1. Almuqhim F, Saeed F. ASD-GResTM: Deep Learning Framework for ASD classification using Gramian Angular Field. Proceedings (IEEE Int Conf Bioinformatics Biomed);2023 (Dec);2023:2837-2843.

Autism Spectrum Disorder (ASD) is a heterogeneous disorder in children, and the current clinical diagnosis is accomplished using behavioral, cognitive, developmental, and language metrics. These clinical metrics can be imperfect measures as they are subject to high test-retest variability, and are influenced by assessment factors such as environment, social structure, or comorbid disorders. Advances in neuroimaging coupled with machine-learning provides an opportunity to develop methods that are more quantifiable, and reliable than existing clinical techniques. In this paper, we design and develop a deep-learning model that operates on functional magnetic resonance imaging (fMRI) data, and can classify between ASD and neurotypical brains. We introduce a novel strategy to transform time-series data extracted from fMRI signals into Gramian Angular Field (GAF) while locking in the temporal and spatial patterns in the data. Our motivation is to design and develop a novel framework that could encode the time-series, acquired from fMRI data, into images that can be used by deep-learning architectures that have been successful in computer vision. In our proposed framework called ASD-GResTM, we used a Convolutional Neural Network (CNN) to extract useful features from GAF images. We then used a Long Short-Term Memory (LSTM) layer to learn the activities between the regions. Finally, the output representations of the last LSTM layer are applied to a single-layer perceptron (SPL) to get the final classification. Our extensive experimentation demonstrates high accuracy across 4 centers, and outperforms state-of-the-art models on two centers with an increase in the accuracy of 17.58% and 6.7%, respectively as compared to the state of the art. Our model achieved the maximum accuracy of 81.78% with high degree of sensitivity and specificity. All training, validation, and testing was accomplished using openly available ABIDE-I benchmarking dataset.

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2. Angell AM, Taylor EE, Akrofi JNS, Carreon ED, Franklin MD, Miller J, Crowley C, Maher SO. « This Is Going To Be Different, But It’s Not Impossible »: Adapting To Telehealth Occupational Therapy For Autistic Children. Int J Telerehabil;2024;16(1):e6608.

This qualitative study examined participants’ experiences of transitioning to telehealth-delivered pediatric occupational therapy for autistic children during the COVID-19 pandemic. We interviewed three clinic administrators, four occupational therapists, and six parents of autistic children (n=13) from three Los Angeles area clinics over a 7-month period. Our narrative and thematic analyses yielded three overarching themes: Transformative Experiences, Reimagining Therapy, and Going Forward. Overall, we found that the transition to telehealth shifted participants’ preconceptions about themselves, their relationships, and the nature of occupational therapy. Many deepened their relationships; adapted interventions; uncovered surprising capabilities; and challenged the occupational therapy status quo to advocate for ongoing virtual delivery. Our findings bear relevance to the body of current literature debating the post-pandemic viability of telehealth-delivered occupational therapy.

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3. Azidane S, Gallego X, Durham L, Cáceres M, Guney E, Pérez-Cano L. Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders. HGG Adv;2024 (Jul 18);5(3):100316.

Copy-number variants (CNVs) are genome-wide structural variations involving the duplication or deletion of large nucleotide sequences. While these types of variations can be commonly found in humans, large and rare CNVs are known to contribute to the development of various neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). Nevertheless, given that these NDD-risk CNVs cover broad regions of the genome, it is particularly challenging to pinpoint the critical gene(s) responsible for the manifestation of the phenotype. In this study, we performed a meta-analysis of CNV data from 11,614 affected individuals with NDDs and 4,031 control individuals from SFARI database to identify 41 NDD-risk CNV loci, including 24 novel regions. We also found evidence for dosage-sensitive genes within these regions being significantly enriched for known NDD-risk genes and pathways. In addition, a significant proportion of these genes was found to (1) converge in protein-protein interaction networks, (2) be among most expressed genes in the brain across all developmental stages, and (3) be hit by deletions that are significantly over-transmitted to individuals with ASD within multiplex ASD families from the iHART cohort. Finally, we conducted a burden analysis using 4,281 NDD cases from Decipher and iHART cohorts, and 2,504 neurotypical control individuals from 1000 Genomes and iHART, which resulted in the validation of the association of 162 dosage-sensitive genes driving risk for NDDs, including 22 novel NDD-risk genes. Importantly, most NDD-risk CNV loci entail multiple NDD-risk genes in agreement with a polygenic model associated with the majority of NDD cases.

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4. Bai SY, Zeng DY, Ouyang M, Zeng Y, Tan W, Xu L. Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome. Front Cell Neurosci;2024;18:1393536.

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a monogenic cause of autism spectrum disorders. Deficiencies in the fragile X messenger ribonucleoprotein, encoded by the FMR1 gene, lead to various anatomical and pathophysiological abnormalities and behavioral deficits, such as spine dysmorphogenesis and learning and memory impairments. Synaptic cell adhesion molecules (CAMs) play crucial roles in synapse formation and neural signal transmission by promoting the formation of new synaptic contacts, accurately organizing presynaptic and postsynaptic protein complexes, and ensuring the accuracy of signal transmission. Recent studies have implicated synaptic CAMs such as the immunoglobulin superfamily, N-cadherin, leucine-rich repeat proteins, and neuroligin-1 in the pathogenesis of FXS and found that they contribute to defects in dendritic spines and synaptic plasticity in FXS animal models. This review systematically summarizes the biological associations between nine representative synaptic CAMs and FMRP, as well as the functional consequences of the interaction, to provide new insights into the mechanisms of abnormal synaptic development in FXS.

