1. Atherton G, Piovesan A, Cross L. Autism, pets, and the importance of seeing human. Autism research : official journal of the International Society for Autism Research. 2023.

People often see the human in the nonhuman, a process called anthropomorphism. Anthropomorphism is particularly prolific regarding the humanization of pets. Some research suggests that people with autism may not anthropomorphize to the same degree as neurotypicals. In this study, we explored whether there were differences in how autistic and neurotypical pet owners anthropomorphized their pets. We also examined differences in levels of connectedness to nature and experiences of loneliness and how this corresponded to autistic traits in the entire sample. We found anthropomorphism was as common among autistic pet owners as in neurotypicals. However, autistic pet owners reported greater loneliness and were more likely to substitute pets for people. We also found that neurotypical pet owners rated pets more highly on physical, non-anthropomorphic traits (i.e., muscular, active). In contrast, autistic pet owners were likelier to rate pets equally between physical and anthropomorphic traits. Moreover, we found that anthropomorphism and connection to nature were positively correlated with autistic traits. These findings challenge accounts stating that individuals with autism may not anthropomorphize to the same degree as neurotypicals. Implications for animal-based interventions supporting adults on the spectrum are discussed.

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2. Aydin Ü, Capp SJ, Tye C, Colvert E, Lau-Zhu A, Rijsdijk F, Palmer J, McLoughlin G. Quality of life, functional impairment and continuous performance task event-related potentials (ERPs) in young adults with ADHD and autism: A twin study. JCPP advances. 2022; 2(3): e12090.

BACKGROUND: Young adulthood is a key developmental period for understanding outcomes of childhood onset attention-deficit/hyperactivity disorder (ADHD) and autism. Measurement of functional impairment and quality of life (QoL) can provide important information on the real-life challenges associated with these conditions. Event-related potential (ERP) measures from the continuous performance task (CPT) have long been identified as altered in ADHD and autism but the role of these functions in the aetiological pathway to the disorders and associated impact on quality of life in young adulthood is unknown. METHOD: We investigated the relationships between ADHD and autism, functional impairment, quality of life, and ERP measures from the cued CPT (CPT-OX) in a young adult twin sample (566 participants aged 22.43 ± 0.96 years old). RESULTS: We observed significant phenotypic correlations between ADHD/autism and lower quality of life with specific genetic overlap between ADHD and physical health, psychological, and environmental aspects. We found significant phenotypic and genetic correlations between ADHD and functional impairment in all domains, as well as between autism and impairment in social functioning and lower impairment in risk-taking. Both ADHD and autism were associated with attenuated amplitude of inhibitory and proactive control ERPs, with large genetic contributions to the overlap. We also found significant phenotypic correlations between these ERP measures and Weiss Functional Impairment Rating Scale (WFIRS) and QoL. CONCLUSION: This is the first study to investigate the phenotypic and genetic relationships between ADHD and autism, functional impairment, quality of life and ERP measures in young adulthood. Our findings could represent a step towards identifying ERP measures that are related to behaviour in the absence of overt symptoms.

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3. Bian WJ, González OC, de Lecea L. Adolescent sleep defects and dopaminergic hyperactivity in mice with a schizophrenia-linked Shank3 mutation. Sleep. 2023; 46(7).

Shank3 is a shared risk gene for autism spectrum disorders and schizophrenia. Sleep defects have been characterized for autism models with Shank3 mutations; however, evidence has been lacking for the potential sleep defects caused by Shank3 mutation associated with schizophrenia and how early in development these defects may occur. Here we characterized the sleep architecture of adolescent mice carrying a schizophrenia-linked, R1117X mutation in Shank3. We further employed GRABDA dopamine sensor and fiber photometry to record dopamine release in the nucleus accumbens during sleep/wake states. Our results show that homozygous mutant R1117X mice have significantly reduced sleep in the dark phase during adolescence, altered electroencephalogram power, especially during the rapid-eye-movement sleep, and dopamine hyperactivity during sleep but not during wakefulness. Further analyses suggest that these adolescent defects in sleep architecture and dopaminergic neuromodulation tightly correlate with the social novelty preference later in adulthood and predict adult social performance during same-sex social interactions. Our results provide novel insights into the sleep phenotypes in mouse models of schizophrenia and the potential use of developmental sleep as a predictive metric for adult social symptoms. Together with recent studies in other Shank3 models, our work underscores the idea that Shank3-involved circuit disruptions may be one of the shared pathologies in certain types of schizophrenia and autism. Future research is needed to establish the causal relationship among adolescent sleep defects, dopaminergic dysregulation, and adult behavioral changes in Shank3 mutation animals and other models.

