1. Backer van Ommeren T, Vreugdenhil M, Koot HM, Spek A, Scheeren AM, Jertberg RM, Begeer S. A New Real-Life Test for Reciprocity in Autistic Adults: The Interactive Drawing Test. Frontiers in psychiatry. 2022; 13: 842902.

Impaired social-emotional reciprocity is a defining feature of Autism Spectrum Disorder (ASD). Deficits in reciprocity can be difficult to assess, particularly in adults with average or above average intelligence. The recently developed Interactive Drawing Test (IDT) measures reciprocity in children and adolescents with and without ASD based on spontaneous non-verbal interactions during the joint creation of a drawing. In this study, we examined if the IDT is able to differentiate between 19 normally intelligent adults with ASD and 18 without ASD. The IDT total reciprocity score, including the number of meaningful contributions to objects initially drawn by the examiner, was lower in the autistic adults compared to those without ASD. By assessing both the quantity and quality of spontaneous reciprocal behavior, the IDT was able to identify subtle differences in reciprocal behavior of adults with and without ASD with average intelligence. Even though a larger sample is required to determine its psychometric properties, the IDT appears a promising tool to enrich the diagnostic process of ASD in adults. Impaired social-emotional reciprocity is a defining feature of Autism Spectrum Disorder (ASD). The clinical field lacks sensitive tests for assessing impaired reciprocity. The recently developed Interactive Drawing Test (IDT) for reciprocity was tested in autistic and non-autistic adults. During the IDT, an examiner and participant make a joint drawing, taking turns, without specifying what they will draw. We aimed to investigated whether autistic adults showed less reciprocal behavior on the IDT compared to non-autistic participants. Autistic participants were less likely to jointly draw with the examiner, in particular when the examiner initiated a topic. The IDT revealed subtle but characteristic differences in reciprocal behavior related to ASD, suggesting it may be a promising diagnostic tool.

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2. Carter Leno V, Micali N, Bryant-Waugh R, Herle M. Associations between childhood autistic traits and adolescent eating disorder behaviours are partially mediated by fussy eating. European eating disorders review : the journal of the Eating Disorders Association. 2022.

OBJECTIVE: Previous literature shows an increased risk for eating disorders in autistic individuals. This study tested whether fussy eating contributes to the association between childhood autistic traits and adolescent eating disorder behaviours. METHOD: Using data from the Avon Longitudinal Study of Parents and Children, we estimated the intercept and slope of parent-rated autistic traits and fussy eating between 7 and 14 years (N = 8982) and their association with self-reported eating disorder behaviours at age 14 years, including the indirect path from autistic traits to eating disorder behaviours via fussy eating. Analyses were adjusted for child sex, maternal age at delivery, maternal body mass index and maternal education. RESULTS: Analyses found a small indirect pathway from autistic traits intercept to eating disorder behaviours via fussy eating slope (b = 0.017, 95% CI = 0.002-0.032, p = 0.026), with higher levels of autistic traits at age 7 years being associated with a shallower decline in fussy eating, which in turn was associated with greater eating disorder behaviours. CONCLUSION: Findings point towards fussy eating as a potential link between childhood autistic traits and later disordered eating. Addressing fussy eating patterns before they become entrenched may decrease risk for eating disorders later in development.

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3. Dell’Osso L, Toschi D, Amatori G, Gesi C. Rethinking Catatonia: New Insights from the Autism Spectrum. CNS & neurological disorders drug targets. 2022.

Initially conceptualized as a subtype of schizophrenia, catatonia has progressively been recognized to occur in a broad variety of conditions, as a kind of final common pathway for many severe men-tal disorders. There is a significant overlap between the fundamental symptoms of Autism Spectrum Disorder (ASD) and catatonia, and ASD can frequently complicate with catatonic states. While provocative, the hypothesis that neuroatypicality may represent the submerged structural piece un-derlying catatonic states is intriguing. Yet, the multifaced relationship between catatonia and ASD may provide new insights in the etiology and treatment of both disorders.

