1. Agron AM, Martin A, Gilmore AW. Scene construction and autobiographical memory retrieval in autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2023.

Individuals with autism spectrum disorder (ASD) frequently exhibit difficulties in retrieving autobiographical memories (AMs) of specific events from their life. Such memory deficits are frequently attributed to underlying disruptions in self-referential or social cognition processes. This makes intuitive sense as these are hallmarks of ASD. However, an emerging literature suggests that parallel deficits also exist in ASD individuals’ ability to reconstruct the rich spatial contexts in which events occur. This is a capacity known as scene construction, and in typically developing individuals is considered a core process in retrieving AMs. In this review, we discuss evidence of difficulties with scene construction in ASD, drawing upon experiments that involve AM retrieval, other forms of mental time travel, and spatial navigation. We also highlight aspects of extant data that cannot be accounted for using purely social explanations of memory deficits in ASD. We conclude by identifying key questions raised by our framework and suggest how they might be addressed in future research.

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2. Alaqel SI, Alqahtani AS, Alharbi A, Althobaiti YS, Bamaga AK, Algarni MA, Almrasy AA, Almalki AH. Spectrofluorometric quantitative analysis of aripiprazole based on quenching of natural derived carbon quantum dots in spiked human plasma. Scientific reports. 2023; 13(1): 21048.

Autism spectrum disorder is a significant concern worldwide, particularly in Middle Eastern countries. Aripiprazole, a psychiatric medicine that works as a partial agonist at D(2) receptors, is often used for autism-related behavior issues in children. Monitoring the therapy of aripiprazole could enhance the safety and effectiveness of treatment for autistic individuals. The purpose of this study was to develop a highly sensitive and environmentally friendly method for analysis of aripiprazole in plasma matrix. To achieve this, water-soluble N-carbon quantum dots were produced from a natural green precursor, guava fruit, and used in fluorescence quenching spectroscopy to determine the presence of aripiprazole. The synthesized dots were analyzed and characterized using transmission electron microscopy and Fourier transform infrared spectroscopy, and they showed a strong fluorescence emission peak at 475 nm. The proposed method was validated according to ICH M10 guidelines and was shown to be highly sensitive, allowing for nanoscale determination of aripiprazole in plasma matrix. Additionally, the method was compared to a previously reported spectrophotometric method, and it was found to be more sensitive and consistent with the principles of green analytical chemistry.

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3. Antony N, Roy A, Chakraborty S, Balsavar A, Sahay A, Brar JS, Iyengar S, Bhatia T, Nimgaonkar VL, Deshpande SN. Feasibility and acceptability of the Indian Autism Screening Questionnaire in clinical and community settings. PloS one. 2023; 18(11): e0292544.

We developed and tested the Indian Autism Screening Questionnaire (IASQ), which was reported to be reliable and valid as compared to the Indian Scale for Assessment of Autism (ISAA) and the Childhood Autism Rating Scale -2 (CARS2). The present study describes the feasibility, acceptability, sociodemographic and developmental details of IASQ study participants in 5 settings- a psychiatry outpatients’ clinic (n = 145), a specialised paediatric clinic (n = 24), a speciality disability centre (n = 174), a primary school (n = 41) and a government housing colony (n = 255). The IASQ could be easily administered and understood. Consistent with prior reports, the male-female ratio of participants with autism was 3.8:1. Developmental complications were reported more frequently in clinical settings, while delivery by Caesarean section was commoner among community-dwelling higher socioeconomic status mothers (53% of the officers’ sample). Mothers of participants with autism more frequently reported Caesarean section birth for the proband (χ2 = 41.61, p < .0001) and prenatal and postnatal complications. Binary logistic regression confirmed that perinatal complications in the mother and father's (older) age at birth of the participant were associated with autism. The IASQ is a reliable, practical tool for screening for autism in clinical and non-clinical settings in India.

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4. Bhaskaran AA, Gauvrit T, Vyas Y, Bony G, Ginger M, Frick A. Endogenous noise of neocortical neurons correlates with atypical sensory response variability in the Fmr1(-/y) mouse model of autism. Nature communications. 2023; 14(1): 7905.

Excessive neural variability of sensory responses is a hallmark of atypical sensory processing in autistic individuals with cascading effects on other core autism symptoms but unknown neurobiological substrate. Here, by recording neocortical single neuron activity in a well-established mouse model of Fragile X syndrome and autism, we characterized atypical sensory processing and probed the role of endogenous noise sources in exaggerated response variability in males. The analysis of sensory stimulus evoked activity and spontaneous dynamics, as well as neuronal features, reveals a complex cellular and network phenotype. Neocortical sensory information processing is more variable and temporally imprecise. Increased trial-by-trial and inter-neuronal response variability is strongly related to key endogenous noise features, and may give rise to behavioural sensory responsiveness variability in autism. We provide a novel preclinical framework for understanding the sources of endogenous noise and its contribution to core autism symptoms, and for testing the functional consequences for mechanism-based manipulation of noise.