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4. Christoforou M, Jones EJH, White P, Charman T. Executive function profiles of preschool children with autism spectrum disorder and attention-deficit/hyperactivity disorder: A systematic review. JCPP advances. 2023; 3(1): e12123.

BACKGROUND: Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) are both associated with differences in Executive Functioning (EF). There is lack of clarity around the specificity or overlap of EF differences in early childhood when both disorders are first emerging. METHOD: This systematic review aims to delineate preschool EF profiles by examining studies comparing the EF profiles of children with and without ASD or ADHD. Five electronic databases were systematically searched (last search in May 2022) to identify published, quantitative studies of global and specific EF (Inhibition, Shifting, Working Memory (WM), Planning and Attentional Control), comparing children aged 2-6 with a diagnosis of ASD or ADHD to peers without ASD or ADHD. RESULTS: Thirty-one empirical studies (10 ADHD and 21 ASD studies) met criteria for inclusion. EF profiles in preschool ASD were characterised by consistent Shifting, and, in most cases, Inhibition impairments. ADHD studies consistently reported impairments in Inhibition and Planning, and in most cases WM. Findings with regards to sustained Attention and Shifting in ADHD and WM and Planning in ASD were mixed. CONCLUSIONS: Overall, current evidence indicates overlap but also some specificity in EF impairments in preschool ASD and ADHD. There were differences in the degree to which individual domains were impaired, with Shifting more consistently impaired in ASD, and Inhibition, WM and Planning in ADHD. Methodological issues and differences in methods of outcome measurement could potentially underlie mixed findings, as informant-based measures revealed more robust EF impairments than laboratory-based tasks.

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5. Clarke KA, Siegel M, Williams DL. The Relationship Between Augmentative and Alternative Communication Use by Pediatric Psychiatric Inpatients With Autism Spectrum Disorder and Interfering Behaviors. American journal of speech-language pathology. 2023: 1-17.

PURPOSE: Previous research conducted by Williams et al. (2018) using data from the Autism Inpatient Collection (AIC) found a weak and inconsistent association between verbal ability and the severity of interfering behaviors; however, adapting/coping scores were significantly associated with self-injury, stereotypy, and irritability (including aggression and tantrums). The previous study did not account for access to or use of alternative forms of communication in their sample population. This study uses retrospective data to investigate the association between verbal ability and augmentative and alternative communication (AAC) use and the presence of interfering behaviors in individuals with autism who have complex behavioral profiles. METHOD: The sample included 260 autistic inpatients, ages 4-20 years, from six psychiatric facilities, enrolled during the second phase of the AIC when detailed information about AAC use was collected. Measures included AAC use, method, and function; comprehension and production of language; receptive vocabulary; nonverbal IQ; severity of interfering behaviors; and the presence and severity of repetitive behaviors. RESULTS: Lower language/communication abilities were related to increased repetitive behaviors and stereotypies. More specifically, these interfering behaviors appeared to be related to communication in those individuals who were candidates for AAC but who were not reported to have access to it. Although the use of AAC did not predict a decrease in interfering behaviors, receptive vocabulary scores-as measured by the Peabody Picture Vocabulary Test-Fourth Edition-were positively correlated with the presence of interfering behaviors in participants with the most complex communication needs. CONCLUSIONS: The communication needs of some individuals with autism may be unmet, prompting the use of interfering behaviors as a form of communication. Further investigation of the functions of interfering behaviors and the related functions of communication skills may provide greater support for an increased focus on the provision of AAC to prevent and ameliorate interfering behaviors in individuals with autism.

