1. Bellido-Cuéllar S, Pérez de la Fuente R, Lezana-Rosales JM, Sánchez-Calvín MT, Saiz-Díaz RA, González de la Aleja J. Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B. Seizure. 2023; 110: 117-8.

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2. Bureau R, Riebel M, Weiner L, Coutelle R, Dachez J, Clément C. French Validation of the Camouflaging Autistic Traits Questionnaire (CAT-Q). Journal of autism and developmental disorders. 2023.

PURPOSE: Autistic camouflaging is a collection of strategies used to hide autistic characteristics. It can have serious consequences on autistic people’s mental health and needs to be addressed and measured in clinical practice. The purpose of this study is to evaluate the psychometric properties of the French adaptation of the Camouflaging Autistic Traits Questionnaire. METHODS: 1227 participants (744 autistic, 483 non-autistic) answered the French version of the CAT-Q in an online survey or on paper. Confirmatory factor analysis, measurement invariance testing, internal consistency analysis (McDonald’s ω), and convergent validity with the DASS-21 depression subscale were conducted. Test-rest reliability was assessed on a sample of 22 autistic volunteers using intraclass correlation coefficient. RESULTS: A good fit was found for the original three-factor structure as well as a good internal consistency, excellent test-retest reliability and highly significant convergent validity. Measurement invariance testing indicates however that the meaning behind items is different for autistic vs. non-autistic people. CONCLUSION: The French version of the CAT-Q can be used in clinical settings to assess camouflaging behaviors and intent to camouflage. Further research is needed to clarify the camouflage construct and whether reported measurement noninvariance are due to cultural differences or a true difference in what camouflaging might mean for non-autistic people.

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3. Crasta JE, Jacoby EC. The Effect of Attention on Auditory Processing in Adults on the Autism Spectrum. Journal of autism and developmental disorders. 2023.

This study examined the effect of attention on auditory processing in autistic individuals. Electroencephalography data were recorded during two attention conditions (passive and active) from 24 autistic adults and 24 neurotypical controls, ages 17-30 years. The passive condition involved only listening to the clicks and the active condition involved a button press following single clicks in a modified paired-click paradigm. Participants completed the Adolescent/Adult Sensory Profile and the Social Responsiveness Scale 2. The autistic group showed delayed N1 latencies and reduced evoked and phase-locked gamma power compared to neurotypical peers across both clicks and conditions. Longer N1 latencies and reduced gamma synchronization predicted greater social and sensory symptoms. Directing attention to auditory stimuli may be associated with more typical neural auditory processing in autism.

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4. Ebrahimi Meimand S, Amiri Z, Shobeiri P, Malekpour MR, Saeedi Moghaddam S, Ghanbari A, Tehrani YS, Shokri Varniab Z, Pourabhari Langroudi A, Sohrabi H, Foroutan Mehr E, Rezaei N, Moradi-Lakeh M, A HM, Larijani B. Burden of autism spectrum disorders in North Africa and Middle East from 1990 to 2019: A systematic analysis for the Global Burden of Disease Study 2019. Brain and behavior. 2023: e3067.

INTRODUCTION: Autism spectrum disorders (ASD) encompass a range of neurodevelopmental disorders that affect the patient’s communication and behavior. There are some reports about the increasing prevalence of ASD in recent decades, mostly due to the improvement in diagnosis and screening status. Few studies suggested a lower prevalence of ASD in North Africa and Middle East compared to more developed regions. The aim of this study is to provide a comprehensive outlook of ASD in the region. METHODS: We used Global Burden of Disease (GBD) data from 1990 to 2019 in North Africa and Middle East, which is one of the seven super regions of the GBD categorization. In this study, we reported the epidemiologic indices, including prevalence, incidence, and years lived with disability (YLDs) for ASD in the 21 countries of the super region. We also compared these indices between the countries based on their sociodemographic index (SDI) which was calculated according to income per capita, mean education, and fertility rate. RESULTS: Age-standardized prevalence rate (ASPR) of ASD in the region is 304.4 (95% uncertainty interval 251.2-366.1) per 100,000 in 2019 with less than one percentage change since 1990. Age-standardized YLDs and incidence rates were 46.4 (30.4-67.5) and 7.7 (6.3-9.3) per 100,000 in 2019. The ASPR was 2.9 times greater in males compared to females in 2019. The highest age-standardized prevalence, incidence, and YLD rates among the countries were seen in Iran in 2019 (370.3, 9.3, and 56.4 per 100,000, respectively). High SDI countries had higher age-standardized YLDs rates compared to the other countries of the region. CONCLUSION: In conclusion, the trends of age-standardized epidemiologic indices remained approximately steady through the years 1990-2019 in the region. Though, there was a wide discrepancy between the countries of the region. The difference of YLDs among the countries of this region is related to the SDI of the countries. Monetary and public awareness status are the SDI factors that may affect the quality of life of ASD patients in the region. This study provides valuable information for governments and health systems to implement policies for maintaining the improving trend, achieving more timely diagnosis, and bettering the supportive actions in this region.