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5. Bonino AY, Mood D, Dietrich MS. Rethinking the Accessibility of Hearing Assessments for Children with Developmental Disabilities. J Autism Dev Disord;2024 (Jul 18)

We aim to determine the accessibility of gold-standard hearing assessments – audiogram or auditory brainstem response (ABR) – during the first 3 months of hearing health care for children with and without developmental disabilities. Electronic health records were examined from children (0-18 years) who received hearing health care at three hospitals. Children with developmental disabilities had a diagnosis of autism, cerebral palsy, Down syndrome, or intellectual disability. Assessments from the first 3 months were reviewed to determine if ≥ 1 audiogram or ABR threshold was recorded. To evaluate differences in assessment based on disability status, logistic regression models were built while accounting for age, race, ethnicity, sex, and site. Of the 131,783 children, 9.8% had developmental disabilities. Whereas 9.3% of children in the comparison group did not access a gold-standard assessment, this rate was 24.4% for children with developmental disabilities (relative risk (RR) = 3.79; p < 0.001). All subgroups were at higher risk relative to the comparison group (all p < 0.001): multiple diagnoses (RR = 13.24), intellectual disabilities (RR = 11.52), cerebral palsy (RR = 9.87), Down syndrome (RR = 6.14), and autism (RR = 2.88). Children with developmental disabilities are at high risk for suboptimal hearing evaluations that lack a gold-standard assessment. Failure to access a gold-standard assessment results in children being at risk for late or missed diagnosis for reduced hearing. Results highlight the need for (1) close monitoring of hearing by healthcare providers, and (2) advancements in testing methods and guidelines.

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6. Castelin S, Okorodudu J, Smith T. Partnering With a Purpose: Promoting Equity and Justice for Black Children With Autism Spectrum Disorder. J Dev Behav Pediatr;2024 (Jul 17)

OBJECTIVE: Black children with autism and their families face disparities within clinical care and services, leading to inequitable health outcomes. However, there is limited research centering the voices of the Black autism community in understanding how to address these inequities. In this study, researchers explored the perspectives of caregivers of Black children with autism regarding barriers to equitable care and recommendations for improved services. METHODS: Community leaders from an autism advocacy group and researchers from a large academic medical center partnered to conduct a Group Level Assessment with 31 Black families of children with autism. During a three-hour research event, participants discussed their experiences within community, school, and clinical services, collectively coded and interpreted the data, and generated action steps to improve services. RESULTS: The findings revealed 6 areas of need regarding the services Black children with autism and their caregivers receive. Black caregivers recommended that systems of care improve access to culturally responsive care, integrate caregiver priorities within their care, and engage in collaborative decision-making with caregivers. Providers should also equip caregivers with an accessible roadmap for navigating their child’s services and connect them to care management professionals and resources for mental health support. CONCLUSION: The findings of this study address a critical gap in the literature by partnering with the Black autism community to identify solutions to address their needs; these recommendations can be used as a foundation for service providers to reduce disparities and improve outcomes for Black children with autism and their families.

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7. Craddock E. Being a Woman Is 100% Significant to My Experiences of Attention Deficit Hyperactivity Disorder and Autism: Exploring the Gendered Implications of an Adulthood Combined Autism and Attention Deficit Hyperactivity Disorder Diagnosis. Qual Health Res;2024 (Jul 18):10497323241253412.

This article provides original insight into women’s experiences of adulthood diagnoses of attention deficit hyperactivity disorder (ADHD) and autism. Research exploring experiences of adulthood diagnoses of these conditions is emerging. Yet, there is no research about the gendered experiences of an adulthood combined ADHD and autism (AuDHD) diagnosis. This article addresses this gap through interpretative phenomenological analysis of email interviews with six late-diagnosed AuDHD women revealing the complex interplay between late diagnosis, being a woman, and combined diagnoses of ADHD and autism. It underscores how gender norms and stereotypes contribute to the oversight and dismissal of women’s neurodivergence. Interpretative phenomenological analysis reveals the inextricability of femininity and neurotypicality, the gendered burden, discomfort, and adverse consequences of masking, along with the adverse outcomes of insufficient masking. Being an undiagnosed AuDHD woman is a confusing and traumatising experience with profound and enduring repercussions. The impact of female hormones exacerbated participants’ struggles with (peri)menopause often being a catalyst for seeking diagnosis after decades of trauma. The epistemic injustice of not knowing they were neurodivergent compounded this trauma. Diagnosis enabled participants to overcome epistemic injustice and moved them into a feminist standpoint from which they challenge gendered inequalities relating to neurodiversity. This article aims to increase understanding and representation of late-diagnosed AuDHD women’s lived experiences. The findings advocate for trauma-informed pre- and post-diagnosis support which addresses the gendered dimension of women’s experiences of being missed and dismissed as neurodivergent. There needs to be better clinical and public understanding of how AuDHD presents in women to prevent epistemic injustice.

