Pubmed du 22/03/23

Pubmed du jour

1. Adak P, Banerjee N, Sinha S, Bandyopadhyay AK. Gamma-Aminobutyric Acid Type A Receptor Variants are Associated with Autism Spectrum Disorders. J Mol Neurosci;2023 (Mar 21)

Despite several efforts to identify the causes of autism spectrum disorders (ASD), its etiology remains still unclear. Among other aspects, genes that encode neurotransmitter receptors are strong candidates for autism. Here, we wanted to study some genetic variants of gamma-aminobutyric acid (GABA) receptor subunit genes GABRB3, GABRG3, and GABRA5, located on chromosome 15q11-q13 that might contribute to the etiology of ASD in the affected children of West Bengal. rs7180158, rs2081648 (GABRB3); rs12910555 (GABRG3); rs35399885, rs35832850 (GABRA5) were analyzed in 316 children with ASD and 227 healthy controls. Phenotypic associations were evaluated by Childhood Autism Rating Scale (CARS). Gene expression levels were measured by quantitative real-time PCR. ASD probands showed a higher frequency of « A » allele for rs7180158, « G » allele for rs12901555, and « T » allele for rs35399885. The GA + AA genotypes (rs7180158) and CT + TT genotypes (rs35399885) were found to confer significant risk towards ASD. rs2081648 was found to have transmission bias in the family. Additionally, these variants were found to be associated with one or more of ASD-associated phenotypic traits. Multifactor dimensionality reduction (MDR) analyses showed mostly independent contributory effects of some of the variants. Again, the gene expression levels of GABRB3, GABRG3, and GABRA5 were downregulated in the cases than the controls. ForGABRA5 rs35399885, the CC genotypes corresponded to higher expression levels compared to the other groups. This study reveals that genetic variants of GABA(A) receptor subunit genes are significantly associated with ASD. No data for the mentioned variants are found in the population of West Bengal, India.

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2. Alshamrani AA, Alshehri S, Alqarni SS, Ahmad SF, Alghibiwi H, Al-Harbi NO, Alqarni SA, Al-Ayadhi LY, Attia SM, Alfardan AS, Bakheet SA, Nadeem A. DNA Hypomethylation Is Associated with Increased Inflammation in Peripheral Blood Neutrophils of Children with Autism Spectrum Disorder: Understanding the Role of Ubiquitous Pollutant Di(2-ethylhexyl) Phthalate. Metabolites;2023 (Mar 22);13(3)

Autism spectrum disorder (ASD) is a multidimensional disorder in which environmental, immune, and genetic factors act in concert to play a crucial role. ASD is characterized by social interaction/communication impairments and stereotypical behavioral patterns. Epigenetic modifications are known to regulate genetic expression through various mechanisms. One such mechanism is DNA methylation, which is regulated by DNA methyltransferases (DNMTs). DNMT transfers methyl groups onto the fifth carbon atom of the cytosine nucleotide, thus converting it into 5-methylcytosine (5mC) in the promoter region of the DNA. Disruptions in methylation patterns of DNA are usually associated with modulation of genetic expression. Environmental pollutants such as the plasticizer Di(2-ethylhexyl) phthalate (DEHP) have been reported to affect epigenetic mechanisms; however, whether DEHP modulates DNMT1 expression, DNA methylation, and inflammatory mediators in the neutrophils of ASD subjects has not previously been investigated. Hence, this investigation focused on the role of DNMT1 and overall DNA methylation in relation to inflammatory mediators (CCR2, MCP-1) in the neutrophils of children with ASD and typically developing healthy children (TDC). Further, the effect of DEHP on overall DNA methylation, DNMT1, CCR2, and MCP-1 in the neutrophils was explored. Our results show that the neutrophils of ASD subjects have diminished DNMT1 expression, which is associated with hypomethylation of DNA and increased inflammatory mediators such as CCR2 and MCP-1. DEHP further causes downregulation of DNMT1 expression in the neutrophils of ASD subjects, probably through oxidative inflammation, as antioxidant treatment led to reversal of a DEHP-induced reduction in DNMT1. These data highlight the importance of the environmental pollutant DEHP in the modification of epigenetic machinery such as DNA methylation in the neutrophils of ASD subjects.

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3. Ashburner J, Tomkins V, Bobir N, Jones J, Smith D, Hautsalo J, Swift E. Co-Design and Co-Production of a Goal Setting Tool for Autistic Adolescents and Adults. Autism Adulthood;2023 (Mar 1);5(1):37-50.

