1. Alhazmi S, Alzahrani M, Farsi R, Alharbi M, Algothmi K, Alburae N, Ganash M, Azhari S, Basingab F, Almuhammadi A, Alqosaibi A, Alkhatabi H, Elaimi A, Jan M, Aldhalaan HM, Alrafiah A, Alrofaidi A. Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder. Pharmgenomics Pers Med;2022;15:705-720.

INTRODUCTION: Autism spectrum disorder (ASD) is a developmental disorder that can cause substantial social, communication, and behavioral challenges. Genetic factors play a significant role in ASD, where the risk of ASD has been increased for unclear reasons. Twin studies have shown important evidence of both genetic and environmental contributions in ASD, where the level of contribution of these factors has not been proven yet. It has been suggested that copy number variation (CNV) duplication and the deletion of many genes in chromosome 22 (Ch22) may have a strong association with ASD. This study screened the CNVs in Ch22 in autistic Saudi children and assessed the candidate gene in the CNVs region of Ch22 that is most associated with ASD. METHODS: This study included 15 autistic Saudi children as well as 4 healthy children as controls; DNA was extracted from samples and analyzed using array comparative genomic hybridization (aCGH) and DNA sequencing. RESULTS: The aCGH detected (in only 6 autistic samples) deletion and duplication in many regions of Ch22, including some critical genes. Moreover, DNA sequencing determined a genetic mutation in the TBX1 gene sequence in autistic samples. This study, carried out using aCGH, found that six autistic patients had CNVs in Ch22, and DNA sequencing revealed mutations in the TBX1 gene in autistic samples but none in the control. CONCLUSION: CNV deletion and the duplication of the TBX1 gene could be related to ASD; therefore, this gene needs more analysis in terms of expression levels.

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2. Cai RY, Gibbs V, Love A, Robinson A, Fung L, Brown L. « Self-compassion changed my life »: The self-compassion experiences of autistic and non-autistic adults and its relationship with mental health and psychological wellbeing. J Autism Dev Disord;2022 (Jul 29)

Self-compassion is a gentle way of relating to oneself, linked to a host of mental health benefits in non-autistic people. Although many autistic individuals report high anxiety and depression symptoms, no research to-date has examined the self-compassion experiences of autistic individuals and determined if self-compassion is associated with psychopathology. Therefore, the purpose of the current study was to address this research gap. The participants (153 autistic and 93 non-autistic adults) completed on online survey and 11 autistic participants were also interviewed. Autistic participants reported significantly lower self-compassion than non-autistic adults, and in both groups, those with higher self-compassion reported higher psychological wellbeing and lower depression symptoms. Demographic predictors of self-compassion were identified. These findings have both clinical and research implications.

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3. Carmine L, Fisher M. Menstrual and reproductive health in female adolescents with developmental disabilities. Curr Probl Pediatr Adolesc Health Care;2022 (Jul 25):101243.

Youth with intellectual and developmental disabilities (I/DD) are impacted by pubertal changes and the onset of menses disproportionately. Despite the fact that for most youth with I/DD, the progression of puberty, menarche, and irregular cycles due to axis immaturity appear to be consistent with the general population, cyclic behavioral changes and premenstrual symptoms may be more common. Furthermore, for some disabled youth there are endocrine or medication effects that may impact menses disproportionately. Education and access to care is essential for this group to address many aspects of treatment, from prepubertal anticipatory guidance to menstrual management, with special attention required for addressing issues concerning hygiene, cyclic pain, behavior changes, sexuality, potential for abuse, and pregnancy prevention.(1-4) This article will provide an overview of the policies and guidance available for management of the menstrual issues encountered in adolescents with intellectual and developmental disabilities and complex medical disorders. Included will be a review of studies that evaluate the different types of methods that are utilized for menstrual management and the different conditions that are encountered.

