1. Ames JL, Anderson MC, Cronbach E, Lee C, Giwa Onaiwu M, Vallerie AM, Croen LA. Reproductive Health Care in Adolescents with Autism and Other Developmental Disabilities. Am J Obstet Gynecol;2024 (Jan 11)

BACKGROUND: Adults with developmental disabilities often have less access to reproductive health services than adults without these disabilities. However, little is known about how adolescents with developmental disabilities, including autism, access reproductive health care. OBJECTIVE: We aimed to characterize the utilization of reproductive health care services among autistic adolescents and adolescents with other developmental disabilities in comparison with typically developing adolescents. STUDY DESIGN: We conducted a cohort study of a sample of adolescents who were continuously enrolled members of Kaiser Permanente Northern California, an integrated healthcare system, from ages 14 to 18. The final analytic sample included 700 autistic adolescents, 836 adolescents with other developmental disabilities, and 2187 typically developing adolescents who sought care between 2000 and 2017. Using electronic health records, we obtained information on menstrual conditions, use of obstetric/gynecological care, and prescriptions of hormonal contraception. We compared utilization between groups using chi-squared tests and covariate-adjusted risk ratios estimated with modified Poisson regression. RESULTS: Autistic adolescents and adolescents with other developmental disabilities were significantly more likely to have diagnoses of menstrual disorders, polycystic ovary syndrome, and premenstrual syndrome than typically developing adolescents. These two groups also were less likely than typically developing peers to visit the OB/GYN or to use any form of hormonal contraception, including oral contraception, hormonal implants, and intrauterine devices. Adolescents in all three groups accessed hormonal contraception most frequently through their primary care provider, followed by an OB/GYN provider. CONCLUSIONS: Autistic adolescents and adolescents with other developmental disabilities are less likely than their typically developing peers to visit the OB/GYN and use hormonal contraception, suggesting possible care disparities that may persist into adulthood. Efforts to improve access to reproductive healthcare in these populations should target care delivered in both pediatric and OB/GYN settings.

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2. Bosetti C, Ferrini L, Ferrari AR, Bartolini E, Calderoni S. Children with Autism Spectrum Disorder and Abnormalities of Clinical EEG: A Qualitative Review. J Clin Med;2024 (Jan 3);13(1)

Over the last decade, the comorbidity between Autism Spectrum Disorder (ASD) and epilepsy has been widely demonstrated, and many hypotheses regarding the common neurobiological bases of these disorders have been put forward. A variable, but significant, prevalence of abnormalities on electroencephalogram (EEG) has been documented in non-epileptic children with ASD; therefore, several scientific studies have recently tried to demonstrate the role of these abnormalities as a possible biomarker of altered neural connectivity in ASD individuals. This narrative review intends to summarize the main findings of the recent scientific literature regarding abnormalities detected with standard EEG in children/adolescents with idiopathic ASD. Research using three different databases (PubMed, Scopus and Google Scholar) was conducted, resulting in the selection of 10 original articles. Despite an important lack of studies on preschoolers and a deep heterogeneity in results, some authors speculated on a possible association between EEG abnormalities and ASD characteristics, in particular, the severity of symptoms. Although this correlation needs to be more strongly elucidated, these findings may encourage future studies aimed at demonstrating the role of electrical brain abnormalities as an early biomarker of neural circuit alterations in ASD, highlighting the potential diagnostic, prognostic and therapeutic value of EEG in this field.

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3. Brown KA, Donise KR, Cancilliere MK, Aluthge DP, Chen ES. Characterizing Autism Spectrum Disorder and Predicting Suicide Risk for Pediatric Psychiatric Emergency Services Encounters. AMIA Annu Symp Proc;2023;2023:864-873.

Individuals diagnosed with autism spectrum disorder (ASD) are at a higher risk for mental health concerns including suicidal thoughts and behaviors (STB). Limited studies have focused on suicidal risk factors that are more prevalent or unique to the population with ASD. This study sought to characterize and classify youth presenting to the psychiatric emergency department (ED) for a chief complaint of STB. The results of this study validated that a high number of patients with ASD present to the ED with STB. There were important differences in clinical characteristics to those with ASD versus those without. Clinical features that showed important impact in predicting high suicide risk in the ASD cases include elements of the mental status exam such as affect, trauma symptoms, abuse history, and auditory hallucinations. Focused attention is needed on these unique differences in ASD cases so that suicide risk level can be appropriately and promptly addressed.

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4. Choi HJ. Cutting-Edge Research on Eating Disorders Beyond Eating: Comprehensive Understanding Linking Autism, Gut-Brain Axis, Gut Microbiota, Digital Tools, and Food Addiction. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):2-3.

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5. Chung KM, Chung E, Lee H. Behavioral Interventions for Autism Spectrum Disorder: A Brief Review and Guidelines With a Specific Focus on Applied Behavior Analysis. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):29-38.

We conducted a comprehensive review of behavioral and educational interventions for individuals with autism spectrum disorder (ASD). The most prominent type of intervention, Comprehensive Early Intervention, often referred to as Early Intensive Behavioral Intervention (EIBI), has been found to be particularly effective in improving intelligence and adaptive behaviors. The naturalistic developmental behavioral intervention, designed to enhance social and communication abilities, showed effectiveness in improving language, cognitive function, and social initiation. However, more studies are needed to examine its effectiveness. Intensive individualized intervention, which provides a tailored intervention for a specific target behavior, was effective in improving social skills and communication, as well as reducing sleep, eating, and toileting problems. Cognitive behavioral therapy (CBT) is the most effective method for dealing with emotional difficulties, but it has not been widely used because of the shortage of trained experts. Parent-mediated intervention (PMI) involves parents acquiring knowledge and specific skills to improve their child’s functioning or reduce challenging behaviors. Speech and language therapy, sensory integration, Treatment and Education of Autistic and related Communications Handicapped Children, developmental approaches, and social stories are frequently used interventions. However, evidence of their effectiveness has yet to be well established. Based on these findings, intervention recommendations for autism include EIBI, Early Start Denver Model, intensive individualized intervention, CBT, and PMI. The choice of intervention should be tailored to the individual’s needs and delivered by qualified professionals with expertise in the specific intervention.