BACKGROUND: A review of existing tools suggested a need for a goal setting tool for autistic people that (1) addresses the heterogeneity of autistic people to the greatest degree possible; (2) addresses a broad range of goals in areas including self-care and home living, and social, community, educational, and employment participation; (3) incorporates autism-specific adaptations such as visual supports; (4) facilitates the initial identification of goals; and (5) enables the prioritization of goals. AIM: This project aimed to develop a picture-based card-sort goal setting tool with relevant and comprehensible goal cards using a co-design and co-production process. METHODS: The first three of four phases of participatory action research (PAR) used to develop the tool are presented, including (1) initial design by autistic people and professional practitioners, and co-production with an autistic graphic designer; (2) survey of 15 autistic people and 11 family members to evaluate and refine the goals, pictures, and wording; (3) second survey of 23 autistic people and 19 family members to re-evaluate and re-refine the goals, pictures, and wording. RESULTS: Responses to open-ended survey questions recommended changing many of the pictures and some of the words on the goal cards. As the majority of respondents rated each of the 72 goals as important, they were all retained. The mean percentage approval of the pictures improved from 78% for survey 1 to 86% for survey 2. The mean percentage approval of the wording improved from 87% for survey 1 to 97% for survey 2. CONCLUSIONS: The use of a co-design and co-production methodology over three phases of PAR involving autistic people and their families resulted in many refinements to the goal cards. These iterations in the design process maximized the extent to which the goal cards are easily understood and relevant to the needs of autistic people.

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4. Bulkley JE, Varga AM, Dickerson JF, Crawford P, Croen LA, Daida YG, Fombonne E, Hatch B, Lee A, Massolo M, Vaughn K, Lynch FL. A framework for measuring the cost to families of caring for children’s health: the design, methodology, and study population of the r-Kids study. BMC Pediatr;2023 (Mar 20);23(1):128.

BACKGROUND: All families experience financial and time costs related to caring for their children’s health. Understanding the economic burden faced by families of children with chronic health conditions (CHC) is crucial for designing effective policies to support families. METHODS: In this prospective study we used electronic health records to identify children between 3 and 17 years old with autism spectrum disorder (ASD), asthma, or neither (control) from three Kaiser Permanente regions and several community health centers in the OCHIN network. We oversampled children from racial and ethnic minority groups. Parent/guardian respondents completed surveys three times, approximately four months apart. The surveys included the Family Economic Impact Inventory (measuring financial, time, and employment costs of caring for a child’s health), and standardized measures of children’s quality of life, behavioral problems, and symptom severity for children with ASD or asthma. We also assessed parenting stress and parent physical and mental health. All materials were provided in English and Spanish. RESULTS: Of the 1,461 families that enrolled (564 ASD, 468 asthma, 429 control), children were predominantly male (79%), with a mean age of 9.0 years, and racially and ethnically diverse (43% non-Hispanic white; 22% Hispanic; 35% Asian, Black, Native Hawaiian, or another race/ethnicity). The majority of survey respondents were female (86%), had a college degree (62%), and were married/partnered (79%). ASD group respondents were less likely to be employed (73%) than those in the asthma or control groups (both 80%; p = .023). Only 32% of the control group reported a household income ≤ $4,000/month compared with 41% of asthma and 38% of ASD families (p = .006). CONCLUSIONS: Utilizing a novel measure assessing family economic burden, we successfully collected survey responses from a large and diverse sample of families. Drawing upon the conceptual framework, survey measures, and self-report data described herein we will conduct future analyses to examine the economic burdens related to CHC and the incremental differences in these burdens between health groups. This information will help policy makers to design more equitable health and social policies that could reduce the burden on families.

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5. Butler MI, Bastiaanssen TFS, Long-Smith C, Morkl S, Berding K, Ritz NL, Strain C, Patangia D, Patel S, Stanton C, O’Mahony SM, Cryan JF, Clarke G, Dinan TG. The gut microbiome in social anxiety disorder: evidence of altered composition and function. Transl Psychiatry;2023 (Mar 20);13(1):95.

The microbiome-gut-brain axis plays a role in anxiety, the stress response and social development, and is of growing interest in neuropsychiatric conditions. The gut microbiota shows compositional alterations in a variety of psychiatric disorders including depression, generalised anxiety disorder (GAD), autism spectrum disorder (ASD) and schizophrenia but studies investigating the gut microbiome in social anxiety disorder (SAD) are very limited. Using whole-genome shotgun analysis of 49 faecal samples (31 cases and 18 sex- and age-matched controls), we analysed compositional and functional differences in the gut microbiome of patients with SAD in comparison to healthy controls. Overall microbiota composition, as measured by beta-diversity, was found to be different between the SAD and control groups and several taxonomic differences were seen at a genus- and species-level. The relative abundance of the genera Anaeromassillibacillus and Gordonibacter were elevated in SAD, while Parasuterella was enriched in healthy controls. At a species-level, Anaeromassilibacillus sp An250 was found to be more abundant in SAD patients while Parasutterella excrementihominis was higher in controls. No differences were seen in alpha diversity. In relation to functional differences, the gut metabolic module ‘aspartate degradation I’ was elevated in SAD patients. In conclusion, the gut microbiome of patients with SAD differs in composition and function to that of healthy controls. Larger, longitudinal studies are warranted to validate these preliminary results and explore the clinical implications of these microbiome changes.