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8. Di Mento B, John JR, Diaz AM, Lin PI, Masi A, Grove R, Eapen V. Sex Differences in the Broad Autism Phenotype: Insights from the Australian Biobank. J Autism Dev Disord;2024 (Jul 18)

Examining sub-threshold autistic traits in non-autistic first-degree relatives of individuals on the autism spectrum, known as the Broad Autism Phenotype (BAP), could provide new insights into the associations and familial aggregation of autistic traits. This study was a retrospective cross-sectional study of parents (n = 1008), probands with autism (n = 613), and unaffected siblings (n = 221) of probands with autism. BAP traits were examined by the BAP Questionnaire and Communication Checklist-Adult in parents, Autism Developmental Observation Scale-Second edition in probands, and Social Responsiveness Scale in siblings. Multivariable linear regression analyses were used to investigate the associations of parental BAP traits on autistic traits in probands and unaffected sibling BAP traits. Fathers showed significantly increased aloofness, pragmatic language difficulties, and social engagement problems compared to mothers. Female siblings showed increased difficulties with social cognition compared to male siblings. Adjusted models of the regression analyses showed that all BAP traits in fathers were significantly associated with BAP trait expression in probands with autism. Additionally, all of mother’s BAP traits were significantly associated with unaffected siblings’ BAP trait expression while only fathers’ aloofness and rigidity traits were inversely associated with siblings’ BAP trait expression. Finally, there were significant inverse interactions noted between parent’s BAP traits and their children’s BAP trait expression. This study demonstrated differences in how males and females express BAP traits and also identified differences in parent-child associations by sex, with fathers having a greater effect on their proband children’s expression of BAP traits than mothers.

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9. Friel C, Leyland AH, Anderson JJ, Havdahl A, Brantsæter AL, Dundas R. Healthy Prenatal Dietary Pattern and Offspring Autism. JAMA Netw Open;2024 (Jul 1);7(7):e2422815.

IMPORTANCE: Prenatal diet may be causally related to autism; however, findings are inconsistent, with a limited body of research based on small sample sizes and retrospective study designs. OBJECTIVE: To investigate the associations of prenatal dietary patterns with autism diagnosis and autism-associated traits in 2 large prospective cohorts, the Norwegian Mother, Father, and Child Cohort Study (MoBa), and the Avon Longitudinal Study of Parents and Children (ALSPAC). DESIGN, SETTING, AND PARTICIPANTS: This cohort study used data from MoBa and ALSPAC birth cohort studies conducted across Norway and in the Southwest of England, respectively. Participants were people with singleton pregnancies with self-reported food frequency questionnaire responses. MoBa recruited between 2002 and 2008, and ALSPAC recruited between 1990 and 1992, and children were followed-up until age 8 years or older. Recruitment rates were 41% (95 200 of 277 702 eligible pregnancies) in MoBa and 72% (14 541 of 20 248 eligible pregnancies) in ALSPAC. Data analysis occurred February 1, 2022, to August 1, 2023. EXPOSURE: A healthy prenatal dietary pattern was derived using factor analysis and modeled as low, medium, and high adherence. MAIN OUTCOMES AND MEASURES: In MoBa, the offspring outcomes were autism diagnosis and elevated social communication questionnaire score at ages 3 years and 8 years, with further analysis of the social communication difficulties and restrictive and repetitive behaviors subdomains. In ALSPAC, offspring outcomes were elevated social communication difficulties checklist score at age 8 years. Odds ratios (ORs) were estimated using generalized nonlinear models. RESULTS: MoBa included 84 548 pregnancies (mean [SD] age, 30.2 [4.6] years; 43 277 [51.2%] male offspring) and ALSPAC had 11 760 pregnancies (mean [SD] age, 27.9 [4.7] years; 6034 [51.3%] male offspring). In the final adjusted models, high adherence to a healthy dietary pattern, compared with low adherence, was associated with reduced odds of autism diagnosis (OR, 0.78; 95% CI, 0.66-0.92) and social communication difficulties at age 3 years in MoBa (OR 0.76, 95% CI, 0.70-0.82) and age 8 years in ALSPAC (OR, 0.74; 95% CI, 0.55-0.98). There was no consistent evidence of association with the other outcomes. CONCLUSIONS AND RELEVANCE: In this cohort study of mother-child dyads, adherence to a healthy prenatal dietary pattern was associated with a lower odds of autism diagnosis and social communication difficulties but not restrictive and repetitive behaviors.

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10. Hill J, Copley J, Donovan S, Ashburner J, Taylor J, Bobir N. What supports do autistic adolescents and adults need? Perspectives of self-reporting adults and caregivers. Aust Occup Ther J;2024 (Jul 17)

INTRODUCTION: Increasingly, autistic adolescents and adults are accessing occupational therapy. However, limited evidence exists on the type of supports that are important to them. Examining the patterns of supports valued by autistic adolescents and adults will inform the design of occupational therapy services. Therefore, this study aimed to identify what supports autistic adolescents and adults believed to be the most important. METHODS: This study involved two anonymous online surveys. Survey one involved 54 items and was distributed to caregivers of autistic adolescents and/or adults. Survey two included 41 items and was distributed to self-reporting autistic adults. Surveys sought closed and open-ended responses about the support needs of autistic individuals living in Australia. Quantitative data were analysed as counts and frequencies of responses, whereas short-answer responses were analysed through content analysis. COMMUNITY AND CONSUMER INVOLVEMENT: There was no consumer or community involvement in the completion of this project. RESULTS: A total of 68 caregivers of autistic adolescents or adults and 59 self-reporting adults completed the survey resulting in 127 responses. Quantitative data from both autistic adolescents’ and adults’ closed-answer responses showed that the highest support needs were for supporting participation in employment and supporting health and wellbeing. Content analysis of open-ended responses, performed separately for each participant group, revealed six categories: employment, promoting independence, supporting positive social and communication experiences, supporting health and wellbeing, caregiver support, and promoting autism acceptance. CONCLUSION: Results highlight that autistic individuals and their caregivers have a diverse range of priorities, all of which align with the scope of occupational therapy practice. Differences between the priorities of autistic individuals and their caregivers highlight the importance of therapists providing person and family-centred approaches tailored towards both the autistic person’s and their caregiver’s needs. PLAIN LANGUAGE SUMMARY: Increasingly, autistic adolescents and adults are accessing occupational therapy services. However, limited information exists regarding the type of supports that are important to them. Understanding what supports are valued by autistic adolescents and adults will support occupational therapists deliver effective and individualised services. Therefore, this study aimed to identify what supports autistic adolescents and adults believed to be the most important to them. This study involved two anonymous online surveys. Survey one was completed by caregivers of autistic adolescents and/or adults. Survey two was completed by self-reporting autistic adults. Surveys included both open-ended and closed-answer responses to better understand the support needs of autistic individuals living in Australia. A total of 68 caregivers of autistic adolescents or adults and 59 self-reporting adults completed the survey resulting in 127 responses. Closed-answer response questions from both the caregivers and self-reporting autistic adolescents and adults showed that the highest support needs were for supporting participation in employment and supporting health and wellbeing. Open-ended response questions revealed six main priorities including, employment, promoting independence, supporting positive social and communication experiences, supporting health and wellbeing, caregiver support, and promoting autism acceptance. This study found that autistic individuals and their caregivers have a diverse range of priorities, all of which align with the scope of occupational therapy. Further, participant responses highlight the importance of therapists providing person and family-centred approaches tailored towards both the autistic person’s and their caregiver’s needs.