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4. Djuric-Zdravkovic A, Japundza-Milisavljevic M, Perovic D. Parental Stress of Children with Autism Spectrum Disorder During the Coronavirus Pandemic (COVID-19): Experience from Serbia. Fortschritte der Neurologie-Psychiatrie. 2022.

OBJECTIVE: Taking care of children with autism spectrum disorder (ASD), as of children with other developmental disorders, is associated with greater parental stress. The aim of this study was to determine the prevalence and impact of integrative and co-morbid ASD-related symptoms on parental stress levels during the COVID-19 pandemic at four time points. Testing was performed during significant changes related to the state of the COVID-19 pandemic in Serbia. METHODS: The research sample included 67 parents of children with ASD 4 to 7 years and 6 months of age. The Autism Parenting Stress Index, Gilliam Autism Rating Scale – Third Edition, diagnostic criteria for ASD from DSM-5 and Wechsler Preschool and Primary Scale of Intelligence – Fourth Edition were used to assess the tested abilities. RESULTS: Core behavior (problems of social development and communication skills) as well as co-morbid behaviors related to ASD (tantrums, aggressive behavior, self-injurious behavior and difficulties with transitions) caused the highest degree of parental stress. Post hoc tests that used Bonferroni correction found that parental stress caused by basic and co-morbid behaviors gradually decreased from first to fourth measurement, respectively. Sleep and toilet training problems, as well as co-morbid physical problems, caused the greatest degree of parental stress during the first measurement. Measuring total parental stress caused by integrative and co-morbid symptoms related to ASD showed that it was at the highest level during the first measurement, decreased during the second measurement and remained unchanged during the third and fourth measurements. CONCLUSION: Time, as a repeating factor, during the COVID-19 pandemic has an effect on lowering the levels of parental stress caused by all examined ASD-related domains. These results may be useful in creating individual programs to support parents of children with ASD during the COVID-19 pandemic.

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5. Gong T, Lundholm C, Lundström S, Kuja-Halkola R, Taylor MJ, Almqvist C. Understanding the relationship between asthma and autism spectrum disorder: a population-based family and twin study. Psychological medicine. 2022: 1-9.

BACKGROUND: There is some evidence that autism spectrum disorder (ASD) frequently co-occurs with immune-mediated conditions including asthma. We aimed to explore the familial co-aggregation of ASD and asthma using different genetically informed designs. METHODS: We first examined familial co-aggregation of asthma and ASD in individuals born in Sweden from 1992 to 2007 (n = 1 569 944), including their full- and half-siblings (n = 1 704 388 and 356 544 pairs) and full cousins (n = 3 921 890 pairs), identified using Swedish register data. We then applied quantitative genetic modeling to siblings (n = 620 994 pairs) and twins who participated in the Child and Adolescent Twin Study in Sweden (n = 15 963 pairs) to estimate the contribution of genetic and environmental factors to the co-aggregation. Finally, we estimated genetic correlations between traits using linkage disequilibrium score regression (LDSC). RESULTS: We observed a within-individual association [adjusted odds ratio (OR) 1.33, 95% confidence interval (CI) 1.28-1.37] and familial co-aggregation between asthma and ASD, and the magnitude of the associations decreased as the degree of relatedness decreased (full-siblings: OR 1.44, 95% CI 1.38-1.50, maternal half-siblings: OR 1.28, 95% CI 1.18-1.39, paternal half-siblings: OR 1.05, 95% CI 0.96-1.15, full cousins: OR 1.06, 95% CI 1.03-1.09), suggesting shared familial liability. Quantitative genetic models estimated statistically significant genetic correlations between ASD traits and asthma. Using the LDSC approach, we did not find statistically significant genetic correlations between asthma and ASD (coefficients between -0.09 and 0.12). CONCLUSIONS: Using different genetically informed designs, we found some evidence of familial co-aggregation between asthma and ASD, suggesting the weak association between these disorders was influenced by shared genetics.

