1. Alhujaili N, Platt E, Khalid-Khan S, Groll D. Comparison of Social Media Use Among Adolescents with Autism Spectrum Disorder and Non-ASD Adolescents. Adolescent health, medicine and therapeutics. 2022; 13: 15-21.

BACKGROUND: It has been well documented that social media use among adolescents is rising. However, most research has focused on social media use among typically developing adolescents and less on its use among adolescents with autism spectrum disorder (ASD). The goal of this study was to compare the time spent as well as to identify the purpose of social media use in adolescents with ASD compared to non-ASD adolescents. METHODS: This was a cross-sectional study of adolescents between ages 13-18 who were attending a hospital-based child and adolescents psychiatry clinic. Participants completed a self-report 18-item questionnaire to assess the pattern and reasons for using social media sites. The sample size was 26 for ASD and 24 for the non-ASD group. RESULTS: We found that the time spent on social media among adolescents with ASD was comparable to those without ASD diagnosis. However, participants with ASD differed from their non-ASD counterparts in both preferred social media sites as well as reasons for use. The most favourable social media site for ASD adolescents was YouTube. In contrast, the preferred social media site among adolescents without ASD was Snapchat. About 92.3% of participants without ASD reported using social media sites for primarily social interactions. In contrast, 59.1% of participants with ASD reported entertainment purposes as their primary reason for choosing a social media site. CONCLUSION: Although the current study is based on a small sample of participants, the findings suggest that the pattern of usage and reasons for using social media differ significantly between the two groups. There is, therefore, a definite need for further research with a larger sample size to examine the implications of these differences and to determine how social media could be used as a tool for learning social skills and its efficacy and safety in the ASD population.

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2. Elias R, Conner CM, White SW. Brief Report: Creation of a Transition Readiness Scale for Adolescents with ASD. Journal of autism and developmental disorders. 2022.

The transition to postsecondary education is characterized by many changes for adolescents with autism spectrum disorder (ASD). A data-based understanding of a student’s readiness for postsecondary education could help students, and their parents, better prepare for this life transition. The Transition Readiness Scale (TRS) was created to address this need. The TRS is a self/other-report questionnaire used to assess postsecondary readiness across behavioral, cognitive, and emotional domains among adolescents 15-18 years of age. The present study details measure development and provides preliminary psychometric properties in a sample of transition-aged youth with ASD. Results indicate strong internal consistency, adequate item-level analyses, and discriminant and concurrent validity. Future validation of the TRS in large-scale field testing is merited to inform clinical interpretation.

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3. Jónsdóttir LK, Neufeld J, Falck-Ytter T, Kleberg JL. Autistic Children Quickly Orient Away from Both Eyes and Mouths During Face Observation. Journal of autism and developmental disorders. 2022.

Studies have supported two different hypotheses of reduced eye gaze in people with ASD; gaze avoidance and gaze indifference, while less is known about the role of anxiety. We tested these hypotheses using an eye-tracking paradigm that cued the eyes or mouth of emotional faces. Autistic children (n = 12, mean age 7 years) looked faster away from both eyes and mouths than controls (n = 22). This effect was not explained by anxiety symptoms. No difference was found in latency towards either area. These results indicate that attentional avoidance of autistic children is not specific to eyes, and that they do not show attentional indifference to eyes compared to controls. Atypicalities in visual scanning in ASD are possibly unrelated to specific facial areas.