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11. Hussein MH, Alameen AA, Ansari MA, AlSharari SD, Ahmad SF, Attia MSM, Sarawi WS, Nadeem A, Bakheet SA, Attia SM. Semaglutide ameliorated autism-like behaviors and DNA repair efficiency in male BTBR mice by recovering DNA repair gene expression. Prog Neuropsychopharmacol Biol Psychiatry;2024 (Jul 18);135:111091.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is marked by impaired social interactions, and increased repetitive behaviors. There is evidence of genetic changes in ASD, and several of these altered genes are linked to the process of DNA repair. Therefore, individuals with ASD must have improved DNA repair efficiency to mitigate risks associated with ASD. Despite numerous milestones in ASD research, the disease remains incurable, with a high occurrence rate and substantial financial burdens. This motivates scientists to search for new drugs to manage the disease. Disruption of glucagon-like peptide-1 (GLP-1) signaling, a regulator in neuronal development and maintains homeostasis, has been associated with the pathogenesis and progression of several neurological disorders, such as ASD. Our study aimed to assess the impact of semaglutide, a new GLP-1 analog antidiabetic medication, on behavioral phenotypes and DNA repair efficiency in the BTBR autistic mouse model. Furthermore, we elucidated the underlying mechanism(s) responsible for the ameliorative effects of semaglutide against behavioral problems and DNA repair deficiency in BTBR mice. The current results demonstrate that repeated treatment with semaglutide efficiently decreased autism-like behaviors in BTBR mice without affecting motor performance. Semaglutide also mitigated spontaneous DNA damage and enhanced DNA repair efficiency in the BTBR mice as determined by comet assay. Moreover, administering semaglutide recovered oxidant-antioxidant balance in BTBR mice. Semaglutide restored the disrupted DNA damage/repair pathways in the BTBR mice by reducing Gadd45a expression and increasing Ogg1 and Xrcc1 expression at both the mRNA and protein levels. This suggests that semaglutide holds great potential as a novel therapeutic candidate for treating ASD traits.

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12. Kalkbrenner AE, Zheng C, Yu J, Jenson TE, Kuhlwein T, Ladd-Acosta C, Grove J, Schendel D. Method for Testing Etiologic Heterogeneity Among Non-Competing Diagnoses, Applied to Impact of Perinatal Exposures on Autism and Attention Deficit Hyperactivity Disorder. Epidemiology;2024 (Jul 18)

BACKGROUND: Testing etiologic heterogeneity – whether a disorder subtype is more or less impacted by a risk factor, is important for understanding causal pathways and optimizing statistical power. The study of mental health disorders especially benefits from strategic sub-categorization because these disorders are heterogenous and frequently co-occur. Existing methods to quantify etiologic heterogeneity are not appropriate for non-competing events in an open cohort of variable-length follow-up. Thus, we developed a new method. METHODS: We estimated risks from urban residence, maternal smoking during pregnancy, and parental psychiatric history, with subtypes defined by the presence or absence of a co-diagnosis: autism alone, attention deficit hyperactivity disorder (ADHD) alone, and joint diagnoses of autism+ADHD. To calculate the risk of a single diagnosis (e.g. autism alone), we subtracted the risk for autism+ADHD from the risk for autism overall. We tested the equivalency of average risk ratios over time, using a Wald-type test and bootstrapped standard errors. RESULTS: Urban residence was most strongly linked with autism+ADHD and least with ADHD only; maternal smoking was associated with ADHD only but not autism only; and parental psychiatric history exhibited similar associations with all subgroups. CONCLUSIONS: Our method allowed the calculation of appropriate p values to test strength of association, informing etiologic heterogeneity wherein two of these three risk factors exhibited different impacts across diagnostic subtypes. The method used all available data, avoided neurodevelopmental outcome misclassification, exhibited robust statistical precision, and is applicable to similar heterogeneous complex conditions using common diagnostic data with variable follow-up.