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5. Bjørklund G, Semenova Y, El-Ansary A, Al-Ayadhi LY. Porphyrinuria in Autism Spectrum Disorder: A Review. Current medicinal chemistry. 2023.

Numerous studies demonstrated that the number of children with autism spectrum disorder (ASD) has increased remarkably in the past decade. A portion of ASD etiology, however, is attributed to environmental issues and genetic disorders. We highlighted a scoping review to principally evaluate the current information on mercury exposure in ASD children and to reveal knowledge gaps. Elevated porphyrins concentration in the urinary system related to mercury exposure, such as precoproporphyrin (prcP), coproporphyrin (cP), and pentacarboxyporphyrin (5cxP), was shown in comparison with controls. Moreover, high levels of urinary porphyrins have been elevated in response to heavy metal exposure. The related pattern (increased prcP, cP, and 5cxP) with Hg exposure may be used as biomarkers in the characteristics of ASD symptoms. However, this review highlighted the data gaps because the control groups were not genderand age-matched for ASD children.

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6. Chen L, Xiong XY, Yao TT, Gui LN, Luo F, Du Y, Cheng Y. Corrigendum to « Blood exosome sensing via neuronal insulin-like growth factor-1 regulates autism-related phenotypes » [Pharmacol. Res. 197 (2023) 106965]. Pharmacological research. 2023: 107014.

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7. Donoso J, Rattray F, de Bildt A, Tillmann J, Williams P, Absoud M, Totsika V. Association of cognitive and adaptive skills with internalizing and externalizing problems in autistic children and adolescents. Autism research : official journal of the International Society for Autism Research. 2023.

The presence of an intellectual disability (ID) alongside autism is considered to increase the risk for mental health and behavior problems in children and adolescents. Existing evidence is restricted by looking at ID as a categorical classification. The study aimed to examine the association of cognitive and adaptive behavior skills with internalizing and externalizing problems in a large sample of autistic children and adolescents, across a wide range of cognitive skills. Participants were 2759 children and adolescents aged between 4 and 18 years recruited as part of the Simons Simplex Collection (SSC), of whom 709 (approximately 25%) had ID. Multiple regression models examined associations of internalizing and externalizing problems with cognitive and adaptive skills (communication, daily living, and socialization skills). Cognitive skills were not associated with externalizing problems but were associated with more internalizing problems in autistic children without ID (Cog β: 0.126). All adaptive skill domains were inversely associated with externalizing (Communication β: -0.145; Daily-Living β: -0.132; Socialization β: -0.289) and internalizing problems (Communication β: -0.074; Daily-Living β: -0.064; Socialization β: -0.213) in those without ID. Daily living (β: -0.158) and socialization skills (β: -0.104) were inversely correlated with externalizing problems in autistic children with ID, while only socialization problems (β: -0.099) were associated with internalizing problems in this group. Socialization skills were systematically associated with internalizing and externalizing problems across all levels of cognitive functioning. Supporting social skills development may benefit all aspects of child mental health, while recognizing that children with higher cognitive skills are more vulnerable to internalizing problems might assist with earlier identification of these problems.

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8. Furqan M. Trofinetide-a new chapter in rett syndrome’s treatment. Frontiers in pharmacology. 2023; 14: 1284035.

Trofinetide is the first drug approved by the FDA to treat Rett Syndrome in children aged 2 years or above. The drug significantly improved Rett syndrome behavioral scores Rett syndrome behavioral questionnaire in clinical studies. Although further research is needed to assess potential adverse events, Trofinetide’s notable efficacy signifies a significant advancement in Rett syndrome treatment, offering a new therapeutic avenue with the potential to ameliorate the condition.

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9. Hua Z, Hu J, Zeng H, Li J, Cao Y, Gan Y. Auditory language comprehension among children and adolescents with autism spectrum disorder: An ALE meta-analysis of fMRI studies. Autism research : official journal of the International Society for Autism Research. 2023.

