1. Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing. Am J Med Genet A;2024 (May 22):e63725.

Typical (or classic) Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a period of regression, partial or complete loss of purposeful hand movements, and acquired speech, impaired gait, and stereotyped hand movements. In over 95% of typical RTT, a pathogenic variant is found in the methyl-CPG binding protein 2 gene (MECP2). Here, we describe a young woman with clinically diagnosed typical RTT syndrome who lacked a genetic diagnosis despite 20 years of investigation and multiple rounds of sequencing the MECP2 gene. Recently, additional genetic testing using next-generation sequencing was completed, which revealed a partial insertion of the BCL11A gene within exon 4 of MECP2, resulting in a small deletion in MECP2, causing likely disruption of MeCP2 function due to a frameshift. This case demonstrates the ever-changing limitations of genetic testing, as well as the importance of continual pursuit of a diagnosis as technologies improve and are more widely utilized.

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2. Aishworiya R, Saw YE, Chan YH, Chong SC, Kiing JSH, Tan MY, Lim TSH, Mulay KV, Kang YQ. Quality of Life and Its Associated Correlates of Parents of Children on the Autism Spectrum in Singapore. J Autism Dev Disord;2024 (May 21)

This cross-sectional study aimed to assess Quality of life (QoL) of parents of children on the autism spectrum in Singapore and identify its associated factors. Parents of children (age ≥ 5 years) completed the Quality of Life in Autism scale which measures parental self-rated QoL (higher scores denote greater QoL), and the perceived impact of the child’s autism-related behaviors on parents (higher scores denote lesser impact). Information on the child’s degree of autism (measured by the Social Responsiveness Scale, second edition [SRS-2]), community and social participation and cognitive and adaptive functioning were also obtained. Participants were 86 parents with mean child age 6.3 years (SD 1.0). Univariate analysis results revealed greater participation in community and social events to be two modifiable factors associated with higher parental QoL. However, these factors were not found to be significant in the multivariate model. Higher autism features (represented by higher parent-rated SRS scores) was associated with a greater perceived impact of the child’s behaviors by parents in both univariate and multivariate analyses. Of note, child’s cognitive or adaptive skills were not significantly associated with either QoL measure. Equipping parents to handle autism-related behaviors can be useful to reduce their impact on parental QoL. Facilitating community participation for these children may positively influence caregiver QoL as well.

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3. Ashraf MM, Ul-Haque I, Sangha NK. Navigating autism treatment: unlocking new frontiers with ChatGPT. Int J Neurosci;2024 (May 22):1-2.

Autism Spectrum disorder is a significant neurodevelopmental behavioral disorder. Children with Autism display a wide array of ambiguous symptoms resulting making the diagnosis quite challenging thus resulting in delayed management. Traditionally, its diagnosis and management require the collaboration of services from the three P’s namely the pediatrician, psychiatrist, and child psychologist. The management requires an intensive multi-disciplinary approach which would help minimize the disease symptoms and facilitate development and learning during childhood. Recently, with the advent of widespread testing and usage of various artificial intelligence tools across various domains, AI tools such as Chatbots are being incorporated into medical treatments, especially in behavioral therapy. Considering the increasing use of AI, we believe that the natural language processing techniques employed by ChatGPT algorithms have the potential to identify speech and linguistic patterns in children with ASD. Therefore, through this letter, we have tried to explore the scope of Artificial intelligence (ChatGPT) for behavioral therapy in children affected with autism spectrum disorder.

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4. Cai CQ, White SJ, Chen SHY, Mueller MAE, Scott SK. Autistic adults perceive and experience laughter differently to non-autistic adults. Sci Rep;2024 (May 21);14(1):11590.

Human interaction is immersed in laughter; though genuine and posed laughter are acoustically distinct, they are both crucial socio-emotional signals. In this novel study, autistic and non-autistic adults explicitly rated the affective properties of genuine and posed laughter. Additionally, we explored whether their self-reported everyday experiences with laughter differ. Both groups could differentiate between these two types of laughter. However, autistic adults rated posed laughter as more authentic and emotionally arousing than non-autistic adults, perceiving it to be similar to genuine laughter. Autistic adults reported laughing less, deriving less enjoyment from laughter, and experiencing difficulty in understanding the social meaning of other people’s laughter compared to non-autistic people. Despite these differences, autistic adults reported using laughter socially as often as non-autistic adults, leveraging it to mediate social contexts. Our findings suggest that autistic adults show subtle differences in their perception of laughter, which may be associated with their struggles in comprehending the social meaning of laughter, as well as their diminished frequency and enjoyment of laughter in everyday scenarios. By combining experimental evidence with first-person experiences, this study suggests that autistic adults likely employ different strategies to understand laughter in everyday contexts, potentially leaving them socially vulnerable in communication.