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6. John Thurman A, Hoyos Alvarez C, Nguyen V. Using weighted communication scoring procedures in naturalistic play samples: Preliminary validation in preschool-aged boys with autism or fragile X syndrome. Autism research : official journal of the International Society for Autism Research. 2022.

In the present study, we provide a preliminary evaluation of the validity and reliability of using weighting procedures to measure communication in play samples for preschool-aged boys with autism or fragile X syndrome (FXS). Because weighting procedure communication scores (WPCSs) reflect growth in both communicative frequency and complexity, establishing the psychometrics of the component scores, in addition to the overall metric, affords investigators the opportunity to describe growth within and across skills. Results, for both groups, provide support regarding the psychometric appropriateness (i.e., convergent validity, divergent validity, and internal consistency) for all WPCSs. That said, a trend was observed for reliability scores to be slightly lower or more variable in boys with autism than in boys with FXS. Finally, although significant associations were observed in the associations between WPCSs across play contexts, contexts effects were observed for all three WPCSs. Together, results from this study provide promising preliminary data indicating the utility of using WPCSs in children with neurodevelopmental disabilities. Lay Summary: Language supports long-term positive outcomes; it is important to identify accurate and flexible ways of measuring language in children over time. We considered the effectiveness of using a procedure that considers changes in the number of communication acts and the types of acts produced during a play session by preschool-aged boys with autism or fragile X syndrome. These procedures were found to be valid and reliable.

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7. Leite A, Pinto IP, Leijsten N, Ruiterkamp-Versteeg M, Pfundt R, de Leeuw N, da Cruz AD, Minasi LB. Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil. PloS one. 2022; 17(4): e0266493.

Intellectual Disability (ID) is a neurodevelopmental disorder that affects approximately 3% of children and adolescents worldwide. It is a heterogeneous and multifactorial clinical condition. Several methodologies have been used to identify the genetic causes of ID and in recent years new generation sequencing techniques, such as exome sequencing, have enabled an increase in the detection of new pathogenic variants and new genes associated with ID. The aim of this study was to evaluate exome sequencing with analysis of the ID gene panel as a tool to increase the diagnostic yield of patients with ID/GDD/MCA in Central Brazil, together with karyotype and CMA tests. A retrospective cohort study was carried out with 369 patients encompassing both sexes. Karyotype analysis was performed for all patients. CMA was performed for patients who did not present structural and or numerical alterations in the karyotype. Cases that were not diagnosed after performing karyotyping and CMA were referred for exome sequencing using a gene panel for ID that included 1,252 genes. The karyotype identified chromosomal alterations in 34.7% (128/369). CMA was performed in 83 patients who had normal karyotype results resulting in a diagnostic yield of 21.7% (18/83). Exome sequencing with analysis of the ID gene panel was performed in 19 trios of families that had negative results with previous methodologies. With the ID gene panel analysis, we identified mutations in 63.1% (12/19) of the cases of which 75% (9/12) were pathogenic variants,8.3% (1/12) likely pathogenic and in 16.7% (2/12) it concerned a Variant of Uncertain Significance. With the three methodologies applied, it was possible to identify the genetic cause of ID in 42.3% (156/369) of the patients. In conclusion, our studies show the different methodologies that can be useful in diagnosing ID/GDD/MCA and that whole exome sequencing followed by gene panel analysis, when combined with clinical and laboratory screening, is an efficient diagnostic strategy.

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8. Li G, Chen MH, Li G, Wu D, Lian C, Sun Q, Rushmore RJ, Wang L. Volumetric Analysis of Amygdala and Hippocampal Subfields for Infants with Autism. Journal of autism and developmental disorders. 2022.

