1. Arnold SR, Bruce G, Weise J, Mills CJ, Trollor JN, Coxon K. Barriers to healthcare for Australian autistic adults. Autism : the international journal of research and practice. 2023: 13623613231168444.

This study looked at how Australian autistic and non-autistic adults experience barriers to healthcare. We asked autistic and non-autistic adults to complete the Barriers to Healthcare Checklist Short-Form (BHC). We analysed data from 263 autistic adults and 70 non-autistic adults. We found that autistic adults experienced more barriers to healthcare than non-autistic adults. Gender diversity, feeling more anxious, having greater disability and feeling unsatisfied with social support contributed to barriers to healthcare in autistic participants. We recommend interventions such as developing and implementing a national action plan, similar to the National Roadmap for Improving the Health of People with Intellectual Disability (2021) to reduce barriers and address unmet healthcare needs of Australian autistic adults. We also recommend working with autistic adults to develop new policies and strategies, implementing environmental adaptations to health care facilities, and increasing Autism education opportunities for health professionals to address gaps in knowledge.

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2. Bai C, Wang Y, Zhang Y, Wang X, Chen Z, Yu W, Zhang H, Li X, Zhu K, Wang Y, Zhang T. Abnormal gray matter volume and functional connectivity patterns in social cognition-related brain regions of young children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2023.

Autism spectrum disorder (ASD) is associated with abnormal brain imaging findings, but descriptions thereof are inconsistent. The aim of the present study was to investigate brain abnormalities in young children with ASD using a combination of structural and functional brain magnetic resonance imaging (MRI). Structural and resting-state functional MRI was performed in 67 children with ASD (aged 2-7 years) and 39 age-matched typically developing (TD) controls. Voxel-based morphometry was used to evaluate differences in brain structure between groups. Topologic parameters of the functional brain network were compared by graph theoretic analysis and network connectomes were compared with network-based statistics. A support vector machine (SVM) was used to discriminate between ASD and TD groups. Results demonstrated young children with ASD had increased gray matter volumes (GMVs) in the right medial superior frontal gyrus and left fusiform gyrus compared with the TD group. The ASD group had altered subnetwork connectivity in frontal and temporal lobes and other social cognition-related brain regions. Functional connectivity in the left superior temporal gyrus and left temporal pole of the middle temporal gyrus was positively correlated with adaptability and language developmental quotient (DQ) in children with ASD. The combination of the brain structural and functional features had 86.2% accuracy in discriminating between ASD and TD. The present study shows that young children with ASD have altered GMVs and functional networks in social cognition-related brain regions, which are potential neuroimaging biomarkers for ASD.

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3. Dash MJ, Hamdani Y, Laliberte Rudman D, Teachman G. Representations of parenting autistic children: A critical interpretive synthesis. Scandinavian journal of occupational therapy. 2023: 1-15.

BACKGROUND: Many taken-for-granted expectations for parents in Western societies are situated in normative assumptions. Social constructions of ‘good’ parenting may be a poor fit for parents whose children’s development varies from a so-called typical trajectory. Normative assumptions about parenting can have harmful effects for parents of autistic children. AIMS/OBJECTIVES: This paper examines representations of parenting autistic children in contemporary research and considers the potential effects of these representations on these parents’ occupational possibilities. METHODS: Informed by a critical occupational perspective, a critical interpretive synthesis (CIS) of 27 research articles focussed on parenting autistic children was conducted. FINDINGS: Three major discursive threads were identified regarding how parents of autistic children are represented in research: gendered assumptions, caregiving as all-consuming, and disruption of normative expectations of parenting. CONCLUSIONS AND SIGNIFICANCE: Normative discourses about parenting were (re)produced within this body of research which may perpetuate limitations in the occupational possibilities of parents of autistic children. Critical investigation into contemporary research is necessary to challenge taken for granted expectations for parents of children with autism, to mitigate harmful effects for parents, to inform transformative OT practices and policies, and to promote equitable service provision.

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4. Ellis N, Yi YJ. Systematic Review on Environmental Design for Adaptive and Problem Behaviors of People With Intellectual and Developmental Disabilities. Herd. 2023: 19375867231173393.