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5. Choi A, Lee H, Jeong HE, Lee SY, Kwon JS, Han JY, Choe YJ, Shin JY. Association between exposure to antibiotics during pregnancy or early infancy and risk of autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children: population based cohort study. Bmj;2024 (May 22);385:e076885.

OBJECTIVE: To evaluate the association between antibiotic use during pregnancy or early infancy and the risk of neurodevelopmental disorders in children. DESIGN: Nationwide population based cohort study and sibling analysis. SETTING: Korea’s National Health Insurance Service mother-child linked database, 2008-21. PARTICIPANTS: All children live born between 2009 and 2020, followed up until 2021 to compare those with and without antibiotic exposure during pregnancy or early infancy (first six months of life). MAIN OUTCOMES MEASURES: Autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children. After 1:1 propensity score matching based on many potential confounders, hazard ratios with 95% confidence interval were estimated using Cox proportional hazard models. A sibling analysis additionally accounted for unmeasured familial factors. RESULTS: After propensity score matching, 1 961 744 children were identified for the pregnancy analysis and 1 609 774 children were identified for the early infancy analysis. Although antibiotic exposure during pregnancy was associated with increased risks of all four neurodevelopmental disorders in the overall cohort, these estimates were attenuated towards the null in the sibling analyses (hazard ratio for autism spectrum disorder 1.06, 95% confidence interval 1.01 to 1.12; intellectual disorder 1.00, 0.93 to 1.07; language disorder 1.05, 1.02 to 1.09; and epilepsy 1.03, 0.98 to 1.08). Likewise, no association was observed between antibiotic exposure during early infancy and autism spectrum disorder (hazard ratio 1.00, 0.96 to 1.03), intellectual disorder (1.07, 0.98 to 1.15), and language disorder (1.04, 1.00 to 1.08) in the sibling analyses; however, a small increased risk of epilepsy was observed (1.13, 1.09 to 1.18). The results generally remained consistent across several subgroup and sensitivity analyses, except for slightly elevated risks observed among children who used antibiotics during very early life and those who used antibiotics for more than 15 days. CONCLUSIONS: In this large cohort study, antibiotic exposure during pregnancy or early infancy was not associated with an increased risk of autism spectrum disorder, intellectual disorder, or language disorder in children. However, elevated risks were observed in several subgroups such as children using antibiotics during very early life and those with long term antibiotic use, which warrants attention and further investigation. Moreover, antibiotic use during infancy was modestly associated with epilepsy, even after control for indications and familial factors. When prescribing antibiotics to pregnant women and infants, clinicians should carefully balance the benefits of use against potential risks.

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6. Du X, Sun L, Dong Q. A family perspective for the mechanism of parent-child conflict on maternal anxiety in Chinese children with autism. BMC Psychol;2024 (May 22);12(1):286.

BACKGROUND: Mothers of children with autism reported higher levels of anxiety than mothers of typical children. This study revealed the relationship between parent-child conflict, children’s problem behavior, parenting stress, and maternal anxiety from the perspective of the relationship within the family. METHODS: The State-Trait Anxiety Inventory (STAI) and Caregiver Strain Questionnaire (CGSQ) were used to measure maternal anxiety and parenting stress respectively from 102 mothers of children with autism. We also collected information on parent-child relationships and children’s problem behaviors by using the Child-Parent Relationship Scale (CPRS) and Conners Parent Symptom Questionnaire (PSQ). RESULTS: Parent-child conflict positively predicted state and trait anxiety in mothers of children with autism. The severity of children’s psychosomatic disorders fully mediated the positive association between parent-child conflict and state-trait anxiety in mothers of children with autism. Parenting stress significantly moderated the impact of parent-child conflict on maternal state anxiety and trait anxiety. CONCLUSION: In the case of children with autism spectrum disorders, parent-child conflict can directly affect maternal anxiety levels, especially when mothers have low levels of parenting stress. Parent-child conflict can also affect children’s problem behaviors and thus indirectly affect maternal anxiety. Therefore, this study is of great significance for the alleviation of anxiety of mothers of autistic children and the family intervention for the early rehabilitation of autistic children.

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7. Enav Y, Knudtson M, Goldenberg A, Gross JJ. Effect of partner presence on emotion regulation during parent-child interactions. Sci Rep;2024 (May 22);14(1):11732.

