1. Alhamoud AH, Yatimi A, Towheri SA, Sharahili HA, Hawas AM. Risperidone Abruption-Induced Tardive Dyskinesia in a Six-Year-Old Male Patient With Known Autism and Attention Deficit Hyperactivity Disorder: A Case Report. Cureus. 2022; 14(11): e31492.

As a serotonin-dopamine antagonist, risperidone is less likely than traditional antipsychotics to result in tardive dyskinesia (TD). There are not many reports of risperidone abruption-induced TD. Herein we report a new case of tardive dyskinesia induced by a sudden stop of risperidone during the treatment of an autistic patient with attention deficit hyperactivity disorder (ADHD) on risperidone. He was presented to the emergency department in King Fahd Central Hospital in Jazan, Saudi Arabia, with a history of abnormal movement in the form of unsteady gait, axial dystonia, twisting and spreading of fingers, shoulder shrugging, and protruding tongue associated with hypersalivation, with no other signs and symptoms. These symptoms started after two days of abruption. The laboratory and imaging results showed normal findings. Other causes that induced symptoms were ruled out. The diagnoses of tardive dyskinesia were presumed. Risperidone was not restarted, and clonazepam was started with a gradual increase of the dose from 0.2 mg/twice a day for five days to 0.2 mg/three times a day. The patient’s symptoms improved, and he was discharged with a follow-up with a psychiatrist and neurologist. Risperidone and other atypical second-generation antipsychotics were used to treat autism spectrum disorders. TD is more likely to be triggered by the abrupt withdrawal of risperidone. The chosen laboratory tests and imaging tests are helpful in ruling out other causes that induce similar symptoms and presumed diagnosis of TD. The conventional recommended treatment for TD was clonazepam.

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2. Ben Hassen N, Molins F, Garrote-Petisco D, Serrano M. Emotional regulation deficits in autism spectrum disorder: The role of alexithymia and interoception. Research in developmental disabilities. 2022; 132: 104378.

The aim of this study was to analyze emotional regulation, alexithymia and interoception in a group of people diagnosed with ASD (n = 27), a normative population with a technical academic training (n = 30), and another group with a humanities/health training (n = 20). Results showed significantly higher scores in alexithymia and emotional regulation problems, and lower scores in interoception in the ASD group. Also, alexithymia was found to correlate with emotional regulation, which was found to be significant in all three groups. In addition, interoception correlated negatively with alexithymia in the ASD group. Finally, the scores of the group with the technical training were closer to those of the ASD group compared to the humanities/health group.

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3. Beopoulos A, Géa M, Fasano A, Iris F. Autism spectrum disorders pathogenesis: Toward a comprehensive model based on neuroanatomic and neurodevelopment considerations. Frontiers in neuroscience. 2022; 16: 988735.

Autism spectrum disorder (ASD) involves alterations in neural connectivity affecting cortical network organization and excitation to inhibition ratio. It is characterized by an early increase in brain volume mediated by abnormal cortical overgrowth patterns and by increases in size, spine density, and neuron population in the amygdala and surrounding nuclei. Neuronal expansion is followed by a rapid decline from adolescence to middle age. Since no known neurobiological mechanism in human postnatal life is capable of generating large excesses of frontocortical neurons, this likely occurs due to a dysregulation of layer formation and layer-specific neuronal migration during key early stages of prenatal cerebral cortex development. This leads to the dysregulation of post-natal synaptic pruning and results in a huge variety of forms and degrees of signal-over-noise discrimination losses, accounting for ASD clinical heterogeneities, including autonomic nervous system abnormalities and comorbidities. We postulate that sudden changes in environmental conditions linked to serotonin/kynurenine supply to the developing fetus, throughout the critical GW7 – GW20 (Gestational Week) developmental window, are likely to promote ASD pathogenesis during fetal brain development. This appears to be driven by discrete alterations in differentiation and patterning mechanisms arising from in utero RNA editing, favoring vulnerability outcomes over plasticity outcomes. This paper attempts to provide a comprehensive model of the pathogenesis and progression of ASD neurodevelopmental disorders.

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4. Bertilsdotter Rosqvist H, Hultman L, Hallqvist J. Knowing and accepting oneself: Exploring possibilities of self-awareness among working autistic young adults. Autism : the international journal of research and practice. 2022: 13623613221137428.

When researchers and professionals talk about autism, they commonly point out problems and risks with autism or being autistic. Several interventions are based on the idea of the problems and risks of autism. Another way of talking about autism is to point out autistic people’s strengths and strategies which they use to handle barriers and problems in their lives in order to live good lives on their own terms. In this article, the researchers explore how autistic young adults formulate their own difficulties, strengths and support needs in order to get right support from support people. To be able to formulate this, autistic people need to get to know oneself and one’s own way of functioning. Autistic own self-knowledge must be central when formal support people, such as social workers, formulate support and interventions aimed at helping autistic people, in order for the support/intervention to be helpful.

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5. Bradshaw J, Schwichtenberg AJ, Iverson JM. Capturing the complexity of autism: Applying a developmental cascades framework. Child development perspectives. 2022; 16(1): 18-26.