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4. Kaku SM, Chandran S, Roopa N, Choudhary A, Ramesh J, Somashekariah S, Kuduvalli S, Rao VS, Mysore A. Coping with autism during lockdown period of the COVID-19 pandemic: A cross-sectional survey. Indian journal of psychiatry. 2021; 63(6): 568-74.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic is thought to have greatly impacted families of individuals with autism spectrum disorder (ASD) due to lockdown, given lack of access to healthcare, therapy, and day-care centers. This survey was conducted to understand the magnitude of the impact of lockdown, and its effect on the health and behavior of individuals with ASD and their families. MATERIALS AND METHODS: We conducted an anonymous online survey, disseminated to families registered with our hospital and collaborating centers. The survey questionnaire collected information on sociodemographic details, details of the patient’s and parents’ behavior and health during the COVID-19 lockdown, and treatment details of the patient. RESULTS: A total of 153 families completed the survey. Of the 153, nearly half of the individuals with ASD had an inadequate understanding of lockdown, 54% had increased screen-time, while a third reported new-onset behavioral changes. About 40% received online therapies, of which 85% reported benefits. Of the 132 who answered the parent’s section, 55% reported decreased interest and/or pleasure in doing daily activities and 43% felt depressed and/or hopeless. About 80% of families reported short-term positive changes such as improved speech, language skills, and participation in household chores. CONCLUSION: The COVID-19 pandemic has disrupted routines, triggered behavioral issues in individuals with ASD, and impacted the coping skills of both individuals and families, along with the mental health and well-being of the family. Valuable suggestions to improve therapy services and clinical care using technology have been uncovered and need to be explored.

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5. Krnjak G, Vulin K, Pazanin L, Barisic I, Duranovic V. A case of macrophagic myofasciitis in a girl with developmental delay. Pediatrics international : official journal of the Japan Pediatric Society. 2022; 64(1): e14930.

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6. Kryszak EM, Albright CM, Stephenson KG, Nevill RE, Hedley D, Burns CO, Young RL, Butter EM, Vargo K, Mulick JA. Preliminary Validation and Feasibility of the Autism Detection in Early Childhood-Virtual (ADEC-V) for Autism Telehealth Evaluations in a Hospital Setting. Journal of autism and developmental disorders. 2022.

This study provided preliminary validation of the Autism Detection in Early Childhood-Virtual (ADEC-V) for telehealth assessment of possible autism. Participants were 121 children (24.79% female) aged 18-47 months who completed telehealth evaluations at a large pediatric hospital in the Midwestern United States between October 2020 and February 2021. The ADEC-V showed good sensitivity (0.82) and specificity (0.78) and was significantly correlated with other ASD symptom measures (i.e., CARS-2, ADI-R). Internal consistency was acceptable (α = 0.77). These results need replication in a larger and broader sample including more children without ASD. This preliminary validation study identifies the ADEC-V as a promising measure for telehealth ASD assessments in young children.

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7. Lin J, Zhang K, Cao X, Zhao Y, Ullah Khan N, Liu X, Tang X, Chen M, Zhang H, Shen L. iTRAQ-Based Proteomics Analysis of Rat Cerebral Cortex Exposed to Valproic Acid before Delivery. ACS chemical neuroscience. 2022; 13(5): 648-63.

Autism spectrum disorder (ASD) is a neurological and developmental disorder characterized by social and communication difficulties. Valproic acid (VPA) injection during pregnancy elicits autism-like behavior in the offspring, making it a classic animal model of ASD. However, the mechanisms involved have not yet been determined. In this study, we used iTRAQ (isobaric tags for relative and absolute quantification) proteomics analysis of the cerebral cortex of a VPA rat model (VPA group) and controls (CON group). The results showed that 79 differentially expressed proteins (DEPs) were identified between the VPA group and the CON group. Based on bioinformatics analysis, the DEPs were mainly enriched at synapses, especially glutamatergic synapses and GABAergic synapses. Some DEPs were involved in energy metabolism, thyroid hormone synthesis pathway, and Na(+)-K(+)-ATPase. Cytoskeleton and endoplasmic reticulum (ER) stress-related proteins were also involved. Some DEPs matched either the ASD gene database or previous reports on cerebral cortical transcriptome studies in VPA rat models. Dysregulation of these DEPs in the cerebral cortex of VPA rats may be responsible for autism-like behavior in rats. We also found that some DEPs were associated with neuropsychiatric disorders, implying that these diseases share common signaling pathways and mechanisms. Moreover, increased expression of DEPs was associated with energy metabolism in the cerebral cortex of VPA rats, implying that ASD may be a distinct type of mitochondrial dysfunction that requires further investigation.