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6. Davies J, Remington A, Buckley C, Crane L, Smalley K. ‘It seems like a luxury to be able to offer that’: Factors influencing the implementation of annual health checks for autistic people in England. Autism : the international journal of research and practice. 2023: 13623613231182011.

Autistic people are more likely to have mental and physical health problems than non-autistic people. Annual health checks could reduce these problems by finding and treating them early. Annual health checks are yearly medical appointments where a primary healthcare provider (such as a doctor or nurse) can check things like a patient’s weight and heart rate and ask if they have any worries about their health. In this study, we wanted to understand what might encourage primary healthcare providers to use annual health checks with their autistic patients. First, we spoke to 10 autistic people and 11 primary healthcare providers. Using the findings from these conversations, we created an online survey for primary healthcare providers in England. We used the findings from the interviews and survey to help us understand what would encourage primary healthcare providers to offer annual health checks for autistic people. Our participants said that a lack of time and staff would make it hard to provide health checks. To help, they said other members of staff (such as nurses and healthcare assistants) could do the health checks, rather than doctors. They also said parts of the process could be made automatic to save time (e.g. sending automatic reminders). Knowledge about autism was important too (e.g. knowing about the common conditions autistic people have, and how to best support autistic patients). Participants said training on these topics, produced and delivered with autistic people, could encourage them to use annual health checks with their autistic patients.

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7. Ette EI, Fadiran EO, Missling C, Hammond E. The New Big Is Small: Leveraging Knowledge from Small Trials for Rare Disease Drug Development – Blarcamesine for Rett Syndrome. British journal of clinical pharmacology. 2023.

Big data in drug development may not satisfactorily address the demands of precision medicine in a rare disease population, making the use of smaller clinical trials necessary. Consequently, the use of innovative design and analysis of these clinical trials using model-informed approaches have become indispensable. This requires informative exposure-outcome analysis, together with formal statistical analysis, which should include the strength of evidence for a study outcome. We demonstrate how knowledge can be gained, with supporting strength of evidence, from a small (data) clinical trial with a low dose of blarcamesine in the treatment of Rett syndrome (RTT). Based on a small data paradigm, pharmacometrics item response theory modeling and Bayes factor analysis were used to show that blarcamesine is efficacious in RTT.

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8. Fang X, Fee T, Davis J, Stolerman ES, Caylor RC. Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay. Cold Spring Harbor molecular case studies. 2023; 9(3).

Ankyrins are a family of proteins that link integral membrane proteins to the underlying spectrin-actin cytoskeleton and play a key role in activities such as cell motility, activation, proliferation, cell-cell contact, and the maintenance of specialized membrane domains. Ankyrin 3 (ANK3) is one of the three major subtypes of the ankyrin protein family. Ankryin genes are ubiquitously expressed, but their expression is highest in the brain. In the central nervous system, ankyrins have critical roles at the axonal initial segment, the nodes of Ranvier, and at synapses. To date, pathogenic variants in ANK3 have been reported in individuals with neuropsychiatric, cognitive, and neurodevelopmental disorders. The clinical severity is variable in these individuals with both autosomal recessive and autosomal dominant patterns of inheritance observed. These findings have suggested genotype-phenotype correlations and even isoform-specific implications for individuals with ANK3 pathogenic variants. Here, we report a patient with speech delay, autism spectrum disorder, and a language disorder in which a de novo nonsense ANK3 alteration was discovered by exome sequencing. Interestingly, the next-generation sequencing data suggested the change was mosaic in the affected child, and it was confirmed by digital polymerase chain reaction (dPCR) at 22% allelic fraction. To our knowledge, this is the first case of an individual with a pathogenic mosaic ANK3 variant. This finding expands upon the existing genotype-phenotype information available for the ANK3 gene while also highlighting potential gene expression correlations with phenotype.

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9. Ghahari N, Yousefian F, Najafi E. Prenatal exposure to ambient air pollution and autism spectrum disorders: Results from a family-based case-control study. JCPP advances. 2023; 3(1): e12129.