Developmental change emerges from dynamic interactions among networks of neural activity, behavior systems, and experience-dependent processes. A developmental cascades framework captures the sequential, multilevel, cross-domain nature of human development and is ideal for demonstrating how interconnected systems have far-reaching effects in typical and atypical development. Neurodevelopmental disorders represent an intriguing application of this framework. Autism spectrum disorder (ASD) is complex and heterogeneous, with biological and behavioral features that cut across multiple developmental domains, including those that are motor, cognitive, sensory, and bioregulatory. Mapping developmental cascades in ASD can be transformational in elucidating how seemingly unrelated behaviors (e.g., those emerging at different points in development and occurring in multiple domains) are part of an interconnected neurodevelopmental pathway. In this article, we review evidence for specific developmental cascades implicated in ASD and suggest that theoretical and empirical advances in etiology and change mechanisms can be accelerated using a developmental cascades framework.

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6. Brennan PA, Dunlop AL, Croen LA, Avalos LA, Salisbury AL, Hipwell AE, Nozadi SS, Sathyanarayana S, Crum RM, Musci R, Li M, Li X, Mansolf M, O’Connor TG, Elliott AJ, Ghildayal N, Lin PD, Sprowles JLN, Stanford JB, Bendixsen C, Ozonoff S, Lester BM, Shuster CL, Huddleston KC, Posner J, Paneth N. Prenatal Antidepressant Exposures and Autism Spectrum Disorder or Traits: A Retrospective, Multi-Cohort Study. Research on child and adolescent psychopathology. 2022.

Prenatal antidepressant exposure has been associated with increased risk for neurodevelopmental disorders in childhood, including autism spectrum disorder (ASD). The current study utilized multi-cohort data from the Environmental influences on Child Health Outcomes (ECHO) program (N = 3129) to test for this association, and determine whether the association remained after adjusting for maternal prenatal depression and other potential confounders. Antidepressants and a subset of selective serotonin reuptake inhibitors (SSRIs) were examined in relation to binary (e.g., diagnostic) and continuous measures of ASD and ASD related traits (e.g., social difficulties, behavior problems) in children 1.5 to 12 years of age. Child sex was tested as an effect modifier. While prenatal antidepressant exposure was associated with ASD related traits in univariate analyses, these associations were statistically non-significant in models that adjusted for prenatal maternal depression and other maternal and child characteristics. Sex assigned at birth was not an effect modifier for the prenatal antidepressant and child ASD relationship. Overall, we found no association between prenatal antidepressant exposures and ASD diagnoses or traits. Discontinuation of antidepressants in pregnancy does not appear to be warranted on the basis of increased risk for offspring ASD.

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7. Chan CYZ, Williams K, May T, Wan WH, Brignell A. Is language ability associated with behaviors of concern in autism? A systematic review. Autism research : official journal of the International Society for Autism Research. 2022.

This review systematically synthesized evidence on the association between structural language ability and behaviors of concern (BoC) in autism. Four databases were searched for studies that included >10 autistic participants, measures of structural language (content and/or form of language) and BoC, and an analysis of their association. BoCs included self-injurious behavior (SIB), aggression, tantrums, and externalizing behavior. Methodological quality of studies were assessed using the Newcastle Ottawa Scale. Forty-five publications (n = 11,961) were included. Forty studies were cross-sectional and five were prospective cohort studies. Over 70% of the studies investigating expressive language and SIB (n = 10), aggression (n = 5), tantrums (n = 3), and externalizing behavior (n = 17) reported an inverse association, where lower expressive language ability was associated with increased BoC. Eleven out of sixteen studies of combined expressive and receptive language reported an inverse relationship with SIB or aggression. All outcomes were rated as moderate to very low certainty of evidence. This review highlights evidence showing an inverse association between expressive or combined language ability and SIB, and externalizing behavior in autism. However, further high-quality studies that use standardized, consistent measures of language and behavior and investigate longitudinal associations are needed. Early detection and support for reduced structural language difficulties have substantial potential to assist in reducing BoC.

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8. Chen L, Guo X, Hou C, Tang P, Zhang X, Chong L, Li R. The causal association between iron status and the risk of autism: A Mendelian randomization study. Frontiers in nutrition. 2022; 9: 957600.

Emerging evidence indicates a connection between serum iron levels and autism, but the underlying causal association is yet unclear. Thus, we performed two-sample Mendelian randomization (MR) analysis to evaluate the causal link between iron status on autism, using genetic instruments (p < 5E-08) strongly associated with iron status (N = 48,972), including serum iron, ferritin, transferrin levels, and transferrin saturation. Summary statistics of autism was obtained from two independent studies conducted by Psychiatric Genomics Consortium (PGC, Ncases = 5,305, Ncontrols = 5,305) and FinnGen Consortium (FC, Round six, Ncases = 344, Ncontrols = 258,095), respectively. Using the inverse-variance weighted (IVW) method, the combined results of PGC and FC demonstrated that genetically determined serum transferrin level was significantly associated with an increased risk of autism [odds ratio (OR) = 1.16, 95% CI: 1.03-1.30, p = 0.013]. There was no significant causal effect of serum iron (OR = 0.99, 95% CI: 0.72-1.37, p = 0.951), ferritin (OR = 0.88, 95% CI: 0.47-1.64, p = 0.676), and transferrin saturation (OR = 0.89, 95% CI: 0.72-1.09, p = 0.252) on autism. No obvious pleiotropy was found in this MR study. Taken together, our findings highlight that elevation of serum transferrin level might be associated with a high risk of autism, suggesting a potential role of iron deficiency in autism development. Future studies are warranted to clarify the underlying mechanism, which will pave a new path for the prevention and treatment of autism.