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4. Chandler S, Carter Leno V, White P, Yorke I, Hollocks MJ, Baird G, Pickles A, Simonoff E, Charman T. Pathways to adaptive functioning in autism from early childhood to adolescence. Autism Res;2022 (Jul 28)

Adaptive functioning is lower in many autistic individuals to a greater extent than would be expected based on IQ. However, the clinical features associated with these difficulties are less well understood. This study examines longitudinal and contemporaneous associations of adaptive functioning in autistic youth across a wide ability range. Parent-reported autism symptoms, co-occurring emotional, behavioral and attention deficit hyperactivity disorder (ADHD) symptoms, and IQ were assessed in early childhood (M age 7 years; T1) and 6 years later in adolescence (M age 13 years; T2) in 179 autistic youth. Adaptive functioning was assessed at T2. Structural equation modeling estimated pathways to adaptive functioning from autism, and psychiatric symptoms at T1 and T2, testing whether associations were driven by continuity of behaviors from T1 to T2 or their contemporaneous effect at T2, or both, controlling for T1 IQ. Lower adaptive functioning at T2 was associated with higher T1 and T2 ADHD symptoms (β = -0.14, and β = -0.21) but not behavioral nor emotional symptoms at either timepoint. Lower adaptive functioning at T2 was also associated with lower T1 IQ (β = 0.43) and higher social communication symptoms (β = -0.37) at T2 but not T1, but the relationship with ADHD symptoms remained. Paths were not moderated by sex or IQ. Increased symptoms of ADHD, both in early childhood and contemporaneously, were associated with reduced adaptive functioning in adolescence. Co-occurring ADHD may be a modifiable risk factor for adaptive function impairments and should be routinely assessed and when present evidence-based treatments initiated which may benefit adaptive functioning outcomes. LAY SUMMARY: Adaptive functioning is lower in many autistic individuals to a greater extent than would be expected based on IQ. However, the clinical features associated with these difficulties are less well understood. In a community sample higher attention deficit/hyperactivity disorder (ADHD) symptoms, but not emotional or behavioral symptoms, in both early childhood and contemporaneously were associated with lower adaptive functioning in autistic adolescents. Co-occurring ADHD may be a modifiable risk factor for adaptive function difficulties in autism.

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5. Davis K, Iosif AM, Nordahl CW, Solomon M, Krug MK. Correction: Video Game Use, Aggression, and Social Impairment in Adolescents with Autism Spectrum Disorder. J Autism Dev Disord;2022 (Jul 29)

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6. Diemer MC, Gerstein ED, Regester A. Autism presentation in female and Black populations: Examining the roles of identity, theory, and systemic inequalities. Autism;2022 (Jul 28):13623613221113501.

Although the prevalence of autism has been rising in recent years, disparities in diagnosis still remain. Female and Black populations in the United States are diagnosed later, are more likely to have an intellectual disability, and are excluded from research as well as services designed for autistic individuals. Autistic Black girls are effectively invisible in the current scientific literature. Intersectional theory, which looks at a person as a whole, examines models that are inclusive toward diverse gender, ability, and racial/ethnic backgrounds. This theory may be a useful approach to clinical and research work with autism so that practitioners may be most effective for the whole population of autistic people. The authors recommend research focusing on inclusion of autistic populations with intellectual disability and research studies that include evaluations as part of the procedure. Clinically, the authors recommend a focus on screening all young children for autism and improving provider knowledge in working with diverse autistic populations.

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7. Durankuş F, Albayrak Y, Erdoğan F, Albayrak N, Erdoğan MA, Erbaş O. Granulocyte Colony-Stimulating Factor Has a Sex-Dependent Positive Effect in the Maternal Immune Activation-Induced Autism Model. Int J Dev Neurosci;2022 (Jul 29)