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6. Chung US, Kim JH. Common Comorbid Condition of Patients With Autism Spectrum Disorder and Pharmacotherapy for Patients With Autism Spectrum Disorder. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):39-43.

This article describes common comorbid condtion of the autism spectrum disorder (ASD) and recommends treatment guidelines of pharmacotherapy for patients with ASD. More than 95% of people with ASD have at least one additional disorder and guidelines how to evaluate and treat comorbid conditions in patients with ASD and 7 recommendations for treatment with medication for ASD.

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7. Cuneo N, Floyd S, Goldberg AE. Word meaning is complex: Language-related generalization differences in autistic adults. Cognition;2024 (Jan 11);244:105691.

The current study marries two important observations. First, there is a growing recognition that word meanings need to be flexibly extended in new ways as new contexts arise. Second, as evidenced primarily within the perceptual domain, autistic individuals tend to find generalization more challenging while showing stronger veridical memory in comparison to their neurotypical peers. Here we report that a group of 80 autistic adults finds it more challenging to flexibly extend the meanings of familiar words in new ways than a group of 80 neurotypical peers, while the autistic individuals outperform the neurotypicals on a novel word-learning task that does not require flexible extension. Results indicate that recognized differences in generalization present an ongoing challenge for autistic adults in the domain of language, separate from social cognition, executive function, or the ability to assign single fixed meanings to new words.

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8. Farley KO, Forbes CA, Shaw NC, Kuzminski E, Ward M, Baynam G, Lassmann T, Fear VS. CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction. HGG Adv;2024 (Jan 11);5(1):100257.

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. These variants require functional validation in specialist laboratories, resulting in a diagnostic delay. In the interim, the finding is classified as a genetic variant of uncertain significance (VUS) and the affected individual remains undiagnosed. A VUS (PTCHD1 c. 2489T>G) was identified in a child with autistic behavior, global developmental delay, and hypotonia. Loss of function mutations in PTCHD1 are associated with autism spectrum disorder and intellectual disability; however, the molecular function of PTCHD1 and its role in neurodevelopmental disease is unknown. Here, we apply CRISPR gene editing and induced pluripotent stem cell (iPSC) neural disease modeling to assess the variant. During differentiation from iPSCs to neural progenitors, we detect subtle but significant gene signatures in synaptic transmission and muscle contraction pathways. Our work supports the causal link between the genetic variant and the child’s phenotype, providing evidence for the variant to be considered a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. In addition, our study provides molecular data on the role of PTCHD1 in the context of other neurodevelopmental disorders.

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9. Garcha J, Smith AP. Associations between Autistic and ADHD Traits and the Well-Being and Mental Health of University Students. Healthcare (Basel);2023 (Dec 20);12(1)

Research on autism and ADHD continues to increase, as does the research on well-being and mental health. There is a growing need to understand what factors impact mental health and well-being, and the question arises as to what factors impact mental health and well-being in autism and ADHD. The existing literature focuses on two different aspects when it comes to the well-being and mental health of autism in students. One aspect focuses on mental health and well-being in diagnosed neurodivergent individuals, and the other aspect focuses on associations between autistic and ADHD traits and mental health and well-being. In order to understand the impact on mental health in autism, an online survey using the Qualtrics platform was given to a sample of 430 university students. The survey used the well-being process questionnaire, the autism spectrum quotient, the ADHD self-report scale, and the strengths and difficulties questionnaire. The results showed significant correlations between anxiety, depression, and autistic and ADHD traits (all correlations > 0.2). These variables were also correlated with the well-being and SDQ outcomes and well-being predictors (all correlations > 0.2). The regression analyses showed significant associations between well-being outcomes and predictor variables and anxiety and depression, whereas the effects of autistic and ADHD traits were restricted to the SDQ outcomes (hyperactivity, conduct, and peer problems). Regression analyses were also conducted to determine whether a variable formed by combining autistic traits, ADHD, anxiety, and depression scores was a significant predictor of well-being and SDQ outcomes. The combined variable was associated with all outcome variables except the prosocial variable. This study provides the basis for further research for understanding the interaction between well-being, mental health, autism, and ADHD.

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10. Gong XR, You XR, Guo MR, Ding XY, Ma BX. Children autism spectrum disorder and gut microbiota: A bibliometric and visual analysis from 2000 to 2023. Medicine (Baltimore);2023 (Dec 29);102(52):e36794.

Autism spectrum disorder (ASD) has evolved from a narrow and rare childhood-onset disorder to a widely publicized and researched lifelong disease recognized as common and significantly heterogeneous. Researchers have suggested that gastrointestinal symptoms in ASD may be a manifestation of an underlying inflammatory process. However, there is a lack of bibliometric analysis of ASD and gut microbiota in children. Accordingly, this study conducts a bibliometric analysis of ASD and gut microbiota in children from 2000 to 2023, explores the current status and cutting-edge trends in the field of ASD and gut microbiota in children, and identifies new directions for future research. The literature on ASD and gut microbiota in children was screened using the Web of Science Core Collection from 2000 to 2023. Annual publications, countries, institutions, authors, journals, keywords, and references were visualized and analyzed using CiteSpace 5.8. R3 and VOSviewer1.6.18. This study included 1071 publications. Since the beginning of 2011, the overall number of articles shows an upward trend. The most productive country and institution are the United States and the University of California system, respectively. The most frequently cited author is Kang Dae-Wook, with 790 citations, who has contributed significantly to this field. Timothy Dinan is the most prolific author, with 34 articles. The journal with the most published articles on this topic is Nutrients, whereas PLOS One is the most cited journal. The most used keyword is « gut microbiota, » and the reference for the highest outbreak intensity is Hsiao. The research hotspots and trends predicted in this study provide a reference for further in-depth research in this field.

