1. Ahmad M, Stirmlinger N, Jan I, Stifel U, Lee S, Weingandt M, Kelp U, Bockmann J, Ignatius A, Böckers TM, Tuckermann J. Downregulation of the Autism Spectrum Disorder Gene Shank2 Decreases Bone Mass in Male Mice. JBMR plus. 2023; 7(2): e10711.

Mutations of the postsynaptic scaffold protein Shank2 lead to autism spectrum disorders (ASD). These patients frequently suffer from higher fracture risk. Here, we investigated whether Shank2 directly regulates bone mass. We show that Shank2 is expressed in bone and that Shank2 levels are increased during osteoblastogenesis. Knockdown of Shank2 by siRNA targeting the encoding regions for PDZ and SAM domain inhibits osteoblastogenesis of primary murine calvarial osteoblasts. Shank2 knockout mice (Shank2 (-/-)) have a decreased bone mass due to reduced osteoblastogenesis and bone formation, whereas bone resorption remains unaffected. Induced pluripotent stem cells (iPSCs)-derived osteoblasts from a loss-of-function Shank2 mutation in a patient showed a significantly reduced osteoblast differentiation potential. Moreover, silencing of known Shank2 interacting proteins revealed that a majority of them promote osteoblast differentiation. From this we conclude that Shank2 and interacting proteins known from the central nervous system are decisive regulators in osteoblast differentiation. © 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

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2. Amestoy A, Baudrillard C, Briot K, Pizano A, Bouvard M, Lai MC. Steroid hormone pathways, vitamin D and autism: a systematic review. Journal of neural transmission (Vienna, Austria : 1996). 2023.

The origins of the male preponderance in autism incidence remain unclear. The idea that perinatal factors associated with sex differentiation (e.g., steroid hormone pathways) may increase the possibility of the emergence of autism is complementary to the hypothesis that female individuals are intrinsically less likely to develop autism. Empirical evidence for the mechanistic roles of in utero steroid hormones in autism etiology is accumulating but inconsistent. We conducted a systematic review using rigorous criteria for the measurements of steroids and vitamin D exposure, to summarize the potential contributing roles of prenatal and early postnatal steroids and vitamin D alterations to the emergence of autism. We searched PubMed, PsychInfo, Scopus, and included 22 studies for qualitative synthesis. Among them, six studies examined the association of autism diagnoses in offspring and levels of steroids and precursor steroid hormones in the fetal environment, eight studies examined the associations between autism and maternal and fetal blood vitamin D levels during pregnancy and at birth, and eight studies examined the associations between offspring autism diagnoses and maternal hyperandrogenemia diagnosed before pregnancy. We identified promising and complex results regarding the relations between steroid metabolism and autism. The interpretation of findings was limited by the mostly observational study designs, insufficient investigation of the effects of offspring sex, confounders and their cumulative effects on the development of the child, and unclear impact of the timing of steroids exposure and their effects on fetal neurodevelopment.

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3. Asfour MH, Abd El-Alim SH, Kassem AA, Salama A, Gouda AS, Nazim WS, Nashaat NH, Hemimi M, Abdel Meguid N. Vitamin D(3)-Loaded Nanoemulsions as a Potential Drug Delivery System for Autistic Children: Formulation Development, Safety, and Pharmacokinetic Studies. AAPS PharmSciTech. 2023; 24(2): 58.

The aim of the current study is the development of a vitamin D(3) (VD3)-loaded nanoemulsion (NE) formulation to improve VD3 oral bioavailability for management of vitamin D inadequacy in autistic children. Eight NE formulations were prepared by high-speed homogenization followed by ultrasonication. Four vegetable oils were employed along with two concentrations of Span 20 as the emulsifier. Glycerol, fructose, and mango flavor were included as viscosity modifier, sweetening, and flavoring agents, respectively. The prepared VD3-loaded NE formulations exhibited high drug content (> 98%), droplet size (DS) ranging from 61.15 to 129.8 nm with narrow size distribution, zeta potential values between - 9.83 and - 19.22 mV, and acceptable pH values (4.59-5.89). Storage stability showed that NE formulations underwent coalescence and phase separation during 6 months at room temperature, whereas at refrigerated conditions, formulations showed slight creaming. The optimum formulation (VD3-NE6) revealed a non-significant DS growth at refrigerated conditions and spherical morphology under transmission electron microscopy. VD3-NE6 did not produce any toxic effects to rats treated orally for 3 months, where normal blood picture and kidney and liver functions were observed compared to control rats. Also, serum calcium, oxidative stress, and apoptosis biomarkers remained within normal levels, indicating the safety of the optimum formulation. Furthermore, evaluation of VD3-NE6 oral bioavailability depicted a significant increase in AUC(0-72) and C(max) with decreased T(max) compared to plain VD3. The optimum formulation demonstrated improved stability, safety, and oral bioavailability indicating the potential for successful management of vitamin D deficiency in autistic children.

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4. Bast N, Mason L, Ecker C, Baumeister S, Banaschewski T, Jones EJH, Murphy DGM, Buitelaar JK, Loth E, Pandina G, Freitag CM. Sensory salience processing moderates attenuated gazes on faces in autism spectrum disorder: a case-control study. Molecular autism. 2023; 14(1): 5.