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8. Mazziotti R, Scaffei E, Conti E, Marchi V, Rizzi R, Cioni G, Battini R, Baroncelli L. The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children. Translational psychiatry. 2022; 12(1): 53.

Autistic traits represent a continuum dimension across the population, with autism spectrum disorder (ASD) being the extreme end of the distribution. Accumulating evidence shows that neuroanatomical and neurofunctional profiles described in relatives of ASD individuals reflect an intermediate neurobiological pattern between the clinical population and healthy controls. This suggests that quantitative measures detecting autistic traits in the general population represent potential candidates for the development of biomarkers identifying early pathophysiological processes associated with ASD. Functional near-infrared spectroscopy (fNIRS) has been extensively employed to investigate neural development and function. In contrast, the potential of fNIRS to define reliable biomarkers of brain activity has been barely explored. Features of non-invasiveness, portability, ease of administration, and low-operating costs make fNIRS a suitable instrument to assess brain function for differential diagnosis, follow-up, analysis of treatment outcomes, and personalized medicine in several neurological conditions. Here, we introduce a novel standardized procedure with high entertaining value to measure hemodynamic responses (HDR) in the occipital cortex of adult subjects and children. We found that the variability of evoked HDR correlates with the autistic traits of children, assessed by the Autism-Spectrum Quotient. Interestingly, HDR amplitude was especially linked to social and communication features, representing the core symptoms of ASD. These findings establish a quick and easy strategy for measuring visually-evoked cortical activity with fNIRS that optimize the compliance of young subjects, setting the background for testing the diagnostic value of fNIRS visual measurements in the ASD clinical population.

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9. Sha Z, van Rooij D, Anagnostou E, Arango C, Auzias G, Behrmann M, Bernhardt B, Bolte S, Busatto GF, Calderoni S, Calvo R, Daly E, Deruelle C, Duan M, Duran FLS, Durston S, Ecker C, Ehrlich S, Fair D, Fedor J, Fitzgerald J, Floris DL, Franke B, Freitag CM, Gallagher L, Glahn DC, Haar S, Hoekstra L, Jahanshad N, Jalbrzikowski M, Janssen J, King JA, Lazaro L, Luna B, McGrath J, Medland SE, Muratori F, Murphy DGM, Neufeld J, O’Hearn K, Oranje B, Parellada M, Pariente JC, Postema MC, Remnelius KL, Retico A, Rosa PGP, Rubia K, Shook D, Tammimies K, Taylor MJ, Tosetti M, Wallace GL, Zhou F, Thompson PM, Fisher SE, Buitelaar JK, Francks C. Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium. Molecular psychiatry. 2022.

Small average differences in the left-right asymmetry of cerebral cortical thickness have been reported in individuals with autism spectrum disorder (ASD) compared to typically developing controls, affecting widespread cortical regions. The possible impacts of these regional alterations in terms of structural network effects have not previously been characterized. Inter-regional morphological covariance analysis can capture network connectivity between different cortical areas at the macroscale level. Here, we used cortical thickness data from 1455 individuals with ASD and 1560 controls, across 43 independent datasets of the ENIGMA consortium’s ASD Working Group, to assess hemispheric asymmetries of intra-individual structural covariance networks, using graph theory-based topological metrics. Compared with typical features of small-world architecture in controls, the ASD sample showed significantly altered average asymmetry of networks involving the fusiform, rostral middle frontal, and medial orbitofrontal cortex, involving higher randomization of the corresponding right-hemispheric networks in ASD. A network involving the superior frontal cortex showed decreased right-hemisphere randomization. Based on comparisons with meta-analyzed functional neuroimaging data, the altered connectivity asymmetry particularly affected networks that subserve executive functions, language-related and sensorimotor processes. These findings provide a network-level characterization of altered left-right brain asymmetry in ASD, based on a large combined sample. Altered asymmetrical brain development in ASD may be partly propagated among spatially distant regions through structural connectivity.

