case in which a novel 10q21.1-q22.1 duplication was detected by HD SNP array, expanding the spectrum of duplications seen in 10q21-q22. This report provides a detailed clinical examination of a patient with a 10q21.1-q22.1 duplication and suggests that brain development and cognitive function may be affected by an increased dosage sensitivity of the involved JMJD1C and EGR2 genes. This case contributes to the understanding of the genotype-phenotype relationship for genetic counselling and provides further evidence for the identification of a novel microduplication syndrome in 10q21-q22.

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16. Xu X, Li Y, Ding N, Zang Y, Sun S, Shen G, Song X. Quantitative assessment of brain structural abnormalities in children with autism spectrum disorder based on artificial intelligence automatic brain segmentation technology and machine learning methods. Psychiatry Res Neuroimaging;2024 (Sep 16);345:111901.

RATIONALE AND OBJECTIVES: To explore the characteristics of brain structure in Chinese children with autism spectrum disorder (ASD) using artificial intelligence automatic brain segmentation technique, and to diagnose children with ASD using machine learning (ML) methods in combination with structural magnetic resonance imaging (sMRI) features. METHODS: A total of 60 ASD children and 48 age- and sex-matched typically developing (TD) children were prospectively enrolled from January 2023 to April 2024. All subjects were scanned using 3D-T1 sequences. Automated brain segmentation techniques were utilized to obtain the standardized volume of each brain structure (the ratio of the absolute volume of brain structure to the whole brain volume). The standardized volumes of each brain structure in the two groups were statistically compared, and the volume data of brain areas with significant differences were combined with ML methods to diagnose and predict ASD patients. RESULTS: Compared with the TD group, the volumes of the right lateral orbitofrontal cortex, right medial orbitofrontal cortex, right pars opercularis, right pars triangularis, left hippocampus, bilateral parahippocampal gyrus, left fusiform gyrus, right superior temporal gyrus, bilateral insula, bilateral inferior parietal cortex, right precuneus cortex, bilateral putamen, left pallidum, and right thalamus were significantly increased in the ASD group (P< 0.05). Among six ML algorithms, support vector machine (SVM) and adaboost (AB) had better performance in differentiating subjects with ASD from those TD children, with their average area under curve (AUC) reaching 0.91 and 0.92, respectively. CONCLUSION: Automatic brain segmentation technology based on artificial intelligence can rapidly and directly measure and display the volume of brain structures in children with autism spectrum disorder and typically developing children. Children with ASD show abnormalities in multiple brain structures, and when paired with sMRI features, ML algorithms perform well in the diagnosis of ASD.

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17. Zavlis O, Tyrer P. The interface of autism and (borderline) personality disorder. Br J Psychiatry;2024 (Sep 23):1-2.

Prominent clinical perspectives posit that the interface of autism and (borderline) personality disorder manifests as either a misdiagnosis of the former as the latter or a comorbidity of both. In this editorial, we integrate these disparate viewpoints by arguing that personality difficulties are inherent to the autistic spectrum.

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