OBJECTIVES: The presented systematic review explores the empirical studies regarding environmental design strategies that support adaptive behaviors while improving problem behaviors of people with intellectual and developmental disabilities (IDD). BACKGROUND: People with IDD perceive and interact with their environment differently from people without disabilities. Design research has not always considered these differences, and environmental design solutions are not commonly found. METHODS: The review process followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocols. The study reports the findings from the systematic review of 32 peer-reviewed studies published in EBSCO, ERIC, ProQuest, PsycINFO, MEDLINE CINAHL, Consumer Health Complete (EBSCOhost), and Psychology and Behavioral Sciences Collection between 1990 and 2020. In addition, quality assessment tools appraised the study’s quality. RESULTS: The review identified 26 design strategies. Five themes qualitatively organized these environmental attributes: coherence, affordance, control, stimulation, and restoration. CONCLUSION: The evidence indicates that adequately designed physical environments can support the adaptive behaviors of people with IDD while alleviating behavioral problems. Design features not supported by strong empirical evidence should be further addressed in future studies.

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5. Konstantin GE, Nordgaard J, Henriksen MG. Methodological issues in social cognition research in autism spectrum disorder and schizophrenia spectrum disorder: a systematic review. Psychological medicine. 2023: 1-12.

Recent systematic reviews and meta-analyses conclude that similar social cognitive impairments are found in autism spectrum disorder (ASD) and schizophrenia spectrum disorder (SSD). While methodological issues have been mentioned as a limitation, no study has yet explored the magnitude of methodological heterogeneity across these studies and its potential impact for their conclusion. The purpose of this study was to systematically review studies comparing social cognitive impairments in ASD and SSD with a focus on methodology. Following the PRISMA guidelines, we searched all publications on PubMed, PsycINFO, and Embase. Of the 765 studies identified in our data base searches, 21 cross-sectional studies were included in the review. We found significant methodological heterogeneity across the studies. In the 21 studies, a total of 37 different measures of social cognition were used, 25 of which were only used in 1 study. Across studies, the same measure was often said to be assessing different constructs of social cognition – a confusion that seems to reflect the ambiguous definitions of what these measures test in the studies that introduced them. Moreover, inadequate differential diagnostic assessment of ASD samples was found in 81% of the studies, and sample characteristics were markedly varied. The ASD and SSD groups were also often unmatched in terms of medication usage and substance use disorder history. Future studies must address these methodological issues before a definite conclusion can be drawn about the potential similarity of social cognitive impairments in ASD and SSD.

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6. Lee SC, Huang CY, Fu IN, Chen KL. Interpreting the results of explicit and applied theory of mind collectively in autistic children: A solution from Rasch analysis. Autism : the international journal of research and practice. 2023: 13623613231170698.

Theory of mind is an ability to infer others’ mental states, which is a foundation for generating appropriate social responses. Theory of mind can be conceptually divided into two related but distinguishable constructs: explicit theory of mind (conceptual knowledge/information about others’ mental states) and applied theory of mind (the ability to use theory of mind skills in real-life contexts). Although these two theory of mind scores can be described by the percentages of children in the early, basic, and advanced developmental stages, the resulting information may not be sufficient to determine the corresponding relationships between these two theory of mind constructs or identify children with mismatched theory of mind abilities (e.g. children who have difficulty in effectively applying their theory of mind knowledge in real-life contexts). To resolve these limitations, methods for simultaneously interpreting the relationships between the two theory of mind scores are proposed. Based on the findings, each applied theory of mind score can reflect multiple scores of explicit theory of mind. In particular, the results do not take measurement error into consideration, which would make them more ambiguous. Therefore, the scores of applied theory of mind should be interpreted carefully, given that children who have the same applied theory of mind score may actually have high or low explicit theory of mind. Regarding the method for joint interpretation, cutoff scores were selected to identify children who have mismatched theory of mind abilities (high explicit theory of mind with low applied theory of mind or low explicit theory of mind with high applied theory of mind) and determine the priority for interventions.

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7. Lyu Y, Song F, Zhang K, Gao M, Ma J, Wang D, Wan Y, Liu Y, Gai Z. [Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2023; 40(5): 543-6.

OBJECTIVE: To explore the clinical and genetic characteristics of two children with developmental delay. METHODS: Two children who had presented at the Children’s Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children. RESULTS: Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously. CONCLUSION: The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.

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8. McGraw SA, Smith-Hicks C, Nutter J, Henne JC, Abler V. Meaningful Improvements in Rett Syndrome: A Qualitative Study of Caregivers. Journal of child neurology. 2023: 8830738231172066.