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6. Dossaji Z, Khattak A, Tun KM, Hsu M, Batra K, Hong AS. Efficacy of Fecal Microbiota Transplant on Behavioral and Gastrointestinal Symptoms in Pediatric Autism: A Systematic Review. Microorganisms;2023 (Mar 22);11(3)

Background and Aims: There is a high prevalence of gastrointestinal-related (GI) symptoms among children with autism spectrum disorder (ASD), which is associated with the severity of behavioral symptoms. Fecal microbiota transplantation (FMT) is a proposed therapeutic strategy that aims to address the dysregulation of the gut microbiome among children with ASD. Our study performed the first systematic review aimed to evaluate the benefits of FMT on the behavioral and gastrointestinal symptoms of pediatric patients with autism. Methods: A literature search was performed using variations of the keywords « pediatrics » and « fecal microbiota transplantation » in PubMed, EMBASE, CINAHL, Cochrane, and Web of Science from inception to 30 June 2022. Four studies that met the eligibility criteria were included in the systematic review. The efficacy of FMT on behavioral symptoms was measured by the difference in Aberrant Behavior Checklist (ABC) and Child Autism Rating Scale (CARS) scores before and after FMT. Results: We found a statistically significant improvement (p < 0.05) in ABC and CARS scores following FMT, with a statistically significant decrease in scores observed across all studies. In addition, substantial improvements in gastrointestinal symptoms were observed across all studies. Conclusion: Our findings suggest that FMT may offer a promising intervention for treating both behavioral and gastrointestinal symptoms in pediatric patients with autism.

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7. Harris E. Trofinetide Receives FDA Approval as First Drug for Rett Syndrome. JAMA;2023 (Mar 22)

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8. Heyworth M, Brett S, den Houting J, Magiati I, Steward R, Urbanowicz A, Stears M, Pellicano E. « I’m the Family Ringmaster and Juggler »: Autistic Parents’ Experiences of Parenting During the COVID-19 Pandemic. Autism Adulthood;2023 (Mar 1);5(1):24-36.

BACKGROUND: Little is known about autistic parenthood. The literature that exists suggests that autistic parents can find it difficult to manage the everyday demands of parenting and domestic life. While emerging research has also highlighted more positive parenting experiences, greater understanding of autistic parenthood is needed. OBJECTIVE: This study sought to understand autistic parents’ parenting experiences during the initial phase of the COVID-19 pandemic. METHODS: Thirty-five Australian autistic parents (95% women) of autistic children (aged 4-25 years) took part in semi-structured interviews designed to elicit their experiences of life during lockdown. We used reflexive thematic analysis using an inductive (bottom-up) approach to identify patterned meanings within the data set. RESULTS: Autistic parents repeatedly spoke of how the lockdown brought some initial relief from the intensity of their usual lives caring for their children. Nevertheless, most autistic parents felt that the « cumulative stress » of trying to juggle everything during lockdown proved very challenging, which eventually took its toll on parents’ mental health. Parents were aware that they needed support but found it difficult to reach out to their usual social supports (including autistic friends) for help, and formal supports were virtually nonexistent. Consequently, they felt « very much forgotten. » Nevertheless, they described how their connections with their children grew stronger over lockdown as they focused on nurturing their children’s « mental health ahead of everything else. » CONCLUSIONS: Our analysis shows how challenging conventional life can be for autistic parents. Parenting requires grappling with a distinctive set of demands, which are usually partially manageable through the informal supports many autistic parents draw upon. The relative absence of informal supports during the pandemic, however, left them reliant on more formal supports, which were not forthcoming. Research is urgently needed to identify the most effective formal supports for autistic parents, ideally in partnership with autistic parents themselves.

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9. Hoover K, Di Guglielmo MD, Perry B. Disparities in Vision Screening in Primary Care for Young Children With Autism Spectrum Disorder. Pediatrics;2023 (Apr 1);151(4)

OBJECTIVES: To determine the rate of vision screening among children with and without autism spectrum disorder (ASD), the rate of photoscreening compared with visual acuity screening, and the effect of demographic factors on vision screening for children with ASD. METHODS: Data from well visits for 3- to 5-year-olds between January 2016 and December 2019 were collected via PEDSnet. Billing codes for vision screening were a proxy for the completion of vision screening. χ2 analysis examined the relationship of age, sex, race, ethnicity, region, and socioeconomic status to vision screening rate and rate of photoscreening versus visual acuity screening. Multivariate logistic regression assessed factors that impacted the odds of vision screening. RESULTS: We analyzed 63 829 well-child visits. Children with ASD were less likely to have a vision screening (36.5%) compared with children without ASD (59.9%). The lowest rates of screening occurred during the 3-year visit. Of those with ASD, Black children had a lower screening rate (27.6%) than white (39.7%) and other/multiracial children (39.8%). The use of photoscreening was higher in Hispanic children, increasing the overall rate of vision screening greater than non-Hispanic children. Practice region influenced the rates of vision screening for children with ASD because of more photoscreening. CONCLUSIONS: Children with ASD are less likely to receive vision screening at well visits compared with typically developing children. This disparity was greatest among younger children and Black children. One practice region used more photoscreening and had higher rates of screening. Photoscreening is a useful tool to decrease disparity, especially among high-risk patient groups.