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9. Dawson G, Rieder AD, Johnson MH. Prediction of autism in infants: progress and challenges. The Lancet Neurology. 2022.

Autism spectrum disorder (henceforth autism) is a neurodevelopmental condition that can be reliably diagnosed in children by age 18-24 months. Prospective longitudinal studies of infants aged 1 year and younger who are later diagnosed with autism are elucidating the early developmental course of autism and identifying ways of predicting autism before diagnosis is possible. Studies that use MRI, EEG, and near-infrared spectroscopy have identified differences in brain development in infants later diagnosed with autism compared with infants without autism. Retrospective studies of infants younger than 1 year who received a later diagnosis of autism have also showed an increased prevalence of health conditions, such as sleep disorders, gastrointestinal disorders, and vision problems. Behavioural features of infants later diagnosed with autism include differences in attention, vocalisations, gestures, affect, temperament, social engagement, sensory processing, and motor abilities. Although research findings offer insight on promising screening approaches for predicting autism in infants, individual-level predictions remain a future goal. Multiple scientific challenges and ethical questions remain to be addressed to translate research on early brain-based and behavioural predictors of autism into feasible and reliable screening tools for clinical practice.

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10. Deltort N, Swendsen J, Bouvard M, Cazalets JR, Amestoy A. The enfacement illusion in autism spectrum disorder: How interpersonal multisensory stimulation influences facial recognition of the self. Frontiers in psychiatry. 2022; 13: 946066.

At its most basic level, the sense of self is built upon awareness of one’s body and the face holds special significance as the individual’s most important and distinctive physical feature. Multimodal sensory integration is pivotal to experiencing one’s own body as a coherent visual « self » representation is formed and maintained by matching felt and observed sensorimotor experiences in the mirror. While difficulties in individual facial identity recognition and in both self-referential cognition and empathy are frequently reported in individuals with autism spectrum disorder (ASD), studying the effect of multimodal sensory stimulation in this population is of relevant interest. The present study investigates for the first time the specific effect on Interpersonal Multisensory Stimulation (IMS) on face self-recognition in a sample of 30 adults with (n = 15) and without (n = 15) ASD, matched on age and sex. The results demonstrate atypical self-face recognition and absence of IMS effects (enfacement illusion) in adults with ASD compared to controls, indicating that multisensory integration failed in updating cognitive representations of one’s own face among persons with this disorder. The results are discussed in the light of other findings indicating alterations in body enfacement illusion and automatic imitation in ASD as well as in the context of the theories of procedural perception and multisensory integration alterations.

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11. Garcia JM, Odahowski CL. An urban versus rural comparison of obesity between youth with and without autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2022.

To examine obesity prevalence in youth with autism spectrum disorder (ASD) and neurotypical (NT) youth living in rural and urban areas. Data is from the 2019 National Survey of Children’s Health, a national dataset that collected information on child health and well-being. Overweight/obesity status was based on parent/caregiver report of child height and weight. Urban and rural status was determined by whether children lived in/near a city. Chi-square tests were conducted to examine differences in obesity prevalence in youth with ASD and NT youth living in rural and urban areas. Overall, 43.9% of youth with ASD were overweight/obese compared to 30.6% of NT youth (p < 0.001). There was a significantly higher proportion of NT youth living in rural areas (36.44%) who were overweight/obese compared to urban NT youth (30.35%, p = 0.002). There were no significant differences in the proportion of overweight/obese youth with ASD living in rural areas (44.02%) compared to urban areas (44.44%, p = 0.96). Urban residence reduced the odds of overweight/obese compared to rural residence among NT youth (aOR = 0.77, 95%CI = 0.66-0.90) but urban/rural residence was not a significant factor in models for ASD youth (aOR = 1.25, 95%CI = 0.63-2.48). In contrast to NT youth, there were no differences in levels of overweight/obesity in youth with ASD living in rural areas compared to urban areas. Further research on how sociodemographic factors and geographic location affect obesity in youth with ASD is warranted.

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12. Huang Y, Arnold SRC, Foley KR, Trollor JN. Experiences of Support Following Autism Diagnosis in Adulthood. Journal of autism and developmental disorders. 2022.

This study aimed to explore experiences of support after adulthood autism diagnosis. In this mixed-methods survey study of 137 adults, we found that most common formal supports received were counselling and mental health. Common unmet support needs were sensory sensitivities and accessing other services. Cost, lack of information, and fear of not being taken seriously were common barriers. Informal support was mainly helpful for self-understanding and emotions toward diagnosis. Qualitative findings included difficulties accessing formal support, need for practical quality-of-life supports and support from autistic peers and online communities. Based on these findings, future development of supportive interventions should address unmet needs, improve access, and explore the integration of autistic peer support and online support into formal services.

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13. Kiyak UE, Toper O. Teaching Science Facts to Students with Autism Spectrum Disorders via Telehealth. Journal of behavioral education. 2022: 1-11.

The interruption in the education of students with autism spectrum disorders (ASD) during the COVID-19 pandemic has necessitated telehealth services offered both to the individuals and their parents. Therefore, this study aimed to examine the effects of the simultaneous prompting procedure and observational learning in teaching science facts to middle-school students with ASD by using multiple probe designs with probe trials via telehealth. The researchers also conducted follow-up and novel adult probe sessions to assess the effects of simultaneous prompting procedure and observational learning along with the opinions of students and their mothers in terms of social validity. Results indicated that students acquired the target science facts and observational learning skills, maintained them over time, and generalized them across different people. The implication of the findings and directions for future research was additionally discussed.