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5. Fan Y, Xiong H, Sun G. DeepASDPred: a CNN-LSTM-based deep learning method for Autism spectrum disorders risk RNA identification. BMC bioinformatics. 2023; 24(1): 261.

BACKGROUND: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by difficulty communicating with society and others, behavioral difficulties, and a brain that processes information differently than normal. Genetics has a strong impact on ASD associated with early onset and distinctive signs. Currently, all known ASD risk genes are able to encode proteins, and some de novo mutations disrupting protein-coding genes have been demonstrated to cause ASD. Next-generation sequencing technology enables high-throughput identification of ASD risk RNAs. However, these efforts are time-consuming and expensive, so an efficient computational model for ASD risk gene prediction is necessary. RESULTS: In this study, we propose DeepASDPerd, a predictor for ASD risk RNA based on deep learning. Firstly, we use K-mer to feature encode the RNA transcript sequences, and then fuse them with corresponding gene expression values to construct a feature matrix. After combining chi-square test and logistic regression to select the best feature subset, we input them into a binary classification prediction model constructed by convolutional neural network and long short-term memory for training and classification. The results of the tenfold cross-validation proved our method outperformed the state-of-the-art methods. Dataset and source code are available at https://github.com/Onebear-X/DeepASDPred is freely available. CONCLUSIONS: Our experimental results show that DeepASDPred has outstanding performance in identifying ASD risk RNA genes.

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6. Gur A, Hindi TN, Mashiach S, Roth D, Keren M. Parental reflective functioning and coping among parents of toddlers with severe developmental disabilities: An early integrative bio-psycho-social rehabilitative intervention in daycare facilities. Research in developmental disabilities. 2023; 139: 104555.

BACKGROUND: Parental reflective functioning has a positive effect on parents’ wellbeing. It is associated with positive outcomes for their children. However, there is little research on it among parents of toddlers with severe developmental disabilities. AIMS: We examined an early bio-psycho-social rehabilitative intervention with parents of toddlers with severe developmental disabilities in daycare programs and its contribution to their parental reflective functioning and coping. METHODS AND PROCEDURES: Seventy parents of children (ages 3 months to two and half years) responded to measures before and after the intervention in their children’s daycare programs. Structural equation modeling of the mediation model revealed that the therapeutic inputs were associated with more adaptive coping strategies by increasing parental reflective functioning. OUTCOMES AND RESULTS: Parents who participated in an intervention of 13 sessions or more significantly increased their reflective functioning. The path analysis showed that parental reflective functioning after the intervention mediated the association between its prior level and the therapeutic inputs, and the parents’ proactivity and search for support. CONCLUSIONS AND IMPLICATIONS: Parental reflective functioning positively affects parents’ adaptive coping styles. A bio-psycho-social intervention targeting parental reflective functioning benefits parents of toddlers with severe developmental disabilities.

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7. Kaminski VL, Kulmann-Leal B, Tyska-Nunes GL, Beltrame BP, Riesgo RDS, Schüler-Faccini L, Roman T, Schuch JB, Chies JAB. Association between NKG2/KLR gene variants and epilepsy in Autism Spectrum Disorder. Journal of neuroimmunology. 2023; 381: 578132.