BACKGROUND: Attenuated social attention is a key marker of autism spectrum disorder (ASD). Recent neuroimaging findings also emphasize an altered processing of sensory salience in ASD. The locus coeruleus-norepinephrine system (LC-NE) has been established as a modulator of this sensory salience processing (SSP). We tested the hypothesis that altered LC-NE functioning contributes to different SSP and results in diverging social attention in ASD. METHODS: We analyzed the baseline eye-tracking data of the EU-AIMS Longitudinal European Autism Project (LEAP) for subgroups of autistic participants (n = 166, age = 6-30 years, IQ = 61-138, gender [female/male] = 41/125) or neurotypical development (TD; n = 166, age = 6-30 years, IQ = 63-138, gender [female/male] = 49/117) that were matched for demographic variables and data quality. Participants watched brief movie scenes (k = 85) depicting humans in social situations (human) or without humans (non-human). SSP was estimated by gazes on physical and motion salience and a corresponding pupillary response that indexes phasic activity of the LC-NE. Social attention is estimated by gazes on faces via manual areas of interest definition. SSP is compared between groups and related to social attention by linear mixed models that consider temporal dynamics within scenes. Models are controlled for comorbid psychopathology, gaze behavior, and luminance. RESULTS: We found no group differences in gazes on salience, whereas pupillary responses were associated with altered gazes on physical and motion salience. In ASD compared to TD, we observed pupillary responses that were higher for non-human scenes and lower for human scenes. In ASD, we observed lower gazes on faces across the duration of the scenes. Crucially, this different social attention was influenced by gazes on physical salience and moderated by pupillary responses. LIMITATIONS: The naturalistic study design precluded experimental manipulations and stimulus control, while effect sizes were small to moderate. Covariate effects of age and IQ indicate that the findings differ between age and developmental subgroups. CONCLUSIONS: Pupillary responses as a proxy of LC-NE phasic activity during visual attention are suggested to modulate sensory salience processing and contribute to attenuated social attention in ASD.

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5. Bosman R, Thijs J. Language Preferences in the Dutch Autism Community: A Social Psychological Approach. Journal of autism and developmental disorders. 2023.

This research examined the preference for identity-first language (IFL) versus person-first language (PFL) among 215 respondents (M(age) = 30.24 years, SD = 9.92) from the Dutch autism community. We found that a stronger identification with the autism community and a later age of diagnosis predicted a stronger IFL preference and a weaker PFL preference. Both effects were mediated by the perceived consequences (justice to identity, prejudice reduction) of PFL. Participants’ own explanations were in line with these statistical analyses but also provided nuance to the IFL-PFL debate. Our results are consistent with the Social Identity Approach (Reicher et al., 2010) and Identity Uncertainty Theory (Hogg, 2007) and demonstrate the value of a social psychological approach to study disability language preferences.

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6. Brown MI, Heck PR, Chabris CF. The Social Shapes Test as a Self-Administered, Online Measure of Social Intelligence: Two Studies with Typically Developing Adults and Adults with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2023: 1-16.

The Social Shapes Test (SST) is a measure of social intelligence which does not use human faces or rely on extensive verbal ability. The SST has shown promising validity among adults without autism spectrum disorder (ASD), but it is uncertain whether it is suitable for adults with ASD. We find measurement invariance between adults with (n = 229) or without ASD (n = 1,049) on the 23-item SST. We also find that adults without ASD score higher on the SST than adults with ASD (d = 0.21). We also provide two, 14-item versions which demonstrated good parallel test-retest reliability and are positively related to scores on the Frith-Happé task. The SST is suitable for remote, online research studies.

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7. Choi YB, Mentch J, Haskins AJ, Van Wicklin C, Robertson CE. Visual processing in genetic conditions linked to autism: A behavioral study of binocular rivalry in individuals with 16p11.2 deletions and age-matched controls. Autism research : official journal of the International Society for Autism Research. 2023.

Close phenotypic characterization of individuals with genetic conditions linked to autism provides a promising approach to navigating the heterogeneity of autism spectrum conditions. The current study investigated sensory processing in individuals with a rare genetic event that is highly penetrant for autism, 16p11.2 deletions, using a well-characterized visual paradigm, binocular rivalry, which is thought to be a non-invasive index of excitatory/inhibitory balance in the visual cortex. We characterized rivalry dynamics in 45 adolescent and adult individuals (19 individuals with 16p11.2 deletions, 26 age-matched neurotypical controls). We found that binocular rivalry perceptual transition rates were significantly slower for individuals with 16p11.2 deletions, relative to controls. Importantly, these results could not be accounted for by differences in motor response latencies or perceptual decision criteria, which were matched between groups. Results should be interpreted with caution given the unmatched psychometric features between groups, such as IQ. Future studies should study visual processing in other genetic groups linked to autism beyond 16p to understand the specificity of these findings. These results highlight the importance of characterizing sensory functions in individuals with genetic alterations associated with autism.

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8. Demopoulos C, Kopald BE, Bangera N, Paulson K, David Lewine J. Rapid auditory processing of puretones is associated with basic components of language in individuals with autism spectrum disorders. Brain and language. 2023; 238: 105229.

The goal of this study was to identify the specific domains of language that may be affected by deficits in rapid auditory processing in individuals with ASD. Auditory evoked fields were collected from 63 children diagnosed with ASD in order to evaluate processing of puretone sounds presented in rapid succession. Measures of language and its components were assessed via standardized clinical tools to quantify expressive and receptive language, vocabulary, articulation, and phonological processing abilities. Rapid processing was significantly and bilaterally associated with phonological awareness, vocabulary, and articulation. Phonological processing was found to mediate the relationship between rapid processing and language. M100 response latency was not significantly associated with any language measures. Results suggest that rapid processing deficits may impact the basic components of language such as phonological processing, and the downstream effect of this impact may in turn impact overall language development.

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9. D’Mello AM, Frosch IR, Meisler SL, Grotzinger H, Perrachione TK, Gabrieli JDE. Diminished repetition suppression reveals selective and systems-level face processing differences in ASD. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023.