Difficulties in auditory language comprehension are common among children and adolescents with autism spectrum disorder. However, findings regarding the underlying neural mechanisms remain mixed, and few studies have systematically explored the overall patterns of these findings. Therefore, this study aims to systematically review and meta-analyze the functional magnetic resonance imaging evidence of neural activation patterns while engaging in auditory language comprehension tasks among children and adolescents with autism. Using activation likelihood estimation, we conducted a series of meta-analyses to investigate neural activation patterns during auditory language comprehension tasks compared to baseline conditions in autism and non-autism groups and compared the activation patterns of the groups, respectively. Eight studies were included in the within-group analyses, and seven were included in the between-group analysis. The within-group analyses revealed that the bilateral superior temporal gyrus was activated during auditory language comprehension tasks in both groups, whereas the left superior frontal gyrus and dorsal medial prefrontal cortex were activated only in the non-autism group. Furthermore, the between-group analysis showed that children and adolescents with autism, compared to those without autism, showed reduced activation in the right superior temporal gyrus, left middle temporal gyrus, and insula, whereas the autism group did not show increased activation in any of the regions relative to the non-autism group. Overall, these findings contribute to our understanding of the potential neural mechanisms underlying difficulties in auditory language comprehension in children and adolescents with autism and provide practical implications for early screening and language-related interventions for children and adolescents with autism.

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10. Indika NR, Senarathne UD, Malvaso A, Darshana D, Owens SC, Mansouri B, Semenova Y, Bjørklund G. Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications. Molecular neurobiology. 2023.

Autism spectrum disorder (ASD) is a mosaic of neurodevelopmental conditions composed of early-onset social interaction and communication deficits, along with repetitive and/or restricted patterns of activities, behavior, and interests. ASD affects around 1% of children worldwide, with a male predominance. Energy, porphyrin, and neurotransmitter homeostasis are the key metabolic pathways affected by heavy metal exposure, potentially implicated in the pathogenesis of ASD. Exposure to heavy metals can lead to an altered porphyrin metabolism due to enzyme inhibition by heavy metals. Heavy metal exposure, inborn genetic susceptibility, and abnormal thiol and selenol metabolism may play a significant role in the urinary porphyrin profile anomalies observed in ASD. Altered porphyrin metabolism in ASD may also be associated with, vitamin B6 deficiency, hyperoxalemia, hyperhomocysteinemia, and hypomagnesemia. The present review considers the abnormal porphyrin metabolism in ASD in relation to the potential pathogenic mechanism and discusses the possible metabolic therapies such as vitamins, minerals, cofactors, and antioxidants that need to be explored in future research. Such targeted therapeutic therapies would bring about favorable outcomes such as improvements in core and co-occurring symptoms.

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11. Ishikawa M, Yamamoto Y, Wulaer B, Kunisawa K, Fujigaki H, Ando T, Kimura H, Kushima I, Arioka Y, Torii Y, Mouri A, Ozaki N, Nabeshima T, Saito K. Indoleamine 2,3-dioxygenase 2 deficiency associates with autism-like behavior via dopaminergic neuronal dysfunction. The FEBS journal. 2023.

Indoleamine 2,3-dioxygenase 2 (IDO2) is an enzyme of the tryptophan-kynurenine pathway that is constitutively expressed in the brain. To provide insight into the physiological role of IDO2 in the brain, behavioral and neurochemical analyses in IDO2 knockout (KO) mice were performed. IDO2 KO mice showed stereotyped behavior, restricted interest and social deficits, traits that are associated with behavioral endophenotypes of autism spectrum disorder (ASD). IDO2 was colocalized immunohistochemically with tyrosine-hydroxylase-positive cells in dopaminergic neurons. In the striatum and amygdala of IDO2 KO mice, decreased dopamine turnover was associated with increased α-synuclein level. Correspondingly, levels of downstream dopamine D1 receptor signaling molecules such as brain-derived neurotrophic factor and c-Fos positive proteins were decreased. Furthermore, decreased abundance of ramified-type microglia resulted in increased dendritic spine density in the striatum of IDO2 KO mice. Both chemogenetic activation of dopaminergic neurons and treatment with methylphenidate, a dopamine reuptake inhibitor, ameliorated the ASD-like behavior of IDO2 KO mice. Sequencing analysis of exon regions in IDO2 from 309 ASD samples identified a rare canonical splice site variant in one ASD case. These results suggest that the IDO2 gene is, at least in part, a factor closely related to the development of psychiatric disorders.

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12. Karadogan ZN, Tanir Y, Karayagmurlu A, Kucukgergin C, Coskun M. Higher Levels of Galectin-1 and Galectin-3 in Young Subjects with Autism Spectrum Disorder Compared to Unaffected Siblings and Healthy Controls. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology. 2023; 21(4): 749-57.

OBJECTIVE: : Despite being highly genetic, the etiology of autism spectrum disorder (ASD), has not yet been clarified. Recent research has focused on the role of neuroinflammation and immune system dysfunction in the pathophysiology of neurodevelopmental disorders including ASD. Galectin-1 and galactin-3 are considered among the biomarkers of neuroinflammation and there has been recent reports on the potential role of galectins in the etiology of neurodevelopmental disorders. However, there has been no study examining the relationship between ASD and galectin levels. METHODS: : Current study aimed to investigate galectin-1 and galectin-3 serum levels in young subjects with ASD comparing with their unaffected siblings and healthy controls. RESULTS: : We found significantly higher levels of galectin-1 in case group compared to both unaffected siblings and healthy controls, and higher levels of galectin-3 in case group compared to healthy controls. However, there was no significant association between galectin-1 and galectin-3 levels with the severity of ASD. CONCLUSION: : Findings of our study may support neuroinflammation hypothesis in the etiology of ASD and the potential role of galectin-1 and galectin-3 as biomarkers.