BACKGROUND: Rett syndrome is a rare neurodevelopmental disorder primarily affecting females. This syndrome is associated with many comorbidities and impairments related to motor function, breathing, sleep, expressive language, and repetitive hand movements. The Rett Syndrome Behaviour Questionnaire (RSBQ) is one measure used to assess changes in Rett syndrome-related manifestations or core symptoms. Little is known about how caregivers think about meaningful changes in the items that make up the RSBQ scale. METHODS: This qualitative study explored how caregivers of individuals with Rett syndrome viewed changes in the symptoms covered in the RSBQ. We conducted semistructured interviews with 40 caregivers and employed thematic analysis, identifying themes using an iterative process. RESULTS: Two factors characterized caregivers’ thoughts about meaningful changes in Rett syndrome manifestations. First, general features of these symptoms rendered them bothersome: the extent of bother compared to other symptoms, if or how they prevented desirable behaviors and their temporal qualities. Second, caregivers evaluated the meaning of improvements by considering the decrease in bother and the potential benefits of change. Improvements had social and psychological consequences for individuals with Rett syndrome and caregivers. In addition, implications for health, fine and gross motor skills, and communication were also substantial.

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9. Nguyen JD, Shih MC, Nguyen SA, Liu YC, Mukerji SS. The Effect of Developmental Delay and Autism Spectrum Disorder on External Auditory Canal Foreign Body Extraction. Pediatric emergency care. 2023.

OBJECTIVES: To determine the effect of developmental delay (DD) and autism spectrum disorder (ASD) on pediatric external auditory canal foreign body (EAC FB) retrieval outcomes. METHODS: A retrospective chart review of children presenting with EAC FB at a tertiary children’s hospital was performed between January 2018 and December 2019. Charts were reviewed for demographics, presence of otalgia, complications, number of EAC FB episodes, indications for operating room removal, DD, and ASD status. RESULTS: A total of 1467 patients underwent EAC FB removal. One hundred thirty-seven children (9.3%) had DD, and, of those with DD, 63 (46%) had ASD. Children with DD were 1.76 years older compared with children with non-DD (NDD) (P < 0.0001) at the time of presentation, whereas children with ASD were 1.45 years older than children with NDD (P = 0.0023). Children with DD and ASD were more likely to require removal of FB in the operating room (OR) compared with the NDD group (36.5% vs 16.7%, P = 0.0001). This was not true for children with DD without ASD. Patients with DD reported significantly less otalgia when compared with NDD patients (26.3% vs 37.4%, P = 0.0097). A similar trend, although not statistically significant, was observed when comparing children with ASD with NDD patients. The NDD patients (1.1) had fewer EAC FB episodes than patients with DD (1.6, P < 0.0001) and ASD (1.8, P < 0.0016). Hazard ratios for multiple episodes of FB were 4.5 (95% confidence interval, 2.9-6.8) for DD, and 5.6 for ASD (95% confidence interval, 3.2-9.9). The complication rate for all groups was low. CONCLUSIONS: Due to the different ways that children with DD and ASD present compared with NDD children, physicians should be vigilant when evaluating symptoms and conducting physical examinations for EAC FB in those patients. A lower threshold for referral to otolaryngologists may result in more favorable outcomes.

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10. Pavlov A, Hodnett JM, Booth C, Wigton S, Bernstein A, Lomas Mevers J, Scheithauer M. COVID-19 Vaccination Clinic for Individuals With Autism Spectrum Disorder and Related Disorders: Feasibility and Acceptability. Journal of the American Psychiatric Nurses Association. 2023: 10783903231172997.

INTRODUCTION: Autistic individuals often have comorbid medical conditions, which can increase the likelihood of being severely affected by COVID-19. The best prevention for this is vaccination. However, some autistic individuals engage in behaviors that might create a barrier to successful vaccination. AIMS: We describe the development and acceptability of a clinic specializing in the administration of COVID-19 vaccines for individuals diagnosed with autism spectrum disorder (ASD) who exhibit challenging behavior. METHOD: The clinic utilized behavioral antecedent strategies and contingencies to increase compliance with the vaccine and decrease distress associated with the procedure. RESULTS: We achieved a 100% success rate with vaccine administration and caregivers reported high satisfaction with the clinic. CONCLUSIONS: The present vaccine clinic is adaptable to various settings and patients and was well-received overall by caregivers. Replication in different geographic regions may be beneficial when resources allow for this type of clinic.