Repeated exposure to a stimulus results in reduced neural response, or repetition suppression, in brain regions responsible for processing that stimulus. This rapid accommodation to repetition is thought to underlie learning, stimulus selectivity, and strengthening of perceptual expectations. Importantly, reduced sensitivity to repetition has been identified in several neurodevelopmental, learning, and psychiatric disorders including autism spectrum disorder (ASD) – a neurodevelopmental disorder characterized by challenges in social communication and repetitive behaviors and restricted interests. Reduced ability to exploit or learn from repetition in ASD is hypothesized to contribute to sensory hypersensitivities, and parallels several theoretical frameworks claiming that ASD individuals show difficulty using regularities in the environment to facilitate behavior. Using functional magnetic resonance imaging (fMRI) in autistic and neurotypical human adults (females and males), we assessed the status of repetition suppression across two modalities (vision, audition) and with four stimulus categories (faces, objects, printed words, and spoken words). ASD individuals showed domain-specific reductions in repetition suppression for face stimuli only, but not for objects, printed words, or spoken words. Reduced repetition suppression for faces was associated with greater challenges in social communication in ASD. We also found altered functional connectivity between atypically adapting cortical regions and higher-order face recognition regions and microstructural differences in related white matter tracts in ASD. These results suggest that fundamental neural mechanisms and system-wide circuits are selectively altered for face processing in ASD and enhance our understanding of how disruptions in the formation of stable face representations may relate to higher-order social communication processes.SIGNIFICANCE STATEMENTA common finding in neuroscience is that repetition results in plasticity in stimulus-specific processing regions, reflecting selectivity and adaptation (repetition suppression, RS). RS is reduced in several neurodevelopmental and psychiatric disorders, including autism spectrum disorder (ASD). Theoretical frameworks of ASD posit that reduced adaptation may contribute to associated challenges in social communication and sensory processing. However, the scope of RS differences in ASD are unknown. We examined RS for multiple categories across visual and auditory domains (faces, objects, printed words, spoken words) in autistic and neurotypical individuals. We found reduced RS in ASD for face stimuli only and altered functional connectivity and white matter microstructure between cortical face-recognition areas. RS magnitude correlated with social communication challenges among autistic individuals.

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10. Field SL, Fox JRE, Jones CRG, Williams MO. « Work WITH us »: a Delphi study about improving eating disorder treatment for autistic women with anorexia nervosa. Journal of eating disorders. 2023; 11(1): 17.

BACKGROUND: There is an increased prevalence of anorexia nervosa (AN) in autistic women and this group has poorer treatment outcomes compared to non-autistic women with AN. However, there is little research into improving eating disorder treatment for autistic women. This study investigated how best to support autistic women with AN within eating disorder services. METHOD: A three-stage Delphi study was conducted with 49 participants with relevant expertise as a researcher, clinician, or expert by experience. RESULTS: A total of 70 statements were generated, with 56 reaching consensus after the final round. Statements reaching consensus made recommendations for adaptations to treatment, staff training, and service organisation. CONCLUSIONS: The results highlight the need to distinguish between autism- and AN-related difficulties, accommodate autistic traits such as sensory sensitivities and communication differences, and ensure the autistic voice is present in both the development and delivery of care. Future research should investigate the impact of these adaptations on outcomes. The applicability of these recommendations to autistic people with other eating disorders and of other genders needs to be investigated further. Autistic women are more likely to have anorexia nervosa (AN) than non-autistic women. Autistic women can find eating disorder treatment unhelpful and need adaptations to treatment. This study asked a group of 49 researchers, staff, and people with personal experience of autism and eating disorders what they thought would help autistic women with AN. The study used a Delphi study method, which allows the calculation of how much participants agree without them needing to meet and make a decision. The study created 56 suggestions that the participants agreed on. The results give suggestions for changing treatment, training staff, and changing how services work to be better for autistic women. The suggestions highlight the importance of being able to tell the difference between autism- and AN- related behaviour, adjusting care to accommodate autistic traits, and involving autistic people in the development of care. Many of the suggestions recommend that changes are flexible to the individual autistic person. In the future, research should check if these changes are helpful for autistic women with AN, and if they would be helpful for autistic people who are not female or have other eating disorders. eng.

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11. Gonzales CW, Simonell JR, Lai MHC, Lopez SR, Tarbox J. The Impacts of the COVID-19 Pandemic on Therapy Utilization Among Racially/Ethnically and Socio-Economically Diverse Autistic Children. Journal of autism and developmental disorders. 2023: 1-16.

PURPOSE: The purpose of current study was to evaluate change in hours of Applied Behavior Analysis (ABA) therapy utilization for autistic children during the year prior to the COVID-19 pandemic, the first three months of the pandemic (crisis phase), and the following 9 months of the pandemic (mitigation phase). Additionally, this study aimed to evaluate if change in therapy utilization differed based on child race, ethnicity, and primary payer of services. Finally, we aimed to identify potential mechanisms of ABA therapy disruption by interpreting findings using an extended version of Donabedian’s structure-process-outcome model. METHODS: Retrospective clinical data on client demographics and therapy utilization (n = 283) were collected from ABA clinics in California and analyzed with four piecewise growth multi-level models. RESULTS: We found that therapy utilization dropped during the first three months of the pandemic (-10.65 h/month; p < .001) and increased during the following 9 months (2.39 h/month; p < .001). Moderator analyses revelated that Asian, Non-Latinx and school-district funded children had significantly different trajectories of change in therapy utilization compared to white, non-Latinx participants and private insurance funded participants, respectively. CONCLUSION: Findings suggest that utilization of ABA therapy was disrupted for a full year following the onset of the COVID-19 pandemic and that child race/ethnicity and primary payer influenced the degree to which autistic children were impacted by service disruption. These findings have implications for autistic children who lost therapy access during key developmental periods and for the ABA care delivery system.