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13. Kasole Lubala T, Kayembe-Kitenge T, Lubala N, Kanteng G, Luboya O, Hagerman R, Lukusa-Tshilobo P, Lumaka A. Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families. Clinical dysmorphology. 2023.

This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14-38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ranging from mild (IQ 50-70) to moderate (IQ 35-49) intellectual disability (Average IQ of 60). All our female patients have ID.

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14. Kauling RM, Pelosi C, Cuypers J, van den Bosch AE, Hirsch A, Carvalho JG, Bowen DJ, Kardys I, Bogers A, Helbing WA, Roos-Hesselink JW. Long term outcome after surgical ASD-closure at young age: Longitudinal follow-up up to 50 years after surgery. International journal of cardiology. 2023: 131616.

OBJECTIVES: To describe the clinical outcome and quality of life up to 50 years after surgical atrial septal defect (ASD) closure at young age. Primary outcome is defined as MACE (all-cause mortality, cardiac re-interventions, ischemic stroke, endocarditis, heart failure and symptomatic arrhythmia). METHODS: Single-center, longitudinal cohort-study evaluating 135 consecutive patients who underwent ASD-closure before the age of 15 years between 1968 and 1980. Participants were invited for extensive cardiac evaluation and assessment of quality-of-life every 10 years. RESULTS: Eighty patients (86%) of 93 eligible survivors were included in this study (mean age 52 ± 5 years (range 41-63), 40% male). Median follow-up since surgery was 45 years (range 40-51). Cumulative survival after 50 years was 86% and comparable to the normal Dutch population. Cumulative event-free survival after 45 and 50-years was 59% and 46% respectively (re-intervention in 6, symptomatic arrhythmia in 25, and pacemaker implantation in 10 patients). Right ventricular ejection fraction on CMR was diminished in 6%. Exercise capacity was normal in 77%. There was no pulmonary hypertension. NT-proBNP was elevated in 61%. Quality of life was comparable with the general population. No predictors for late events were identified. CONCLUSION: Long-term survival after surgical ASD-closure in childhood is good and not statistically different at 50 years compared to the normal Dutch population. Re-intervention rate is low, there is no pulmonary hypertension. Right ventricular function was diminished in 6%, exercise capacity was good and stable over time with quality of life comparable to the general population. However, supraventricular tachycardia is common.

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15. Leaver L, Cubbin S, Parry A. Supporting adults with autism – don’t forget comorbid ADHD. The British journal of general practice : the journal of the Royal College of General Practitioners. 2023; 73(737): 540-1.

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16. Lin W, Chan YH, Kiing JSH, Lim TSH, Chong SC, Kang YQ, Aishworiya R, Mulay KV, Tan MY. Restricted and repetitive behaviors and association with cognition and adaptive functioning in children with autism spectrum disorder in Singapore. Frontiers in psychiatry. 2023; 14: 1249071.

BACKGROUND: One of the core features of autism spectrum disorder (ASD) is restricted, repetitive patterns of behavior, interests and activities (RRBs). RRBs are known to adversely affect cognition and adaptive functioning. We explored the relationship of RRBs with cognition and adaptive functioning in children with ASD in an Asian setting. METHODS: This cross-sectional study was conducted at a tertiary developmental pediatrics center in Singapore from September 2019 to October 2021. Parent-child dyads (parents and their children ≤7 years old diagnosed with ASD) were recruited. Parents completed the Repetitive Behavior Questionnaire-2 (RBQ-2), which reports total score and two subscales – Motor/Sensory Behaviors (RBQ-2 MS) and Rigidity/Routines/Preoccupation with Restricted Interests (RBQ-2 RRPRI). Standardized assessments included Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS-II). Data analysis utilized descriptive statistics and Pearson’s correlation. RESULTS: Parents of 113 children [75.2% male, mean (SD) age 5.0 (1.2) years] participated. Median (IQR) RBQ-2 score was 29.0 (11.0). Significant negative correlations (adjusted for age, gender and family history of ASD) were observed for total RBQ-2 scores with MSEL ELC scores (r = -0.248, n = 101, p = 0.014) and VABS-II ABC scores (r = -0.281, n = 88, p = 0.009). Specifically, these correlations of fair strength were seen only with the RBQ-2 MS subscale for both ELC (r = -0.321, n = 101, p = 0.001) and ABC (r = -0.3478, n = 88, p = 0.001). CONCLUSION: In children with ASD, severity of RRBs correlated with adverse cognition and adaptive functioning measures in our study, consistent with Western literature. While our study does not show causality, it adds to literature serving as a foundation for further research for both clinicians and researchers to target RRBs in improving outcomes with children in ASD.