Having people around, especially if they provide social support, often leads to positive outcomes both physically and mentally. Mere social presence is especially beneficial when it comes from a loved one or romantic partner. In these studies, we aim to expand the understanding of how the presence of one’s romantic partner affects emotion regulation in parental situations. Specifically, we examined how partner presence influences the parent’s emotional intensity, emotion regulation, and interpretation of their child’s emotion regulation. We examined these questions in parents of both non-autistic children (Study 1) as well as autistic children (Study 2), which we hypothesize leads to more intense emotional interactions. The parents of autistic children were better able to regulate their emotions when their partners were present compared to when they were absent. Furthermore, in both studies, parents’ ratings of their children’s ability to regulate their emotions were higher when their parent’s partner was present compared to when the partner was absent. However, in both studies, we found no significant difference in the parents’ emotional intensity when their partners were present compared to when their partners were absent during the emotionally charged interaction with their child. Our findings help highlight the impact of partner presence on parent and child emotion regulation.

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8. Hong S, Lee Y, Park W. Evaluating the delivery of physical activity for people with developmental disabilities using an online knowledge translation approach: part 2 – content quality. Disabil Rehabil Assist Technol;2024 (May 22):1-9.

OBJECTIVE: Web-based platforms for delivering physical activity (PA) to people with developmental disabilities have a great potential to improve the lives of many. However, their design, including the content design, lacks sufficient investigation. This study aims to evaluate three online platforms for delivering PA to people with developmental disabilities in terms of content quality and identify relevant barriers and facilitators of PA delivery. METHODS: The study used a methodological triangulation approach which involved quantitative evaluations by experts using an evaluation rubric, on-site observations and in-depth interviews with recruited participants. The participants consisted of 15 pairs of individuals, each consisting of a person with developmental disabilities and their primary caregiver. They were instructed to watch and follow five PA video content from each of the three platforms. The on-site observations and interviews were conducted in a large computer-equipped meeting room setting. RESULTS: The quantitative and qualitative analysis identified a set of barriers and facilitators of PA delivery related to content quality. Key barriers identified include a lack of content diversity, insufficient understanding of developmental disabilities among content creators, inappropriate language usage, and resistance to engaging in physical activities in home settings. Significant facilitators were pinpointed, such as incorporating engaging elements for individuals with developmental disabilities, utilising easy-read language, and ensuring sufficient repetition for effective learning. The results from the triangulation showed that the multiple methods were complementary and converged on the same outcome. DISCUSSION: The study findings could contribute to the development of adequately adapted PA content to distribute knowledge to populations with developmental disabilities. Content delivered via online platforms has the potential to convey knowledge about physical activity to a significant number of individuals with developmental disabilities without the limitations of time and space.The absence of prescribed content guidelines to effectively impart physical activity to individuals with developmental disabilities impedes the process of online knowledge translation.There is a requirement for varied physical activity content encompassing various individuals with developmental disabilities, considering their diverse learning contexts.It is essential that content development is evaluated with input from experts in developmental disabilities in order to provide quality physical activity information for people with developmental disabilities. eng

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9. Hutchins TL, Knox SE, Fletcher EC. Natural language acquisition and gestalt language processing: A critical analysis of their application to autism and speech language therapy(). Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241249944.

BACKGROUND AND AIM: Recently, there has been a lot of interest surrounding the term gestalt language processor (GLP) which is associated with Natural Language Acquisition (NLA): a protocol intended to support the language development of autistic people. In NLA, delayed echolalia is presumed raw source material that GLPs use to acquire language in a stage-like progression from delayed echolalia to spontaneous speech. The aim of this article is to evaluate NLA in light of relevant literatures to allow scrutiny of NLA claims. MAIN CONTRIBUTIONS: First, we review the notion of gestalt language and situate it in the broader literature on language styles to update understanding of its significance. We then review the links from gestalt language processing to autism and identify definitional and conceptual problems and clarify the construct ‘episodic memory’. We discuss the ‘raw material view of delayed echolalia’ and identify theoretical and empirical shortcomings. Finally, we review Blanc’s language stages and their accompanying assessment and language support recommendations and challenge their validity. CONCLUSIONS & IMPLICATIONS: The term ‘gestalt language processor’ is definitionally and conceptually troubled, the assertion that autistic people are GLPs is misleading and unhelpful, and evidence is lacking that GLP represents a legitimate clinical entity. The theoretical basis of NLA lacks empirical support. NLA stages are implausible and their accompanying assessment and support recommendations lack justification. We recommend the use of alternate, individualized, theoretically-sound, evidence-based, neurodiversity-affirming supports that are sensitive and responsive to the heterogeneity that defines autism.