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14. Knudsen LV, Sheldrick AJ, Vafaee MS, Michel TM. Diversifying autism neuroimaging research: An arterial spin labeling review. Autism : the international journal of research and practice. 2022: 13623613221137230.

Brain function and health depend on cerebral blood flow to secure the necessary delivery of oxygen and nutrients to the brain tissue. However, cerebral blood flow appears to be altered in autistic compared to non-autistic individuals, potentially suggesting this difference to be a cause and potential identification point of autism. Recent technological development enables precise and non-invasive measurement of cerebral blood flow via the magnetic resonance imaging method referred to as arterial spin labeling. However, most neuroimaging studies still prefer using the physiologically indirect measure derived from functional magnetic resonance imaging. Therefore, this review examines the use of arterial spin labeling to further investigate the neurobiology of autism. Furthermore, the review includes a comparison of results from molecular imaging and arterial spin labeling followed by a discussion concerning the future direction and potential of arterial spin labeling. We found that arterial spin labeling study results are consistent with those of molecular imaging, especially after considering the effect of age and sex. In addition, arterial spin labeling has numerous application possibilities besides the quantification of cerebral blood flow. Therefore, we encourage researchers to explore and consider the application of arterial spin labeling for future scientific studies in the quest to better understand the neurobiology of autism.

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15. Liu Y, Zhou F, Qin J, Lin Y, Li T, Zhu C, Long F, Wang X, Hu X, Zhou H. The intervention dilemma and high burden of children with autism in Guizhou province, Southwest China. Frontiers in psychiatry. 2022; 13: 929833.

BACKGROUND: Autism spectrum disorder (ASD) is a highly disabling neurodevelopmental disorder, and the burden is high. Data on the burden of ASD are limited in China, especially in the southwest. Therefore, the aims of this study were to investigate the intervention status and burden of children with ASD in Southwest China. MATERIALS AND METHODS: Families of children with ASD were recruited from hospitals, special education schools, and private rehabilitation centers; they participated in the survey and completed the questionnaire. Descriptive analysis was conducted on the questionnaire results, which included basic demographic characteristics, rehabilitation status, and burden. Multivariate analysis was used to analyze the association of basic family demographic characteristics, rehabilitation status, and costs of ASD. RESULTS: A total of 231 families of children with ASD participated in this survey, and 78.35% (181/231) of the children with ASD were male. The mean age was 4.34 ± 2.09 years. A total of 55.84% (129/231) of the children with ASD had an intellectual disability. Only 46.32% (107/231) started receiving intervention within 1 month after diagnosis. The institutions for rehabilitation interventions for children with ASD were mainly tertiary hospitals (39.39%), special education schools (29.87%) and private rehabilitation institutions (21.64%). For a total of 42.86% (99/231) of the children with ASD, the duration of the intervention was less than 10 h per week. A total of 74.89% (173/231) of the children with ASD received a rehabilitation intervention at home. A total of 66.67% of the parents were satisfied with the treatment. The monthly cost of medical intervention for the patients of children with autism was 7,225 ± 474 RMB ($1,134 ± 74), and the non-medical intervention cost was 2,133 ± 107 RMB ($334 ± 17). The annual burden of patients with autism was 86,700 ± 5,688 RMB ($13,596 ± 892). The estimated total annual burden of ASD was 5.548 billion RMB ($870 million) in Guizhou province. CONCLUSION: The results revealed that rehabilitation resources are limited and that the burden of ASD is high in Guizhou province; therefore, improving the rehabilitation status and easing the burden of children with ASD is urgent in these regions.

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16. Meadan H, Lee JD, Chung MY. Parent-Implemented Interventions via Telepractice in Autism Research: A Review of Social Validity Assessments. Current developmental disorders reports. 2022; 9(4): 213-9.

PURPOSE OF REVIEW: Parent-implemented autism interventions are considered empirically validated interventions and the use of telepractice in these interventions is reported as effective. However, little is known about the social validity assessments and outcomes of these interventions. The purpose of this review is to explore the current practices of conducting social validity assessment and reporting its outcomes within parent-implemented telepractice autism interventions. RECENT FINDINGS: The 11 reviewed studies included caregivers as participants, telepractice intervention focusing on social communication outcomes of young autistic children, and were published in a peer-reviewed journal within the past five years. SUMMARY: The researchers in the reviewed articles reported positive outcomes for parent-implemented telepractice autism interventions. Notably, however, information about social validity assessments of the interventions was limited. Researchers are encouraged to evaluate the social validity of interventions using multiple data sources and methods, and report on their findings as they relate to other types of data.

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17. Murtaza N, Cheng AA, Brown CO, Meka DP, Hong S, Uy JA, El-Hajjar J, Pipko N, Unda BK, Schwanke B, Xing S, Thiruvahindrapuram B, Engchuan W, Trost B, Deneault E, Calderon de Anda F, Doble BW, Ellis J, Anagnostou E, Bader GD, Scherer SW, Lu Y, Singh KK. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Cell reports. 2022; 41(8): 111678.