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17. Longo R, Allegrini F, Gusson E, Morbio R, Di Gennaro G, Gozzi LA, Marchini G, Zoccante L. Visual-motor involvement in autism spectrum disorder: could the stereopsis deficit affect motor coordination?. Frontiers in psychiatry. 2023; 14: 1130185.

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18. Milner V, Colvert E, Hull L, Cook J, Ali D, Mandy W, Happé F. Does camouflaging predict age at autism diagnosis? A comparison of autistic men and women. Autism research : official journal of the International Society for Autism Research. 2023.

It is frequently reported that females are likely to receive an autism diagnosis at a later age than their male counterparts, despite similar levels of autistic traits. It has been suggested that this delay in diagnosis may in part reflect the propensity of females, more than males, to engage in camouflaging behaviors that reduce the appearance of autism-related traits. This article presents two studies which examined the relationship between gender/sex, camouflaging, and age at diagnosis in two samples of (cis-gender) autistic adults. Study 1 included data from three online samples including 242 autistic men and 570 autistic women aged 18-75 years. Study 2 included data from a longitudinal population-based sample including 24 autistic men and 35 autistic women aged 20-24 years. Camouflaging was measured with the self-report Camouflaging Autistic Traits Questionnaire (CAT-Q). Overall, the results showed that, on average, females were diagnosed later than males. There was a stronger relationship between camouflaging and age at autism diagnosis (AaD) for females, compared with males. Within sample one, there was a significant camouflaging-by-sex interaction; high-camouflaging females had a later AaD. The role of autistic traits and changes in attitudes towards female autism and camouflaging need further exploration. These findings highlight the need for greater clinician and key stakeholder awareness and understanding of camouflaging behavior, particularly for females, during the diagnostic process.

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19. Pastore I, Bedin E, Marzari G, Bassi F, Gallo C, Mucignat-Caretta C. Behavioral guidance for improving dental care in autistic spectrum disorders. Frontiers in psychiatry. 2023; 14: 1272638.

INTRODUCTION: Autism spectrum disorders (ASDs) impair many aspects of everyday life and may prevent access to dental care, often limiting it to emergencies. Impaired oral health has long-lasting negative consequences on health status and on the acquisition of oral habits (e.g., oral respiration and grinding) or competencies (e.g., proper speech production). Children with ASD may be scared in the dental setting, which is rich in sensory stimuli and requires physical contact. Due to their behavioral manifestations, they represent a challenge for dentists and hygienists. We created a dedicated pathway with behavioral support for children with ASD to allow dental care and possibly limit the use of general anesthesia. METHODS: We evaluated the effects of behavioral support in a quasi-experimental design by comparing two groups of children with ASD. The first group (n = 84) was visited every 2 months for 3 years and received additional support (visual aids, caregiver training, and longer visit duration). A control group, matched for age and sex, was visited at least twice a year or more, if needed, according to standard healthcare guidelines. RESULTS: Compliance with the schedule was high throughout the 3 years. The degree of collaboration significantly improved after 1 year in the supported group, while the control group did not change. At the end of the study, collaboration remained significantly higher than at the beginning in the supported group. Half of dental treatments were possible without general anesthesia in supported children. No adverse effect was apparent on collaboration due to COVID-19 restrictions. DISCUSSION: Behavioral techniques improved the compliance of ASD children to regular dentistry visits and treatment. Furthermore, oral hygiene at home was similarly improved, addressing oral health from a lifelong perspective.

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20. Patil O, Kaple M. Sensory Processing Differences in Individuals With Autism Spectrum Disorder: A Narrative Review of Underlying Mechanisms and Sensory-Based Interventions. Cureus. 2023; 15(10): e48020.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties with social interaction and restricted, repetitive patterns of behavior. Altered sensory processing and perception are considered characteristics of ASD. Sensory processing differences (SPDs) are commonly observed in individuals with ASD, leading to atypical responses to sensory stimuli. SPDs refer to the way in which individuals receive, process, and respond to sensory information from the environment. People with SPDs may be hypersensitive (over-reactive) or hyposensitive (under-reactive) to sensory input, or they may experience fragmented or distorted perceptions. These differences can make it difficult for individuals with SPDs to filter out irrelevant sensory information, and to integrate sensory information from different sources. This study intends to investigate the underlying mechanisms contributing to SPDs in individuals with autism and determine the effectiveness of sensory-based therapies in addressing these challenges. The literature suggests that altered neural pathways, sensory gating dysfunction, and atypical sensory modulation contribute to SPDs in individuals with ASD. Assistive technology, environmental changes, and sensory-based interventions like sensory integration therapy (SIT) have all shown promise in improving sensory functioning and reducing associated behavioral issues. However, further research is needed to improve our understanding of sensory processing in autism and to optimize interventions for individuals with ASD.