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10. LaPoint SC, Kim SY, Bottema-Beutel K. Barriers to Providing Transitional Supports for Autistic Students: Insights of School Professionals. J Autism Dev Disord;2024 (May 21)

Following high school exit, many autistic young adults are not enrolled in post-secondary education or employed, and few are engaged in community activities. This disengagement among autistic young adults may be a result of the limited or inadequate supports provided to autistic transition-age youth in schools. Therefore, the purpose of the current study is to explore how school professionals report preparing transition-age autistic youth for adulthood and the barriers that make it difficult for school professionals to provide quality transition services. We surveyed 21 school professionals who work with transition-age autistic students. The survey solicited descriptions of transition supports provided to youth, and barriers that make it difficult for school professionals to provide high quality transition supports. Qualitative content analysis was used to identify themes from the data. Participants described barriers related to the autistic youth they taught or supported, their families, the classroom environment, and the community. Barriers were either framed as deficits inherent to autistic students and their families, or larger systemic issues that make it challenging to implement high quality transition supports. We recommend implementation of autism-specific trainings within teacher preparation programs and school districts, professional development opportunities that create spaces for educators to challenge and resist deficit views of autism, and development of strengths-based transition programs that are implemented by school-based professionals who work with autistic students.

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11. Lee IO, Wolstencroft J, Housby H, van den Bree MBM, Chawner S, Hall J, Skuse DH. The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities. J Intellect Disabil Res;2024 (May 22)

BACKGROUND: Children and young people (CYP) with intellectual and developmental disabilities (IDDs) have significant additional educational needs compared with the general population. In England, the government has established a system of education, health and care plans (EHCPs) to support children with special educational needs and disabilities, but disparities exist between the degree of need and the availability of support. We conducted a prospective UK national cohort study (IMAGINE) of children with rare pathogenic genomic variants, all of which are associated with IDD, to investigate associated neuropsychiatric risk. Subsequently, we obtained information from the UK’s National Pupil Database on their educational progress through the state school system. We aimed to identify whether they had received EHCP provision and whether that support was associated with their family’s socioeconomic status, region of domicile, ethnicity, sex, primary special educational needs (SEN) type, academic performance and mental health well-being. METHODS: We recruited 2738 CYP from England into the IMAGINE study between 2014 and 2019. The educational histories of the participants (6-28 years old, mean ± standard deviation = 14 ± 4 years, 56% male) were obtained from the Department for Education’s National Pupil Database in 2021. Educational data included attainment scores from the Early Year Foundation Stage (<5 years) to key stage 4 (15-16 years). Each family was assigned an index of multiple deprivation (IMD) score based on their home address postcode. Parents or carers rated their child's emotional and behavioural adjustment on the Strengths and Difficulties Questionnaire (SDQ). The association between receiving an EHCP and the child's IMD score, eligibility for free school meals, English region of domicile, ethnicity, sex, primary SEN type, academic attainment and SDQ score was investigated. RESULTS: In this cohort, 78% of participants had received an EHCP. CYP living in the most deprived IMD deciles were substantially less likely to receive EHCP support than those in the least deprived decile, irrespective of their degree of intellectual developmental disability, academic performance or associated mental health problems. There were no sex differences. Children of Asian heritage were more likely to have been granted an EHCP than White children from equivalent IMD deciles. There were striking regional disparities. Participants living in London were significantly more likely to have been awarded an EHCP than participants living anywhere else in England, regardless of their IMD decile; those in the least deprived decile had almost 100% EHCP provision. CONCLUSIONS: This study found evidence for nationwide regional inconsistencies in the awarding of EHCP to CYP with significant intellectual impairments of known genetic aetiology. Disparities in funds available to education authorities could be a contributory factor. EHCP support was potentially influenced by how strongly a parent advocates for their child.

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12. Liu C, Guo Z, Pang J, Zhang Y, Yang Z, Cao J, Zhang T. Administration of Atosiban, an oxytocin receptor antagonist, ameliorates autistic-like behaviors in a female rat model of valproic acid-induced autism. Behav Brain Res;2024 (May 22);469:115052.