BACKGROUND: Autism prevalence has increased considerably, but its etiology is still poorly understood. While there have been suggestions regarding associations between air pollution exposure and neurodevelopmental disorders, several studies have looked at the effect of air pollution exposure on autism. However, the results are inconsistent. The possible role of unknown confounders is mainly blamed for this inconsistency. METHODS: To minimize confounding effects, we evaluated the impact of air pollution exposure on autism using a family-based case-control study. Cases were individuals with a diagnosis of autism born between 2009 and 2012 in Isfahan city, Iran. The controls did not have a previous history of autism and were cousins of the case person. The controls were matched with the autistic cases in terms of residential location and age range. For each trimester of pregnancy, carbon monoxide (CO), nitrogen dioxide (NO(2)), ozone (O(3)), sulfur dioxide (SO(2)), and PM(10) exposure were estimated using the inverse distance weighted method. RESULTS: The analysis indicates a significant association between CO exposure and autism in the second trimester (OR = 1.59; p = 0.046, 95% CI: 1.01-2.51) and entire pregnancy (OR = 2.02; p = 0.049, 95% CI: 1.01-2.95). Likewise, exposure to NO(2) during the second trimester (OR = 1.17; p = 0.006, 95% CI: 1.04-1.31), third trimester (OR = 1.11; p = 0.046, 95% CI: 1.01-1.24), and entire pregnancy (OR = 1.27; p = 0.007, 95% CI: 1.07-1.51) were found to be associated with increased risk of autism. CONCLUSIONS: Overall, our study found higher exposure to CO and NO(2), particularly during the second and third trimesters of pregnancy, was significantly associated with a higher risk of autism.

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10. Hawkins R. Commentary: Reviewing neurodiversity, autism, and healthcare by Jonathan Green (2023) from an autistic perspective. Child and adolescent mental health. 2023.

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11. Hirano D, Goto Y, Shoji H, Taniguchi T. Relationship between hand stereotypies and purposeful hand use and factors causing skin injuries and joint contractures in individuals with Rett syndrome. Early human development. 2023; 183: 105821.

BACKGROUND: Skin injuries and joint contractures in the upper limbs are observed in approximately 50 % of individuals with Rett syndrome, respectively. AIMS: To investigate the relationship between stereotypic hand movements and purposeful hand skills, items related to these, and factors that cause upper extremity skin injuries and joint contractures in individuals with Rett syndrome. STUDY DESIGN: We conducted a cross-sectional observational study in 2020 with families belonging to either of the two largest Rett syndrome organizations in Japan. SUBJECTS: In 2020, we sent a questionnaire to 194 Japanese families. OUTCOME MEASURES: We used descriptive statistics to indicate frequency in each question. We analysed the association between hand stereotypies and purposeful hand use, their associations with each questionnaire item, and the relationship between the occurrence of skin injuries and joint contractures. RESULTS: We acquired information from 72 cases. We found correlations between stereotypy frequency with reaching and between purposeful hand use with intellectual development grade and hand function. Hand and finger skin injuries and elbow and finger joint contractures were associated with wringing/washing, grasping, locomotion, reaching, and intellectual development grade. We identified cut-off points for the occurrence of elbow and finger joint contractures of 10 years 6 months, ability to roll over, finger feeds only, and understanding of simple words. CONCLUSIONS: Direct interventions can reduce hand stereotypies and increase purposeful hand use, while related items can be addressed with indirect interventions. Evaluations of factors that cause skin injuries and joint contractures can prevent their occurrence.

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12. Livingston LA, Waldren LH, Walton E, Shah P. Emotion processing differences mediate the link between sex and autistic traits in young adulthood. JCPP advances. 2022; 2(3): e12096.