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11. Pedapati EV, Sweeney JA, Schmitt LM, Ethridge LE, Miyakoshi M, Liu R, Smith E, Shaffer RC, Wu SW, Gilbert DL, Horn PS, Erickson C. Empirical Frequency Bound Derivation Reveals Prominent Mid-Frontal Alpha Associated with Neurosensory Dysfunction in Fragile X Syndrome. Research square. 2023.

The FMR1 gene is inactive in Fragile X syndrome (FXS), resulting in low levels of FMRP and consequent neurochemical, synaptic, and local circuit neurophysiological alterations in the fmr1 KO mouse. In FXS patients, electrophysiological studies have demonstrated a marked reduction in global alpha activity and regional increases in gamma oscillations associated with intellectual disability and sensory hypersensitivity. Since alpha activity is associated with a thalamocortical function with widely distributed modulatory effects on neocortical excitability, insight into alpha physiology may provide insight into systems-level disease mechanisms. Herein, we took a data-driven approach to clarify the temporal and spatial properties of alpha and theta activity in participants with FXS. High-resolution resting-state EEG data were collected from participants affected by FXS (n = 65) and matched controls (n = 70). We used a multivariate technique to empirically classify neural oscillatory bands based on their coherent spatiotemporal patterns. Participants with FXS demonstrated: 1) redistribution of lower-frequency boundaries indicating a « slower » dominant alpha rhythm, 2) an anteriorization of alpha frequency activity, and 3) a correlation of increased individualized alpha power measurements with auditory neurosensory dysfunction. These findings suggest an important role for alterations in thalamocortical physiology for the well-established neocortical hyper-excitability in FXS and, thus, a role for neural systems level disruption to cortical hyperexcitability that has been studied primarily at the local circuit level in animal models.

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12. Sappok T, Bayer M, Tarasova D, Kaiser H, Bergmann T. [Autism Spectrum Disorders in Adulthood: Empirical Findings on Comorbidities, Differential Diagnoses, and the Clinical Utility of the AQ]. Psychiatrische Praxis. 2023.

AUTISM: spectrum disorders (ASD) often remain undiagnosed until adulthood. The aim of this study is to report differential diagnoses (DDX) and comorbidities of adults without intellectual impairment suspected of having an ASD and to test the self-assessment questionnaire Autism Quotient (AQ) for its suitability for screening. METHODS: DDX and comorbidities were recorded with standardized scales in an autism outpatient clinic in 106 individuals. The AQ was tested against the expert judgment of an interdisciplinary case conference using ROC analysis. RESULTS: Affective disorders were common in both groups (48%); other DDX were phobias (33%) and personality disorders (22%). The AQ showed an AUC of 0,527 with sensitivity/specificity of 70%/35%. CONCLUSIONS: Adults suspected of having autism are highly burdened by DDX and comorbidities. An interdisciplinary diagnostic procedure based on standardized scales is useful, whereas the AQ hardly differentiates between persons with and without ASD.

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13. Smith AM, Johnson AH, Bashore L. Exploration of sleep disturbances in children and adolescents with and without autism in a paediatric sample referred for polysomnography. Journal of paediatrics and child health. 2023.

AIMS: The purpose of the study was to increase the body of knowledge related to sleep in children with autism. The specific aims were to (i) identify the subgroup of children with autism, ages 3-17 years, referred for polysomnography and (ii) describe types and frequency of clinical encounters for sleep problems in a sample of children ages 3-17 with and without the diagnosis of autism. METHODS: The authors performed a secondary data analysis of the de-identified Nationwide Children’s Hospital Sleep DataBank, a collection of encounters with children referred for polysomnography. The data were filtered for ages 3-17 years at the time of the participant’s first sleep study, and further filtered for the presence of an autism diagnosis. RESULTS: In the sample, there were 2838 unique participants (M = 10.5 years) with a total of 172 167 encounters between 2017 and 2019. Of these, 198 (7%) were diagnosed with Autism Spectrum Disorder, Asperger’s Syndrome, or Pervasive Developmental Disorder. Among all participants, the most common sleep problems were apnea, snoring, non-specified sleep disorders (including restless sleeper), circadian rhythm disorder (CRD), and insomnia. The subgroup of patients diagnosed with autism was noted to have higher frequency of several types of sleep problems, especially restless sleep, CRD and insomnia, compared to those without an autism diagnosis. CONCLUSIONS: Findings elucidate the increased presence of sleep problems in paediatric patients with autism, and the need for purposeful sleep evaluation and research given the potential impact on daytime function for these individuals and their families.