OBJECTIVE: The medical intervention for autism spectrum disorder (ASD) is restricted to ameliorating comorbid situations. Granulocyte colony-stimulating factor (G-CSF) is a growth factor that enhances the proliferation, differentiation and survival of hematopoietic progenitor cells. In the present study, we aimed to investigate the effects of G-CSF in a maternal immune activation-induced autism model. METHODS: Sixteen female and 6 male Wistar adult rats were included in the study. After 21 days, forty-eight littermates (8 male controls, 8 female controls, 16 male lipopolysaccharide (LPS)-exposed rats and 16 female LPS-exposed rats) were divided into groups. Sixteen male LPS-exposed and 16 female LPS-exposed rats were divided into saline and G-CSF treatment groups. RESULTS: In male rats, the LPS-exposed group was found to have significantly higher levels of TNF-α, IL-2, and IL-17 than the LPS-exposed G-CSF group. Levels of nerve growth factor, brain PSD-95 and brain GAD67 were higher in the LPS-exposed G-CSF group than in the LPS-exposed group in male rats. In female rats, brain NGF levels were similar between groups. There was no difference between groups in terms of brain GAD 67 levels. Brain PSD-95 levels were higher in the control group than in both the LPS-exposed and LPS-exposed G-CSF groups in female rats. Both neuronal CA1 and neuronal CA2 levels were lower, and the GFAP immunostaining index (CA1) and GFAP immunostaining index (CA3) were higher in the LPS-exposed group than in the LPS-exposed G-CSF group in male rats. However, neuronal count CA1 and Neuronal count CA3 values were found to be similar between groups in female rats. CONCLUSIONS: The present research is the first to demonstrate the beneficial effects of G-CSF on core symptoms of ASD experimentally depending on male sex. G-CSF can be a good candidate for ameliorating the core symptoms of ASD without serious side effects in males.

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8. Gerber AH, Kang E, Nahmias AS, Libsack EJ, Simson C, Lerner MD. Predictors of Treatment Response to a Community-Delivered Group Social Skills Intervention for Youth with ASD. J Autism Dev Disord;2022 (Jul 29)

Group social skills interventions (GSSIs) are among the most commonly used treatments for improving social competence in youth with ASD, however, results remain variable. The current study examined predictors of treatment response to an empirically-supported GSSI for youth with ASD delivered in the community (N(total)=75). Participants completed a computer-based emotion recognition task and their parents completed measures of broad psychopathology, ASD symptomatology, and social skills. We utilized generalized estimating equations in an ANCOVA-of-change framework to account for nesting. Results indicate differential improvements in emotion recognition by sex as well as ADHD-specific improvements in adaptive functioning. Youth with both co-occurring anxiety and ADHD experienced iatrogenic effects, suggesting that SDARI may be most effective for youth with ASD without multiple co-occurring issues. Findings provide important directions for addressing variability in treatment outcomes for youth with ASD.

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9. Hecker L, Wilson M, Tebartz van Elst L, Kornmeier J. Altered EEG variability on different time scales in participants with autism spectrum disorder: an exploratory study. Sci Rep;2022 (Jul 29);12(1):13068.

One of the great challenges in psychiatry is finding reliable biomarkers that may allow for more accurate diagnosis and treatment of patients. Neural variability received increasing attention in recent years as a potential biomarker. In the present explorative study we investigated temporal variability in visually evoked EEG activity in a cohort of 16 adult participants with Asperger Syndrome (AS) and 19 neurotypical (NT) controls. Participants performed a visual oddball task using fine and coarse checkerboard stimuli. We investigated various measures of neural variability and found effects on multiple time scales. (1) As opposed to the previous studies, we found reduced inter-trial variability in the AS group compared to NT. (2) This effect builds up over the entire course of a 5-min experiment and (3) seems to be based on smaller variability of neural background activity in AS compared to NTs. The here reported variability effects come with considerably large effect sizes, making them promising candidates for potentially reliable biomarkers in psychiatric diagnostics. The observed pattern of universality across different time scales and stimulation conditions indicates trait-like effects. Further research with a new and larger set of participants are thus needed to verify or falsify our findings.

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10. Hobson H, Poole D, Pearson A, Fletcher-Watson S. Opening up autism research: Bringing open research methods to our field. Autism;2022 (Jul);26(5):1011-1013.

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11. Jurek L, Leadbitter K, Falissard B, Colin C, Touzet S, Geoffray MM. Parental experience of parent-mediated intervention for children with ASD: A systematic review and qualitative evidence synthesis. Autism;2022 (Jul 28):13623613221112204.