There are hundreds of risk genes associated with autism spectrum disorder (ASD), but signaling networks at the protein level remain unexplored. We use neuron-specific proximity-labeling proteomics (BioID2) to identify protein-protein interaction (PPI) networks for 41 ASD risk genes. Neuron-specific PPI networks, including synaptic transmission proteins, are disrupted by de novo missense variants. The PPI network map reveals convergent pathways, including mitochondrial/metabolic processes, Wnt signaling, and MAPK signaling. CRISPR knockout displays an association between mitochondrial activity and ASD risk genes. The PPI network shows an enrichment of 112 additional ASD risk genes and differentially expressed genes from postmortem ASD patients. Clustering of risk genes based on PPI networks identifies gene groups corresponding to clinical behavior score severity. Our data report that cell type-specific PPI networks can identify individual and convergent ASD signaling networks, provide a method to assess patient variants, and highlight biological insight into disease mechanisms and sub-cohorts of ASD.

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18. Norris JE, DeStefano LA, Schmitt LM, Pedapati EV, Erickson CA, Sweeney JA, Ethridge LE. Hemispheric Utilization of Alpha Oscillatory Dynamics as a Unique Biomarker of Neural Compensation in Females with Fragile X Syndrome. ACS chemical neuroscience. 2022.

Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a trinucleotide expansion on the FMR1 gene and characterized by intellectual disability, sensory hypersensitivity, executive function difficulties, and social anxiety. Recently, efforts to define neural biomarkers for FXS have highlighted disruptions to power in the alpha frequency band; however the dynamic mechanisms supporting these findings are poorly understood. The current study aimed to explore the temporal and hemispheric dynamics supporting alpha phenotypes in FXS and their relationship with neural phenotypes related to auditory processing using electroencephalography during an auditory evoked task. Adolescents and adults (N = 36) with FXS and age/sex matched typically developing controls (N = 40) completed an auditory chirp task. Frontal alpha power in the prestimulus period was decomposed into « bursts » using percentile thresholding, then assessed for number of bursts per second (burst count) and burst length. Data were compared across left and right hemispheres to assess lateralization of neural activity. Individuals with FXS showed more differences in alpha power compared to TDC primarily in the right hemisphere. Notably, alpha hemisphere outcomes in males with FXS were driven by the number of times they entered a dynamically relevant period of alpha (burst count) rather than length of time spent in alpha. Females with FXS showed reduced burst counts but remained in sustained high alpha states for longer periods of time. Length of time spent in alpha may reflect a modulatory or compensatory mechanism capable of recovering sensory processing abilities in females with FXS resulting in a less severe clinical presentation. Right hemisphere abnormalities may impact sensory processing differences between males and females with FXS. The relationship between alpha burst length, count, sex, and hemisphere may shed light on underlying mechanisms for previously observed alpha power abnormalities in FXS and their variation by sex.

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19. Putnam OC, Sasson N, Parish-Morris J, Harrop C. Effects of social complexity and gender on social and non-social attention in male and female autistic children: A comparison of four eye-tracking paradigms. Autism research : official journal of the International Society for Autism Research. 2022.

Eye tracking has long been used to characterize differences in social attention between autistic and non-autistic children, but recent work has shown that these patterns may vary widely according to the biological sex of the participants and the social complexity and gender-typicality of the eye tracking stimuli (e.g., barbies vs. transformers). To better understand effects of sex, social complexity, and object gender-typicality on social and non-social gaze behavior in autism, we compared the visual attention patterns of 67 autistic (ASD) and non-autistic (NA) males (M) and females (F) (ASD M = 21; ASD F = 18; NA M = 14; NA F = 14) across four eye tracking paradigms varying in social complexity and object gender-typicality. We found consistency across paradigms in terms of overall attention and attention to social stimuli, but attention to objects varied when paradigms considered gender in their stimulus design. Children attended more to gendered objects, particularly when the gender-typicality of the object matched their assigned sex. These results demonstrate that visual social attention in autism is affected by interactions between a child’s biological sex, social scene complexity, and object gender-typicality and have broad implications for the design and interpretation of eye tracking studies.

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20. Refeat MM, El Saied MM, Abdel Raouf ER. Diagnostic value of molecular approach in screening for fragile X premutation cases. Irish journal of medical science. 2022.

BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, caused by CGG-repeats expansion (> 200 repeats). Premutation alleles (PM) (55-200 CGG repeats) are associated with tremor ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and autistic problems. AIM: To screen the frequency of premutation carriers using molecular diagnostic assays, in a cohort of Egyptian males with suspected clinical features of (FXS) checking for the presence of premutation alleles. METHODS: The current study comprised 192 Egyptian male children, 92 participants presented with intellectual disability, delayed language development, autistic-like features, behavioral difficulties, anxiety, seizures, and depression compared to 100 healthy males. All cases were subjected to clinical and neuroimaging assessments, when indicated as well as molecular analysis using methylation-specific PCR (MS-PCR) and quantitative real-time PCR (qRT-PCR). RESULTS: Thirty-four premutation carriers out of 92 Egyptian males (37%) of CGG repeats (55 to 200) were illustrated with elevated FMR1 mRNA expression level (p-value < 0.001). Additionally, 2 intermediate (IM) cases (0.03%) (45-55 CGG repeats) showed poor increase in expression level (p-value = 0.02838) plus 6 full mutation (FM) patients (0.07%) with (> 200 CGG repeats) (p-value < 0.001) resulted in FMR1 gene silence. CONCLUSION: Molecular diagnostic assay including (MS-PCR) and (qRT-PCR) proved to be a sensitive and rapid screening tool for the detection of premutation cases. Furthermore, the presence of positive correlation between FMR1 mRNA expression levels with CGG repeats in premutation cases could serve as a potential diagnostic marker. Application of these diagnostic tools on larger number clinically suspected cases is recommended.