Previous studies have demonstrated abnormal brain overgrowth in children with autism spectrum disorder (ASD), but the development of specific brain regions, such as the amygdala and hippocampal subfields in infants, is incompletely documented. To address this issue, we performed the first MRI study of amygdala and hippocampal subfields in infants from 6 to 24 months of age using a longitudinal dataset. A novel deep learning approach, Dilated-Dense U-Net, was proposed to address the challenge of low tissue contrast and small structural size of these subfields. We performed a volume-based analysis on the segmentation results. Our results show that infants who were later diagnosed with ASD had larger left and right volumes of amygdala and hippocampal subfields than typically developing controls.

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9. McLeod JWH, McCrimmon AW. Variables Associated With Successful Treatment Outcomes of Autistic Youth Enrolled in PEERS. Frontiers in psychiatry. 2022; 13: 834801.

This study sought to examine how certain variables of autistic youth who completed a formal social intervention program (PEERS) predicted social skill improvement post intervention. Specifically, this research aimed to determine if age, gender, emotional intelligence, intellectual ability, and/or autism symptomatology predicted social skill outcomes. Using extant data from parent and self-report batteries, change scores and multiple regressions were employed to examine which variables accounted for social skill improvement. Only intellectual ability (FSIQ), specifically perceptual reasoning, significantly predicted social skill outcomes based upon teen self-report, suggesting that autistic youth with specific cognitive profiles may be benefit more from PEERS. This research also exemplifies the heterogeneous nature of autism symptomology and the continued need for research examining social skill interventions. Limitations and future directions are discussed.

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10. Meng Y, Xu D, Zhang W, Meng W, Lan X, Wang X, Li M, Zhang X, Zhao Y, Yang H, Zhang R, Zhen Z. Effect of Early Swimming on the Behavior and Striatal Transcriptome of the Shank3 Knockout Rat Model of Autism. Neuropsychiatric disease and treatment. 2022; 18: 681-94.

BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder characterized by social behavior deficits and stereotyped behaviors in childhood that lacks satisfactory medical intervention. Early swimming intervention is a noninvasive method combining enriched environment and exercise, which has been proven to improve brain development in young children and to treat neurodevelopmental diseases. METHODS: In this study, we tested the autism-like behavior of rats with deletions in exons 11-21 of the Shank3 gene and evaluated the effect of early swimming intervention (from postnatal day 8 to 60) on the behavior of this animal model of autism. In addition, the transcriptomes of the striatal tissues of wild-type, Shank3 knockout and Shank3 knockout swimming groups rats were analyzed. RESULTS: Shank3 knockout rats exhibit core symptoms of autism, and early swimming improved the social and stereotyped behaviors in this autism rat model. Transcriptomics results revealed that compared to the wild-type group, 291 differentially expressed genes (DEGs) were identified in the striatum of the Shank3 knockout group. Compared to Shank3 knockout group, 534 DEGs were identified in the striatum of Shank3 knockout swimming group. The DEGs annotated by Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway shows that the impacts of Shank3 deletion were primarily reflected in synaptic structure, development, morphology, receptor function and signaling, and swimming primarily changed the terms related to the synapses in the striatum of Shank3 knockout rats, including the morphology, structure, composition, development and regulation of synapses. CONCLUSION: Early swimming intervention can ameliorate behavioral abnormalities caused by Shank3 knockout, by a mechanism that may involve the process of striatal synaptic development and should be further investigated.

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11. O’Hagan B, Sonikar P, Grace R, Castillo D, Chen E, Agrawal M, Dufresne S, Rossetti Z, Bartolotti L, Krauss S. Youth and Caregivers’ Perspective on Teens Engaged as Mentors (TEAM): An Inclusive Peer Mentoring Program for Autistic Adolescents. Journal of autism and developmental disorders. 2022.

Past studies indicate that many autistic youth benefit from support with developing social relationships, exploring leadership opportunities, and engaging in post-secondary education. Teens Engaged as Mentors (TEAM) is an innovative mentoring program that provides socialization and community engagement opportunities in a safe environment for youth with and without autism. This qualitative study explored how participants and their caregivers perceived participation in TEAM. Stakeholder focus groups were conducted annually from 2016 to 2020 with 16 autistic mentees (ages 9-13), 30 autistic and neurotypical mentors (ages 14-21), and 30 caregivers. Participants reported enjoying TEAM because of increased socialization opportunities, which promoted friendships and openness toward others. Caregivers reported growth in their children’s social skills and confidence throughout their participation.