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14. Tsai SJ, Chang WH, Cheng CM, Liang CS, Bai YM, Hsu JW, Huang KL, Su TP, Chen TJ, Chen MH. All-cause mortality and suicide mortality in autistic individuals: An entire population longitudinal study in Taiwan. Autism : the international journal of research and practice. 2023: 13623613231167287.

Our study was the first population-based study in an Asian country to investigate the mortality rates among autistic individuals. Among the entire Taiwanese population (N = 29,253,529), between 2003 and 2017, 45,398 autistic individuals were identified and 1:4 age-/sex-matched to 181,592 non-autistic individuals. We found that autistic individuals had increased risks of all-cause mortality, natural-cause mortality, and suicide mortality compared with non-autistic individuals. Furthermore, autistic males were more likely to die by suicide, and autistic females were more likely to die of accident compared with the non-autistic individuals.

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15. Tse AC, Liu VH, Lee PH, Anderson DI, Lakes KD. The relationships among executive functions, self-regulation, and physical exercise in children with autism spectrum disorder. Autism : the international journal of research and practice. 2023: 13623613231168944.

This study examined the impacts of two types of physical exercises (two-wheel cycling vs stationary cycling) on cognition and self-regulation among 64 children with autism spectrum disorder. It also explored the role of social, emotional, and physical needs of an individual in the relationship between exercise, cognition, and self-regulation. Results showed that participants in the two-wheel cycling group showed significant improvements in their cognition and that the two exercise groups also enhanced their self-regulation. Moreover, this study also revealed that the social need is crucial in mediating the relationship between exercise and self-regulation. This study strengthens the notion that cognitively engaging exercise is more beneficial than the non-cognitively engaging exercise in enhancing cognition in children with autism spectrum disorder.

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16. Zahedi E, Sadr SS, Sanaeierad A, Roghani M. Chronic acetyl-L-carnitine treatment alleviates behavioral deficits and neuroinflammation through enhancing microbiota derived-SCFA in valproate model of autism. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 2023; 163: 114848.

Autism spectrum disorder is characterized by a variety of cellular and molecular abnormalities which leads to autism-associated behaviors. Besides behavioral defects, these individuals also suffer from various associated disorders such as gastrointestinal deficit, altered gut microbiota composition and their metabolite. This study examined the effect of ALC on microbiota SCFA production and its effects on brain inflammation in VPA autism model. After prenatal exposure to valproate (600 mg/kg, i.p.) on embryonic day 12.5, followed by ALC treatment (100 mg/kg during postnatal days 23-51, p.o.), ASD-like behaviors, SCFAs amount in feces, intestine integrity (Occludin and ZO-1 tight junction proteins), systemic and brain inflammation (TNF-α and IL-1β) were assessed. Then, Golgi-Cox staining and Western blot for Iba1 protein were utilized to identify the changes in microglia profile in cerebral cortex. In the VPA model, we found that induction of autism was associated with demoted levels of SCFAs in feces and disintegration of intestine tissue which led to elevated level of TNF-α in the plasma. Further, we characterized an increased number of microglia in our histology evaluation and Iba1 protein in cerebral cortex. We also observed elevated level of TNF-α and IL-1β in the cerebral cortex of VPA rat. All these abnormalities were significantly alleviated by ALC treatment. Overall, our findings suggest that alleviation of behavioral abnormalities by ALC therapy in the VPA model of autism is associated with an improvement in the gut microbiota SCFAs, intestinal barrier and recovery of microglia and inflammation in the brain.

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17. Zakirova-Engstrand R, Yakubova G. A scoping review of autism research conducted in Central Asia: Knowledge gaps and research priorities. Autism : the international journal of research and practice. 2023: 13623613231170553.

Very little is known about the status of autism research in Central Asia. Through the library databases, we identified and reviewed 11 scientific studies conducted with autistic people and their families in five Central Asian countries-Kazakhstan, Kyrgyzstan, Tajikistan, Turkmenistan, and Uzbekistan. Of the 11 studies, 10 were conducted in Kazakhstan and 1 in Uzbekistan. Within these limited number of research studies, different topics such as diagnosis, risk factors of autism, biology, and various service and intervention areas were addressed. We identified several knowledge gaps and research priorities to address the needs of autistic people, their families, and professionals in Central Asia.

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