The effectiveness of parent-mediated interventions in the field of autism spectrum disorder is well documented but information on the experience of parents involved in parent-mediated interventions is limited.This study is the first synthesis of evidence concerning the experience of parents involved in parent-mediated interventions. It synthesizes the voice of 345 parents across the world into four general themes: barriers to implementation and logistical issues, feeling overwhelmed and stressed (a need for support), facilitators of implementation, and empowerment in the parent and improvement in the child.The findings of our study provide evidence that parent-mediated interventions should be adapted to the needs of each family. Specific care and support should be offered to parents in addition to parent-mediated interventions. Our study, however, highlights which outcomes are important to parents and should be considered in future studies.

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12. Kummer S, Rinné S, Seemann G, Bachmann N, Timothy K, Thornton PS, Pillekamp F, Mayatepek E, Bergmann C, Meissner T, Decher N. Hyperinsulinemic Hypoglycemia Associated with a Ca(V)1.2 Variant with Mixed Gain- and Loss-of-Function Effects. Int J Mol Sci;2022 (Jul 22);23(15)

The voltage-dependent L-type calcium channel isoform Ca(V)1.2 is critically involved in many physiological processes, e.g., in cardiac action potential formation, electromechanical coupling and regulation of insulin secretion by beta cells. Gain-of-function mutations in the calcium voltage-gated channel subunit alpha 1 C (CACNA1C) gene, encoding the Ca(V)1.2 α(1)-subunit, cause Timothy syndrome (TS), a multisystemic disorder that includes autism spectrum disorders and long QT (LQT) syndrome. Strikingly, TS patients frequently suffer from hypoglycemia of yet unproven origin. Using next-generation sequencing, we identified a novel heterozygous CACNA1C mutation in a patient with congenital hyperinsulinism (CHI) and associated hypoglycemic episodes. We characterized the electrophysiological phenotype of the mutated channel using voltage-clamp recordings and in silico action potential modeling experiments. The identified Ca(V)1.2(L566P) mutation causes a mixed electrophysiological phenotype of gain- and loss-of-function effects. In silico action potential modeling supports that this mixed electrophysiological phenotype leads to a tissue-specific impact on beta cells compared to cardiomyocytes. Thus, CACNA1C variants may be associated with non-syndromic hyperinsulinemic hypoglycemia without long-QT syndrome, explained by very specific electrophysiological properties of the mutated channel. We discuss different biochemical characteristics and clinical impacts of hypoglycemia in the context of CACNA1C variants and show that these may be associated with significant morbidity for Timothy Syndrome patients. Our findings underline that the potential of hypoglycemia warrants careful attention in patients with CACNA1C variants, and such variants should be included in the differential diagnosis of non-syndromic congenital hyperinsulinism.

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13. Lee D, Frey GC, Cothran DJ, Harezlak J, Shih PC. Effects of a Gamified, Behavior Change Technique-Based Mobile App on Increasing Physical Activity and Reducing Anxiety in Adults With Autism Spectrum Disorder: Feasibility Randomized Controlled Trial. JMIR Form Res;2022 (Jul 28);6(7):e35701.