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12. Pedini G, Bagni C. Epigenetic switch controls social actions. Neuron. 2022; 110(7): 1085-7.

Mutations in epigenetic factors are associated with autism spectrum disorder (ASD). In this issue of Neuron, Yan et al. (2022) show that the antagonism of ASH1L and PRC2 switches the equilibrium of histone methylation at the ephrin receptor A7 locus, causing decreased EphA7 expression, deficits in synaptic pruning, and ASD-like behaviors.

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13. Powell K, Macari S, Brennan-Wydra E, Feiner H, Butler M, Goncalves Fortes D, Boxberger A, Torres-Viso M, Morgan C, Lyons M, Chawarska K. Elevated symptoms of executive dysfunction predict lower adaptive functioning in 3-year-olds with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2022.

Executive functioning (EF) deficits co-occur frequently with autism spectrum disorder (ASD) and have a long-term detrimental impact on quality of life of children and their families. Timely identification of risk for EF vulnerabilities may hasten access to early intervention and alleviate their long-term consequences. This study examines (1) if EF deficits are elevated in toddlers with ASD compared to nonautistic siblings of children with ASD, typically developing (TYP) toddlers, and toddlers with atypical developmental presentation; and (2) if EF deficits have a detrimental effect on adaptive functioning in ASD. Participants were recruited between September 2014 and October 2019 and included 73 toddlers with ASD, 33 nonautistic siblings of children with ASD, 35 toddlers with atypical development, and 28 TYP toddlers matched on chronological age (M = 39.01 months, SD = 3.11). EF deficits were measured using the BRIEF-P; adaptive skills were measured using the VABS-II. Whenever appropriate, analyses were controlled for MSEL verbal and nonverbal developmental quotient, ADOS-2 autism severity scores, and sex. Analyses revealed that toddlers with ASD exhibited elevated BRIEF-P scores across all domains compared to each of the three comparison groups. Higher BRIEF-P scores were associated with lower adaptive social, communication, and daily living skills while controlling for symptom severity, verbal and nonverbal functioning, and sex. In conclusion, marked vulnerabilities in EF are already present in 3-year-old toddlers with ASD and are predictive of the level of adaptive functioning in ASD. EF vulnerabilities in toddlers should be targeted for intervention to improve long-term outcomes in ASD. LAY SUMMARY: Many children with autism experience vulnerabilities in executive functioning (EF), which may include challenges with inhibition, working memory, cognitive flexibility, and planning. The study shows that these vulnerabilities can already be detected at age three and that their presence is linked with lower social, communication, and daily living skills. Screening children with ASD for EF challenges and helping those who have difficulties may improve their long-term outcomes.

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14. Qin Y, Du Y, Chen L, Liu Y, Xu W, Liu Y, Li Y, Leng J, Wang Y, Zhang XY, Feng J, Zhang F, Jin L, Qiu Z, Gong X, Wang H. A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling. Molecular psychiatry. 2022.