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10. Hou Y, Yan T, Deng M, Li Y, Zhang J. The development and validation of a questionnaire on parental involvement in the transition from kindergarten to primary school for children with developmental disabilities in China. Res Dev Disabil;2023 (Mar 22);136:104494.

BACKGROUND: At present, there is a lack of valid and reliable instruments that can measure parental involvement in the transition from kindergarten to primary school of children with developmental disabilities (DD) in China. AIM: This study seeks to develop and validate the questionnaire on Parental Involvement in Transition from Kindergarten to Primary School (PITKPS) for children with DD in China. METHODS: A total of 241 parents of children with DD participated in Study 1, and another 247 parents participated in Study 2. In study 1, we used item analysis and exploratory factor analysis to screen items and explore the factor structure of the PITKPS questionnaire. In study 2, three types of validity were examined: construct validity; convergent and discriminative validity; and criterion-related validity. Internal consistency was used to measure reliability. RESULTS: The final version of the PITKPS questionnaire comprised 37 items that examined six factors. Confirmatory factor analysis supported the use of the six-factor model, and the results indicated that the questionnaire had good reliability and validity. CONCLUSIONS: The PITKPS questionnaire can be used as a valid tool to assess the involvement of Chinese parents in the transition from kindergarten to primary school of children with DD.

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11. Hudson M, Santavirta S, Putkinen V, Seppälä K, Sun L, Karjalainen T, Karlsson HK, Hirvonen J, Nummenmaa L. Neural responses to biological motion distinguish autistic and schizotypal traits. Soc Cogn Affect Neurosci;2023 (Mar 22);18(1)

Difficulties in social interactions characterize both autism and schizophrenia and are correlated in the neurotypical population. It is unknown whether this represents a shared etiology or superficial phenotypic overlap. Both conditions exhibit atypical neural activity in response to the perception of social stimuli and decreased neural synchronization between individuals. This study investigated if neural activity and neural synchronization associated with biological motion perception are differentially associated with autistic and schizotypal traits in the neurotypical population. Participants viewed naturalistic social interactions while hemodynamic brain activity was measured with fMRI, which was modeled against a continuous measure of the extent of biological motion. General linear model analysis revealed that biological motion perception was associated with neural activity across the action observation network. However, intersubject phase synchronization analysis revealed neural activity to be synchronized between individuals in occipital and parietal areas but desynchronized in temporal and frontal regions. Autistic traits were associated with decreased neural activity (precuneus and middle cingulate gyrus), and schizotypal traits were associated with decreased neural synchronization (middle and inferior frontal gyri). Biological motion perception elicits divergent patterns of neural activity and synchronization, which dissociate autistic and schizotypal traits in the general population, suggesting that they originate from different neural mechanisms.

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12. Jones SC, Trott E, Gordon C, Milne L. Perception of the Portrayal of Autism in Netflix’s Atypical Within the Autism Community. Autism Adulthood;2023 (Mar 1);5(1):76-85.

BACKGROUND: Fictional portrayals of autism play a role in raising awareness, shaping knowledge, and influencing attitudes toward autism. However, the accuracy of these portrayals is a topic of debate. Limited research has been conducted with the autism community regarding their perceptions of fictional portrayals of autism. This study aimed to explore autistic people’s perceptions of the accuracy, educational benefits, and impact of Atypical, a Netflix comedy drama series focused on the experiences of an autistic protagonist. METHODS: Participants were 77 members of the autism community (autistic N = 65, parent/partner N = 12), recruited via social media. Participants completed a cross-sectional predominantly qualitative survey. We undertook descriptive statistical analyses on the quantitative data and used a reflexive thematic analysis approach to analyze the qualitative data. RESULTS: The majority of participants described Sam’s portrayal as accurate, emphasizing that it was accurate as one example of autism. Family members appeared more likely to perceive Atypical as having informative benefit and being likely to improve attitudes toward autism than were autistic people. The primary concerns identified were the stereotypical representation of a popular media image of autism, the lack of diversity, and the depiction of autism as a burden or challenge for the protagonist and his family. CONCLUSIONS: This study builds on previous research on the portrayal of autism in entertainment media by investigating the perception of the autism community regarding one such fictional portrayal. It identifies that for entertainment media to better represent the lived experience of autistic people and improve community understanding of autism, there is a need for increased diversity of portrayals and for the involvement of autistic people in the development and production process.

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13. Kangarani-Farahani M, Malik MA, Zwicker JG. Motor Impairments in Children with Autism Spectrum Disorder: A Systematic Review and Meta-analysis. J Autism Dev Disord;2023 (Mar 22)

This article comprehensively reviews motor impairments in children with autism spectrum disorder (ASD) to: (1) determine the prevalence of motor problems in children with ASD; (2) understand the nature of motor difficulties in ASD and whether they are consistent with developmental coordination disorder (DCD); and (3) determine if the term DCD was used as a co-occurring diagnosis in children with ASD after publication of the DSM-5 in 2013. The following databases were systematically searched: MEDLINE, EMBASE, CINAHL, and PsycINFO from 2010 to December 2021. Articles were included if they: (1) were peer-reviewed and published in a scientific journal; (2) included children with ASD who were between 5 and 12 years; (3) used motor or function measures to assess motor abilities in children with ASD. Studies that included children with intellectual disabilities were excluded. Two independent reviewers reviewed titles, abstracts, and full-text articles for inclusion. Twenty-seven studies met the inclusion criteria and were assessed for quality by two independent reviewers using the Appraisal tool for Cross-Sectional Studies. The majority of articles (92.5%) indicated that 50-88% of children with ASD had significant motor impairments on standardized motor assessments and/or functional questionnaires. The nature of motor and function problems in ASD were consistent with DCD; however, only three out of 20 papers (15%) that were published from 2014 described the motor problems as DCD. One study reported that 15.1% of children with ASD with motor impairments had a co-occurring diagnosis of DCD, suggesting that DCD is under-recognized in this clinical population.