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12. Hanamoto H, Hirose Y, Toyama M, Yokoe C, Oyamaguchi A, Niwa H. Effect of midazolam in autism spectrum disorder: A retrospective observational analysis. Acta anaesthesiologica Scandinavica. 2023.

BACKGROUND: While midazolam is commonly used as premedication for uncooperative patients, its effects are difficult to predict in patients with autism spectrum disorder for whom abnormalities in gamma-aminobutyric acid have been reported. This study aimed to investigate the influence of autism spectrum disorder on the effect of midazolam when used as premedication. METHODS: This retrospective observational study was performed between April 2017 and August 2018. Before inducing general anesthesia with sevoflurane for dental treatment, 390 uncooperative patients received premedication with midazolam. Ordinal logistic regression analysis was performed with the Observer’s Assessment of Alertness/Sedation score 30 min after premedication as the objective variable. Age, sex, American Society of Anesthesiologists physical status class, premedication route, dose per body weight, presence of specific disorders (autism spectrum disorder, intellectual disability, epilepsy, cerebral palsy, and other psychiatric disorders), and regular benzodiazepine or non-benzodiazepine psychotropic administration were included as explanatory variables. Kendall’s rank correlation coefficient was used to assess the correlation between the Observer’s Assessment of Alertness/Sedation score and cooperation level (1, obvious negative response; 2, negative response; 3, positive reaction; 4, obvious positive reaction) during admission and inhalation induction. All data were extracted from anesthesia and medical records. RESULTS: Age (odds ratio 1.437 [95% confidence interval (CI) 1.213-1.708], P < .001), autism spectrum disorder (1.318 [1.079-1.612], P = .007), benzodiazepine medication (0.574 [0.396-0.827], P = .002), and intramuscular route (1.478 [1.137-1.924], P = .004) were significantly associated with the Observer's Assessment of Alertness/Sedation score, while the score was negatively associated with cooperation levels during admission (τ = -0.714, P < .001) and inhalation induction (τ = -0.606, P < .001). CONCLUSIONS: Patients with autism spectrum disorder may be susceptible to premedication with midazolam; however, regular benzodiazepine administration may reduce the effect.

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13. Holmes LG, Anderson K, Sieber GS, Shattuck PT. Sexual and reproductive health services for autistic young people in the United States: A conceptual model of utilization. Perspectives on sexual and reproductive health. 2023.

BACKGROUND: Sexual and reproductive health services promote the ability of people to have safe, satisfying, non-coercive sexual experiences and make informed decisions about pregnancy. Stakeholder input is needed to understand barriers or facilitators to service access for autistic people, who report unmet needs. METHODS: We recruited 18 autistic people, 15 parents, and 15 service providers in the United States to participate in an interview and two surveys. Using their input, we created a conceptual model of sexual and reproductive health service needs, access barriers, and facilitators. RESULTS: Stakeholders rated a variety of sexual and reproductive health services as important for autistic people, including those with intellectual disability or minimal verbal language. Stakeholders identified barriers to sexual and reproductive health service utilization including lack of service availability, lack of service providers with autism or neurodiversity training, lack of accurate information about autism and sexuality, verbal and communication differences that are not accommodated by service providers, and socio-cultural attitudes about sexuality. Stakeholders identified facilitators to service access including person-centered, trauma-informed care, service accommodations such as clear and detailed expectations, and long-enough appointments. We created a conceptual model based on the social ecological model of health to organize these utilization factors and support future research, provider, and policy action. Stakeholders provided feedback and responded favorably on the model’s accuracy, utility for spurring research, practice, and policy improvements, and application to diverse groups of autistic people. CONCLUSIONS: The model shows the many feasible ways to support equitable access to services for autistic people.

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14. Ibrahimagić A, Patković N, Hadžić S, Radić B. Parental Stress Regarding Communication and Language Skills in Children with Autistic Spectrum Disorders. Psychiatria Danubina. 2022; 34(Suppl 10): 44-52.

BACKGROUND: Autistic spectrum disorders (ASD) are neurodevelopmental disorders that most often have profound impact on a person itself, as well as on parents, caretakers, and family life in whole. Parents of a child with ASD often have higher levels of stress and psychological distress. Aim of this study was to examine the stress sources, its frequency and predictability in parents of children with ASD, in relation to the communication and language skills of their children. SUBJECTS AND METHODS: The sample consisted of 80 participants who are parents of children with ASD. The study was conducted using a questionnaire made for this research. Three groups of variables were analyzed: parental stress; child’s communication; and child’s language variables. Statistical analysis was performed by SPSS and included basic statistical parameters and multiple regression analysis. RESULTS: The most common sources of parental stress are caring for the child’s future; difficulties of the child with speech, language and communication; difficulties of the child in establishing contact with peers and other persons; and inappropriate behavior of the child (anger, aggression, stereotypical behaviors…). Multiple regression analyses used to determine whether a child’s communication and language skills were valid predictors of parental stress showed significance. CONCLUSIONS: ASD child’s skills like showing gestures; looking, answering, and turning when called by name; making it known when he/she needs help or wants an object; answering simple ‘Yes/No’ questions; and establishing contact with peers, are valid predictors of some stress sources of the parents. Proper involvement in the development of a child’s communication and language skills has numerous benefits, not only for the child, but also for the parental stress recognition and its potential frequency decrease.

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15. Kahng S, Butler C, Kronfli FR, Zaki-Scarpa C, Boragi B, Scott J. An individualized approach to teaching adults with autism to successfully navigate job interviews via remote instruction. Journal of applied behavior analysis. 2023.