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13. Liu M, Jiang X, Zeng X, Guo Y, Zhang T, Fan X, Xu J, Wu Z, Pan D. A protective mechanism of heat inactivation to enhance Levilactobacillus brevis PDD-2 against alcohol-induced chronic liver disease based on proteomic analysis. Food Funct;2024 (Jul 18)

A proteomics-based analysis of the effect of heat inactivation on the alleviation of alcoholic liver disease (ALD) using Levilactobacillus brevis PDD-2 is presented, aimed at exploring the potential and mechanisms of postbiotic elements prepared through heat inactivation in the treatment of ALD. It was found that L. brevis PDD-2 and its postbiotic (heat-inactivated L. brevis PDD-2) alleviate chronic ALD via the gut-liver axis. In particular, heat-inactivated L. brevis PDD-2 significantly increased the relative abundance of Erysipelotrichaceae and better facilitated the oxidative stress balance in the liver. The tandem mass tag (TMT)-based quantitative proteomics technique analyses revealed that heat-inactivated L. brevis PDD-2 was associated with up-regulated expression levels of proteins related to the redox system, cellular metabolism, amino acid and oligopeptide transport, and surface proteins with immunomodulatory capacity. These findings provide a theoretical basis for developing novel therapeutic strategies and lay a solid foundation for further revealing its exhaustive mechanisms.

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14. Martin AM, Keehn B, Paxton A, Ciccarelli MR, McNally Keehn R. Associations Among Race, Ethnicity, and Clinical Profiles of Young Children Evaluated for Autism in the Primary Care Setting. J Dev Behav Pediatr;2024 (Jul 17)

OBJECTIVE: Despite long-standing racial and ethnic disparities in autism spectrum (AS) diagnosis, recent research suggests that overall, greater numbers of Black and Latine children are now diagnosed with AS as compared with non-Latine White (NLW) children in some US regions. However, gaps remain in the equitable detection of Black and Latine children with AS without significant developmental impairment. The objective of this study was to determine whether the clinical profiles of young children evaluated for AS across a statewide system of early autism diagnosis in Indiana vary by race and ethnicity. METHODS: We examined racial and ethnic differences in: (1) AS symptom severity, (2) developmental functioning, (3) adaptive functioning, and (4) behavior problems in a sample of 147 children, aged 14 to 48 months (M = 2.6 years), referred for AS evaluation. RESULTS: Clinical profiles of young children evaluated differed significantly by race and ethnicity, with Black and Latine children exhibiting lower developmental (p = 0.008) and adaptive abilities (p = 0.01) and higher AS symptoms (p = 0.03) as compared with NLW children. CONCLUSION: Potential explanations for findings include racial and ethnic differences in family and community awareness and knowledge about AS and follow-through on evaluation referral, both driven by social determinants of health (SDOH) affecting minoritized children. Bias in screening and assessment instruments and clinician surveillance, screening, and referral practices may also underlie differences in clinical profiles of children evaluated. Future research is needed to understand the SDOH that influence AS detection and diagnosis to improve equitable access to early diagnosis and intervention.

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15. Mohammed HE, Bady Z, Haseeb ME, Aboeldahab H, Sharaf-Eldin WE, Zaki MS. Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials. BMC Med;2024 (Jul 18);22(1):299.

BACKGROUND: Rett syndrome (RTT) is a rare, life-threatening, genetic neurodevelopmental disorder. Treatment in RTT encounters many challenges. Trofinetide, a modified amino-terminal tripeptide of insulin-like growth factor 1, has demonstrated clinically promising results in RTT. In this study, trofinetide efficacy and safety in RTT are systematically reviewed and meta-analyzed. METHODS: A systematic search of five electronic databases was conducted until January 2024. Review Manager 5.4 software was used for the analysis. The analysis was based on a weighted mean difference and standard error with a confidence interval (CI) of 95%, and a statistically significant P-value was considered if it was < 0.05. The study was registered on PROSPERO with registration number CRD42024499849. Quality of evidence was assessed using GRADE. RESULTS: Three randomized controlled trials (RCTs) with 276 patients were included in the analysis. Trofinetide improved both caregiver outcomes and clinical scales by improving the Rett Syndrome Behavior Questionnaire (RSBQ) (mean difference (MD): - 3.46 points, 95% CI: - 5.63 to - 1.27, P = 0.0002) and Clinical Global Impression Scale-Improvement (CGI-I) (MD: - 0.35, 95% CI: - 0.51 to - 0.18, P < 0.0001), respectively. However, trofinetide neither improved the Caregiver Top 3 Concerns Visual Analog Scale nor the Rett Motor Behavioral Assessment. Regarding safety, trofinetide was significantly associated with vomiting compared to placebo (odds ratio (OR): 3.17, 95% CI: 1.57 to 6.43, P = 0.001). After solving heterogeneity, results showed a statistically significant incidence of diarrhea in the trofinetide (200 mg) group compared to placebo (OR: 18.51, 95% CI: 9.30 to 36.84, P ≤ 0.00001). CONCLUSIONS: Trofinetide demonstrated statistically significant improvements in CGI-I and RSBQ in pediatrics and adult patients with Rett. Side effects are limited to vomiting and diarrhea. Although diarrhea yielded an insignificant result in our analysis, it emerged as a cause for treatment discontinuation in the participating trials, and a statistically significant risk for diarrhea emerged when excluding the study using a lower dose of the drug, hence causing heterogeneity, in the meta-analysis. Given the diverse genetic landscape of RTT, future RCTs investigating correlations between RTT genotype and phenotypic improvements by trofinetide will be beneficial. RCTs encompassing male patients with larger and longer cohorts are recommended.

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16. Moreau Q, Brun F, Ayrolles A, Nadel J, Dumas G. Distinct social behavior and inter-brain connectivity in Dyads with autistic individuals. Soc Neurosci;2024 (Jul 18):1-13.

Autism Spectrum Disorder (ASD) is defined by distinctive socio-cognitive behaviors that deviate from typical patterns. Notably, social imitation skills appear to be particularly impacted, manifesting early on in development. This paper compared the behavior and inter-brain dynamics of dyads made up of two typically developing (TD) participants with mixed dyads made up of ASD and TD participants during social imitation tasks. By combining kinematics and EEG-hyperscanning, we show that individuals with ASD exhibited a preference for the follower rather than the lead role in imitating scenarios. Moreover, the study revealed inter-brain synchrony differences, with low-alpha inter-brain synchrony differentiating control and mixed dyads. The study’s findings suggest the importance of studying interpersonal phenomena in dynamic and ecological settings and using hyperscanning methods to capture inter-brain dynamics during actual social interactions.