The genetic etiology and underlying mechanism of autism spectrum disorder (ASD) remain elusive. SHANK family genes (SHANK1/2/3) are well known ASD-related genes. However, little is known about how SHANK missense mutations contribute to ASD. Here, we aimed to clarify the molecular mechanism of and the multilevel neuropathological features induced by Shank1 mutations in knock-in (KI) mice. In this study, by sequencing the SHANK1 gene in a cohort of 615 ASD patients and 503 controls, we identified an ASD-specific recurrent missense mutation, c.2621 G > A (p.R874H). This mutation demonstrated strong pathogenic potential in in vitro experiments, and we generated the corresponding Shank1 R882H-KI mice. Shank1 R882H-KI mice displayed core symptoms of ASD, namely, social disability and repetitive behaviors, without confounding comorbidities of abnormal motor function and heightened anxiety. Brain structural changes in the frontal cortex, hippocampus and cerebellar cortex were observed in Shank1 R882H-KI mice via structural magnetic resonance imaging. These key brain regions also showed severe and consistent downregulation of mGluR1-IP3R1-calcium signaling, which subsequently affected the release of intracellular calcium. Corresponding cellular structural and functional changes were present in Shank1 R882H-KI mice, including decreased spine size, reduced spine density, abnormal morphology of postsynaptic densities, and impaired hippocampal long-term potentiation and basal excitatory transmission. These findings demonstrate the causative role of SHANK1 in ASD and elucidate the underlying biological mechanism of core symptoms of ASD. We also provide a reliable model of ASD with core symptoms for future studies, such as biomarker identification and therapeutic intervention studies.

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15. Rajotte É, Grandisson M, Hamel C, Couture MM, Desmarais C, Gravel M, Chrétien-Vincent M. Inclusion of autistic students: promising modalities for supporting a school team. Disability and rehabilitation. 2022: 1-11.

PURPOSE: School staff who work with autistic students are at a high risk of exhaustion. More training and guidance are needed to enable them to respond to these students’ needs. The purpose of this study was to design and evaluate a professional development program offered by an occupational therapist to help a team of school staff facilitate the participation of autistic students and their peers. METHODS: A design-based research approach guided the development and evaluation of the modalities of the program. A case study was conducted in a school with nine school staff members using individual interviews, questionnaires, and a logbook. RESULTS: The program comprised five modalities: regular presence of the occupational therapist, a needs analysis, content focused on the features of an inclusive school, individual coaching, and team coaching. The following elements emerged as particularly helpful for the participants: frequent interactions with the occupational therapist, opportunities to collaborate, personalized support, experimentation of new practices with the occupational therapist, and concrete training content that can benefit all students. CONCLUSION: The modalities of the program appear promising to help a school team facilitate the participation of all students, including those who are autistic.Implications for rehabilitationOccupational therapists can help school teams to facilitate the participation of autistic students and their peers.A combination of individual and team coaching sessions appears promising in helping school staff adopt practice changes to make their school more inclusive.Using a multi-tiered approach can help therapists collaborate with school staff members to first find solutions that will be applicable with all of their students.

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16. Wang Q, Wang X, Xu L. Intelligent Somatosensory Interactive Activities Restore Motor Function to Children with Autism. Journal of healthcare engineering. 2022; 2022: 4516005.

So far, the biomedical community has not provided clear etiological conclusions and targeted drug treatments. Educational intervention and rehabilitation are the main ways to promote the development of autistic children’s ability and change the quality of life. This research mainly explores how intelligent somatosensory interactive activities can restore motor function to children with autism. Case studies are used to investigate the current problems of hand movement training for children with autism and the effect of somatosensory games on rehabilitation training for autism. The experience of autistic children using somatosensory games for hand movement training was analyzed. Through the collection, sorting, and analysis of data, the influence of different factors on users’ immersive experience is explored. It designs and implements the system’s somatosensory game module, including a detailed introduction to the development platform and key technologies used in the development of the somatosensory game module, and shows the functions, program flow, main features, and implementation effects of the somatosensory game. The development process of the somatosensory interaction system is introduced in detail, including model making, character control, task flow control, collision detection, interactive interface, and natural interaction methods of gesture interaction and voice interaction. This study outlines the concepts related to autism and the characteristics of children with autism. It discusses the feasibility of applying somatosensory games to the hand movement training of children with autism and analyzes the development status and application of somatosensory games in detail to lay the foundation for follow-up research. Moreover, it defines the research content of somatosensory interactive training products and clarifies the design content and direction of the product. The comfort evaluation of the somatosensory game products designed in the study reached 92.9%. This research further proves that somatosensory games have a positive effect.

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