Adults with autism spectrum disorder (ASD) experience challenges securing employment, which may partially explain overall underemployment or unemployment in this population. One of the first steps to obtaining employment is participating in a job interview. However, social communication deficits may interfere with an individual with ASD’s participation in a job interview. The current study evaluated the use of behavioral skills training delivered via remote instruction to teach interview skills to seven adults with ASD. Results showed overall improvement during interviews as well as posttraining tests with a career development expert. These data suggest that an individualized approach to teaching may be an effective strategy to help adults with ASD successfully navigate job interviews.

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16. Karabacak Y, Barun S, Vural İ M, Vural E, Iseri E, Kahve AC, Yilmaz E, Isli F, Turkes S, Ezber E, Paykal G. Profile of psychotropic agents used in autism spectrum disorder according to comorbidities in Turkey: A 4-year evaluation. International clinical psychopharmacology. 2023.

It is known that the use of psychotropic pharmaceuticals is common in comorbidities seen in autism spectrum disorder (ASD). We have very limited knowledge about which psychotropic drugs are prescribed when comorbidities are diagnosed in patients with ASD. It is aimed to determine the profile of psychotropic agents in patients diagnosed with ASD associated with comorbidities between the ages of 0-24 in Turkey over 4 years. Data belonging to ASD in Prescription Information System (PIS) was obtained from the ‘Turkish Medicines and Medical Devices Agency’. A total of 34 066 prescriptions including 45 624 psychotropic drugs were analyzed. A total of psychotropic drugs prescribed for patients with ASD was 75.4%. The following psychotropic drugs were prescribed for the patients with ASD and its comorbidities; risperidone (28.6%), aripiprazole (13.7%), and valproic acid (11.3%) are the most preferred psychotropics. The percentage of pharmaceuticals containing psychotropic active substances in prescriptions with ASD and its comorbidities is 7.5%. This study is the first research in which psychotropics used in ASD were evaluated over a wide period and nationwide. Antipsychotics were most commonly prescribed with the diagnosis of ASD. In the presence of ASD and its comorbidities, risperidone was most frequently prescribed.

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17. Lundin Remnélius K, Bölte S. Camouflaging in Autism: Age Effects and Cross-Cultural Validation of the Camouflaging Autistic Traits Questionnaire (CAT-Q). Journal of autism and developmental disorders. 2023.

Given that camouflaging has been suggested to contribute to delayed diagnosis and mental health problems among autistic people, validated measures of the construct are needed. This study describes the psychometric evaluation of the Swedish adaptation of the self-reported Camouflaging Autistic Traits Questionnaire (CAT-Q) in autistic (n = 100) and general population (n = 539) samples aged 10 to 83 years. Analyses indicated good-to-excellent internal consistency and test-retest reliability. Construct validity was supported by autistic participants scoring higher than non-autistic, and autistic females scoring higher than autistic males on the measure. Also as expected, camouflaging was associated with theoretically linked traits, including autistic behaviors and depressive symptoms. On the other hand, the factor structure of the original CAT-Q did not provide a good fit in the Swedish data set, and validity issues were found, particularly in children younger than 15 years, warranting further investigation of the construct validity of the scale. Different age trajectories were observed, where camouflaging behaviors decreased during adulthood in non-autistic people but remained at an elevated level among autistic people.

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18. Mac Giolla Phadraig C, Asimakopoulou K, Faulks D, Van Harten M, Ledger L, Spencer A, Roux S, Cleary C, Daly B, Waldron C. Using realist methods for intervention development to fill a methodological gap: A case study showing the development of an oral hygiene intervention for people with intellectual developmental disabilities. Community dentistry and oral epidemiology. 2023.

BACKGROUND: Realist methods offer a novel approach to intervention design. Such novelty is needed for effective oral health promotion interventions with people with intellectual developmental disabilities (IDD) and their carers because existing interventions are poorly described and lack theoretical underpinning. In this study, the steps between inception and final intervention development are presented, with an aim to expand understanding of how realist theorizing can be used to develop interventions, and to demonstrate theory-driven intervention development in the field of oral health promotion. METHODS: In this intervention development study, the use of realist methods to develop an intervention aiming to improve the oral hygiene of people with IDD is presented. Realist theories (RTs) arising from a mixed synthesis were used to develop the Keep My Teeth intervention. The use of realist theory in intervention development was mapped across seven domains and 18 actions with emphasis on how theory informed key actions. RESULTS: Realist theories informed many but not all actions in the development process. Where gaps arose, this was augmented with other systems of intervention development, such as the Behaviour Change Wheel (BCW) and Behaviour Change Technique (BCT) systems. The resulting intervention and underlying theory are presented using TiDieR criteria. CONCLUSIONS: It is demonstrated how realist methods could be integrated with substantive theory when developing an intervention. RTs enhanced the contextualization of the intervention that was developed but were insufficient in their own right to guide the development process from conception to intervention. This was overcome by augmenting with substantive theory, in this case, using the BCW and BCT behaviour change systems, to select and specify the behaviours that needed to change. In essence, the BCTs guided which techniques to select, while the RTs guided how to develop and intervene. Robust intervention development in the field of oral health promotion is also presented in this study.

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19. Milea-Milea AC, Fernández-Pérez D, Toledano-González A. The psychological impact of the COVID-19 pandemic on children/adolescents with ASD and their family environment: a systematic review. European child & adolescent psychiatry. 2023: 1-26.

The main objective of the review is to analyze the impact of the pandemic in children/teenagers with Autism spectrum disorder (ASD) and in their family environment. An electronic search was carried out in different databases (PsycInfo, Web of Science and Scopus) in order to find publications associated with the aim of this project. The search terms used were derived from the combination of the following search string: « ((Pandemic OR Epidemic OR Outbreak OR COVID-19 OR Coronavirus) AND (Children OR Adolescents OR Youth OR Child OR Teenager) AND (Autism OR ASD OR Autism Spectrum Disorder)) ». In total, 21 articles were included in this review. The findings of the different investigations included in this review show that the pandemic has produced a negative psychological impact in children/teenagers with ASD. Therefore, long-term follow-up studies should be carried out with the objective of creating effective interventions to treat this problematical.