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14. Kyriakopoulou V, Davidson A, Chew A, Gupta N, Arichi T, Nosarti C, Rutherford MA. Characterisation of ASD traits among a cohort of children with isolated fetal ventriculomegaly. Nat Commun;2023 (Mar 21);14(1):1550.

Fetal ventriculomegaly is the most common antenatally-diagnosed brain abnormality. Imaging studies in antenatal isolated ventriculomegaly demonstrate enlarged ventricles and cortical overgrowth which are also present in children with autism-spectrum disorder/condition (ASD). We investigate the presence of ASD traits in a cohort of children (n = 24 [20 males/4 females]) with isolated fetal ventriculomegaly, compared with 10 controls (n = 10 [6 males/4 females]). Neurodevelopmental outcome at school age included IQ, ASD traits (ADOS-2), sustained attention, neurological functioning, behaviour, executive function, sensory processing, co-ordination, and adaptive behaviours. Pre-school language development was assessed at 2 years. 37.5% of children, all male, in the ventriculomegaly cohort scored above threshold for autism/ASD classification. Pre-school language delay predicted an ADOS-2 autism/ASD classification with 73.3% specificity/66.7% sensitivity. Greater pre-school language delay was associated with more ASD symptoms. In this study, the neurodevelopment of children with isolated fetal ventriculomegaly, associated with altered cortical development, includes ASD traits, difficulties in sustained attention, working memory and sensation-seeking behaviours.

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15. Little LM, Wallisch A, Dunn W, Tomchek S. A Telehealth Delivered Toilet Training Intervention for Children with Autism. OTJR (Thorofare N J);2023 (Mar 21):15394492231159903.

BACKGROUND: Independence in toileting is a vital skill, yet toilet-training interventions for children with autism are limited. OBJECTIVES: We investigated the acceptability and preliminary efficacy of a hybrid telehealth intervention that used synchronous individualized coaching sessions and asynchronous online educational materials to support parents in toilet training their children with autism. METHOD: Participants included 34 families of children with autism ages 2 to 8 years. Measures were administered at pre- and postintervention (10-12 weeks) and included the Toileting Behavior Questionnaire, Goal Attainment Scaling, and Canadian Occupational Performance Measure. RESULTS: Twenty-five families completed all intervention procedures. Parents found the intervention highly acceptable and reported significant improvements in child toileting behaviors; however, families accessed the asynchronous intervention materials at a low rate. CONCLUSION: A parent coaching model delivered through telehealth may be a promising method to increase toileting independence among families of young children with autism.

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16. Maniram J, Oosthuizen F, Karrim SBS. An Overview of Pharmacotherapy in the Management of Children with Autism Spectrum Disorder at a Public Hospital in KwaZulu-Natal. Child Psychiatry Hum Dev;2023 (Mar 22)

This study presents an overview of prescribing patterns and provides insight into the current management practice for the core symptoms and comorbidities of ASD in children. A quantitative retrospective study was conducted at a public hospital in KwaZulu-Natal, South Africa by reviewing patient files of children diagnosed with ASD and meeting the inclusion criteria for the study. A descriptive analysis of data was done to identify treatment trends and patient therapeutic outcomes. A total of 181 children met the inclusion criteria of the study. Risperidone was the most frequently prescribed drug (88%) for the management of comorbidities and/or core symptoms of ASD. Drugs prescribed to manage ASD comorbidities included methylphenidate, melatonin, sodium valproate, risperidone, oxybutynin, carbamazepine, and others. Except for risperidone, there were no additional drugs that targeted the core symptoms of ASD. Non-pharmacological therapies were often used collaboratively with medication to manage ASD symptoms. In 41% of patients, there were improvements in their symptoms.

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17. Mazurek MO, Sadikova E, Cheak-Zamora N, Hardin A, Sohl K, Malow BA. Health Care Needs, Experiences, and Perspectives of Autistic Adults. Autism Adulthood;2023 (Mar 1);5(1):51-62.