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11. Han JY, Cho YG, Jo DS, Park J. Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome. Int J Mol Sci;2023 (Dec 23);25(1)

16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad phenotypic variability and a diverse clinical phenotype. We describe the neurodevelopmental course and discordant clinical phenotypes observed within and between individuals with identical 16p11.2 microdeletions. An analysis with the CytoScan Dx Assay was conducted on a GeneChip System 3000Dx, and the sample signals were then compared to a reference set using the Chromosome Analysis Suite software version 3.1. Ten patients from six separate families were identified with 16p11.2 microdeletions. Nine breakpoints (BPs) 4-5 and one BP2-5 of the 16p11.2 microdeletion were identified. All patients with 16p11.2 microdeletions exhibited developmental delay and/or intellectual disability. Sixty percent of patients presented with neonatal hypotonia, but muscle weakness improved with age. Benign infantile epilepsy manifested between the ages of 7-10 months (a median of 8 months) in six patients (60%). Vertebral dysplasia was observed in two patients (20%), and mild scoliosis was noted in three patients. Sixty percent of patients were overweight. We present six unrelated Korean families, among which identical 16p11.2 microdeletions resulted in diverse developmental trajectories and discordant phenotypes. The clinical variability and incomplete penetrance observed in individuals with 16p11.2 microdeletions remain unclear, posing challenges to accurate clinical interpretation and diagnosis.

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12. Hwang JW, Lee JS. Korean Clinical Guideline for Autism Spectrum Disorder – Clinical Features, Course, Epidemiology, and Cause. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):8-14.

Autism spectrum disorder (ASD) is a heterogeneous developmental disorder characterized by impairments in two core areas: 1) social communication and interaction and 2) restricted and repetitive patterns of behaviors and interests. In general, ASD is known to be a lifelong disorder. Follow-up studies from childhood to adulthood have reported that the severity of the key symptoms ASD decreases over time. However, chronic health problems including mental health occur in many patients with ASD. The prevalence of ASD has increased from around 0.04% in the 1970s to 2.8% at present. The average age of diagnosis in developed countries is 38-120 months of age. Recent evidence suggests that biological factors which include genetic, congenital, immunological, neuroanatomical, biochemical, and environmental ones are important in causing autism. Until now, early signs and various risk factors of ASD have been suggested.

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13. Ibrahim K, Iturmendi-Sabater I, Vasishth M, Barron DS, Guardavaccaro M, Funaro MC, Holmes A, McCarthy G, Eickhoff SB, Sukhodolsky DG. Neural circuit disruptions of eye gaze processing in autism spectrum disorder and schizophrenia: An activation likelihood estimation meta-analysis. Schizophr Res;2024 (Jan 11);264:298-313.

BACKGROUND: Impairment in social cognition, particularly eye gaze processing, is a shared feature common to autism spectrum disorder (ASD) and schizophrenia. However, it is unclear if a convergent neural mechanism also underlies gaze dysfunction in these conditions. The present study examined whether this shared eye gaze phenotype is reflected in a profile of convergent neurobiological dysfunction in ASD and schizophrenia. METHODS: Activation likelihood estimation (ALE) meta-analyses were conducted on peak voxel coordinates across the whole brain to identify spatial convergence. Functional coactivation with regions emerging as significant was assessed using meta-analytic connectivity modeling. Functional decoding was also conducted. RESULTS: Fifty-six experiments (n = 30 with schizophrenia and n = 26 with ASD) from 36 articles met inclusion criteria, which comprised 354 participants with ASD, 275 with schizophrenia and 613 healthy controls (1242 participants in total). In ASD, aberrant activation was found in the left amygdala relative to unaffected controls during gaze processing. In schizophrenia, aberrant activation was found in the right inferior frontal gyrus and supplementary motor area. Across ASD and schizophrenia, aberrant activation was found in the right inferior frontal gyrus and right fusiform gyrus during gaze processing. Functional decoding mapped the left amygdala to domains related to emotion processing and cognition, the right inferior frontal gyrus to cognition and perception, and the right fusiform gyrus to visual perception, spatial cognition, and emotion perception. These regions also showed meta-analytic connectivity to frontoparietal and frontotemporal circuitry. CONCLUSION: Alterations in frontoparietal and frontotemporal circuitry emerged as neural markers of gaze impairments in ASD and schizophrenia. These findings have implications for advancing transdiagnostic biomarkers to inform targeted treatments for ASD and schizophrenia.

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14. Işık-Uslu AE, Çetin Z. Early intervention service needs of mothers with a child diagnosed with autism spectrum disorder in Turkey: A qualitative study. J Pediatr Nurs;2024 (Jan 9)

BACKGROUND: Early intervention services play a crucial role in the prevention and management of Autism Spectrum Disorder (ASD). With the increasing prevalence of ASD, understanding the specific needs of mothers and their children is essential for the development of effective interventions and support systems. METHODS: This interview study examines the early intervention service needs of Turkish mothers with children aged 2-6 who have been diagnosed with ASD. Semi-structured in-depth interviews were conducted with nine mothers. Thematic analysis was carried out following the guidance and six steps procedures described by Braun and Clarke. FINDINGS: The study’s findings reveal six distinct themes that encompass the needs expressed by the participating mothers: 1) psychological support needs, 2) social support needs, 3) financial support needs, 4) strengthening the family, 5) government-based enhancement, and 6) the need for social awareness. DISCUSSION: The findings underscore the significance of comprehensive early intervention services tailored to address the needs of mothers. The stressors associated with the impact of ASD on families are highlighted, aligning with Guralnick’s framework. The findings emphasize the need for holistic intervention programs and stress the importance of collaborative relationships among parents, educators, and service providers. APPLICATION TO PRACTICE: The practical implications of this study benefit healthcare professionals, policymakers, educators, and stakeholders. The emphasis lies in aligning interventions with the ASD needs of both mothers and children, ultimately aiding in the development of effective policies and the enhancement of the quality of care for individuals with ASD in Turkey.