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20. Möhrle D, Yuen M, Zheng A, Haddad FL, Allman BL, Schmid S. Characterizing maternal isolation-induced ultrasonic vocalizations in a gene-environment interaction rat model for autism. Genes, brain, and behavior. 2023: e12841.

Deficits in social communication and language development belong to the earliest diagnostic criteria of autism spectrum disorders. Of the many risk factors for autism spectrum disorder, the contactin-associated protein-like 2 gene, CNTNAP2, is thought to be important for language development. The present study used a rat model to investigate the potential compounding effects of autism spectrum disorder risk gene mutation and environmental challenges, including breeding conditions or maternal immune activation during pregnancy, on early vocal communication in the offspring. Maternal isolation-induced ultrasonic vocalizations from Cntnap2 wildtype and knockout rats at selected postnatal days were analyzed for their acoustic, temporal and syntax characteristics. Cntnap2 knockout pups from heterozygous breeding showed normal numbers and largely similar temporal structures of ultrasonic vocalizations to wildtype controls, whereas both parameters were affected in homozygously bred knockouts. Homozygous breeding further exacerbated altered pitch and transitioning between call types found in Cntnap2 knockout pups from heterozygous breeding. In contrast, the effect of maternal immune activation on the offspring’s vocal communication was confined to call type syntax, but left ultrasonic vocalization acoustic and temporal organization intact. Our results support the « double-hit hypothesis » of autism spectrum disorder risk gene-environment interactions and emphasize that complex features of vocal communication are a useful tool for identifying early autistic-like features in rodent models.

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21. Pierce K, Wen TH, Zahiri J, Andreason C, Courchesne E, Barnes CC, Lopez L, Arias SJ, Esquivel A, Cheng A. Level of Attention to Motherese Speech as an Early Marker of Autism Spectrum Disorder. JAMA network open. 2023; 6(2): e2255125.

IMPORTANCE: Caregivers have long captured the attention of their infants by speaking in motherese, a playful speech style characterized by heightened affect. Reduced attention to motherese in toddlers with autism spectrum disorder (ASD) may be a contributor to downstream language and social challenges and could be diagnostically revealing. OBJECTIVE: To investigate whether attention toward motherese speech can be used as a diagnostic classifier of ASD and is associated with language and social ability. DESIGN, SETTING, AND PARTICIPANTS: This diagnostic study included toddlers aged 12 to 48 months, spanning ASD and non-ASD diagnostic groups, at a research center. Data were collected from February 2018 to April 2021 and analyzed from April 2021 to March 2022. EXPOSURES: Gaze-contingent eye-tracking test. MAIN OUTCOMES AND MEASURES: Using gaze-contingent eye tracking wherein the location of a toddler’s fixation triggered a specific movie file, toddlers participated in 1 or more 1-minute eye-tracking tests designed to quantify attention to motherese speech, including motherese vs traffic (ie, noisy vehicles on a highway) and motherese vs techno (ie, abstract shapes with music). Toddlers were also diagnostically and psychometrically evaluated by psychologists. Levels of fixation within motherese and nonmotherese movies and mean number of saccades per second were calculated. Receiver operating characteristic (ROC) curves were used to evaluate optimal fixation cutoff values and associated sensitivity, specificity, positive predictive value (PPV), and negative predictive value. Within the ASD group, toddlers were stratified based on low, middle, or high levels of interest in motherese speech, and associations with social and language abilities were examined. RESULTS: A total of 653 toddlers were included (mean [SD] age, 26.45 [8.37] months; 480 males [73.51%]). Unlike toddlers without ASD, who almost uniformly attended to motherese speech with a median level of 82.25% and 80.75% across the 2 tests, among toddlers with ASD, there was a wide range, spanning 0% to 100%. Both the traffic and techno paradigms were effective diagnostic classifiers, with large between-group effect sizes (eg, ASD vs typical development: Cohen d, 1.0 in the techno paradigm). Across both paradigms, a cutoff value of 30% or less fixation on motherese resulted in an area under the ROC curve (AUC) of 0.733 (95% CI, 0.693-0.773) and 0.761 (95% CI, 0.717-0.804), respectively; specificity of 98% (95% CI, 95%-99%) and 96% (95% CI, 92%-98%), respectively; and PPV of 94% (95% CI, 86%-98%). Reflective of heterogeneity and expected subtypes in ASD, sensitivity was lower at 18% (95% CI, 14%-22%) and 29% (95% CI, 24%-34%), respectively. Combining metrics increased the AUC to 0.841 (95% CI, 0.805-0.877). Toddlers with ASD who showed the lowest levels of attention to motherese speech had weaker social and language abilities. CONCLUSIONS AND RELEVANCE: In this diagnostic study, a subset of toddlers showed low levels of attention toward motherese speech. When a cutoff level of 30% or less fixation on motherese speech was used, toddlers in this range were diagnostically classified as having ASD with high accuracy. Insight into which toddlers show unusually low levels of attention to motherese may be beneficial not only for early ASD diagnosis and prognosis but also as a possible therapeutic target.

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22. Prasad T, Iyer S, Chatterjee S, Kumar M. In vivo models to study neurogenesis and associated neurodevelopmental disorders-Microcephaly and autism spectrum disorder. WIREs mechanisms of disease. 2023: e1603.