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21. Pearson DA, Hendren RL, Heil MF, McIntyre WR, Raines SR. Pancreatic Replacement Therapy for Maladaptive Behaviors in Preschool Children With Autism Spectrum Disorder. JAMA network open. 2023; 6(11): e2344136.

IMPORTANCE: There is an urgent unmet need for a treatment addressing the core symptoms and associated maladaptive symptoms of autism spectrum disorder (ASD), especially in preschool populations. OBJECTIVES: To evaluate whether treatment of children with ASD aged 3 to 6 years treated with high-protease pancreatic therapy produces long- and short-term improvements in autism-associated maladaptive behaviors. DESIGN, SETTING, AND PARTICIPANTS: This cohort study at 32 sites across the US used a double-blind parallel group, delayed-start design comprising a 2-week blinded placebo run-in, and a double-blind, randomized, placebo-controlled segment (12 weeks). Children were recruited into the study in 2015, with data collection continuing until 2021. The analyses were completed from June 2021 to February 2022. INTERVENTIONS: All participants were randomly assigned to receive either 900 mg high-protease pancreatic replacement therapy or placebo with food 3 times a day for 12 weeks, followed by all receiving 900 mg high-protease pancreatic replacement therapy for 24 weeks. MAIN OUTCOMES AND MEASURES: The primary outcome was the irritability/agitation subscale of the Aberrant Behavior Checklist (ABC-I). All potential participants were screened using the Social Communication Questionnaire (SCQ) with diagnosis confirmed by the Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition, Text Revision) for ASD and the Autism Diagnostic Inventory-Revised (ADI-R). Outcomes were measured at the conclusion of the 12-week double-blind segment and at the conclusion of the 24-week open-label segment (total 36 weeks). RESULTS: A total of 190 participants (150 male [79%]), aged 3 to 6 (mean [SD] age, 4.5 [0.8]) years were randomized. Mixed model for repeated measures analysis performed on ABC-I demonstrated statistically significant differences of -2.49 (95% CI, -4.66 to -0.32; Cohen d = 0.364; P = .03) at the 12-week timepoint and -3.07 (95% CI, -5.81 to -0.33; Cohen d = 0.516; P = .03) at 36-week timepoint. No convergence was noted. Our high-protease pancreatic replacement (CM-AT) was well tolerated with no emergent safety concerns or related serious adverse events noted. CONCLUSIONS AND RELEVANCE: This cohort study of preschool children sustained cumulative reduction in the maladaptive behavior of irritability in autism. This delayed-start analysis, used to demonstrate disease and condition modification, may prove to be an important tool to evaluate treatments for ASD. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02410902 and NCT02649959.

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22. Poole C, Hill J, Harrison J, Doherty A. Barriers and facilitators faced by individuals with intellectual disabilities and/or autism when accessing primary healthcare. British journal of neuroscience nursing. 2022; 18(6): 268.

Individuals with intellectual disability and/or autism spectrum disorder experience healthcare inequalities and have more unmet healthcare needs than the general population. Despite this, there is a sparsity of literature exploring the views of individuals with autism spectrum disorder or intellectual disability. This article summarises and evaluates an integrated review that explores the barriers and facilitators those with intellectual disability and/or autism spectrum disorder face when accessing primary healthcare.

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23. Pua EPK, Desai T, Green C, Trevis K, Brown N, Delatycki M, Scheffer I, Wilson S. Endophenotyping social cognition in the broader autism phenotype. Autism research : official journal of the International Society for Autism Research. 2023.

Relatives of individuals with autism spectrum disorder (ASD) may display milder social traits of the broader autism phenotype (BAP) providing potential endophenotypic markers of genetic risk for ASD. We performed a case-control comparison to quantify social cognition and pragmatic language difficulties in the BAP (n = 25 cases; n = 33 controls) using the Faux Pas test (FPT) and the Goldman-Eisler Cartoon task. Using deep phenotyping we then examined patterns of inheritance of social cognition in two large multiplex families and the spectrum of performance in 32 additional families (159 members; n = 51 ASD, n = 87 BAP, n = 21 unaffected). BAP individuals showed significantly poorer FPT performance and reduced verbal fluency with the absence of a compression effect in social discourse compared to controls. In multiplex families, we observed reduced FPT performance in 89% of autistic family members, 63% of BAP relatives and 50% of unaffected relatives. Across all affected families, there was a graded spectrum of difficulties, with ASD individuals showing the most severe FPT difficulties, followed by the BAP and unaffected relatives compared to community controls. We conclude that relatives of probands show an inherited pattern of graded difficulties in social cognition with atypical faux pas detection in social discourse providing a novel candidate endophenotype for ASD.