Autism Spectrum Disorder (ASD) is a set of neurodevelopmental disorders mainly characterized by repetitive, restrictive and stereotypical behaviors, and impaired communication skills. Several lines of evidence indicate that alterations of the immune system account for ASD development, including the presence of brain-reactive antibodies, abnormal T cell activation, altered cytokine levels in brain, cerebrospinal fluid and peripheral blood circulation, increased levels of circulating monocytes, and dysregulation in Natural Killer (NK) cells activity. Regarding NK cells, a lower cytotoxic activity, a higher level of activation and an increased number of these cells in individuals with ASD have been described. In 2019, a study showed that NK cells derived from patients with ASD show a characteristic pattern of NKG2C overexpression, highlighting the importance of the NK cell pathway in ASD. In fact, the study of genes related to NK cell activity has proven to be an excellent research target, both in terms of susceptibility as well as a marker for the different clinical manifestations observed in ASD individuals. Here, we evaluated the influence of KLRC2 gene deletion as well as KLRK1 rs1049174 and rs2255336 variants in a cohort of 185 children diagnosed with ASD and their respective biological parents in southern Brazil. Of note, this is the first study concerning genetic variants of the KLRC2 and KLRK1 genes in an ASD sample. The KLRC2 gene deletion (p = 0.001; pc = 0.009), KLRK1 rs1049174 (p = 0.005; pc = 0.045) and KLRK1 rs2255336 (p = 0.001; pc = 0.009) were associated with epilepsy in ASD patients. The results indicate that KLRC2 deletion, KLRK1 rs2255336, and KLRK1 rs1049174 could be involved in epilepsy manifestation in ASD patients, possibly impacting the NK dysregulation already described in ASD and epileptic patients.

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8. Leyhausen J, Schäfer T, Gurr C, Berg LM, Seelemeyer H, Pretzsch CM, Loth E, Oakley B, Buitelaar JK, Beckmann CF, Floris DL, Charman T, Bourgeron T, Banaschewski T, Jones EJ, Tillmann J, Chatham C, Murphy D, Ecker C. Differences in Intrinsic Gray-Matter Connectivity and their genomic underpinnings in Autism Spectrum Disorder. Biological psychiatry. 2023.

BACKGROUND: Autism is a heterogenous neurodevelopmental condition accompanied by differences in brain connectivity. Structural connectivity in autism has mainly been investigated within the white matter. However, many genetic variants associated with autism highlight genes related to synaptogenesis and axonal guidance, thus also implicating differences in ‘intrinsic’ (i.e. gray-matter) connections in autism. Intrinsic connections may be assessed in vivo via so-called intrinsic global and local wiring costs. METHODS: Here, we examined intrinsic global and local wiring costs in the brain of N=359 autistic individuals and N=279 controls, aged 7-31 years from the EU-AIMS Longitudinal European Autism Project (LEAP). FreeSurfer was used to derive surface mesh representations to compute the estimated length of connections required to wire the brain within the gray-matter. Vertex-wise between-group differences were assessed using a general linear model. A gene expression decoding analysis based on the Allan Human Brain Atlas was performed to link neuroanatomical differences to putative underpinnings. RESULTS: Group differences in global and local wiring costs were predominantly observed in medial and lateral prefrontal brain regions, in inferior temporal regions, and at the left temporoparietal junction. The resulting neuroanatomical patterns were enriched for genes previously implicated in the etiology of autism at the genetic and transcriptomic level. CONCLUSION: Based on intrinsic gray-matter connectivity, the study investigated the complex neuroanatomy of autism and linked between-group differences to putative genomic and/or molecular mechanisms to parse the heterogeneity of autism and provide targets for future subgrouping approaches.

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9. Male I, Farr W, Bremner S, Gage H, Williams P, Gowling E, Honey E, Gain A, Parr J. An observational study of individual child journeys through autism diagnostic pathways, and associated costs, in the UK National Health Service. Frontiers in rehabilitation sciences. 2023; 4: 1119288.