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15. Jones J, Roberts E, Cockrell D, Higgins D, Sharma D. Barriers to Oral Health Care for Autistic Individuals-A Scoping Review. Healthcare (Basel);2024 (Jan 2);12(1)

BACKGROUND: Challenges in providing adequate dental care for individuals with Autism Spectrum Disorder (ASD) are recognised by parents, caregivers, and dental practitioners, leading to a higher prevalence of unaddressed dental needs. This scoping review aims to explore existing research on the obstacles to oral health care as perceived by individuals with ASD, as reported by their parents, caregivers, and dental professionals. METHODS: Systematic searches were conducted in DOSS, Medline, and PubMed databases using relevant keywords to identify relevant studies. Barriers identified within these studies were then categorised based on themes identified. RESULTS: The initial search yielded a total of 254 studies. Following the removal of duplicates and screening of titles and abstracts, 47 studies were further assessed against predetermined criteria, ultimately resulting in the inclusion of 16 articles in this scoping review. The identified barriers were grouped into five overarching themes: challenges in accessing appropriate care (n = 8), negative past experiences (n = 5), parental perceptions of the impact of ASD (n = 8), clinician bias (n = 2), and clinician education (n = 7). CONCLUSIONS: The findings of this review highlight the obstacles faced by individuals with ASD in obtaining routine oral health care. These results underscore the imperative for the development, testing, and implementation of tailored interventions focused on autism, as well as their integration into educational curricula for dental practitioners at various educational levels. This approach aims to enhance the delivery of equitable oral health care to individuals with ASD, starting from undergraduate through to postgraduate dental education.

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16. Kim J. Autism Spectrum Disorder and Eating Problems: The Imbalance of Gut Microbiota and the Gut-Brain Axis Hypothesis. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):51-56.

This review explores the complexities of autism spectrum disorder (ASD), primarily focusing on the significant eating challenges faced by children and adolescents with this neurodevelopmental condition. It is common for individuals with ASD to exhibit heightened sensitivity to various sensory aspects of food such as taste, texture, smell, and visual appeal, leading to restricted and less diverse diets. These dietary limitations are believed to contribute to an imbalance in the gut microbiota. This review elaborates on how these eating problems, coupled with the distinctive characteristics of ASD, might be influenced by and, in turn, influence the gut-brain axis, a bidirectional communication system between the gastrointestinal tract and the brain. This discussion aims to shed light on the multifaceted interactions and potential implications of diet, gut health, and neurological development and function in children and adolescents with ASD.

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17. Kim JI, Yoo HJ. Diagnosis and Assessment of Autism Spectrum Disorder in South Korea. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):15-21.

Autism spectrum disorder (ASD) is diagnosed by the clinical decision of a trained professional based on the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition or International Classification of Diseases 11th Revision diagnostic criteria. To obtain information for diagnostic formulation, professionals should explore detailed developmental history, and can use structured or semi-structured assessment tools to observe interaction between the child and parents or strangers. Diagnostic assessment should include a profile of the strength and weaknesses of the individual and should be conducted using an optimal approach by a multidisciplinary team with appropriate techniques and experience. Assessment of language, cognitive, neuropsychological, and adaptive functioning should be conducted in ASD individuals prior to establishing an individualized treatment plan. Genetic testing, brain magnetic resonance imaging or electroencephalogram testing can be considered for identification of underlying causes.

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18. Kim SI, Jang SY, Kim T, Kim B, Jeong D, Noh T, Jeong M, Hall K, Kim M, Yoo HJ, Han K, Hong H, Kim JG. Promoting Self-Efficacy of Individuals With Autism in Practicing Social Skills in the Workplace Using Virtual Reality and Physiological Sensors: Mixed Methods Study. JMIR Form Res;2024 (Jan 11);8:e52157.

BACKGROUND: Individuals with autism often experience heightened anxiety in workplace environments because of challenges in communication and sensory overload. As these experiences can result in negative self-image, promoting their self-efficacy in the workplace is crucial. Virtual reality (VR) systems have emerged as promising tools for enhancing the self-efficacy of individuals with autism in navigating social scenarios, aiding in the identification of anxiety-inducing situations, and preparing for real-world interactions. However, there is limited research exploring the potential of VR to enhance self-efficacy by facilitating an understanding of emotional and physiological states during social skills practice. OBJECTIVE: This study aims to develop and evaluate a VR system that enabled users to experience simulated work-related social scenarios and reflect on their behavioral and physiological data through data visualizations. We intended to investigate how these data, combined with the simulations, can support individuals with autism in building their self-efficacy in social skills. METHODS: We developed WorkplaceVR, a comprehensive VR system designed for engagement in simulated work-related social scenarios, supplemented with data-driven reflections of users’ behavioral and physiological responses. A within-subject deployment study was subsequently conducted with 14 young adults with autism to examine WorkplaceVR’s feasibility. A mixed methods approach was used, compassing pre- and postsystem use assessments of participants’ self-efficacy perceptions. RESULTS: The study results revealed WorkplaceVR’s effectiveness in enhancing social skills and self-efficacy among individuals with autism. First, participants exhibited a statistically significant increase in perceived self-efficacy following their engagement with the VR system (P=.02). Second, thematic analysis of the interview data confirmed that the VR system and reflections on the data fostered increased self-awareness among participants about social situations that trigger their anxiety, as well as the behaviors they exhibit during anxious moments. This increased self-awareness prompted the participants to recollect their related experiences in the real world and articulate anxiety management strategies. Furthermore, the insights uncovered motivated participants to engage in self-advocacy, as they wanted to share the insights with others. CONCLUSIONS: This study highlights the potential of VR simulations enriched with physiological and behavioral sensing as a valuable tool for augmenting self-efficacy in workplace social interactions for individuals with autism. Data reflection facilitated by physiological sensors helped participants with autism become more self-aware of their emotions and behaviors, advocate for their characteristics, and develop positive self-beliefs.

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19. Langenbach BP, Grotegerd D, Mulders PCR, Tendolkar I, van Oort J, Duyser F, van Eijndhoven P, Vrijsen JN, Dannlowski U, Kampmann Z, Koelkebeck K. Autistic and non-autistic individuals show the same amygdala activity during emotional face processing. Mol Autism;2024 (Jan 10);15(1):2.