BACKGROUND: The male preponderance in autism diagnoses is widely reported, yet the psychological mechanisms (e.g., emotion processing) underlying this sex difference are poorly understood. Contributing to this gap in knowledge, most research has not been designed to investigate the intermediary (i.e., mediating) role of psychological processes in the relationship between sex and autism. Compounding this issue, concerns that autism measures are not reliably measuring the same constructs in males and females, and bias against females in clinical samples, make it difficult to investigate the psychological mechanisms underlying sex differences in autism. METHODS: Over two cross-sectional studies, 1656 young adults from the general population reported their sex (as assigned at birth) and completed questionnaires indexing their emotion processing differences, as well as a measure of autistic traits suggested to tap into the same psychometric construct in males and females. RESULTS: Emotion processing differences mediated the relationship between sex and autistic traits, whereby being male was associated with more emotion processing differences, which were subsequently linked with greater levels of autistic traits. There remained a direct effect of sex on autistic traits after accounting for emotion processing differences. CONCLUSIONS: Emotion processing differences are a potential psychological mechanism underpinning higher prevalence of autism in males, which may serve a compensatory function in females; for example, females may seek out emotion-inducing experiences to help compensate for social-emotional difficulties. These findings inform our understanding of autism-related sex differences and have potential implications for clinical practice, where the need for sex-specific support and diagnostic processes is increasingly being recognised.

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13. Rudling M, Portugal AM, Bölte S, Falck-Ytter T. Pre-pragmatic language use in toddlerhood: Developmental antecedents, aetiological factors, and associations to autism. JCPP advances. 2023; 3(1): e12135.

BACKGROUND: Pragmatic language is key for adaptive communication, but often compromised in neurodevelopmental conditions such as autism spectrum disorder (ASD). Decontextualized language-to talk about events and things beyond here and now-develops early in childhood and can be seen as a pre-pragmatic ability. Little is known about the factors that contribute to decontextualized language use in toddlers and whether these are different from factors contributing to general language development. METHODS: We studied longitudinal associations between parent-rated core language and non-verbal socio-communicative abilities at 14 months of age, and decontextualized language use at 24 months of age in children with typical and elevated likelihood of ASD (total N = 303). Using twin modelling, we also investigated genetic and environmental contributions on decontextualized language and grammar use in two-year-old twin pairs (total N = 374). RESULTS: Core language ability was a strong predictor of later decontextualized language use in both children with and without an elevated likelihood of ASD. In contrast, social communication was only a significant predictor of decontextualized language use for children with low levels of core language. This pattern was specific to decontextualized language, and not replicated in prediction of concurrent grammatical ability. Further, there was a large genetic influence on decontextualized language at 2 years of age, which mostly overlapped with the genetic influences on grammatical ability. Shared environment influences were significant for grammatical ability, but not found on decontextualized language. In children with an elevated likelihood of ASD, decontextualized language use was negatively associated with autistic symptoms. CONCLUSIONS: This study suggests that decontextualized language is developmentally associated with, yet dissociable from, more general language development measured as grammatical ability. Already at 2 years of age, parental ratings of decontextualized language is associated to clinician-rated symptoms of ASD.

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14. Teneqexhi P, Khalid A, Nisbett KE, Job GA, Messer WS, Jr., Ragozzino ME. The Partial M(1) Muscarinic Cholinergic Receptor Agonist, CDD-0102A, Differentially Modulates Glutamate Efflux in Striatal Subregions during Stereotyped Motor Behavior in the BTBR Mouse Model of Autism. ACS chemical neuroscience. 2023.

The BTBR T(+) Itpr3(tf)/J (BTBR) mouse displays elevated repetitive motor behaviors. Treatment with the partial M(1) muscarinic receptor agonist, CDD-0102A, attenuates stereotyped motor behaviors in BTBR mice. The present experiment investigated whether CDD-0102A modifies changes in striatal glutamate concentrations during stereotyped motor behavior in BTBR and B6 mice. Using glutamate biosensors, change in striatal glutamate efflux was measured during bouts of digging and grooming behavior with a 1 s time resolution. Mice displayed both decreases and increases in glutamate efflux during such behaviors. Magnitude of changes in glutamate efflux (decreases and increases) from dorsomedial and dorsolateral striatum were significantly greater in BTBR mice compared to those of B6 mice. In BTBR mice, CDD-0102A (1.2 mg/kg) administered 30 min prior to testing significantly reduced the magnitude change in glutamate decreases and increases from the dorsolateral striatum and decreased grooming behavior. Conversely, CDD-0102A treatment in B6 mice potentiated glutamate decreases and increases in the dorsolateral striatum and elevated grooming behavior. The findings suggest that activation of M(1) muscarinic receptors modifies glutamate transmission in the dorsolateral striatum and self-grooming behavior.