BACKGROUND: Demand for diagnostic assessment in children with possible autism has recently increased significantly. Services are under pressure to deliver timely and high-quality diagnosis, following National Institute and Care Excellence multidisciplinary assessment guidelines. This UK National Health Service study aimed to answer: how many hours of health professional time are required to deliver autism diagnostic assessment, and how much does this cost?. METHOD: Case notes of 20 children (1-16 yrs.) from 27 NHS trusts, assessed through an autism diagnostic pathway in the previous year, were examined retrospectively. Data included: hours of professional time, diagnostic outcome. Assessment costs calculated using standardised NHS tariffs. RESULTS: 488 children (aged 21-195 months, mean 82.9 months, SD 39.36) from 22 Child Development Services (CDS), four Child and Adolescent Mental Health Services (CAMHS) and one tertiary centre; 87% were either under 5 (36%) or 5 to 11 years (51%). Children seen by CDS were younger than CAMHS (mean (SD) 6.10 (2.72) vs. 10.39 (2.97) years, p < 0.001). Mean days to diagnosis were 375 (SD 235), with large variation (range 41-1553 days). Mean hours of professional time per child was 11.50 (SD 7.03) and varied substantially between services and individuals. Mean cost of assessment was £846.00 (SD 536.31). 339 (70.0%) children received autism diagnosis with or without comorbidity; 54 (11%) received no neurodevelopmental diagnosis; 91 (19%) received alternative neurodevelopmental diagnoses. Children with one or more coexisting conditions took longer to diagnose, and assessment was more costly, on average 117 days longer, costing £180 more than a child with no neurodevelopmental diagnosis. Age did not predict days to diagnosis or assessment costs. CONCLUSION: Typical assessment took 11 h of professional time and over 12-months to complete, costing GB£850 per child. Variation between centres and children reflect differences in practice and complexity of diagnostic presentation. These results give information to those delivering/planning autism assessments using multi-disciplinary team approach, in publicly funded health systems. Planning of future diagnostic services needs to consider growing demand, the need for streamlining, enabling context appropriate services, and child/family complexity.

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10. Marinopoulou M, Billstedt E, Wessman C, Bornehag CG, Hallerbäck MU. Association Between Intellectual Functioning and Autistic Traits in the General Population of Children. Child psychiatry and human development. 2023.

Autistic traits are continuously distributed in the general population. The associations between autistic traits and intellectual functioning and/or behavioural difficulties, and the impact of intellectual functioning on behavioural difficulties are unclear. The study aims to describe the distribution of autistic traits in a population-based cross-sectional sample of children. Further aims are to examine the association between intellectual functioning and autistic traits, and between autistic traits and behavioural difficulties. Wechsler scales and ratings of autistic traits and behavioural problems in 874 children aged 7-9 years in the Swedish Environmental Longitudinal Mother and Child, Asthma and Allergy (SELMA) study were assessed. We found a continuous distribution of autistic traits. Intellectual functioning was negatively associated with autistic traits but not with behavioural difficulties. Behavioural difficulties were associated with autistic traits.

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11. Shakeshaft A, Heron J, Blakey R, Riglin L, Davey Smith G, Stergiakouli E, Tilling K, Thapar A. Co-development of attention deficit hyperactivity disorder and autistic trait trajectories from childhood to early adulthood. Journal of child psychology and psychiatry, and allied disciplines. 2023.

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism, defined as traits or disorders, commonly co-occur. Developmental trajectories of ADHD and autistic traits both show heterogeneity in onset and course, but little is known about how symptom trajectories co-develop into adulthood. METHODS: Using data from a population cohort, the Avon Longitudinal Study of Parents and Children, we examined correlations between ADHD and autistic traits across development, using the Social Communication Disorders Checklist and ADHD subscale of the Strengths and Difficulties Questionnaire. We modelled joint developmental trajectories of parent-reported ADHD and autistic traits between 4 and 25 years, then characterised trajectory classes based on sociodemographic, perinatal, psychopathology, cognition and social functioning variables and tested for associations with neurodevelopmental/psychiatric polygenic scores (PGS). RESULTS: Three classes of trajectories were identified; a typically developing majority with low-stable ADHD-autistic traits (87%), a male-predominant subgroup with child/adolescent-declining traits (6%) and a subgroup with late-emerging traits (6%). ADHD-autistic trait correlations were greatest in young adulthood for the two nontypically developing classes. There were higher rates of emotional and conduct problems, low IQ, childhood seizures and poor social functioning in the declining and late-emerging classes compared to the low-stable class. Emotional, conduct and peer problems were more prevalent during childhood in the childhood/adolescent-declining class compared to other classes, but were more prevalent in young adulthood in the late-emerging class. Neurodevelopmental/psychiatric PGS also differed: both nontypically developing classes showed elevated ADHD PGS compared to the low-stable group, and the late-emerging group additionally showed elevated schizophrenia PGS and decreased executive function PGS, whereas the declining group showed elevated broad depression PGS. CONCLUSIONS: Distinct patterns of ADHD-autism co-development are present across development in the general population, each with different characterising factors and genetic signatures as indexed by PGS.