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17. Ömercioğlu E, Mert Karakaya EN, Özdemir G, Şencan Karakuş B, Kılınç Ş, İskender HC, Cihan Çam E, Mete Yeşil A, Çelik HT, Karahan S, Özmert EN. Has the COVID-19 pandemic negatively impacted children’s development? An assessment of the neurodevelopment of premature babies born during the pandemic. Turk J Pediatr;2024 (Jul 11);66(3):275-286.

BACKGROUND: Pandemics, such as COVID-19, have the potential to adversely affect children’s development due to a variety of negative factors at the level of children, families, and services. In this study the effect of the pandemic on the cognitive, language and motor development of premature babies who are among the most vulnerable group, were evaluated. METHODS: The study included 236 premature infants who were followed at Hacettepe University Department of Developmental Pediatrics. The Bayley-Third Edition Developmental Assessment (Bayley III) was used to evaluate the neurodevelopment of 152 premature infants from the pre-pandemic group and 84 from the post-pandemic group at the corrected age of 18-24 months. The perinatal and sociodemographic risks were also evaluated. RESULTS: No difference in Bayley III scores (cognitive, language, and motor) was found between the pre- and post-pandemic groups. Furthermore, the multivariate covariance analysis displayed that regardless of the pandemic, infants with higher maternal education consistently scored higher in the cognitive, language, and motor domains; and the motor area scores of infants with moderate perinatal risk were also significantly higher than infants with high perinatal risk. CONCLUSIONS: It is crucial to monitor the development of vulnerable children who encounter developmental risks, such as premature babies. Fortunately, no significant effect was encountered during the COVID-19 pandemic. However, this does not underweigh the need for close supervision in extraordinary circumstances. Additionally, it should be noted that severe postnatal comorbidities, perinatal risks, and social factors, such as maternal education level, interact to influence the neurodevelopmental outcomes of preterm infants.

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18. Öztürk D, Aydoğan S, Kök İ, Akın Bülbül I, Özdemir S, Özdemir S, Akay D. Linguistic summarization of visual attention and developmental functioning of young children with autism spectrum disorder. Health Inf Sci Syst;2024 (Dec);12(1):39.

Diagnosing autism spectrum disorder (ASD) in children poses significant challenges due to its complex nature and impact on social communication development. While numerous data analytics techniques have been proposed for ASD evaluation, the process remains time-consuming and lacks clarity. Eye tracking (ET) data has emerged as a valuable resource for ASD risk assessment, yet existing literature predominantly focuses on predictive methods rather than descriptive techniques that offer human-friendly insights. Interpretation of ET data and Bayley scales, a widely used assessment tool, is challenging for ASD assessment of children. It should be understood clearly to perform better analytic tasks on ASD screening. Therefore, this study addresses this gap by employing linguistic summarization techniques to generate easily understandable summaries from raw ET data and Bayley scales. By integrating ET data and Bayley scores, the study aims to improve the identification of children with ASD from typically developing children (TD). Notably, this research represents one of the pioneering efforts to linguistically summarize ET data alongside Bayley scales, presenting comparative results between children with ASD and TD. Through linguistic summarization, this study facilitates the creation of simple, natural language statements, offering a first and unique approach to enhance ASD screening and contribute to our understanding of neurodevelopmental disorders.

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19. Pang F, Yang L, Tse CY, Sin KF. Assessing the Relationship Between Teacher Inclusive Beliefs, Behaviors, and Competences of Students with Autism Spectrum Disorders. J Autism Dev Disord;2024 (Jul 17)

This study examined the associations between teachers’ beliefs and behaviors related to inclusive education (IE) and their evaluations of social and academic competences in students with Autism Spectrum Disorder (ASD) – important indicators of IE. Utilizing the Theory of Planned Behavior (TPB), the research investigated how teachers’ intentions to implement IE and their supportive practices affected the social and academic competences of students with ASD. The study involved 267 teachers from 78 mainstream secondary schools in Hong Kong. Teachers completed a questionnaire assessing attitudes, subjective norms, perceived behavioral control, and intention to implement IE. Information on teachers’ practices supporting students with ASD and their evaluations of social and academic competences of these students was also collected. Structural equation modeling (SEM) was used to analyze the relationships between these variables. Correlation analysis revealed positive and significant associations between teachers’ beliefs, inclusive practices, and their evaluations of social and academic competences of students with ASD. SEM indicated that perceived behavioral control significantly and positively influenced the social and academic competences of students with ASD through teachers’ inclusive practices. This study highlights the vital role of teachers’ control beliefs and inclusive practices in fostering the social and academic competences of students with ASD. By applying the TPB and SEM, the research contributes to understanding how teachers’ intentions and behaviors in implementing IE impact students’ outcomes. The findings offer practical implications for enhancing inclusive education practices for supporting students with ASD in mainstream schools.

