1. [Expert consensus on early diagnosis of autism spectrum disorder in Chinese young children]. Zhonghua Er Ke Za Zhi;2022 (Jul 2);60(7):640-646.

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2. Andonovski ME, Antonarakis GS. Autism spectrum disorder and dentoalveolar trauma: a systematic review and meta-analysis. J Stomatol Oral Maxillofac Surg;2022 (Jun 28)

OBJECTIVES: Patients with autism spectrum disorder (ASD) may be more predisposed to oral pathology, including dentoalveolar trauma. Our aim was to assess the risk of dentoalveolar trauma in patients with ASD. MATERIALS AND METHODS: Meta-analysis methodology was used to compared the prevalence of dentoalveolar trauma in individuals with ASD compared to children without ASD. A literature search was carried out, with predefined inclusion and exclusion criteria, to identify controlled studies evaluating dentoalveolar trauma in individuals with ASD. Data were combined using the random-effects meta-analysis model. RESULTS: Out of an initial 154 studies, 14 were selected for inclusion in the meta-analysis, resulting in a total of 1488 individuals with ASD. Meta-analysis results showed significant difference in the overall risk of dentoalveolar trauma between individuals with ASD versus a control group (RR = 1.45). Looking at specific types of dentoalveolar trauma, individuals with ASD were found to be more at risk for partial or total luxation injuries (RR = 3.02) than healthy individuals. CONCLUSIONS: Children with ASD are more at risk for dentoalveolar trauma than children without ASD, especially for more severe dentoalveolar trauma such as luxation and avulsion injuries.

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3. Babb C, Brede J, Jones CRG, Serpell L, Mandy W, Fox J. A comparison of the eating disorder service experiences of autistic and non-autistic women in the UK. Eur Eat Disord Rev;2022 (Jul 1)

OBJECTIVE: Qualitative studies report that autistic women have poor experiences when being treated for an eating disorder (ED) and express that ED services are not appropriately tailored to meet their needs. It is unclear whether their experience differs to other women accessing ED services. The aim of the current study was to compare autistic and non-autistic women’s ED illness history and experiences in ED services. METHOD: An online survey about ED illness history and their experience with ED treatment was completed by 46 autistic women with a restrictive ED and 110 non-autistic women with a restrictive ED. RESULTS: Despite some similarities, there were three key differences in the experiences reported by autistic and non-autistic women. First, autistic women reported a longer duration of ED and being diagnosed with an ED at a younger age than non-autistic women. Second, autistic women reported accessing a broader range of healthcare settings and ED treatments than non-autistic women when being treated for an ED. Finally, autistic women rated their experiences of inpatient care, dietetic input, and cognitive behavioural therapy (CBT) as significantly less beneficial than non-autistic women when being treated for an ED. CONCLUSION: These findings increase understanding of autistic women’s ED experience and can help to shape ED services and treatments to better accommodate the needs of their autistic clients.

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4. Bhat A. Why add motor to the definition of ASD: A response to Bishop et al.’s critique of Bhat (2021). Autism Res;2022 (Jul 2)

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5. Bishop SL, Wickstrom J, Thurm A. Insufficient evidence for inclusion of motor deficits in the ASD diagnostic criteria: A response to Bhat (2021). Autism Res;2022 (Jul 2)

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6. Kalingel-Levi M, Schreuer N, Granovsky Y, Bar-Shalita T, Weissman-Fogel I, Hoffman T, Gal E. « When I’m in Pain, Everything Is Overwhelming »: Implications of Pain in Adults With Autism on Their Daily Living and Participation. Front Psychol;2022;13:911756.