The genesis and functioning of the central nervous system are one of the most intricate and intriguing aspects of embryogenesis. The big lacuna in the field of human CNS development is the lack of accessibility of the human brain for direct observation during embryonic and fetal development. Thus, it is imperative to establish alternative animal models to gain deep mechanistic insights into neurodevelopment, establishment of neural circuitry, and its function. Neurodevelopmental events such as neural specification, differentiation, and generation of neuronal and non-neuronal cell types have been comprehensively studied using a variety of animal models and in vitro model systems derived from human cells. The experimentations on animal models have revealed novel, mechanistic insights into neurogenesis, formation of neural networks, and function. The models, thus serve as indispensable tools to understand the molecular basis of neurodevelopmental disorders (NDDs) arising from aberrations during embryonic development. Here, we review the spectrum of in vivo models such as fruitfly, zebrafish, frog, mice, and nonhuman primates to study neurogenesis and NDDs like microcephaly and Autism Spectrum Disorder. We also discuss nonconventional models such as ascidians and the recent technological advances in the field to study neurogenesis, disease mechanisms, and pathophysiology of human NDDs. This article is categorized under: Cancer > Stem Cells and Development Congenital Diseases > Stem Cells and Development Neurological Diseases > Stem Cells and Development Congenital Diseases > Genetics/Genomics/Epigenetics.

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23. Qiu S, Qiu Y, Li Y, Zhu X, Liu Y, Qiao Y, Cheng Y, Liu Y. Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population. BMC psychiatry. 2023; 23(1): 96.

BACKGROUND: Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, with an increasing prevalence worldwide. Copy number variation (CNV), as one of genetic factors, is involved in ASD etiology. However, there exist substantial differences in terms of location and frequency of some CNVs in the general Asian population. Whole-genome studies of CNVs in Northeast Han Chinese samples are still lacking, necessitating our ongoing work to investigate the characteristics of CNVs in a Northeast Han Chinese population with clinically diagnosed ASD. METHODS: We performed a genome-wide CNVs screening in Northeast Han Chinese individuals with ASD using array-based comparative genomic hybridization. RESULTS: We found that 22 kinds of CNVs (6 deletions and 16 duplications) were potentially pathogenic. These CNVs were distributed in chromosome 1p36.33, 1p36.31, 1q42.13, 2p23.1-p22.3, 5p15.33, 5p15.33-p15.2, 7p22.3, 7p22.3-p22.2, 7q22.1-q22.2, 10q23.2-q23.31, 10q26.2-q26.3, 11p15.5, 11q25, 12p12.1-p11.23, 14q11.2, 15q13.3, 16p13.3, 16q21, 22q13.31-q13.33, and Xq12-q13.1. Additionally, we found 20 potential pathogenic genes of ASD in our population, including eight protein coding genes (six duplications [DRD4, HRAS, OPHN1, SHANK3, SLC6A3, and TSC2] and two deletions [CHRNA7 and PTEN]) and 12 microRNAs-coding genes (ten duplications [MIR202, MIR210, MIR3178, MIR339, MIR4516, MIR4717, MIR483, MIR675, MIR6821, and MIR940] and two deletions [MIR107 and MIR558]). CONCLUSION: We identified CNVs and genes implicated in ASD risks, conferring perception to further reveal ASD etiology.

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24. Rast JE, Fernandes SJ, Schott W, Shea LL. Disparities by Race and Ethnicity in Inpatient Hospitalizations Among Autistic Adults. Journal of autism and developmental disorders. 2023.

This study examined hospitalizations in a large, all-payer, nationally representative sample of inpatient hospitalizations in the US and identified differences in rates of hospitalization for conditions by race and ethnicity in autistic adults. Conditions examined included mood disorders, epilepsy, schizophrenia, and ambulatory care sensitive conditions (ACSCs). Compared to white, non-Hispanic autistic adults, Black, Hispanic, Asian or Pacific Islander (API), and autistic adults of another race had lower prevalence of admission for a principal diagnosis of a mood disorder. Conversely, Black, Hispanic, API, and autistic adults of another race had higher odds of admission for epilepsy than white autistic adults. Black and Hispanic autistic adults were more likely to have schizophrenia as a principal diagnosis compared to white autistic adults, but only Black autistic adults had increased odds for admission for an ACSCs compared to white autistic adults. Differences in diagnosis prevalence among hospitalized autistic adults may suggest differential access to comprehensive outpatient care that could prevent such hospitalizations, while also pointing to concerns of differential validity of diagnostic tools and treatment approaches. Insurance policy and programs should prioritize optimizing outpatient care to ensure access to care and emphasize the need for equitable treatment.

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25. Ruan H, Eungpinichpong W, Wu H, Aonsri C. Physiological and Psychological Effects of Parent-Delivered Traditional Thai Massage in Children With Autism: Protocol for a Randomized Controlled Trial. JMIR research protocols. 2023; 12: e41839.

BACKGROUND: Although many autistic children receive massage as a complementary therapy, it is not included in evidence-based practice for autism because evidence of its efficacy is lacking. Further, prior studies have failed to identify objective indicators of core symptoms or elucidate their mechanisms. OBJECTIVE: We developed a parent-delivered traditional Thai massage (TTM) intervention for children with autism, aiming to experimentally determine whether children with autism truly experience positive effects from parent-delivered TTM and determine possible mechanisms of the observed effects. METHODS: A 2-armed, parallel randomized controlled trial was conducted between February 2022 and June 2022. Forty-eight children with autism (aged 7-12 years) were recruited from the Hainan Special Education School and randomly assigned to either a parental TTM or control group at a ratio of 1:1 based on random numbers generated with Online Research Randomizer. The generated sequences were concealed in an opaque envelope. Individuals in the parental TTM group received 16 parent-delivered TTM sessions over 8 weeks at the school’s health room after school, and the control group maintained a normal daily routine. Outcomes were assessed on admission, after 8 weeks, and at a 2-month follow-up and included the effect of massage treatment on autism symptoms, measured with the Autism Treatment Evaluation Checklist score (evaluated by parents and a blinded teacher), physiological parameters (ie, heart rate variability and gait), and the Parenting Stress Index, Fourth Edition-Short Form. RESULTS: We finished all data collection on June 20, 2022. Data analysis will be started, and we expect to publish results in 2023. CONCLUSIONS: This study will provide further evidence for massage treatment of autism and provide support for family-based care. TRIAL REGISTRATION: Chinese Clinical Trial Registry ChiCTR2100051355; https://tinyurl.com/3dwjxsw5. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/41839.