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20. Pantouli F, Pujol CN, Derieux C, Fonteneau M, Pellissier LP, Marsol C, Karpenko J, Bonnet D, Hibert M, Bailey A, Le Merrer J, Becker JAJ. Acute, chronic and conditioned effects of intranasal oxytocin in the mu-opioid receptor knockout mouse model of autism: Social context matters. Neuropsychopharmacology;2024 (Jul 17)

Autism Spectrum Disorders (ASD) are neurodevelopmental disorders whose diagnosis relies on deficient social interaction and communication together with repetitive behaviours. Multiple studies have highlighted the potential of oxytocin (OT) to ameliorate behavioural abnormalities in animal models and subjects with ASD. Clinical trials, however, yielded disappointing results. Our study aimed at assessing the behavioural effects of different regimens of OT administration in the Oprm1 null mouse model of ASD. We assessed the effects of intranasal OT injected once at different doses (0.15, 0.3, and 0.6 IU) and time points (5, 15, and 30 min) following administration, or chronically, on ASD-related behaviours (social interaction and preference, stereotypies, anxiety, nociception) in Oprm1(+/+) and Oprm1(-/-) mice. We then tested whether pairing intranasal OT injection with social experience would influence its outcome on ASD-like symptoms, and measured gene expression in the reward/social circuit. Acute intranasal OT at 0.3 IU improved social behaviour in Oprm1(-/-) mice 5 min after administration, with limited effects on non-social behaviours. Chronic (8-17 days) OT maintained rescuing effects in Oprm1 null mice but was deleterious in wild-type mice. Finally, improvements in the social behaviour of Oprm1(-/-) mice were greater and longer lasting when OT was administered in a social context. Under these conditions, the expression of OT and vasopressin receptor genes, as well as marker genes of striatal projection neurons, was suppressed. We detected no sex difference in OT effects. Our results highlight the importance of considering dosage and social context when evaluating the effects of OT treatment in ASD.

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21. Paolizzi E, Perzolli S, Bentenuto A, Bertamini G, Venuti P. Characterization of dyadic interaction features between fathers and mothers playing with their autistic children. Acta Psychol (Amst);2024 (Jul 18);248:104411.

BACKGROUND: Socio-communicative difficulties are a core symptom of autism that deeply impact interaction with others. Despite that, research on bidirectional caregiver-child interaction variables has been notably scant and predominantly focused on autistic children’s interactive differences and the consequences on parenting behaviors. AIM: The study aimed to assess parent-child interaction in the context of autism through observational validated instruments that consider qualitative and structural features in a complementary way to obtain a comprehensive characterization of the exchange within the dyad. METHODS AND PROCEDURES: This study involved 56 paired parent-child dyads of 28 autistic children (mean age = 38.60 months, sd = 9.50) playing with their mothers and their fathers for 10 min. The video-recorded sessions were coded through the Emotional Availability Scales (EAS) and the Interpersonal Synchrony (IS) coding system. OUTCOMES AND RESULTS: Fathers and mothers do not show significant differences in ISexcept for mother widenings, which are more frequent and successful, and in Emotional Availability. Further, dyads present moderate levels of Emotional Availability, indicating that parents may struggle with structuring, sensitivity, and interactive abilities with their autistic children, which in turn present low levels of responsiveness and involvement. Further, we explored an association between IS and EA characteristics. CONCLUSION AND IMPLICATIONS: This study suggests the need for interventions to target interaction considering both caregivers, ultimately targeting both interaction structure and affect features. Research that includes fathers fosters strategies for individualization and treatment optimization.

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22. Robeson M, Hayes K, Rossetti K, Ahlich E, Zlomke K. What is in a Day? Investigating the Relationship Between Sleep Quality and Quality of Life Among Caregivers of Children With Autism. J Dev Behav Pediatr;2024 (Jul 18)

OBJECTIVE: The purpose of this study was to investigate the relationship between sleep quality and quality of life (QOL), or overall level of well-being, in caregivers of children with autism spectrum disorder (ASD) on the daily level. METHOD: This study utilizes mobile ecological momentary assessment (mEMA) to capture daily experiences of caregivers of children with ASD over a period of 14 days. Utilizing mEMA, this study examines relations between sleep quality and QOL and the role of mood and physical health as mediators on the daily level, specifically for caregivers of children with ASD (n = 51). The data were analyzed using multilevel modeling by MLMed macro. RESULTS: The results suggest that there is a significant positive relation between sleep quality and QOL across individuals. Surprisingly, there was a negative relation between sleep quality and QOL within individuals. The positive relationship between sleep quality and QOL across participants was explained through positive mood across individuals. Furthermore, this relationship also occurred through better physical health across and within individuals. CONCLUSION: For caregivers of children with ASD, daily positive mood and better physical health explain the relationship between daily sleep quality and QOL. Understanding daily experiences of caregivers of children with ASD may inform interventions and practices aimed at improving sleep and its associated outcomes to ultimately improve caregiver well-being.

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23. Ryan G, Watchorn V, Evans S. Occupational therapy experiences of interprofessional collaboration in the support of autistic children. Aust Occup Ther J;2024 (Jul 18)