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15. Turpin V, Schaffhauser M, Thabault M, Aubert A, Joffre C, Balado E, Longueville JE, Francheteau M, Burucoa C, Pichon M, Layé S, Jaber M. Mice prenatally exposed to valproic acid do not show autism-related disorders when fed with polyunsaturated fatty acid-enriched diets. Scientific reports. 2023; 13(1): 11235.

Dietary supplementations with n-3 polyunsaturated fatty acid (PUFA) have been explored in autism spectrum disorder (ASD) but their efficiency and potential in ameliorating cardinal symptoms of the disease remain elusive. Here, we compared a n-3 long-chain (LC) PUFA dietary supplementation (n-3 supp) obtained from fatty fish with a n-3 PUFA precursor diet (n-3 bal) obtained from plant oils in the valproic acid (VPA, 450 mg/kg at E12.5) ASD mouse model starting from embryonic life, throughout lactation and until adulthood. Maternal and offspring behaviors were investigated as well as several VPA-induced ASD biological features: cerebellar Purkinje cell (PC) number, inflammatory markers, gut microbiota, and peripheral and brain PUFA composition. Developmental milestones were delayed in the n-3 supp group compared to the n-3 bal group in both sexes. Whatever the diet, VPA-exposed offspring did not show ASD characteristic alterations in social behavior, stereotypies, PC number, or gut microbiota dysbiosis while global activity, gait, peripheral and brain PUFA levels as well as cerebellar TNF-alpha levels were differentially altered by diet and treatment according to sex. The current study provides evidence of beneficial effects of n-3 PUFA based diets, including one without LCPUFAs, on preventing several behavioral and cellular symptoms related to ASD.

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16. Whitehouse A. Commentary: A spectrum for all? A response to Green et al. (2023), neurodiversity, autism and health care. Child and adolescent mental health. 2023.

The broadening of the clinical definition of autism over time-the so-called, autism spectrum-has run in parallel with the growth of a neurodiversity movement that has reframed the concept of autism entirely. Without a coherent and evidence-based framework through which both of these advances can be situated, the field is at risk of losing definition altogether. In his commentary, Green describes such a framework, which has appeal because of its grounding in basic and clinical evidence, and its ability to guide its users through its real-world application in health care. An endless spectrum creates barriers to autistic children having their human rights met, but a denial of neurodiversity principles has the same effect. Green’s framework holds great promise in coherently framing this sentiment. The real test of the framework is in its implementation, and all communities should walk that path together.

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17. Wolstencroft J, Srinivasan R, Hall J, van den Bree MBM, Owen MJ, Raymond FL, Skuse D. Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin. JCPP advances. 2023; 3(1): e12128.