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26. Ten Hoopen LW, de Nijs PF, Slappendel G, van der Ende J, Bastiaansen D, Greaves-Lord K, Hakkaart-van Roijen L, Hillegers MH. Associations between autism traits and family functioning over time in autistic and non-autistic children. Autism : the international journal of research and practice. 2023: 13623613231151784.

Little is known about family functioning over time when raising a child with autism traits, with or without a clinical autism diagnosis. Therefore, we asked caregivers-mostly parents-of a group of 168 children about the family functioning and the child’s emotional and behavioral characteristics, as well as autistic traits, twice with about 1 year in between. For numerous reasons, the children were referred to youth mental health care centers, including child and adolescent psychiatric services. Care as usual was offered after the diagnostic assessment if a clinical diagnosis was the assessment outcome. Caregivers reported less problematic family functioning in children with fewer autism traits over time. The child’s additional emotional or behavioral characteristics did not seem to influence this relation. Furthermore, we split the whole group into autistic children with a clinical autism diagnosis (58%) and non-autistic children with autism traits but without a clinical diagnosis (42%) to see whether we would find the same results in both groups. Surprisingly, the relation between family functioning and the level of a child’s autism traits only held for the subgroup of non-autistic children with autism traits. Thus, raising children with autism traits without a clinical diagnosis may affect family functioning over time. We think that families might have difficulty understanding and adjusting to the autism traits of their children but are lacking the support that is exclusively offered to families of children with a clinical autism diagnosis. We must be cautious because we do not know whether there is a causal relation. Although further research is needed to explore and learn to understand this result, clinicians might consider offering support to families of children with subthreshold autism to prevent problems in family functioning. Because high autism trait levels in non-autistic children may be of a different origin than autism, for example, other neurodevelopmental or mental health problems, family training or support should be tailored to the child’s underlying difficulties.

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27. Vutskits L. Opioids and autism spectrum disorder: liaisons dangereuses?. British journal of anaesthesia. 2023.

A recent laboratory study in the Journal examined the effects of repeated exposures of neonatal mice to fentanyl on autism-like behaviour via opioid receptor-mediated DNA hypermethylation of the Grin2B gene, which encodes the GluN2B subunit of the NMDA receptor. These experiments provide mechanisms and biological plausibility but do not directly demonstrate that opioid exposure in early life induces autism spectrum disorder in humans. Experimental modelling of human neuropsychiatric disorders is extremely challenging since most subjective psychiatric symptoms used to establish diagnosis in humans cannot be convincingly ascertained in laboratory rodents. While some human epidemiological data show associations between repeated exposures to opioids during early life, it remains undetermined whether opioid exposure is an independent risk factor for developing autism spectrum disorder in the young.

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28. Wang X, Weng X, Pan N, Li X, Lin L, Jing J. Prevalence of Autism Spectrum Disorder in the United States is Stable in the COVID-19 Era. Journal of autism and developmental disorders. 2023: 1-4.

Although the United States (US) have been monitoring the autism spectrum disorder (ASD) prevalence, whether the prevalence has continued to increase, decrease, fluctuate or reached a stable level remained unclear during the COVID-19 pandemic. We have requested the 2016-2021 National Survey of Children’s Health (NSCH) data in the United States to estimate weighted ASD prevalence and assess linearity/nonlinearity in the time trend. We did not observe linear or nonlinear trends of the ASD prevalence during the 2016-2021 periods. The current ASD prevalence experienced a 0.3% drop from 2019 to 2020 but a 0.3% uptick in 2021, suggesting a stable trend during the COVID-19 pandemic. Our findings shed lights on the need for the modified strategy of monitor ASD prevalence during the COVID-19 era.

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29. Zamzow R. Autism researchers face off over language. Science (New York, NY). 2023; 379(6632): 523-4.

Terminology dispute underscores divide about what direction the field should take.

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30. Zhu GQ, Dong P, Li DY, Hu CC, Li HP, Lu P, Pan XX, He LL, Xu X, Xu Q. Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review. BMC medical genomics. 2023; 16(1): 22.

BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, MIM 616,803) is a rare neurodevelopmental disorder due to haploinsufficiency of SOX5. Furthermore, studies about the clinical features of LAMSHF patients with same allele of c.1477C > T (p. R493*) are very limited. CASE PRESENTATION: We analyzed the phenotypes of one of our cases and two previously reported cases with c.1477C > T (p. R493*), and reviewed the correlating literature. A de novo heterozygous variation c.1477C > T (p. R493*) in SOX5 was identified in a 4 years and 2 months old boy with global development delay by trio-based whole exome sequencing. We compared our case and previously 2 cases reported with recurrent variation, the overlapping clinical features are global developmental delay or intellectual disability, language delay and scoliosis, but their other clinical characteristics are different. CONCLUSIONS: This study suggests that the clinical features of LAMSHF patients with recurrent variations in the SOX5 gene are different. It is suggested that the LAMSHF-related SOX5 gene should be screened and included as one of the candidate genes for neurodevelopmental disorders of unknown etiology.

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