INTRODUCTION: Autistic children commonly receive simultaneous services from various health-care and other professionals, including occupational therapy, throughout their journey of diagnosis and consequent therapeutic support. Current best practice guidelines for supporting autistic youth emphasise the importance of interprofessional collaboration. Despite this, collaboration among health-care professionals does not always occur, and little is understood about clinicians’ experiences of collaborative care. The aim of this study was to explore Australian paediatric occupational therapists’ experiences of interprofessional collaboration and their perception of factors influencing collaboration when supporting autistic children. METHODS: This study employed an exploratory qualitative descriptive design. Semi-structured interviews were conducted with 13 Australian paediatric occupational therapists involved in service provision to autistic children. Questions explored clinicians’ experiences and perceptions of interprofessional collaboration. Reflexive thematic analysis was used to inductively analyse data. CONSUMER AND COMMUNITY CONSULTATION: This study was conceptualised and conducted by a team of researchers with a range of personal and professional experiences with the autistic community. The research design was strongly informed by the Autism CRC’S research guidelines. FINDINGS: Three themes were generated highlighting factors that influence collaboration between occupational therapists and other professionals. The first emphasised that ‘clinicians’ capacity to collaborate’ at both organisational and individual levels was understood to be greatly influenced by funding structures. The second emphasised that ‘relationships are key to collaboration’ with these often established through shared workplaces or clients. The third, ‘shared perceptions make collaboration easier’ described how shared perceptions of collaboration, the occupational therapy role, and autism-related frames of reference were perceived to influence interprofessional collaboration. CONCLUSION: Findings indicate that, while occupational therapists perceive interprofessional collaboration as valuable in the support of autistic children, there are barriers to effective collaboration, particularly in the context of a marketised service delivery model. PLAIN LANGUAGE SUMMARY: This study looked at how Australian occupational therapists work with other professionals to support autistic children. Even though it is recommended that professionals work together to support autistic children and their families, this does not always happen. In this study, researchers interviewed 13 occupational therapists and asked what it is like working with other professionals, what is helpful, and what makes working together difficult. From these interviews, it was found that many things affect how well occupational therapists can work with other health professionals and teachers to support autistic children. Factors like funding and workplace rules affect how professionals work together. Having someone take on the role of leader and having good relationships between professionals made it easier to work together. It was also helpful when occupational therapists and other professionals shared similar ideas on how to support autistic children. The study could be improved if it had gathered more information about the occupational therapists’ education and what they have learnt about working with other professionals. Overall, the therapists in this study believed that working together to support autistic children and their families was important, but that there are many challenges to making this happen. More research on this topic would be helpful.

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24. Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Antony I, Qian X, Bonacina J, Papandile F, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk. Cell Genom;2024 (Jul 12):100609.

Little is known about the role of non-coding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of non-coding regions: human accelerated regions (HARs), which show signatures of positive selection in humans; experimentally validated neural VISTA enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole-genome analysis of >16,600 samples and >4,900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly contribute, if at all, in simplex family structures. We identified multiple patient variants in HARs near IL1RAPL1 and in VEs near OTX1 and SIM1 and showed that they change enhancer activity. Our results implicate both human-evolved and evolutionarily conserved non-coding regions in ASD risk and suggest potential mechanisms of how regulatory changes can modulate social behavior.

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25. Whipple J, Schwartzberg ET. Approaches, Goals, and Scientific Integrity in Music Therapy Research with Individuals on the Autism Spectrum: An Integrative Review. J Music Ther;2024 (Jul 17)

Scientific integrity is fundamental to evidence-based practice (EBP) and essential in music therapy (MT) research and clinical practice. Researchers conducted an integrative review of approaches and interventions employed by music therapists (MTs) with individuals on the autism spectrum in the context of how studies are analyzed by the National Autism Center (NAC) and National Clearinghouse on Autism Evidence and Practice (NCAEP). Researchers identified 880 database records meeting initial search criteria (i.e., autism spectrum disorder, autism, PDD-NOS, MT, and music interventions); 36 studies remained after screening for duplication, topic relevance, and adherence to inclusion criteria. Included studies were published between 1964 and 2021, in English language, in free open-access journals, worldwide; peer reviewed; conducted by MTs; empirical quantitative, qualitative, or mixed-methods design; intervention-based; and presented separate data for participants on the autism spectrum. Content and quantitative analyses identified deficits in scientific integrity and the following gaps in studies reviewed: Motor Skills and Placement (NAC-defined intervention targets), Computer-based and Songwriting and Composition (MT techniques), and Wellness and Bonny Method of Guided Imagery in Music (clinical approaches); no patterns were evident among NAC Interventions with MT techniques and approaches. Analysis of 5-point Scientific Merit Ratings yielded a mean 2.78 rating. A comparison of NAC and NCAEP terminology (i.e., how MT researchers report independent variables) indicated eight titles mention specific non-music interventions, 19 mention MT, 14 include music-based technique descriptors, and two mention both non-music interventions and MT. Researchers offer guidelines regarding identity-inclusive language, scientific integrity, and clarity of EBPs within MT intervention research with individuals on the autism spectrum.

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26. Xue J, Zhu Y, Pan Y, Huang H, Wei L, Peng Y, Xi H, Zhou S, Wu H, Gu Z, Huang W, Wang H, Duan R. Strategic Implementation of Fragile X Carrier Screening in China: A Focused Pilot Study. J Mol Diagn;2024 (Jul 18)

Fragile X syndrome (FXS) is the leading genetic cause of intellectual disability and autism spectrum disorders. Female premutation carriers exhibit no obvious symptoms during reproductive age, but the premutation allele can expand to full mutation when transmitted to the fetus.. Given the relatively low prevalence but large population, the distinct healthcare system, the middle-income economic status, and low awareness among public and medical professionals, the optimal genetic screening strategy remains unknown. We conducted a pilot study of Fragile X carrier screening in China, involving 22,245 pregnant women and women with childbearing intentions, divided into control and pilot groups. The prevalence of Fragile X carriers in the control group was 1/850, similar to East Asian populations. Strikingly, the prevalence of Fragile X carriers in the pilot group was 1/356, which can be attributed to extensive medical training, participant education, and rigorous genetic counseling and testing protocols. Cost-effectiveness analyses of four strategies-no screening, population-based screening, targeted screening, and our pilot screening-indicated that our pilot screening was the most cost-effective option. A follow-up survey revealed that 55% of respondents reported undergoing screening due to their family history. We have successfully established a standardized system, addressing the challenges of low prevalence, limited awareness, and genetic testing complexities. Our study provides practical recommendations for implementing Fragile X carrier screening in China.

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