BACKGROUND: Autistic and non-autistic individuals often differ in how they perceive and show emotions, especially in their ability and inclination to infer other people’s feelings from subtle cues like facial expressions. Prominent theories of autism have suggested that these differences stem from alterations in amygdala functioning and that amygdala hypoactivation causes problems with emotion recognition. Thus far, however, empirical investigations of this hypothesis have yielded mixed results and largely relied on relatively small samples. METHODS: In a sample of 72 autistic and 79 non-autistic participants, we conducted a study in which we used the Hariri paradigm to test whether amygdala activation during emotional face processing is altered in autism spectrum disorder, and whether common mental disorders like depression, ADHD or anxiety disorders influence any potential alterations in activation patterns. RESULTS: We found no evidence for differences in amygdala activation, neither when comparing autistic and non-autistic participants, nor when taking into account mental disorders or the overall level of functional impairment. LIMITATIONS: Because we used one basic emotion processing task in a Dutch sample, results might not generalise to other tasks and other populations. CONCLUSIONS: Our results challenge the view that autistic and non-autistic processing of emotional faces in the amygdala is vastly different and call for a more nuanced view of differences between non-autistic and autistic emotion processing.

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20. Lee M, Lee S, Sohn JW, Kim KW, Choi HJ. Assessment Methods for Problematic Eating Behaviors in Children and Adolescents With Autism Spectrum Disorder. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):57-65.

Autism spectrum disorder (ASD) can be associated with eating problems. However, currently, there is a lack of established guidelines for assessing and addressing eating behaviors in individuals with ASD. This gap in research exists due to the challenges associated with using traditional assessment methods, which may lead to discrepancies in responses and unintentional potential biases from caregivers. In this review, we provided a comprehensive overview of various eating behaviors commonly observed in individuals with ASD. These behaviors include 1) food neophobia, 2) selective eating, 3) binge eating, 4) food avoidance, 5) chewing and swallowing problems, 6) pica, 7) rumination, 8) rituals, and 9) problematic behaviors. Furthermore, we provide a perspective of utilizing digital tools: 1) augmentative and alternative communication; 2) ecological momentary assessment; and 3) video analysis, behavioral analysis, and facial expression analysis. This review explores existing assessment methods and suggests novel assessment aiding together.

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21. Mykins M, Bridges B, Jo A, Krishnan K. Multidimensional analysis of a social behavior identifies regression and phenotypic heterogeneity in a female mouse model for Rett syndrome. J Neurosci;2024 (Jan 10)

Regression is a key feature of neurodevelopmental disorders such as Autism Spectrum Disorder, Fragile X Syndrome and Rett syndrome (RTT). RTT is caused by mutations in the X-linked gene Methyl CpG-Binding Protein 2 (MECP2). It is characterized by an early period of typical development with subsequent regression of previously acquired motor and speech skills in girls. The syndromic phenotypes are individualistic and dynamic over time. Thus far, it has been difficult to capture these dynamics and syndromic heterogeneity in the preclinical Mecp2-heterozygous female mouse model (Het). The emergence of computational neuroethology tools allows for robust analysis of complex and dynamic behaviors to model endophenotypes in pre-clinical models. Towards this first step, we utilized DeepLabCut, a marker-less pose estimation software to quantify trajectory kinematics, and multidimensional analysis to characterize behavioral heterogeneity in Het in the previously benchmarked, ethologically relevant social cognition task of pup retrieval. We report the identification of two distinct phenotypes of adult Het: Het that display a delay in efficiency in early days and then improve over days like wild-type mice, and Het that regress and perform worse in later days. Furthermore, regression is dependent on age, behavioral context, and is identifiable in early days of retrieval. Together, the novel identification of two populations of Het suggests differential effects on neural circuitry, opens new avenues to investigate the underlying molecular and cellular mechanisms of heterogeneity, and design better studies for stratifying therapeutics.Significance Statement A long-standing problem in the field of neuropsychiatric disorders is the reliable identification of heterogeneous endophenotypes in animal models for the disorders. This problem has clear implications in identifying etiology and therapeutic targets. The emergence of accessible computational neuroethology tools is a powerful solution in systematic characterization of animal behaviors in resolving this heterogeneity. Using DeepLabCut and multidimensional analysis of an ethologically relevant social cognition task, we identify two distinct populations exhibiting delay in efficient behavior and regression in a female mouse model for Rett syndrome. The novel identification of two populations in genotypically-identical mice has profound implications on both etiology and personalized therapeutic approaches.

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22. Oommen AT, Timothy J, S G, Vv R. Malunited Right and Ununited Left Fracture Neck Femur in Autism with Seizures Treated with Valgus Osteotomy: A Case Report. JBJS Case Connect;2024 (Jan 1);14(1)

CASE: An 18-year-old autistic boy with seizure disorder had a 4-month-old hip injury with a similar right hip injury 6 months earlier. X-rays revealed an ununited fracture neck femur on the left and a malunited fracture neck femur on the right hip. Magnetic resonance imaging indicated preserved head vascularity. Valgus osteotomy and double-angle plate fixation of both hips were performed at an interval of 2 months. CONCLUSION: Delayed presentation bilateral neck fractures are rare. X-rays showed healed fractures with no avascular necrosis in both hips at 2-year 6-month follow-up. Valgus osteotomy is ideal and relevant for osteosynthesis in selected ununited femur neck fractures.

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23. Rai D, Webb D, Lewis A, Cotton L, Norris JE, Alexander R, Baldwin DS, Brugha T, Cochrane M, Del Piccolo MC, Glasson EJ, Hatch KK, Kessler D, Langdon PE, Leonard H, MacNeill SJ, Mills N, Morales MV, Morgan Z, Mukherjee R, Realpe AX, Russell A, Starkstein S, Taylor J, Turner N, Thorn J, Welch J, Wiles N. Sertraline for anxiety in adults with a diagnosis of autism (STRATA): study protocol for a pragmatic, multicentre, double-blind, placebo-controlled randomised controlled trial. Trials;2024 (Jan 11);25(1):37.