BACKGROUND: Physical activity (PA) has an impact on physical and mental health in neurotypical populations, and addressing these variables may improve the prevalent burden of anxiety in adults with autism spectrum disorder (ASD). Gamified mobile apps using behavior change techniques present a promising way of increasing PA and reducing sedentary time, thus reducing anxiety in adults with ASD. OBJECTIVE: This study aimed to compare the effectiveness of a gamified and behavior change technique-based mobile app, PuzzleWalk, versus a commercially available app, Google Fit, on increasing PA and reducing sedentary time as an adjunct anxiety treatment for this population. METHODS: A total of 24 adults with ASD were assigned to either the PuzzleWalk or Google Fit group for 5 weeks using a covariate-adaptive randomization design. PA and anxiety were assessed over 7 days at 3 different data collection periods (ie, baseline, intervention start, and intervention end) using triaxial accelerometers and the Beck Anxiety Inventory. Group differences in outcome variables were assessed using repeated-measures analysis of covariance, adjusting for age, sex, and BMI. RESULTS: The findings indicated that the PuzzleWalk group spent a significantly longer amount of time on app use compared with the Google Fit group (F(2,38)=5.07; P=.01; partial η(2)=0.21), whereas anxiety was unfavorably associated with increases in light PA and decreases in sedentary time after intervention (all P<.05). CONCLUSIONS: Further research is needed to clarify the determinants of physical and mental health and their interrelationship in adults with ASD to identify the factors that facilitate the use and adoption of mobile health technologies in these individuals. Despite these mixed results, the small changes in PA or anxiety may be clinically significant for adults with ASD. TRIAL REGISTRATION: ClinicalTrials.gov NCT05466617; https://clinicaltrials.gov/show/NCT05466617.

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14. Lu Y, Zhang L, Wu XY, Fei FR, Han H. Systematic Bibliometric and Visualized Analysis of Research Hotspots and Trends on Autism Spectrum Disorder Neuroimaging. Dis Markers;2022;2022:3372217.

BACKGROUND: Autism spectrum disorder (ASD) is a chronic developmental disability caused by differences in the brain. The gold standard for the diagnosis of this condition is based on behavioral science, but research on the application of neurological detection to diagnose the atypical nervous system of ASD is ongoing. ASD neuroimaging research involves the examination of the brain’s structure, functional connections, and neurometabolic. However, limited medical resource and the unique heterogeneity of ASD have resulted in many challenges when neuroimaging is utilized. OBJECTIVE: This bibliometric study is aimed at summarizing themes and trends in research on autism spectrum disorder neuroimaging and at proposing potential directions for future inquiry. METHODS: Citations were downloaded from the Web of Science Core Collection database on neuroimaging published from January 1, 2012, to December 31, 2021. The retrieved information was analyzed using Bibliometric.com, CiteSpace.5.8. R3, and VOS viewer. RESULTS: A total of 1,363 papers were published across 58 regions. The United States was the leading source of publications. The League of European Research Universities published the largest number of articles (171). Burst keywords from 2018 to 2021 include identification and network. The clusters of references that continued into 2020 included graph theory, functional connectivity, and classification, which represent key research topics. CONCLUSIONS: Imaging data is being used to identify neuro-network models with higher accuracy for ASD discrimination. Functional near-infrared imaging is advantageous compared to other neuroimaging. In the future, research on systematic and accurate computer-aided diagnosis technology should be encouraged. Moreover, the study of neuroimaging of ASD in different psychological and behavioral states can inspire new ideas about the diagnosis and intervention training of ASD and should be explored.

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15. Ludlow AK, Osborne C, Keville S. Selective Mutism in Children With and Without an Autism Spectrum Disorder: The Role of Sensory Avoidance in Mediating Symptoms of Social Anxiety. J Autism Dev Disord;2022 (Jul 29)

The present study addressed the different contributors to social anxiety in children with Selective Mutism (SM), with and without co-occurring Autism Spectrum Disorder (ASD) (SM + ASD). Seventy-five parents completed an online composite questionnaire consisting of the symptoms of SM and ASD, anxiety and sensory measures. The results found the SM + ASD group showed significantly higher levels of social anxiety and sensory avoidance compared to the SM only group. However, a simple mediation model revealed sensory avoidance to be a mediator of this relationship between the diagnosis and social anxiety.. Therefore, higher levels of sensory avoidance may help to differentiate social anxiety between the groups and may also be a sign of ASD in children with SM who have and/or are yet to receive an ASD diagnosis.