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24. Ren M, Zheng H, Lu X, Lian W, Feng B. Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants. Gene. 2023; 886: 147777.

BACKGROUND: The TBL1XR1 gene encodes the protein transducin-beta-like 1 receptor1, widely distributed in the pituitary, hypothalamus, white and brown adipose tissue, muscle, and liver. Current evidence suggests that heterozygous TBL1XR1 pathogenic variants can lead to a wide spectrum of phenotypes. This study aims to reveal the clinical phenotype and genetic profiles of de novo TBL1XR1 variations and summarize the relevant clinical and genetic features. METHODS: We analyzed four new cases harboring de novo TBL1XR1 variants and reviewed all reported cases. RESULTS: All probands suffered from global developmental delay. Moreover, patient 1 exhibited susceptibility to startle, patient 2 had hypovitaminosis D, short stature and hyponatremia, and patients 3 and 4 both presented with ASD (Autism spectrum disorder) and short stature. They all had a de novo TBL1XR1 variant (NM_024665.7), c.1184A > G (p.Tyr395Cys), c.1108G > A (p.Asp370Asn), c.1047 + 1G > C, and c.1097C > T (p.Ser366Phe) respectively. In addition, pooled analysis of 51 cases showed that they had speech impairment (38/39), intellectual developmental disorder (28/28), global developmental delay (42/42), and hypotonia (24/27), and some of them had epilepsy (10/22), ASD (13/25), and developmental regression (4/13). CONCLUSIONS: We report four new patients with de novo TBL1XR1 variants and provide a comprehensive overview of 47 previously reported individuals with TBL1XR1 variants, enriching the genotypic and phenotypic spectrum of TBL1XR1-related disease. This report further validates the pathogenicity de novo TBL1XR1 variants.

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25. Vinçon-Leite A, Saitovitch A, Lemaître H, Rechtman E, Boisgontier J, Fillon L, Philippe A, Rio M, Desguerre I, Fabre A, Aljabali K, Boddaert N, Zilbovicius M. Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI). Cerebral cortex (New York, NY : 1991). 2023.

Even though deficits in social cognition constitute a core characteristic of autism spectrum disorders, a large heterogeneity exists regarding individual social performances and its neural basis remains poorly investigated. Here, we used eye-tracking to objectively measure interindividual variability in social perception and its correlation with white matter microstructure, measured with diffusion tensor imaging MRI, in 25 children with autism spectrum disorder (8.5 ± 3.8 years). Beyond confirming deficits in social perception in participants with autism spectrum disorder compared 24 typically developing controls (10.5 ± 2.9 years), results revealed a large interindividual variability of such behavior among individuals with autism spectrum disorder. Whole-brain analysis showed in both autism spectrum disorder and typically developing groups a positive correlation between number of fixations to the eyes and fractional anisotropy values mainly in right and left superior longitudinal tracts. In children with autism spectrum disorder a correlation was also observed in right and left inferior longitudinal tracts. Importantly, a significant interaction between group and number of fixations to the eyes was observed within the anterior portion of the right inferior longitudinal fasciculus, mainly in the right anterior temporal region. This additional correlation in a supplementary region suggests the existence of a compensatory brain mechanism, which may support enhanced performance in social perception among children with autism spectrum disorder.

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26. West MJ, Somer E, Eigsti IM. Immersive and maladaptive daydreaming and divergent thinking in autism spectrum disorders. Imagination, cognition and personality. 2023; 42(4): 372-98.

Little is known about the internal mental experiences of individuals with ASD. While some research suggests a limited capacity for imagination, other studies show heightened interest in fantasy and unique forms of creative thinking in ASD. This study explored daydreaming experiences in adults with ASD, with a focus on immersive daydreaming and its relation to divergent thinking abilities. Individuals with and without a diagnosis of ASD were surveyed on their daydreaming habits and completed a divergent thinking task. Experiences of immersive daydreaming were identified in 42% of adults with ASD and were related to broad ASD traits in those without a diagnosis of ASD. However, ASD diagnosis was unrelated to originality of divergent thinking, which was negatively associated with immersive daydreaming. Moreover, daydreaming experiences in ASD were diverse. A more nuanced understanding of the mental experiences in ASD may assist in the development of interventions and support for this population.

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27. Yang X, Crehan ET. Understanding the experiences and needs in autism education: A semi-structured interview among Chinese American parents of autistic children. Autism & developmental language impairments. 2023; 8: 23969415231217191.