BACKGROUND: Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed to manage anxiety in adults with an autism diagnosis. However, their effectiveness and adverse effect profile in the autistic population are not well known. This trial aims to determine the effectiveness and cost-effectiveness of the SSRI sertraline in reducing symptoms of anxiety and improving quality of life in adults with a diagnosis of autism compared with placebo and to quantify any adverse effects. METHODS: STRATA is a two-parallel group, multi-centre, pragmatic, double-blind, randomised placebo-controlled trial with allocation at the level of the individual. It will be delivered through recruiting sites with autism services in 4 regional centres in the United Kingdom (UK) and 1 in Australia. Adults with an autism diagnosis and a Generalised Anxiety Disorder Assessment (GAD-7) score ≥ 10 at screening will be randomised 1:1 to either 25 mg sertraline or placebo, with subsequent flexible dose titration up to 200 mg. The primary outcome is GAD-7 scores at 16 weeks post-randomisation. Secondary outcomes include adverse effects, proportionate change in GAD-7 scores including 50% reduction, social anxiety, obsessive-compulsive symptoms, panic attacks, repetitive behaviours, meltdowns, depressive symptoms, composite depression and anxiety, functioning and disability and quality of life. Carer burden will be assessed in a linked carer sub-study. Outcome data will be collected using online/paper methods via video call, face-to-face or telephone according to participant preference at 16, 24 and 52 weeks post-randomisation, with brief safety checks and data collection at 1-2, 4, 8, 12 and 36 weeks. An economic evaluation to study the cost-effectiveness of sertraline vs placebo and a QuinteT Recruitment Intervention (QRI) to optimise recruitment and informed consent are embedded within the trial. Qualitative interviews at various times during the study will explore experiences of participating and taking the trial medication. DISCUSSION: Results from this study should help autistic adults and their clinicians make evidence-based decisions on the use of sertraline for managing anxiety in this population. TRIAL REGISTRATION: ISRCTN, ISRCTN15984604 . Registered on 08 February 2021. EudraCT 2019-004312-66. ANZCTR ACTRN12621000801819. Registered on 07 April 2021.

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24. Roberts J. Ableism, Code-Switching, and Camouflaging: A Letter to the Editor on Gerlach-Houck and DeThorne (2023). Lang Speech Hear Serv Sch;2024 (Jan 11);55(1):217-223.

PURPOSE: This letter to the editor is in response to the Gerlach-Houck and DeThorne (2023) epilogue regarding their proposal for speech-language pathologists to offer Autistic code-switching (Autistic masking and camouflage) as a viable, non-ableist social communication tool that Autistic clients may choose to use in « high-stakes » social situations. In connection with Autistic code-switching, the authors reference « the debate » regarding code-switching in « African American Vernacular English speakers, » specifically, whether « standard » English should be encouraged as a way to access « conventional forms of success. » CONCLUSION: Professionally training Autistic clients to « code-switch » with the goal of improving the client’s chances of accessing conventional forms of success is essentially training Autistic masking and camouflaging. This type of therapy reinforces to both the Autistic client, as well as society, the position that hiding a person’s Autistic traits is a pathway to acceptance and success. Autistic camouflaging has detrimental ramifications for mental health outcomes; perpetuates both internalized and societal stigma; hinders bias and discrimination deconstruction; reinforces ableist values; and fails to dismantle power inequities and social barriers that lead to marginalization, oppression, and exclusion.

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25. Sami W, Ahmad MS, Shaik RA, Miraj M, Ahmad S, Molla MH. Oral Health Statuses of Children and Young Adults with Autism Spectrum Disorder: An Umbrella Review. J Clin Med;2023 (Dec 22);13(1)

This study aimed to comprehensively evaluate the oral health statuses of children and adults within the autism spectrum disorder (ASD) population through an umbrella review approach. The prevalence of dental caries, periodontal disease, and associated variables were investigated across selected studies. A systematic search was conducted across databases including PubMed, Scopus, EMBASE, Science Citation Index, Science Direct, Web of Science, MEDLINE, and Wiley Online Library to identify relevant studies. The assessed variables included dental caries prevalence, periodontal disease prevalence, oral hygiene indicators, and the necessity of dental treatment. The pooled prevalence rates, odds ratios, and standardized mean differences were calculated where applicable. The pooled prevalence of dental caries among ASD individuals ranged from 60.6% to 67.3%, while the periodontal disease prevalence ranged from 59.8% to 69.4%. High rates of dental treatment under general anesthesia were reported. Heterogeneous dental caries and periodontal disease prevalence rates were identified, highlighting the need for collaboration and preventive care. Several studies also reported higher prevalence rates of dental trauma and self-inflicted oral injuries among individuals with ASD. However, the review also identified significant methodological limitations in the included studies, including inconsistency in oral health assessment methods and potential bias. The necessity for targeted policies due to high prevalence rates and the requirement for integrated care systems in high DMFT regions were also observed. The umbrella review synthesized diverse findings, revealing variations in dental caries and periodontal disease prevalence among ASD individuals. This review underscores the need for tailored interventions and policies to address oral health disparities. It highlights the necessity of integrated care systems, methodological improvements, and longitudinal studies to comprehensively address the multifaceted oral health challenges within the ASD population.