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16. Meads J, Shepherd D, Landon J, Goedeke S. Brief Report: Investigating Temporal Factors in the Context of Parenting an Autistic Child. J Autism Dev Disord;2022 (Jul 28)

The current study was a secondary analysis of cross-sectional data collected in New Zealand. Parents (n = 291) of an autistic child completed an online survey that included temporal/demographic questions relating to the parent and child, and parent ratings of the child’s core ASD symptoms, their parenting stress, and psychological well-being. Child and parent ages were related to ASD core symptoms, parenting stress, and psychological well-being, the parent-child age gap was not. Diagnostic delay was only positively associated with parent depression and negatively associated with child communication impairment. Findings indicated that temporal variables can be predictive of parent well-being and child autism symptoms. The findings suggest that focusing interventions on communication abilities may have positive impacts parental mental health.

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17. Nayar K, Kang X, Winston M, Wong P, Losh M. A cross-cultural study of visual attention in autism spectrum disorder. Child Neuropsychol;2022 (Jul 29):1-32.

Differences in visual attention have been documented in ASD, and appear linked to clinical symptoms. However, most research has been conducted in Western cultures. Because striking differences in visual attention patterns have been documented in other cultures, it is important to understand how culture may influence attentional patterns in ASD. This study compared differences in visual attention in ASD across Western and East Asian cultures, where differences in attention to contextual and global information have been repeatedly demonstrated, to investigate potential culturally-specific ASD phenotypes. One hundred thirty-two total participants included individuals with ASD (n = 24) and controls (n = 47) from Hong Kong (HK), along with a previously studied group of age- and IQ-comparable participants from the United States (n = 26 ASD; n = 35 control). Gaze was tracked while participants completed two narrative tasks that differed in social-emotional complexity. Proportions of fixations to face, bodies, and setting were examined across groups using linear mixed-effect models and a series of growth curve models. Cultural differences were found across tasks and groups. Both the ASD and control HK groups attended more to global contextual setting information, more to the body regions, and less toward faces of characters compared to US groups. Growth curve models indicated that these differences attenuated over time in certain stimuli. ASD-related effects were only observed in the more complex stimuli depicting characters with ambiguous facial expressions. Findings indicate a notable cultural influence on visual attention patterns in ASD, and underscore the importance of stimuli complexity in differentiating cultural versus diagnostic effects on attentional styles.

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18. Pedrazzi JFC, Ferreira FR, Silva-Amaral D, Lima DA, Hallak JEC, Zuardi AW, Del-Bel EA, Guimarães FS, Costa KCM, Campos AC, Crippa ACS, Crippa JAS. Cannabidiol for the treatment of autism spectrum disorder: hope or hype?. Psychopharmacology (Berl);2022 (Jul 29)

RATIONALE: Autism spectrum disorder (ASD) is defined as a group of neurodevelopmental disorders whose symptoms include impaired communication and social interaction, restricted and repetitive patterns of behavior, and varying levels of intellectual disability. ASD is observed in early childhood and is one of the most severe chronic childhood disorders in prevalence, morbidity, and impact on society. It is usually accompanied by attention deficit hyperactivity disorder, anxiety, depression, sleep disorders, and epilepsy. The treatment of ASD has low efficacy, possibly because it has a heterogeneous nature, and its neurobiological basis is not clearly understood. Drugs such as risperidone and aripiprazole are the only two drugs available that are recognized by the Food and Drug Administration, primarily for treating the behavioral symptoms of this disorder. These drugs have limited efficacy and a high potential for inducing undesirable effects, compromising treatment adherence. Therefore, there is great interest in exploring the endocannabinoid system, which modulates the activity of other neurotransmitters, has actions in social behavior and seems to be altered in patients with ASD. Thus, cannabidiol (CBD) emerges as a possible strategy for treating ASD symptoms since it has relevant pharmacological actions on the endocannabinoid system and shows promising results in studies related to disorders in the central nervous system. OBJECTIVES: Review the preclinical and clinical data supporting CBD’s potential as a treatment for the symptoms and comorbidities associated with ASD, as well as discuss and provide information with the purpose of not trivializing the use of this drug.

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19. Rashaid AHB, Alqhazo MT, Nusair SD, Adams JB, Bashtawi MA, Al-Fawares O. Profiling plasma levels of thiamine and histamine in Jordanian children with autism spectrum disorder (ASD): potential biomarkers for evaluation of ASD therapies and diet. Nutr Neurosci;2022 (Jul 28):1-8.