BACKGROUND: Autistic adults have high rates of co-occurring health conditions, suicide, and premature mortality, yet often experience health care barriers and poor health outcomes. A better understanding of the health care needs and experiences of autistic adults is essential for improving the health care system and patient experience. METHODS: This study examined the perspectives of autistic adults regarding their health care experiences in primary care and other settings and their suggestions for improvement using both qualitative and quantitative methods. Twenty autistic adults (aged 18-35 years, 65% male) completed surveys and individual semi-structured interviews. RESULTS: Qualitative data analysis results revealed 10 subthemes across 3 overarching themes: (1) system- and clinic-level factors affect access to care, (2) aspects of the clinic environment affect health care experiences, and (3) provider knowledge and practices affect health care experiences. Within the first theme, participants described barriers to obtaining services, including scheduling logistics, costs and inadequate insurance coverage, and transportation barriers. The second theme focused on aspects of the clinic environment that participants found especially relevant to their health care experiences and that required specific accommodations. This included sensory input, anxiety-provoking situations and procedures, and wait time. Within the third theme, participants emphasized aspects of providers’ care that affected their health care experiences. Key factors included provider knowledge about autism, communication, rapport, and individualized care and patient-provider partnerships. CONCLUSION: Overall, the findings point to a need for provider training and improvements to the health care delivery system to better meet the unique needs of autistic adults.

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18. Ratto AB, Bascom J, daVanport S, Strang JF, Anthony LG, Verbalis A, Pugliese C, Nadwodny N, Brown LXZ, Cruz M, Hector BL, Kapp SK, Giwa Onaiwu M, Raymaker DM, Robison JE, Stewart C, Stone R, Whetsell E, Pelphrey K, Kenworthy L. Centering the Inner Experience of Autism: Development of the Self-Assessment of Autistic Traits. Autism Adulthood;2023 (Mar 1);5(1):93-105.

Current tools for identifying autism are critiqued for their lack of specificity and sensitivity, especially in autistic people who are older, have higher verbal ability or significant compensatory skills, and are not cisgender boys. This may reflect the following: the historical focus of autism research on White (cisgender) male, upper and middle class children; limited interest in the inner, lived experience of autism; and the predominance of a deficit-based model of autism. We report here on the first attempt of which we are aware to develop a clinical self-report measure of autistic traits as described by autistic people. We believe this is an advance in methodology because prior work in the development of autistic trait/diagnostic measures has prioritized the perspectives of nonautistic clinicians and scientists. The measure was developed under the leadership of two autistic researchers and constructed by leveraging descriptions of autism by autistic people to generate items designed to encompass the range of the autistic experience, using strength-based, accessible language. The team utilized iterative feedback from a panel of autistic experts to refine and enhance the measure, called the Self Assessment of Autistic Traits (SAAT). It is intended for people 16 years or older and uses a format that is designed to increase its accessibility and acceptability for autistic respondents. Future work will report on the preliminary psychometrics of the SAAT, with a long-term goal of advancing our understanding of the inner autistic experience and enhancing the clinical and scientific assessment of autism.

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19. Rosqvist HB, Botha M, Hens K, O’Donoghue S, Pearson A, Stenning A. Being, Knowing, and Doing: Importing Theoretical Toolboxes for Autism Studies. Autism Adulthood;2023 (Mar 1);5(1):15-23.

The aim of this article was to think with and elaborate on theories developed outside of autism research and the autistic community, and through this support the production of new autistic-led theories: theories and concepts based on autistic people’s own embodied experiences and the social worlds we inhabit. The article consists of three different sections all of part of the overall umbrella, Being, knowing, and doing: Importing theoretical toolboxes for autism studies. In each section, we import useful concepts from elsewhere and tailor them to autism studies. Throughout, we mingle our own autoethnographic accounts and shared discourse in relation to research accounts and theories. Illustrating being, we explore and discuss the possibilities of critical realism in autism studies. Illustrating knowing, we explore and discuss the possibilities of standpoint theory in autism studies. Finally, illustrating doing, we explore and discuss the possibilities of neurocosmopolitics including epistemic (in)justice in autism studies. Our proposal here is for an epistemic shift toward neurodiverse collaboration. We are inviting nonautistic people to work with, not on, us, aiming at to make autism research more ethical, breaking down bureaucratic structures, and questioning poor theory and shoddy methodology. Acknowledging intersecting axes of oppression in which an individual seeks to renegotiate and reimagine what it means to belong also means to understand what needs changing in society, as it is and how we might do things differently.

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20. Smit S, Hopper J. Love, Joy, and a Lens of Childhood Trauma: Exploring Factors That Impact the Mental Health and Well-Being of Autistic Parents via Iterative Phenomenological Analysis. Autism Adulthood;2023 (Mar 1);5(1):63-75.