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10. Song IG, Kim HS, Cho YM, Lim YN, Moon DS, Shin SH, Kim EK, Park J, Shin JE, Han J, Eun HS. Association between birth weight and neurodevelopmental disorders assessed using the Korean National Health Insurance Service claims data. Scientific reports. 2022; 12(1): 2080.

The risk of neurodevelopmental disorders in low birth weight (LBW) infants has gained recognition but remains debatable. We investigated the risk of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in school-aged children according to their birth weight. We conducted a retrospective cohort study using the Korean National Health Insurance claims data of 2,143,652 children who were born between 2008 and 2012. Gestational age of infants was not available; thus, outcomes were not adjusted with it. Not only infants with birth weights of < 1.5 kg, but also 2.0-2.4 kg and 1.5-1.9 kg were associated with having ADHD; odds ratio (OR), 1.41 (95% confidence interval [CI] 1.33-1.50), and 1.49 (95% CI 1.33-1.66), respectively. The OR in infants with birth weights of 2.0-2.4 kg and 1.5-1.9 kg was 1.91 (95% CI 1.79-2.05) and 3.25 (95% CI 2.95-3.59), respectively, indicating increased odds of having ASD. Subgroup analysis for children without perinatal diseases showed similar results. In this national cohort, infants with birth weights of < 2.5 kg were associated with ADHD and ASD, regardless of perinatal history. Children born with LBW need detailed clinical follow-up.

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11. Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel AL, Cappuccio G, Brunetti-Pierri N, Willems M, Isidor B, Park K, Balasubramanian M. Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American journal of medical genetics Part A. 2022; 188(5): 1497-514.

Pathogenic variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All patients were found to harbor de novo loss-of-function variants except for one individual where the inheritance could not be determined, as a parent was unavailable for testing. All patients had seizures which started in early childhood, global developmental delay, intellectual disability, and dysmorphic features. In addition, hypotonia, behavioral abnormalities (such as autistic features, aggression, anxiety, and obsessive-compulsive behaviors), and cardiac (septal defects) and/or brain abnormalities (ventriculomegaly and corpus callosum thinning/agenesis) were frequently observed. We have noted four recurrent variants in the literature (c.1089G>A p.(Trp363*), c.706_707del p.(Glu236Thrfs*6), c.847_857del p.(Phe283Serfs*5), and c.1681dels p.(Gln561Serfs*45)).

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12. Zhang Y, Glineburg MR, Basrur V, Conlon K, Wright SE, Krans A, Hall DA, Todd PK. Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome. Human molecular genetics. 2022.

Repeat associated non-AUG (RAN) translation of CGG repeats in the 5’UTR of FMR1 produces toxic proteins that contribute to Fragile X-associated tremor/ataxia syndrome (FXTAS) pathogenesis. The most abundant RAN product, FMRpolyG, initiates predominantly at an ACG upstream of the repeat. Accurate FMRpolyG measurements in FXTAS patients are lacking. We used data dependent acquisition and parallel reaction monitoring (PRM) mass spectrometry coupled with stable isotope labeled standard peptides to identify signature FMRpolyG fragments in patient samples. Following immunoprecipitation, PRM detected FMRpolyG signature peptides in transfected cells, and FXTAS tissues and cells, but not in controls. We identified two amino-terminal peptides: an ACG initiated Ac-MEAPLPGGVR, and a GUG initiated Ac-TEAPLPGGVR, as well as evidence for RAN translation initiation within the CGG repeat itself in two reading frames. Initiation at all sites increased following cellular stress, decreased following eIF1 overexpression and was eIF4A and M7G cap dependent. These data demonstrate FMRpolyG is quantifiable in human samples and FMR1 RAN translation initiates via similar mechanisms for near-cognate codons and within the repeat through processes dependent on available initiation factors and cellular environment.

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