Pain sensation in autism spectrum disorder (ASD) has been a growing research field in the last two decades. Existing pain research has focused on pain sensitivity, suggesting either hyposensitivity or hypersensitivity to pain in individuals with ASD. However, research about other aspects of pain experience is scarce. Moreover, most pain-related research in ASD focused on quantitative measures, such as neuroimaging or parental reports. Instead, this paper aimed to illuminate the various aspects of pain experience as perceived by adults with ASD. Its descriptive qualitative research design incorporated semi-structured interviews and deductive thematic analysis. This phenomenological approach captured the subjective pain experience through the lens of people with ASD. Four primary themes emerged from the data: (a) physical pain experience, including the sequence of pain sensitivity, pain awareness, pain-related emotional aspects, and pain communication; (b) direct and indirect coping strategies; (c) function and participation outcomes; and (d) suggestions for Healthcare Providers. The findings echo the crucial role of pain awareness and communication in the pain experience of people with ASD. These two factors have been reported as profoundly influencing coping strategies, function, and participation. The results emphasize the need to expand the exploration of pain in this population, calling for greater understanding, and listening to this population’s unique pain profiles and experiences to promote better-suited evaluation, diagnosis, and intervention in pain conditions.

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7. Klein C, Miczuga T, Kost MS, Röring H, Jarczok TA, Bast N, Thiemann U, Fleischhaker C, Tebartz Van Elst L, Riedel A, Biscaldi M. An German Short-Version of the « Sensory Perception Quotient » for Adults With Autism Spectrum Disorder. Front Psychiatry;2022;13:781409.

Sensory features in autism spectrum disorder (ASD) have received increasing interest in clinical work and research during the recent years. With the Sensory Perception Quotient (SPQ), Tavasolli and colleagues have produced a self-rating scale for adults with ASD that measures sensory hyper-sensitivity in different sensory modalities, without also tapping cognitive or motivational aspects that precede or follow autistic sensory experiences. Here, we present the results of a translation of the SPQ to German and its short version as well as their validation in samples of autistic or neuro-typical participants. We, furthermore, present the psychometric properties and validities of Tavasolli’s original SPQ-short version as well as an alternative short version based on different psychometric item-selection criteria. We can show here that our alternative SPQ-short version, overlapping with the original short-version in 61% of its items, exhibits superior reliabilities, reasonable concurrent validities with other related measures. It, furthermore, exhibits excellent differentiation between autistic and non-autistic samples, underscoring its utility as a screening instrument in research and a clinical instrument to supplement the ASD diagnostic process.

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8. Martinez-Cayuelas E, Gavela-Pérez T, Rodrigo-Moreno M, Merino-Andreu M, Vales-Villamarín C, Pérez-Nadador I, Garcés C, Soriano-Guillén L. Melatonin Rhythm and Its Relation to Sleep and Circadian Parameters in Children and Adolescents With Autism Spectrum Disorder. Front Neurol;2022;13:813692.

INTRODUCTION: Sleep problems are prevalent among individuals with autism spectrum disorder (ASD), and a role has been attributed to melatonin in this multifactorial comorbidity. METHODS: A cross-sectional study was conducted on 41 autistic children and adolescents (9.9 ± 3.02) and 24 children and adolescents with a normal intellectual function (8.42 ± 2.43) were used as controls. Subjects were matched for sex, body mass index, and pubertal stage, and all were drug-naive. Circadian and sleep parameters were studied using an ambulatory circadian monitoring (ACM) device, and saliva samples were collected around the onset of sleep to determine dim light melatonin onset (DLMO). RESULTS: Prepubertal individuals with ASD presented later DLMO and an earlier decline in melatonin during adolescence. A relationship was found between melatonin and both sleep and circadian parameters. Participants and controls with later DLMOs were more likely to have delayed sleep onset times. In the ASD group, subjects with the later daytime midpoint of temperature had a later DLMO. Later melatonin peak time and DLMO time were related to lower general motor activity and lower stability of its rhythms. CONCLUSION: The melatonin secretion pattern was different in individuals with ASD, and it showed a relationship with sleep and circadian parameters. Alterations in DLMO have not been previously reported in ASD with the exception of more variable DLMO timing; however, high variability in the study design and sample characteristics prevents direct comparison. The ACM device enabled the measurement of circadian rhythm, a scarcely described parameter in autistic children. When studied in combination with other measures such as melatonin, ACM can offer further knowledge on sleep problems in ASD.