BACKGROUND: The current work involved monitoring two biomarkers in the plasma of children with ASD: the cofactor thiamine that is involved in neurotransmitters modulation for acetylcholine, and the compound histamine, which acts as a neuromodulator by regulating the release of other neurotransmitters. This is the first report to highlight the potential utilization of plasma levels of the selected two brain-related biomarkers in children with ASD. METHODS: A total of 43 children with ASD of both genders (age 4-12 years) were involved in this study and compared to age and gender-matched control children (n = 42). The diagnosis of ASD was based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM5), followed by an additional assessment using the Childhood Autism Rating Scale (CARS). All participants were Jordanian children on Mediterranean diet, and had no history of chronic illness or medications. Measurement of thiamine and histamine in plasma was performed using enzyme-linked immunosorbent assay (ELISA). RESULTS: The outcomes revealed that average histamine levels (31.7 ± 18.5 ng/ml) of ASD group were 5.3× higher (p < .001) compared to their control (0.013 ± 0.011 ng/ml; 6.03 ± 4.25 ng/ml), while thiamine (10.78 ± 7.49 ng/ml) levels of ASD group were significantly lower (p < .001) than the control (37.92 ± 26.87 ng/ml; 0.209 ± 0.054 ng/ml). CONCLUSIONS: The study is proposing that monitoring of the plasma levels of thiamine and histamine as biomarkers for future evaluation and development of ASD therapies and nutritious diets.

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20. Santoro G, Pizzuto A, Cuman M, Haxhiademi D, Marchese P, Franchi E, Marrone C, Pak V, Assanta N, Cantinotti M. Transcatheter closure of « Surgical » ostium secundum atrial septal defects with GORE® Cardioform ASD Occluder. J Card Surg;2022 (Jul 28)

OBJECTIVE: To evaluate the GORE® Cardioform ASD Occluder (GCA)(WL Gore & Associates) device for closure of ostium secundum atrial septal defects (ASDs) with predicted indication for surgical correction. BACKGROUND: Closure of large ASD in small children by transcatheter approach is still challenging. This study evaluated the results of GCA in this subset of patients in a tertiary referral center. METHODS: Between January 2020 and March 2022, 97 children underwent transcatheter ASD closure at our Institution. Of them, 38 had a large defect (diameter/weight > 1.2 or diameter/body surface area > 20 mm/m(2) ), predicted suitable for surgery and underwent closure with GCA. Procedure results and midterm outcome are reported. RESULTS: Patients’ age and weight were 5.5 ± 1.5 years and 19.7 ± 4.7 kg, respectively. Absolute and relative ASD size was 21.5 ± 3.6 mm, 1.1 ± 0.2 mm/kg, and 27.7 ± 4.6 mm/m(2) , respectively, resulting in QP/QS of 2.0 ± 0.8. Three patients were sent to surgery after balloon sizing. Four of the remaining 35 patients who underwent device deployment, needed rescue or elective surgery due to device embolization (n = 1), device instability (n = 2) or new-onset tricuspid valve regurgitation (n = 1). Procedure feasibility was 88.6%. Major complications were recorded in two patients (5.7%). Minor complications were recorded in five patients (14.3%). Complete closure at discharge was 90.3% (28/31 pts) rising to 100% at the last follow-up evaluation. Wireframe fracture rate at the 6 months examination was 52%, without clinical and instrumental consequences. CONCLUSIONS: Percutaneous treatment with GCA device is effective and safe in a high percentage of ASD children with predicted indications for surgical correction.