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26. Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP. Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology. Mol Psychiatry;2024 (Jan 11)

Propionic acidemia (PA) is an autosomal recessive condition (OMIM #606054), wherein pathogenic variants in PCCA and PCCB impair the activity of propionyl-CoA carboxylase. PA is associated with neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorder (ASD); however, the correlates and mechanisms of these outcomes remain unknown. Using data from a subset of participants with PA enrolled in a dedicated natural history study (n = 33), we explored associations between neurodevelopmental phenotypes and laboratory parameters. Twenty (61%) participants received an ID diagnosis, and 12 of the 31 (39%) who were fully evaluated received the diagnosis of ASD. A diagnosis of ID, lower full-scale IQ (sample mean = 65 ± 26), and lower adaptive behavior composite scores (sample mean = 67 ± 23) were associated with several biomarkers. Higher concentrations of plasma propionylcarnitine, plasma total 2-methylcitrate, serum erythropoietin, and mitochondrial biomarkers plasma FGF21 and GDF15 were associated with a more severe ID profile. Reduced 1-(13)C-propionate oxidative capacity and decreased levels of plasma and urinary glutamine were also associated with a more severe ID profile. Only two parameters, increased serum erythropoietin and decreased plasma glutamine, were associated with ASD. Plasma glycine, one of the defining features of PA, was not meaningfully associated with either ID or ASD. Thus, while both ID and ASD were commonly observed in our PA cohort, only ID was robustly associated with metabolic parameters. Our results suggest that disease severity and associated mitochondrial dysfunction may play a role in CNS complications of PA and identify potential biomarkers and candidate surrogate endpoints.

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27. Slater H, Yin Z, Walsh CG. Characterization of Adult Patients with Autism Spectrum Disorder that Use Patient Portal. AMIA Annu Symp Proc;2023;2023:1267-1276.

Patients with autism spectrum disorder (ASD) access healthcare frequently, yet little is known about their interactions with patient portals. To describe adults with ASD using patient portal, we conducted regression analyses of visit history, demographics, co-occurring conditions and diagnoses, and patient portal use to determine factors most indicative of whether a patient 1) has sent at least one message (via patient or proxy) and 2) has at least one message sent on their behalf via a proxy account after they turned 18 years old. The 2,412-person cohort had 996 (41.3%) patients who had sent at least one message on their account with 129 (5.3%) of patients having at least one proxy message. This study found that adults with ASD are less likely to use messaging functionality and more likely to have a message sent via proxy than other patient populations. Comorbid mental illness was correlated with using messaging functionality.

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28. Son JW, Nam SH. Basic Management Strategies by Life Cycle for Treatment of the Persons With Autism Spectrum Disorder. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):22-28.

Interventions for targeted symptoms are important when setting treatment strategies for individuals with autism spectrum disorder (ASD) and developmental disabilities. Especially, the goal should be to achieve individual « niche construction » by allowing them to select and adjust an environment where they can demonstrate their special characteristics and strengths. In addition, these choices should vary depending on the stage of development of each person with ASD and developmental disabilities. It is necessary to establish a detailed and systematic plan for diagnosis and treatment necessary for infants and toddlers, school placement in school age, and employment or self-reliance in adult transition period to establish customized treatment strategies that fit the individual level of people with ASD and developmental disabilities.

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29. Tamm L, Hamik EM, Zoromski AK, Duncan A. Use of the Weekly Calendar Planning Activity to Assess Executive Function in Adolescents With Autism Spectrum Disorder. Am J Occup Ther;2024 (Jan 1);78(1)

IMPORTANCE: Youths with autism spectrum disorder (ASD) have challenges with executive function (EF). However, there are few measures to objectively assess EF, such as time management and prioritization. The Weekly Calendar Planning Activity (WCPA) is a promising performance-based EF measure that has rarely been used with youths with ASD. OBJECTIVE: To characterize the performance of youths with ASD on the WCPA and the association of WCPA performance with caregiver-rated EF. DESIGN: Observational and summary data obtained during a baseline evaluation for a research study. SETTING: Middle school. PARTICIPANTS: Thirty-nine adolescents with ASD and without an intellectual disability. METHOD: Youth were administered the WCPA; caregivers completed EF ratings. Descriptive statistics characterized WCPA performance. Correlations between WCPA scores and age, IQ, and EF ratings were computed. RESULTS: The majority of youth performed poorly on the WCPA and lacked insight into their poor performance. Many struggled to enter appointments. Appointment accuracy was <30%. The most common errors were location errors. Appointment accuracy and planning time were moderately associated with IQ but not with caregiver-rated EF or age. CONCLUSIONS AND RELEVANCE: Overall, the WCPA was cognitively demanding for youths with ASD without an intellectual disability. These results have implications for using evidence-based strategies to teach adolescents with ASD how to manage their time and plan and prioritize homework assignments, upcoming tests or quizzes, and extracurricular activities. Plain-Language Summary: Youths with autism spectrum disorder have significant problems with executive function, particularly organization, prioritization, time management, and planning. There are few objective, performance-based measures of executive function, especially those that can be used with autistic youths. To our knowledge, this study is the first to use the Weekly Calendar Planning Activity (WCPA) with autistic adolescents who do not have an intellectual disability. The WCPA captured their deficits related to executive function and could be a useful tool for assessment and treatment planning.

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30. Vacy K, Thomson S, Moore A, Eisner A, Tanner S, Pham C, Saffrey R, Mansell T, Burgner D, Collier F, Vuillermin P, O’Hely M, Boon WC, Meikle P, Burugupalli S, Ponsonby AL. Cord blood lipid correlation network profiles are associated with subsequent attention-deficit/hyperactivity disorder and autism spectrum disorder symptoms at 2 years: a prospective birth cohort study. EBioMedicine;2024 (Jan 9);100:104949.