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9. Mazzoli F, Cassioli E, Ristori J, Castellini G, Rossi E, Cocchetti C, Romani A, Angotti T, Giovanardi G, Mosconi M, Lingiardi V, Speranza AM, Ricca V, Vignozzi L, Maggi M, Fisher AD. Apparent autistic traits in transgender people: a prospective study of the impact of gender-affirming hormonal treatment. J Endocrinol Invest;2022 (Jul 2)

PURPOSE: We evaluated differences in Autism Spectrum Quotient (AQ) scores between a sample of hormone-naïve transgender and cisgender people and the impact of gender-affirming hormonal treatment (GAHT) on AQ scores across time. Furthermore, we assessed alexithymia and social anxiety as possible mediators of changes in AQ scores. METHODS: A cross-sectional comparison between cisgender and transgender people before GAHT and a prospective study on the effects of GAHT over time were performed. Transgender and cisgender people completed several psychometric tests. A total sample of 789 persons (n = 229 cismen; n = 172 ciswomen; n = 206 transmen; n = 182 transwomen) referring to the Florence and Rome Gender Clinics between 2018 and 2020 was enrolled. Of these, 62 participants referring to the Florence Gender Clinic were evaluated in a prospective study at baseline and 12 months after GAHT. RESULTS: Groups showed significant differences in terms of autistic traits: ciswomen showed lower scores of AQ, while cismen reported higher scores of AQ than all other groups. Transgender individuals showed significant higher levels of Gender Dysphoria (GD), body uneasiness, alexithymia and social anxiety, compared to cisgender ones. No significant differences in general psychopathology were found between groups. Across time, transmen and transwomen showed a significant reduction in AQ scores. The decrease in alexithymia and social anxiety after GAHT did not predict the change in AQ scores. CONCLUSIONS: The autistic traits in our sample may represent an epiphenomenon of GD rather than being part of an Autism Spectrum Disorder (ASD) condition, since they significantly decreased after 12 months of GAHT.

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10. Reece AS, Hulse GK. Impact of converging sociocultural and substance-related trends on US autism rates: combined geospatiotemporal and causal inferential analysis. Eur Arch Psychiatry Clin Neurosci;2022 (Jul 2)

Whilst cannabis is known to be toxic to brain development, it is unknown if it is driving rising US autism rates (ASMR). A longitudinal epidemiological study was conducted using national autism census data from the US Department of Education Individuals with Disabilities Act (IDEA) 1991-2011 and nationally representative drug exposure (cigarettes, alcohol, analgesic, and cocaine abuse, and cannabis use monthly, daily, and in pregnancy) datasets from National Survey of Drug Use and Health and US Census (income and ethnicity) and CDC Wonder population and birth data. Analysis was conducted in R. 266,950 were autistic of a population of 40,119,464 8-year-olds in 1994-2011. At national level after adjustment, daily cannabis use was significantly related to ASMR (β estimate = 4.37 (95%C.I. 4.06, 4.68), P < 2.2 × 10(-16)) as was first pregnancy trimester cannabis exposure (β estimate = 0.12 (0.08, 0.16), P = 1.7 × 10(-12)). At state level following adjustment for cannabis, cannabigerol (from β estimate = - 13.77 (- 19.41, 8.13), P = 1.8 × 10(-6)) and Δ9-tetrahydrocannabinol (from β estimate = 1.96 (0.88-3.04), P = 4 × 10(-4)) were significant. Geospatial state-level modelling showed exponential relationship between ASMR and Δ9-tetrahydrocannabinol and cannabigerol exposure. Exponential coefficients for the relationship between modelled ASMR and Δ9-tetrahydrocannabinol and cannabigerol exposure were 7.053 (6.39-7.71) and 185.334 (167.88-202.79; both P < 2.0 × 10(-7)). E-values are an instrument related to the evidence for causality in observational studies. High E-values were noted. Dichotomized legal status was linked with elevated ASMR. Data show cannabis use is associated with ASMR, is powerful enough to affect overall trends, and persists after controlling for other major covariates. Cannabinoids are exponentially associated with ASMR. The cannabis-autism relationship satisfies criteria of causal inference.