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21. Saulnier CA, Klaiman C, McQueen E. Adaptive Behavior Profiles in Autism Spectrum Disorder. Current psychiatry reports. 2022.

PURPOSE OF REVIEW: The goal of this paper is to provide an overview of profiles of adaptive behavior in autism spectrum disorder and highlight the importance of these everyday skills in optimizing self-sufficiency throughout life. RECENT FINDINGS: Research has clearly confirmed that adaptive deficits exist in ASD, particularly in social skills. These impairments are highly associated with co-occurring conditions such as executive functioning impairments, psychiatric conditions, and even psychosis. There tends to be a discrepancy between intellectual capacity and adaptive functioning, particularly in autistic individuals without cognitive and language delays, with this gap widening between childhood and adulthood. Although cognition and language skills are associated with good outcome in ASD, they are insufficient in the absence of intact adaptive behavior. There is a critical need to emphasize the importance of adaptive functioning in diagnostic evaluations and treatment/intervention programs to ensure that every autistic individual has the potential for success.

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22. Taylor H, Ingham B, Mason D, Finch T, Wilson C, Scarlett C, Moss S, Buckley C, Urbanowicz A, Raymaker D, Seiboth C, Lees R, Garland D, Osbourne M, Lennox N, Cooper SA, Nicolaidis C, Parr JR. Co-design of an NHS primary care health check for autistic adults. Autism : the international journal of research and practice. 2022: 13623613221132921.

Autistic people are on average more likely to experience poor health than people who are not autistic. Health checks have been shown to improve access to effective healthcare. This study investigated people’s views about a primary care health check for autistic adults. We held discussion groups and interviewed autistic adults, adults with intellectual disabilities, supporters and health professionals. People wanted the health check to look at a person’s physical and mental health, and how they were doing socially. They thought people should be able to share information about their needs and the reasonable adjustments they would like before the health check. They wanted healthcare services to change the way they communicate with autistic people, such as being able to book appointments online rather than by telephone. They wanted a choice in how the health check was completed, with video call or email offered as well as face-to-face appointments. People thought further training of primary care staff on autism was needed, to increase awareness of the diversity of experiences of autistic people and ways in which difficulties, such as pain, may present differently to non-autistic people. Clinicians raised questions about whether mental health and social care services could meet the additional needs that might be identified through the health check. We used this information to design an NHS primary care health check for autistic people in collaboration with autistic people, supporters and health professionals.

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23. Vashisth S, Chahrour MH. Genomic strategies to untangle the etiology of autism: A primer. Autism research : official journal of the International Society for Autism Research. 2022.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in communication, diminished social skills, and restrictive and repetitive behaviors and interests. ASD affects approximately 2.3% of the population and is highly heterogeneous, both phenotypically and genetically. As genomic technologies advance, our understanding of the genetic architecture of ASD is becoming clearer, encompassing spontaneous and inherited alterations throughout the genome, and delineating alterations that are either rare or common in the population. This commentary provides an overview of the genomic strategies and resulting major findings of genetic alterations associated with ASD.

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24. Wall CA, Shic F, Varanasi S, Roberts JE. Distinct social attention profiles in preschoolers with autism contrasted to fragile X syndrome. Autism research : official journal of the International Society for Autism Research. 2022.

Social attention is a critical skill for learning and development. Social attention difficulties are present in both non-syndromic autism spectrum disorder (nsASD) and fragile X syndrome (FXS), and our understanding of these difficulties is complicated by heterogeneity in both disorders, including co-occurring diagnoses like intellectual disability and social anxiety. Existing research largely utilizes a single index of social attention and rarely includes children with intellectual impairment or uses a cross-syndrome approach. This study investigated whether multi-trait social attention profiles including naturalistic initial eye contact, facial attention, and social scene attention differ in preschool children with nsASD and FXS matched on developmental ability (DQ) and contrasted to neurotypical (NT) controls. The relationship between DQ, ASD severity, and social anxiety and social attention profiles was also examined. Initial eye contact related to social scene attention, implicating that naturalistic social attention is consistent with responses during experimental conditions. Reduced eye contact and lower social scene attention characterized nsASD and FXS. Children with nsASD displayed less facial attention than FXS and NT children, who did not differ. Lower DQ and elevated ASD severity associated with decreased eye contact in nsASD and FXS, and lower DQ was associated with lower social scene attention in FXS. Sex, social anxiety, and age were not associated with social attention. These findings suggest social attention profiles of children with nsASD are highly similar to, yet distinct from, children with FXS. Children with nsASD may present with a global social attention deficit whereas FXS profiles may reflect context-dependent social avoidance.

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25. Wichers RH, van der Wouw LC, Brouwer ME, Lok A, Bockting CLH. Psychotherapy for co-occurring symptoms of depression, anxiety and obsessive-compulsive disorder in children and adults with autism spectrum disorder: a systematic review and meta-analysis. Psychological medicine. 2022: 1-17.