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21. Silkey M, Durán-Pacheco G, Johnson M, Liu C, Clinch S, Law K, Loss G. Correction: The Autism Impact Measure (AIM): Meaningful Change Thresholds and Core Symptom Changes Over One Year from an Online Survey in the U.S. J Autism Dev Disord;2022 (Jul 28)

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22. Stapleton GE. Pushing the boundaries: Are we approaching the limits for transcatheter ASD closure?. J Card Surg;2022 (Jul 28)

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23. Tye C, Bussu G, Gliga T, Elsabbagh M, Pasco G, Johnsen K, Charman T, Jones EJH, Buitelaar J, Johnson MH. Understanding the nature of face processing in early autism: A prospective study. J Psychopathol Clin Sci;2022 (Aug);131(6):542-555.

Dimensional approaches to psychopathology interrogate the core neurocognitive domains interacting at the individual level to shape diagnostic symptoms. Embedding this approach in prospective longitudinal studies could transform our understanding of the mechanisms underlying neurodevelopmental disorders. Such designs require us to move beyond traditional group comparisons and determine which domain-specific alterations apply at the level of the individual, and whether they vary across distinct phenotypic subgroups. As a proof of principle, this study examines how the domain of face processing contributes to the emergence of autism spectrum disorder (ASD). We used an event-related potentials (ERPs) task in a cohort of 8-month-old infants with (n = 148) and without (n = 68) an older sibling with ASD, and combined traditional case-control comparisons with machine-learning techniques for prediction of social traits and ASD diagnosis at 36 months, and Bayesian hierarchical clustering for stratification into subgroups. A broad profile of alterations in the time-course of neural processing of faces in infancy was predictive of later ASD, with a strong convergence in ERP features predicting social traits and diagnosis. We identified two main subgroups in ASD, defined by distinct patterns of neural responses to faces, which differed on later sensory sensitivity. Taken together, our findings suggest that individual differences between infants contribute to the diffuse pattern of alterations predictive of ASD in the first year of life. Moving from group-level comparisons to pattern recognition and stratification can help to understand and reduce heterogeneity in clinical cohorts, and improve our understanding of the mechanisms that lead to later neurodevelopmental outcomes. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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24. Yildirim M, Delepine C, Feldman D, Pham VA, Chou S, Ip J, Nott A, Tsai LH, Ming GL, So PTC, Sur M. Label-free three-photon imaging of intact human cerebral organoids for tracking early events in brain development and deficits in Rett syndrome. Elife;2022 (Jul 29);11

Human cerebral organoids are unique in their development of progenitor-rich zones akin to ventricular zones from which neuronal progenitors differentiate and migrate radially. Analyses of cerebral organoids thus far have been performed in sectioned tissue or in superficial layers due to their high scattering properties. Here, we demonstrate label-free three-photon imaging of whole, uncleared intact organoids (~2 mm depth) to assess early events of early human brain development. Optimizing a custom-made three-photon microscope to image intact cerebral organoids generated from Rett Syndrome patients, we show defects in the ventricular zone volumetric structure of mutant organoids compared to isogenic control organoids. Long-term imaging live organoids reveals that shorter migration distances and slower migration speeds of mutant radially migrating neurons are associated with more tortuous trajectories. Our label-free imaging system constitutes a particularly useful platform for tracking normal and abnormal development in individual organoids, as well as for screening therapeutic molecules via intact organoid imaging.

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25. Zarakoviti E, Shafran R, Skuse D, McTague A, Batura N, Palmer T, Dalrymple E, Bennett SD, Reilly C. Factor associated with the occurrence of epilepsy in autism: a systematic review. J Autism Dev Disord;2022 (Jul 29)

This systematic review aimed to identify factors significantly associated with the occurrence of epilepsy in autistic individuals and to consider the impact of study quality on findings. Electronic databases were systematically searched on October 2nd, 2020 and records retrieved were limited to those published from 2000 onwards. Study quality was categorised as ‘good’, ‘moderate’ or ‘weak’. Fifty-three studies were included and in studies where the prevalence of epilepsy was reported (n = 257,892), 18,254 (7%) had co-occurring epilepsy. Intellectual disability/cognitive impairment was the most commonly reported risk factor associated with occurrence of epilepsy in autistic individuals. The evidence supporting other, potentially relevant factors was weak and inconsistent and requires further evaluation. Only 9/53 studies were considered ‘good’ quality.

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