BACKGROUND AND AIMS: The diversity of the autistic population seeking professional services and education in the United States has increased. As the diagnosis of autism increases among the Chinese American immigrant population, there is also an increasing need to learn about this population and provide appropriate intervention and education for this group. However, current education and intervention provided for autistic individuals tend to be culturally blind. Gaps were found in our understanding of the cultural context and its relationship with the education mechanisms among Chinese American autistic families. The current study intends to investigate how Chinese American parents perceive the education materials and intervention strategies received by their autistic children as well as their experiences and needs in the education process. METHOD: Semi-structured interviews were conducted among 10 Chinese American parents (one father and nine mothers) online. They all had children who had a formal diagnosis of autism spectrum disorder and received some intervention or education. Thematic analysis was used to analyse the results. RESULTS: The study suggested that most Chinese American parents were satisfied with the current education materials and intervention strategies provided to their autistic children. Due to cultural-related stigma, parents differ in their perceptions of children’s autism diagnosis and characteristics as well as their expectations of children’s culturally sensitive education. A theoretical model was created to provide culture-centered interpretation of the interconnected relationship between their pre- and post-immigration contexts and parenting attitudes. CONCLUSIONS: Culture plays a critical role in understanding Chinese American parents’ experiences, needs, and expectations of culturally sensitive education for their autistic children. Interconnected relationships were found between contexts and parenting attitudes, which were largely influenced by cultural-related stigma. IMPLICATIONS: Suggestions and implications were provided for institutions and professionals working with Chinese American families and children. It is critical for them to learn about the experiences, needs, and attitudes of Chinese American parents to provide Chinese American autistic children with more appropriate and culturally sensitive education.

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28. Yeung TS, Greene RK, Dick CC, Duvall SW. Females evaluated for autism: characteristics and co-occurring and differential DSM-5 diagnoses. The Clinical neuropsychologist. 2023: 1-20.

Objective: While sex differences in autism spectrum disorder (ASD) have been identified in areas such as neurocognitive functioning, behavior patterns, and diagnostic criteria, less work has focused on differences within females referred for ASD evaluation, including those who did not go on to receive a diagnosis. This study examined psychological and behavioral characteristics and co-occurring and differential DSM-5 diagnoses between pediatric female participants who received an ASD diagnosis (ASD+) and those who did not (ASD-). Method: Data on cognitive functioning, adaptive functioning, internalizing symptoms, externalizing symptoms, and ADOS-2 scores were analyzed among 137 3- to 20-year-old patients. The sample was divided into two age groups (ages 3-8 and ages 9-20) for analyses of between-group differences (ASD+ vs. ASD-) and predictors of group membership. Results: Females in the ASD+ group were significantly younger, had lower cognitive scores, lower internalizing and externalizing symptoms, and had higher Autism Diagnostic Observation Schedule-2 (ADOS-2) scores than those in the ASD- group. ADOS-2 scores were also the only significant predictor of ASD group membership across age groups. The ASD+ group had a higher percentage of intellectual disability while the ASD- group had higher percentages of anxiety disorder, attention-deficit/hyperactivity disorder, and disruptive behavior disorders. Conclusions: Psychological and behavioral presentations among females referred for ASD evaluation varied with age and ASD diagnostic groups. These results highlight potential female differences in ASD referrals and identification of ASD and the need to improve care for females in consideration of demographic factors.

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29. Yuan QF, Wu HY, Chen XY, Zheng YM, Fu SL, Wang XH, Zhu JW, Guo JD, He XX, Wu LH. Colonic Endoscopic Tubing Is Safe and Effective Approach for Washed Microbiota Transplantation in Autistic Children. Gastroenterology research and practice. 2023; 2023: 7838601.

BACKGROUND: Washed microbiota transplantation (WMT) as the improved methods of fecal microbiota transplantation has been employed as a therapeutic approach for ameliorating symptoms associated with autism spectrum disorder (ASD). In this context, colonic transendoscopic enteral tubing (TET) has been utilized as a novel procedure for administering WMT. METHODS: Data of children with ASD who received WMT by TET were retrospectively reviewed, including bowel preparation methods, TET operation time, success rate, tube retention time, the comfort of children, adverse events, and parent satisfaction. RESULTS: A total of 38 participants underwent 124 colonic TET catheterization procedures. The average time of TET operation was 15 minutes, and the success rate was 100% (124/124). There was no significant difference in TET operation time between high-seniority physicians and low-seniority physicians. In 123 procedures (99%), the TET tube allowed the completion of WMT treatment for 6 consecutive days. In 118 procedures (95.2%), the tube was detached spontaneously after the end of the treatment course, and the average TET tube retention time was 8 days. There was no incidence of tube blockage during the treatment course. No severe adverse events occurred during follow-up. Parents of all participants reported a high level of satisfaction with TET. CONCLUSION: Colonic TET is a safe and feasible method for WMT in children with ASD.

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