Individuals with autism spectrum disorder (ASD) struggle accessing psychotherapy services for comorbidities, including anxiety-, depressive- and obsessive-compulsive disorders (OCD). Apart from cognitive behavioural therapy (CBT) for anxiety in children with ASD, it is unclear whether psychotherapy is effective for these comorbid disorders.We therefore systematically reviewed any form of psychotherapy for co-occurring symptoms of anxiety, depression and OCD in individuals with ASD.Database searches were conducted until February 2022 using EMBASE, PsycINFO and PubMed. Randomised controlled trials (RCT) were included investigating any form of psychotherapy for symptoms of anxiety, depression and OCD in individuals with ASD. Summary data were extracted, and random-effects meta-analyses were conducted.For CBT 26 RCTs (n = 1251), and for social skills training (SST) 11 RCTs (n = 475) met criteria for inclusion. Pooled effect sizes indicated a moderate reduction of anxiety in children (g = -0.70) and a small reduction of depressive symptoms in adults (g = -0.39). For SST overall effect sizes were small for reduction of anxiety in children (g = -0.35) and adults (g = -0.34) and moderate for reduction of depressive symptoms in children (g = -0.50). Risk of bias was high in 18, moderate in 16 and low in 3 RCTs.Our results provide new and age-specific evidence that: (1) CBT is effective for reducing anxiety in children and to a lesser extent for depressive symptoms in adults with ASD; and (2) social skills interventions are effective for reducing anxiety in children and adults and for depressive symptoms in children with ASD.

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26. Xia C, Zhang D, Li K, Li H, Chen J, Min W, Han J. Dynamic Viewing Pattern Analysis: Towards Large-Scale Screening of Children With ASD in Remote Areas. IEEE transactions on bio-medical engineering. 2022; Pp.

OBJECTIVE: Autism spectrum disorder (ASD) affects nearly 1 in 44 children younger than 8 years old in the United States, and the situation may be even worse in remote areas of the world. However, it is difficult to utilize existing approaches to screen patients with ASD in remote areas due to the lack of professionals and high-tech instruments. To address this problem, we develop a fast and accurate scalable method for screening children with ASD. METHODS: A deep weakly supervised artificial intelligence model is proposed for ASD screening based on the dynamic viewing patterns (DVP) over viewing time and visual stimuli. In training, we utilized a long short-term memory (LSTM) network to learn the mapping between the autoencoder-based encoded dynamic patterns and the labels. In testing, we fed the encoded DVP of each undiagnosed child into the trained network and predicted the diagnosis category based on the score on all stimuli. RESULTS: Based on the multi-center evaluation on 165 subjects (95 typically developing children and 70 children with ASD) aged 3-6 years from different areas of China, our method achieves an average recognition accuracy of 96.73% (sensitivity 96.85% and specificity 96.63%). CONCLUSION: The DVP is a discriminating attribute to identify the atypical performance of ASD. The DVP-based model is an effective platform for enhancing auxiliary ASD screening accuracy. SIGNIFICANCE: We explored and validated the importance of dynamic information on between-group differences and classification. Additionally, the evaluation results suggest that the proposed model can provide an objective and accessible tool for scalable ASD screening applications.

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27. Xiong T, Kaltenbach E, Yakovenko I, Lebsack J, McGrath PJ. How to measure barriers in accessing mental healthcare? Psychometric evaluation of a screening tool in parents of children with intellectual and developmental disabilities. BMC health services research. 2022; 22(1): 1383.

Caring for children with intellectual and developmental disabilities (IDD) can cause an enormous physical and emotional burden, and therefore these parents have an elevated risk to experience mental health problems. The characteristics of current healthcare systems and parents’ responsibilities to care for their children seem to impede their access to mental healthcare. There is so far a lack of instruments to screen for such obstacles. The aim of this study was to develop and validate a scale for measuring barriers to accessing mental healthcare. The Parental Healthcare Barriers Scale (PHBS) was developed on the basis of an extensive literature research, input and discussion from experts and parents with lived experience. A cross-sectional survey was used to collect data from 456 parents of children with IDD. Physical health, mental health, social support, and parenting were measured for concurrent and discriminant validity of the PHBS. The PHBS scale revealed acceptable to good reliability and validity. It consists of four subscales (i.e., support accessibility, personal belief, emotional readiness, and resource availability). The PHBS found parents prioritized their children’s treatments over their own mental health challenges (93.4%), did not have enough time (90.4%), and had financial concerns (85.8%). Parents in rural and remote areas had more limited resources. Findings from our study suggest increasing financial support for the parents seeking mental health services, introducing evidence-based treatments, increasing the availability of healthcare services for parents, and adjusting current services to their needs.

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28. Xu K, Yan J, Ma C, Chang X, Chien YF. Atypical patterns of tone production in tone-language-speaking children with autism. Frontiers in psychology. 2022; 13: 1023205.

Speakers with autism spectrum disorder (ASD) are found to exhibit atypical pitch patterns in speech production. However, little is known about the production of lexical tones (T1, T2, T3, T4) as well as neutral tones (T1N, T2N, T3N, T4N) by tone-language speakers with ASD. Thus, this study investigated the height and shape of tones produced by Mandarin-speaking children with ASD and their age-matched typically developing (TD) peers. A pronunciation experiment was conducted in which the participants were asked to produce reduplicated nouns. The findings from the acoustic analyses showed that although ASD children generally produced both lexical tones and neutral tones with distinct tonal contours, there were significant differences between the ASD and TD groups for tone height and shape for T1/T1N, T3/T3N, and T4/T4N. However, we did not find any difference in T2/T2N. These data implied that the atypical acoustic pattern in the ASD group could be partially due to the suppression of the F0 range. Moreover, we found that ASD children tended to produce more errors for T2/T2N, T3/T3N than for T1/T1N, T4/T4N. The pattern of tone errors could be explained by the acquisition principle of pitch, similarities among different tones, and tone sandhi. We thus concluded that deficits in pitch processing could be responsible for the atypical tone pattern of ASD children, and speculated that the atypical tonal contours might also be due to imitation deficits. The present findings may eventually help enhance the comprehensive understanding of the representation of atypical pitch patterns in ASD across languages.