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12. Sim MA, Shen L, Ti LK, Sng BL, Broekman BFP, Daniel LM, Bong CL. Association between maternal labour epidural analgesia and autistic traits in offspring. Journal of clinical anesthesia. 2023; 89: 111162.

STUDY OBJECTIVE: Studies investigating associations between maternal epidural analgesia (MEA) and autism spectrum disorder (ASD) in the offspring are conflicting and lack prospective neurobehavioral follow-up assessments for autistic traits. We aim to prospectively investigate associations between MEA and autistic traits in the offspring. DESIGN: Prospective neurobehavioral observational cohort study. SETTING: Singaporean tertiary healthcare institutions. PATIENTS: Participants recruited were singleton non-IVF children, >36 weeks gestation, delivered via normal vaginal delivery by mothers >18 years of age, delivered in Singapore from June 2009-September 2010 and followed up over 7 years. INTERVENTIONS: Exposure to maternal epidural analgesia during delivery. MEASUREMENTS: The primary outcome is an abnormal Social Responsiveness Scale (SRS) T score at 7 years (≥60 points). Secondary outcomes include the diagnosis of ASD and abnormal scores for autistic traits assessed via a neurobehavioral battery comprising: CBCL (child behavioural checklist), Q-CHAT (Quantitative Checklist for Autism in Toddlers), and Bayley-III. Multivariable analyses adjusting for maternal and offspring characteristics were performed. MAIN RESULTS: 704 out of 769 mother-child dyads recruited fulfilled the criteria for analysis. 365/704 mothers received MEA. The incidence of an abnormal SRS score at 7 years in offspring exposed to MEA was 19.9%, and 26.1% in non-exposed offspring (p = 0.154). Multivariable analysis did not demonstrate a significant association between MEA and abnormal SRS scores at 7 years (O.R.0.726, 95% C•I. 0.394-1.34, p = 0.305). After adjustment for maternal and fetal demographics, exposure to MEA was not significantly associated with an abnormal screen in all other tests for autistic traits. The clinical incidence of ASD was 1.76% in children without exposure to MEA, and 2.32% in children with MEA exposure (p = 0.506). CONCLUSIONS: MEA is not significantly associated with the development of ASD and autistic traits in offspring, assessed over 7 years. Results should be taken into perspective given our wide confidence intervals and small cohort size.

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13. Tang Y, Wang C, Liu X, Li F, Dai Y, Cui L, Li F. Children with autism spectrum disorder perform comparably to their peers in a parent-child cooperation task. Experimental brain research. 2023.

This study investigates whether and how parent’s cooperation affects child’s cooperation, and whether that differs between children with/without autism spectrum disorder (ASD). The experiment involved a cooperative key-pressing task completed first by parent-parent dyads and then by parent-child dyads, meanwhile brain activity in the right frontal-parietal cortex of dyad partners was measured synchronously. The results showed the following: ASD children exhibited performance comparable to those of their peers, as was the level of brain synchronization with their parents, which was mainly due to parents with ASD children tending to adjust their own response patterns to match those of their children. These findings suggest that parents can somewhat actively mitigate the lower interpersonal synchronization ability of ASD children, in behavioral or/and neural level.

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14. Vasa RA, Kerns CM, Singh V, McDonald R, Jang YS, Keefer A. Anxiety in autistic preschool children: Phenomenology and a network analysis of correlates. Autism research : official journal of the International Society for Autism Research. 2023.

Anxiety disorders in autistic children are associated with significant functional impairment. Few studies have examined impairing anxiety presentations in autistic preschool children (i.e., 3-5 years old). This cross-sectional study examined the phenomenology of impairing anxiety and the strongest correlates of anxiety in 75 autistic preschool children. Parents completed a diagnostic interview that assesses two anxiety types, DSM-5 anxiety disorders and impairing distinct anxiety presentations, and measures of anxiety correlates. An exploratory network analysis examined connections between anxiety and its correlates. Forty percent of children had impairing anxiety. Specific phobia followed by ‘other social fear,’ a type of distinct anxiety, were the most common anxiety types. Child intolerance of uncertainty (IU) was the only correlate that was associated with anxiety in a network analysis framework. Child IU linked anxiety to two other correlates, sensory over-responsivity and somatic symptoms. Findings emphasize the need for early intervention for anxiety and further research on its correlates.

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15. Williams AN. Pausanias as a literary case of autism spectrum disorder. Journal of travel medicine. 2023; 30(4).

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