BACKGROUND: The autistic community have called for an increase in autism research exploring the lifespan experiences of autistic people. Researchers have notably neglected the parenting experiences of autistic adults. We aimed to study the factors that impact the mental health of autistic parents. We also explored the possible influence of childhood trauma. METHODS: Nine autistic parents took part in remote semi-structured interviews. We used participants’ chosen communication modalities during interviews to facilitate accessibility. We carried out data analysis using the principles of Iterative Phenomenological Analysis, a qualitative approach where meaning is co-constructed by both the participant’s interpretation of their personal experience and the researcher’s subjective interpretation. RESULTS: We identified three superordinate themes: Identity and Purpose; Looking Through a Lens of Trauma; and External Factors. Our participants described intimate connections with their children, who were sources of love and joy. Their childhood trauma influenced their parenting experiences. They experienced extreme empathy, perfectionism, and a drive to protect their children from the same trauma. We found that professionals’ acceptance and awareness of autism was essential for positive outcomes during interactions with participants. Participants also experienced pervasive sensory overload from their environments, related to a loss of trusted coping mechanisms when they became parents. CONCLUSIONS: Our study draws attention to the influence of childhood trauma on the parenting experience of autistic adults. We reveal an unexplored long-term impact of childhood trauma resulting from a lack of support and othering of autistic children. Professionals should consider that autistic parents may be parenting through a lens of historical trauma. Professionals should be trained in trauma-informed approaches for providing support. Researchers should investigate this phenomenon to explore how this knowledge can be used to inform practise. Researchers should also investigate wider systemic and societal issues that have an impact on the mental health of autistic parents.

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21. Thomas BR, Nasca B, Cohen J, Strohmeier CW. Functional Analysis and Chained Schedule Treatment of Elopement in Teens with Autism Spectrum Disorder. Dev Neurorehabil;2023 (Mar 22):1-11.

Elopement is one of the most common forms of problem behavior for individuals with autism spectrum disorder (ASD) and is associated with the greatest probability of a lethal outcome. This study evaluated the effects of a function-based treatment package on elopement for two teenage boys with ASD who eloped frequently from caregivers. Functional analyses (FA) identified the variables that evoked and maintained each teen’s elopement. Treatment involved a chained schedule comprised primarily of empirically derived differential reinforcement of other behavior (DRO), functional communication training (FCT), and extinction procedures. The treatment produced clinically significant decreases in elopement for both teens. Decreases in elopement maintained when the treatment evaluation was extended to additional contexts. The current study extends the literature on assessment and treatment of elopement and chained schedule treatments that involve both DRO and FCT.

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22. Wall CA, Sabatos-DeVito M, Franz L, Howard J, Major S, Bey A, Dawson G. Eye-tracking measures of social versus nonsocial attention are related to level of social engagement during naturalistic caregiver-child interactions in autistic children. Autism Res;2023 (Mar 20)

Eye-tracking (ET) measures indexing social attention have been proposed as sensitive measures related to autism, but less is known about the relationship between social and nonsocial attention and naturalistic measures of social engagement and whether sex moderates this relationship. This study investigated ET measures of social attention as predictors of social engagement during a naturalistic caregiver-child interaction (CCI). Participants included 132, 2-7-year-old autistic children (77% male) and their caregivers. Participants engaged in a CCI and an ET task in which they viewed a video of an actor making dyadic bids toward the child with toys in the background. Pearson correlations and multiple regression analyzes revealed that ET measures correlated with social engagement behaviors, including degree of attention to the caregiver and objects, joint engagement with the caregiver, and language-based joint engagement. Children who spent more time looking at toys were more likely to be unengaged during social interaction. Those who spent more time looking at the actor’s mouth were more likely to engage in coordinated play with and without language. Sex moderated the relationship between time looking at toys and unengagement during play; males who spent more time looking at toys spent more time unengaged during play, whereas females who spent more time looking at toys spent less time unengaged during play. Overall, ET measures of social and nonsocial attention correlated with the level of social engagement during naturalistic play, with some sex differences. Eye-tracking measures that predict interaction patterns may provide insight into promoting social engagement between caregivers and their autistic children and can inform outcome monitoring and intervention development.

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23. Wulff RA, Iosif AM, Krug MK, Harvey PD, Solomon M. Piloting a Novel Daily Living Skills Assessment in Autistic Adolescents and Young Adults. Autism Adulthood;2023 (Mar 1);5(1):86-92.

BACKGROUND: There are a few ecologically valid measurements of Daily Living Skills (DLS)-a critical component of adaptive functioning (AF)-for autistic adolescents and young adults. This is particularly important given that DLS predict outcomes as autistic adolescents transition to adulthood. METHODS: We pilot-tested the assessment section of two modules of the Computerized Functional Skills Assessment and Training program (CFSAT) in 25 autistic (n = 4 female) and 25 non-autistic (n = 6 female) adolescents and young adults to evaluate preliminary feasibility in an autistic sample. Tasks involved using an ATM and ticket-buying machine. We also assessed AF and DLS with a well-validated self-report questionnaire. We examined group differences in performance and relationships between performance on CFSAT and an existing measure of AF and DLS. We also conducted regression analyses to investigate the associations between age, IQ, executive functioning (EF), and CFSAT task performance. RESULTS: All but one autistic participant were able to complete the CFSAT tasks. Autistic participants made more errors, but did not take longer to complete the task, than non-autistic participants. Performance correlated strongly with self-reported AF generally and DLS specifically. The regression analyses revealed that task performance was associated with EF in the autistic group, but not the non-autistic group. CONCLUSIONS: These results provide preliminary support for the use of a new performance-based ecologically valid assessment of DLS in an autistic population. Two CFSAT modules were well-tolerated and detected differences in DLS ability. Strong correlations with an existing measure of AF suggest evidence of construct validity. The EF was associated with CFSAT task performance in autistic individuals. Such a tool could help identify individuals who would benefit from a DLS intervention.