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29. Yang X, Li J, Zhou Y, Zhang N, Liu J. Effect of stigma maydis polysaccharide on the gut microbiota and transcriptome of VPA induced autism model rats. Frontiers in microbiology. 2022; 13: 1009502.

Stigma maydis polysaccharide (SMPS) is a plant polysaccharide that participates in immune regulation and gastrointestinal motility. Autism spectrum disorder (ASD) refers to a group of neurodevelopmental disorders, and ASD patients often present intestinal microflora imbalance problems; however, there is no effective treatment method. This study explores the effect of SMPS intervention on the gut microbiota in autism model rats as well as the potential action pathways. Female Wistar rats were intraperitoneally injected with sodium valproic acid (VPA) or normal saline at embryonic day 12.5 to establish an autism model or normal control in their offspring. The offspring prenatally exposed to VPA were randomly assigned to the VPA and the SMPS groups. The SMPS group was administered SMPS from E0.5 to postnatal day (PND) 21. We performed 16S rRNA and transcriptomics analyses to reveal the gut microbiota (GM) and differentially expressed genes in the autism model rats in response to SMPS intervention. SMPS intervention significantly improved the diversity and structure of the GM in autism model rats compared with the VPA rats. Moreover, the relative abundance of Prevotellaceae and Lachnospiraceae_NK4A136_group was increased after SMPS intervention. Transcriptome sequencing showed that 496 differentially expressed genes (DEGs) were identified after SMPS administration compared with the VPA group. Meanwhile, gene ontology (GO) enrichment analysis of DEGs was showed that the SMPS group had significant 653 GO terms. SMPS intervention had a major influence on oxidative phosphorylation, retrograde endocannabinoid signaling, thermogenesis, ribosome, protein digestion and absorption, renin-angiotensin system, calcium signaling pathway, glycosphingolipid biosynthesis-ganglio series, and propanoate metabolism pathways. Overall, this study suggests that SMPS interventions in early life may have an impact on gut microbiota, and then affect the transcriptomics levels of the hippocampal tissue in the VPA-induced autism model rats. It provides scientific evidence for the role of the microbe-gut-brain axis in ASD research.

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30. Zhang J, Zhang H. Effects of non-invasive neurostimulation on autism spectrum disorder: A systematic review. Frontiers in psychiatry. 2022; 13: 989905.

Non-invasive neurostimulation techniques (NIBS) have shown benefits in psychiatric conditions. While in ASD patients, no guideline has so-far been recommended on these techniques due to a lack of high-quality synthetic evidence. Here, a comprehensive search from database inception onward was conducted in PubMed, EMBASE, and Cochrane library. Sham-controlled studies assessing the effects of NIBS in ASD patients were identified. After screening, twenty-two studies were included. A total of 552 patients were involved, and the sample size ranged from 5 to 78 patients. Although an iteration from exploratory attempts to more strictly designed trials has been seen to evaluate the efficacy of NIBS on ASD, further trials should also be needed to enable the clinicians and researchers to reach any consensus. SYSTEMATIC REVIEW REGISTRATION: [https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021292434], identifier [CRD42021292434].

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31. Zhou Y, Gao J. Why not try to predict autism spectrum disorder with crucial biomarkers in cuproptosis signaling pathway?. Frontiers in psychiatry. 2022; 13: 1037503.

The exact pathogenesis of autism spectrum disorder (ASD) is still unclear, yet some potential mechanisms may not have been evaluated before. Cuproptosis is a novel form of regulated cell death reported this year, and no study has reported the relationship between ASD and cuproptosis. This study aimed to identify ASD in suspected patients early using machine learning models based on biomarkers of the cuproptosis pathway. We collected gene expression profiles from brain samples from ASD model mice and blood samples from humans with ASD, selected crucial genes in the cuproptosis signaling pathway, and then analysed these genes with different machine learning models. The accuracy, sensitivity, specificity, and areas under the receiver operating characteristic curves of the machine learning models were estimated in the training, internal validation, and external validation cohorts. Differences between models were determined with Bonferroni’s test. The results of screening with the Boruta algorithm showed that FDX1, DLAT, LIAS, and ATP7B were crucial genes in the cuproptosis signaling pathway for ASD. All selected genes and corresponding proteins were also expressed in the human brain. The k-nearest neighbor, support vector machine and random forest models could identify approximately 72% of patients with ASD. The artificial neural network (ANN) model was the most suitable for the present data because the accuracy, sensitivity, and specificity were 0.90, 1.00, and 0.80, respectively, in the external validation cohort. Thus, we first report the prediction of ASD in suspected patients with machine learning methods based on crucial biomarkers in the cuproptosis signaling pathway, and these findings may contribute to investigations of the potential pathogenesis and early identification of ASD.

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