BACKGROUND: Many children with an intellectual or developmental disability (IDD) have associated autism spectrum disorders (ASD), as well as an increased risk of mental health difficulties. In a cohort with IDD of genetic aetiology, we tested the hypothesis that excess risk attached to those with ASD + IDD, in terms of both children’s mental health and parental psychological distress. METHODS: Participants with a copy number variant or single nucleotide variant (5-19 years) were recruited via UK National Health Service. 1904 caregivers competed an online assessment of child mental health and reported on their own psychological wellbeing. We used regression to examine the association between IDD with and without co-occurring ASD, and co-occurring mental health difficulties, as well as with parental psychological distress. We adjusted for children’s sex, developmental level, physical health, and socio-economic deprivation. RESULTS: Of the 1904 participants with IDD, 701 (36.8%) had co-occurring ASD. Children with both IDD and ASD were at higher risk of associated disorders than those with IDD alone (ADHD: OR = 1.84, 95% confidence interval [CI] 1.46-2.32, p < 0.0001; emotional disorders: OR = 1.85, 95%CI 1.36-2.5, p < 0.0001; disruptive behaviour disorders: OR = 1.79, 95%CI 1.36-2.37, p < 0.0001). The severity of associated symptoms was also greater in those with ASD (hyperactivity: B = 0.25, 95%CI 0.07-0.34, p = 0.006; emotional difficulties: B = 0.91, 95%CI 0.67 to 1.14, p < 0.0001; conduct problems: B = 0.25, 95%CI 0.05 to 0.46, p = 0.013). Parents of children with IDD and ASD also reported greater psychological distress than those with IDD alone (β = 0.1, 95% CI 0.85 to 2.21, p < 0.0001). Specifically, in those with ASD, symptoms of hyperactivity (β = 0.13, 95% CI 0.29-0.63, p < 0.0001), emotional difficulties (β = 0.15, 95% CI 0.26-0.51, p < 0.0001) and conduct difficulties (β = 0.07, 95% CI 0.07-0.37, p < 0.004) all significantly contributed to parental psychological distress. CONCLUSIONS: Among children with IDD of genetic aetiology, one third have co-occurring ASD. Not only do those with co-occurring ASD present with a wider range of associated mental health disorders and more severe mental health difficulties than those with IDD alone, but their parents also experience more psychological distress. Our findings suggest that the additional mental health and behavioural symptoms in those with ASD contributed to the degree of parental psychological distress.

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18. Xiao Q, Xu H, Chu Z, Feng Q, Zhang Y. Margin-Maximized Norm-Mixed Representation Learning for Autism Spectrum Disorder Diagnosis with Multi-Level Flux Features. IEEE transactions on bio-medical engineering. 2023; Pp.

Early diagnosis and timely intervention are significantly beneficial to patients with autism spectrum disorder (ASD). Although structural magnetic resonance imaging (sMRI) has become an essential tool to facilitate the diagnosis of ASD, these sMRI-based approaches still have the following issues. The heterogeneity and subtle anatomical changes place higher demands for effective feature descriptors. Additionally, the original features are usually high-dimensional, while most existing methods prefer to select feature subsets in the original space, in which noises and outliers may hinder the discriminative ability of selected features. In this paper, we propose a margin-maximized norm-mixed representation learning framework for ASD diagnosis with multi-level flux features extracted from sMRI. Specifically, a flux feature descriptor is devised to quantify comprehensive gradient information of brain structures on both local and global levels. For the multi-level flux features, we learn latent representations in an assumed low-dimensional space, in which a self-representation term is incorporated to characterize the relationships among features. We also introduce mixed norms to finely select original flux features for the construction of latent representations while preserving the low-rankness of latent representations. Furthermore, a margin maximization strategy is applied to enlarge the inter-class distance of samples, thereby increasing the discriminative ability of latent representations. The extensive experiments on several datasets show that our proposed method can achieve promising classification performance (the average area under curve, accuracy, specificity, and sensitivity on the studied ASD datasets are 0.907, 0.896, 0.892, and 0.908, respectively) and also find potential biomarkers for ASD diagnosis.

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19. Yozevitch R, Dahan A, Seada T, Appel D, Gvirts H. Classifying interpersonal synchronization states using a data-driven approach: implications for social interaction understanding. Scientific reports. 2023; 13(1): 11150.

This study presents a data-driven approach to identifying interpersonal motor synchrony states by analyzing hand movements captured from a 3D depth camera. Utilizing a single frame from the experiment, an XGBoost machine learning model was employed to differentiate between spontaneous and intentional synchrony modes with nearly [Formula: see text] accuracy. Our findings demonstrate a consistent pattern across subjects, revealing that movement velocity tends to be slower in synchrony modes. These insights support the notion that the relationship between velocity and synchrony is influenced by the cognitive load required for the task, with slower movements leading to higher synchrony in tasks demanding higher cognitive load. This work not only contributes to the limited literature on algorithms for identifying interpersonal synchrony but also has potential implications for developing new metrics to assess real-time human social interactions, understanding social interaction, and diagnosing and developing treatment strategies for social deficits associated with conditions such as Autism Spectrum Disorder.

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