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11. Schulte-Rüther M, Kulvicius T, Stroth S, Wolff N, Roessner V, Marschik PB, Kamp-Becker I, Poustka L. Using machine learning to improve diagnostic assessment of ASD in the light of specific differential and co-occurring diagnoses. J Child Psychol Psychiatry;2022 (Jul 1)

BACKGROUND: Diagnostic assessment of ASD requires substantial clinical experience and is particularly difficult in the context of other disorders with behavioral symptoms in the domain of social interaction and communication. Observation measures such as the Autism Diagnostic Observation Schedule (ADOS) do not take into account such co-occurring disorders. METHOD: We used a well-characterized clinical sample of individuals (n = 1,251) that had received detailed outpatient evaluation for the presence of an ASD diagnosis (n = 481) and covered a range of additional overlapping diagnoses, including anxiety-related disorders (ANX, n = 122), ADHD (n = 439), and conduct disorder (CD, n = 194). We focused on ADOS module 3, covering the age range with particular high prevalence of such differential diagnoses. We used machine learning (ML) and trained random forest models on ADOS single item scores to predict a clinical best-estimate diagnosis of ASD in the context of these differential diagnoses (ASD vs. ANX, ASD vs. ADHD, ASD vs. CD), in the context of co-occurring ADHD, and an unspecific model using all available data. We employed nested cross-validation for an unbiased estimate of classification performance and made available a Webapp to showcase the results and feasibility for translation into clinical practice. RESULTS: We obtained very good overall sensitivity (0.89-0.94) and specificity (0.87-0.89). In particular for individuals with less severe symptoms, our models showed increases of up to 35% in sensitivity or specificity. Furthermore, we analyzed item importance profiles of the ANX, ADHD, and CD models in comparison with the unspecific model revealing distinct patterns of importance for specific ADOS items with respect to differential diagnoses. CONCLUSIONS: ML-based diagnostic classification may improve clinical decisions by utilizing the full range of information from detailed diagnostic observation instruments such as the ADOS. Importantly, this strategy might be of particular relevance for older children with less severe symptoms for whom the diagnostic decision is often particularly difficult.

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12. Wang Y, Guo X, Hong X, Wang G, Pearson C, Zuckerman B, Clark AG, O’Brien KO, Wang X, Gu Z. Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism. Nat Commun;2022 (Jul 1);13(1):3790.

Mitochondria are essential for brain development. While previous studies linked dysfunctional mitochondria with autism spectrum disorder (ASD), the role of the mitochondrial genome (mtDNA) in ASD risk is largely unexplored. This study investigates the association of mtDNA heteroplasmies (co-existence of mutated and unmutated mtDNA) and content with ASD, as well as its inter-generational transmission and sex differences among two independent samples: a family-based study (n = 1,938 families with parents, probands and sibling controls) and a prospective birth cohort (n = 997 mother-child pairs). In both samples, predicted pathogenic (PP) heteroplasmies in children are associated with ASD risk (Meta-OR = 1.56, P = 0.00068). Inter-generational transmission of mtDNA reveals attenuated effects of purifying selection on maternal heteroplasmies in children with ASD relative to controls, particularly among males. Among children with ASD and PP heteroplasmies, increased mtDNA content shows benefits for cognition, communication, and behaviors (P ≤ 0.02). These results underscore the value of exploring maternal and newborn mtDNA in ASD.

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