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental conditions with early life origins. Alterations in blood lipids have been linked to ADHD and ASD; however, prospective early life data are limited. This study examined (i) associations between the cord blood lipidome and ADHD/ASD symptoms at 2 years of age, (ii) associations between prenatal and perinatal predictors of ADHD/ASD symptoms and cord blood lipidome, and (iii) mediation by the cord blood lipidome. METHODS: From the Barwon Infant Study cohort (1074 mother-child pairs, 52.3% male children), child circulating lipid levels at birth were analysed using ultra-high-performance liquid chromatography-tandem mass spectrometry. These were clustered into lipid network modules via Weighted Gene Correlation Network Analysis. Associations between lipid modules and ADHD/ASD symptoms at 2 years, assessed with the Child Behavior Checklist, were explored via linear regression analyses. Mediation analysis identified indirect effects of prenatal and perinatal risk factors on ADHD/ASD symptoms through lipid modules. FINDINGS: The acylcarnitine lipid module is associated with both ADHD and ASD symptoms at 2 years of age. Risk factors of these outcomes such as low income, Apgar score, and maternal inflammation were partly mediated by higher birth acylcarnitine levels. Other cord blood lipid profiles were also associated with ADHD and ASD symptoms. INTERPRETATION: This study highlights that elevated cord blood birth acylcarnitine levels, either directly or as a possible marker of disrupted cell energy metabolism, are on the causal pathway of prenatal and perinatal risk factors for ADHD and ASD symptoms in early life. FUNDING: The foundational work and infrastructure for the BIS was sponsored by the Murdoch Children’s Research Institute, Deakin University, and Barwon Health. Subsequent funding was secured from the Minderoo Foundation, the European Union’s Horizon 2020 research and innovation programme (ENDpoiNTs: No 825759), National Health and Medical Research Council of Australia (NHMRC) and Agency for Science, Technology and Research Singapore [APP1149047], The William and Vera Ellen Houston Memorial Trust Fund (via HOMER Hack), The Shepherd Foundation, The Jack Brockhoff Foundation, the Scobie & Claire McKinnon Trust, the Shane O’Brien Memorial Asthma Foundation, the Our Women Our Children’s Fund Raising Committee Barwon Health, the Rotary Club of Geelong, the Ilhan Food Allergy Foundation, Geelong Medical and Hospital Benefits Association, Vanguard Investments Australia Ltd, the Percy Baxter Charitable Trust, and Perpetual Trustees.

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31. Willinger Y, Friedland Cohen DR, Turgeman G. Exogenous IL-17A Alleviates Social Behavior Deficits and Increases Neurogenesis in a Murine Model of Autism Spectrum Disorders. Int J Mol Sci;2023 (Dec 28);25(1)

Among the proposed mechanisms for autism spectrum disorders (ASD) is immune dysregulation. The proinflammatory cytokine Interleukine-17A (IL-17A) was shown to play a key role in mediating immune-related neurodevelopmental impairment of social behavior. Nevertheless, post-developmental administration of IL-17A was found to increase social behavior. In the present study, we explored the effect of post-developmental administration of IL-17A on ASD-like behaviors induced by developmental exposure to valproic acid (VPA) at postnatal day 4. At the age of seven weeks, VPA-exposed mice were intravenously injected twice with recombinant murine IL-17A (8 μg), and a week later, they were assessed for ASD-like behavior. IL-17A administration increased social behavior and alleviated the ASD-like phenotype. Behavioral changes were associated with increased serum levels of IL-17 and Th17-related cytokines. Exogenous IL-17A also increased neuritogenesis in the dendritic tree of doublecortin-expressing newly formed neurons in the dentate gyrus. Interestingly, the effect of IL-17A on neuritogenesis was more noticeable in females than in males, suggesting a sex-dependent effect of IL-17A. In conclusion, our study suggests a complex role for IL-17A in ASD. While contributing to its pathology at the developmental stage, IL-17 may also promote the alleviation of behavioral deficits post-developmentally by promoting neuritogenesis and synaptogenesis in the dentate gyrus.

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32. Wu D, Wolff JJ, Ravi S, Elison JT, Estes A, Paterson S, St John T, Abdi H, Moraglia LE, Piven J, Swanson MR. Infants who develop autism show smaller inventories of deictic and symbolic gestures at 12 months of age. Autism Res;2024 (Jan 10)

Gestures are an important social communication skill that infants and toddlers use to convey their thoughts, ideas, and intentions. Research suggests that early gesture use has important downstream impacts on developmental processes, such as language learning. However, autistic children are more likely to have challenges in their gestural development. The current study expands upon previous literature on the differences in gesture use between young autistic and non-autistic toddlers by collecting data using a parent-report questionnaire called the MCDI-Words and Gestures at three time points, 12, 18, and 24 months of age. Results (N = 467) showed that high-likelihood infants who later met diagnostic criteria for ASD (n = 73 HL-ASD) have attenuated gesture growth from 12 to 24 months for both deictic gestures and symbolic gestures when compared to high-likelihood infants who later did not meet criteria for ASD (n = 249 HL-Neg) and low-likelihood infants who did not meet criteria for ASD (n = 145 LL-Neg). Other social communicative skills, like play behaviors and imitation, were also found to be impacted in young autistic children when compared to their non-autistic peers. Understanding early differences in social communication growth before a formal autism diagnosis can provide important insights for early intervention.

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33. Yenkoyan K, Mkhitaryan M, Bjørklund G. Environmental Risk Factors in Autism Spectrum Disorder: A Narrative Review. Curr Med Chem;2024 (Jan 10)

Existing evidence indicates that environmental factors might contribute up to 50% of the variance in autism spectrum disorder (ASD) risk. This structured narrative review offers a comprehensive synthesis of current knowledge on environmental risk factors in ASD, including evaluation of conflicting evidence, exploration of underlying mechanisms, and suggestions for future research directions. Analysis of diverse epidemiological investigations indicates that certain environmental factors, including advanced parental age, preterm birth, delivery complications, and exposure to toxic metals, drugs, air pollutants, and endocrine-disrupting chemicals, are linked to an increased ASD risk through various mechanisms such as oxidative stress, inflammation, hypoxia, and its consequences, changes in neurotransmitters, disruption of signaling pathways and some others. On the other hand, pregnancy-related factors such as maternal diabetes, maternal obesity, and caesarian section show a weaker association with ASD risk. At the same time, other environmental factors, such as vaccination, maternal smoking, or alcohol consumption, are not linked to the risk of ASD. Regarding nutritional elements data are inconclusive. These findings highlight the significance of environmental factors in ASD etiology and emphasize that more focused research is needed to target the risk factors of ASD. Environmental interventions targeting modifiable risk factors might offer promising avenues for ASD prevention and treatment.

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34. Yoo HJ. Understanding Evidence-Based Practice for Autism Spectrum Disorder: Korean Practice Clinical Guidelines. Soa Chongsonyon Chongsin Uihak;2024 (Jan 1);35(1):1.

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