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24. Xiao L, Huo X, Wang Y, Li W, Li M, Wang C, Wang F, Sun T. A bibliometric analysis of global research status and trends in neuromodulation techniques in the treatment of autism spectrum disorder. BMC Psychiatry;2023 (Mar 20);23(1):183.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease which has risen to become the main cause of childhood disability, placing a heavy burden on families and society. To date, the treatment of patients with ASD remains a complicated problem, for which neuromodulation techniques are a promising solution. This study analyzed the global research situation of neuromodulation techniques in the treatment of ASD from 1992 to 2022, aiming to explore the global research status and frontier trends in this field. METHODS: The Web of Science (WoS) was searched for literature related to neuromodulation techniques for ASD from 1992 to October 2022. A knowledge atlas to analyze collaboration among countries, institutions, authors, publishing journals, reference co-citation patterns, keyword co-occurrence, keyword clustering, and burst keywords was constructed using Rstudio software, CiteSpace, and VOSviewer. RESULTS: In total, 392 publications related to the treatment of ASD using neuromodulation techniques were included. Despite some fluctuations, the number of publications in this field has shown a growing trend in recent years. The United States and Deakin University are the leading country and institution in this field, respectively. The greatest contributing authors are Peter G Enticott, Manuel F Casanova, and Paul B Fitzgerald et al. The most prolific and cited journal is Brain Stimulation and the most commonly co-cited journal is The Journal of Autism and Developmental Disorders. The most frequently cited article was that of Simone Rossi (Safety, ethical considerations, and application guidelines for the use of transverse magnetic stimulation in clinical practice and research, 2009). « Obsessive-compulsive disorder, » « transcranial direct current stimulation, » « working memory, » « double blind » and « adolescent » were identified as hotspots and frontier trends of neuromodulation techniques in the treatment of ASD. CONCLUSION: The application of neuromodulation techniques for ASD has attracted the attention of researchers worldwide. Restoring the social ability and improving the comorbid symptoms in autistic children and adults have always been the focus of research. Neuromodulation techniques have demonstrated significant advantages and effects on these issues. Transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) are new therapeutic methods introduced in recent years, and are also directions for further exploration.

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25. Yamada T, Watanabe T, Sasaki Y. Are sleep disturbances a cause or consequence of autism spectrum disorder?. Psychiatry Clin Neurosci;2023 (Mar 22)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core symptoms such as atypical social communication, stereotyped behaviors, and restricted interests. One of the comorbid symptoms of individuals with ASD is sleep disturbance. There are two major hypotheses regarding the neural mechanism underlying ASD, i.e., the excitation/inhibition (E/I) imbalance and the altered neuroplasticity hypotheses. However, the pathology of ASD remains unclear due to inconsistent research results. This paper argues that sleep is a confounding factor, thus, must be considered when examining the pathology of ASD because sleep plays an important role in modulating the E/I balance and neuroplasticity in the human brain. Investigation of the E/I balance and neuroplasticity during sleep might enhance our understanding of the neural mechanisms of ASD. It may also lead to the development of neurobiologically informed interventions to supplement existing psychosocial therapies. This article is protected by copyright. All rights reserved.

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26. Zheng J, Shao L, Yan Z, Lai X, Duan F. Study subnetwork developing pattern of autism children by non-negative matrix factorization. Comput Biol Med;2023 (Mar 22);158:106816.

BACKGROUND: As a developmental disorder, the brain networks of autism children show abnormal patterns compared with that of typically developing. The differences between them are not stable due to the developing progress of children. It has become a choice to study the differences of developing trajectories between autistic and typically developing children by investigating the change of each group respectively. Related researches studied the developing of brain network by analyzing the relationship between network indices of the entire or sub brain networks and the cognitive developing scores. METHODS: As a matrix decomposition algorithm, non-negative matrix factorization (NMF) was applied to decompose the association matrices of brain networks. By NMF, we can obtain subnetworks in an unsupervised way. The association matrices of autism and control children were estimated by their magnetoencephalography data. NMF was applied to decompose the matrices to obtain common subnetworks of both groups. Then we calculated the expression of each subnetwork in each child’s brain network by two indices, energy and entropy. The relationship between the expression and the cognitive and development indices were investigated. RESULTS: We found a subnetwork with left lateralization pattern in α band showed different expression tendency in two groups. The expression indices of two groups were correlated with cognitive indices in autism and control group in an opposite way. In γ band, a subnetwork with strong connections on right hemisphere of brain showed a negative correlation between the expression indices and development indices in autism group. CONCLUSION: NMF algorithm can effectively decompose brain network to meaningful subnetworks. The finding of α band subnetworks confirms the results of abnormal lateralization of autistic children mentioned in relevant studies. We assume the results of decrease of expression of the subnetwork may relate to the dysfunction of mirror neuron. The decrease expression of γ subnetwork of autism may be related to the weaken process of high-frequency neurons in the neurotrophic competition.

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