Autism spectrum disorder (ASD) is a pervasive developmental disorder with gender differences. Oxytocin (OXT) is currently an important candidate drug for autism, but the lack of data on female autism is a big issue. It has been reported that the effect of OXT is likely to be different between male and female ASD patients. In the study, we specifically explored the role of the OXT signaling pathway in a VPA-induced female rat’s model of autism. The data showed that there was an increase of either oxytocin or its receptor expressions in both the hippocampus and the prefrontal cortex of VPA-induced female offspring. To determine if the excess of OXT signaling contributed to autism symptoms in female rats, exogenous oxytocin and oxytocin receptor antagonists Atosiban were used in the experiment. It was found that exogenous oxytocin triggered autism-like behaviors in wild-type female rats by intranasal administration. More interestingly, several autism-like deficits including social interaction, anxiety, and repeat stereotypical sexual behavior in the VPA female offspring were significantly attenuated by oxytocin receptor antagonists Atosiban. Moreover, Atosiban also effectively improved the synaptic plasticity impairment induced by VPA in female offspring. Our results suggest that oxytocin receptor antagonists significantly improve autistic-like behaviors in a female rat model of valproic acid-induced autism.

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13. Marquis S, Marquis NE, Lunsky Y, McGrail KM, Baumbusch J. A retrospective cohort study of prescription drug use among youth with intellectual/developmental disabilities in British Columbia. J Intellect Disabil Res;2024 (May 21)

BACKGROUND: People with intellectual/developmental disabilities (IDD) are known to have high rates of prescription drug use, particularly for psychotropic medications. This is of concern due to the many side effects associated with these medications and because of the risks of polypharmacy. In this paper we compare the most commonly dispensed drugs and all psychotropic medications for youth with IDD compared with youth without IDD. METHODS: Using population-level administrative health data over a 10-year period, this study examined medications dispensed to youth with an IDD aged 15-24 years compared with youth without an IDD. The most common medications dispensed and the number of youth they were dispensed to were determined. As well a wide variety of psychotropic medications were examined. RESULTS: There were a total of 20 591 youth with IDD and 1 293 791 youth without IDD identified. Youth with IDD had higher odds of being dispensed pain medications, amoxicillin, salbutamol, levothyroxine and all the psychotropic medications (antidepressants, antipsychotics, anxiolytics, anti-adrenergic agents, mood stabilisers and stimulants). For youth with IDD, 6558 (31.85%) were dispensed two or more different psychotropic medications within a year, compared with 75 963 (5.87%) of youth without IDD. DISCUSSION: Compared to youth without IDD, youth with IDD had significantly higher odds of being dispensed most of the prescription medications studied, including all of the psychotropic medications. They were also twice as likely to be dispensed two or more medications from different classes of psychotropic drugs within the same year. These findings have important implications for the health of people with IDD and for their health care providers.

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14. Narula V, Goswami M, Juneja M, Kumar G. Comparative Evaluation of Oral Health Status and Treatment Needs of Children With Autism Spectrum Disorder: A Cross-Sectional Study. Cureus;2024 (Apr);16(4):e58663.

INTRODUCTION: Oral health care is essential yet challenging in children with autism spectrum disorder (ASD) due to their impaired emotional and behavioral stability, lack of communication skills, and inability to perform daily home hygiene routines properly. The present study was planned with the aim of assessing the Oral Health Status and Treatment Needs of children with ASD in comparison with children without any systemic disease. METHODS: A total of 160 children, in the age group of 5-14 years, divided equally into two groups, i.e., Group A (children with ASD) and Group B (children without any systemic disease), were assessed for Dental caries, Oral Hygiene Status, and Treatment Needs. The behavior of children in each group, during oral examination, was also assessed and recorded. Student t test and Chi square test were used for quantitative and qualitative analysis, respectively. RESULTS: The mean age of participating children was 7.96±2.43 years with a male predominance (male to female ratio – 1.58:1). Children with ASD displayed more negative behavior with 15% showing definitely negative behavior, 21.2% negative behavior on Frankl’s Behavior Rating scale; the statistically lower prevalence of dental caries (Group A – mean decayed, missing and filled primary teeth (dmft): 1.7±3.2, mean decayed, missing and filled permanent teeth (DMFT): 0.19±0.71; Group B – mean DMFT: 5.44±4.88, mean DMFT: 1.01±1.51; p=0.0001), better oral hygiene (Group A – 18.8% showed good Simplified Oral Hygiene Index Score (OHI-S), 56.2% showed fair OHI-S; Group B – 6.2% showed good OHI-S and 46.3% showed fair OHI-S) and lower treatment needs compared to children without any systemic disease. CONCLUSION: Children with ASD showed better oral health and lower treatment needs. This suggests that introducing oral hygiene care and diet modifications in daily routine can significantly improve the Oral Health Status in children with ASD.

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15. Shi Z, Wang S, Chen M, Hu A, Long Q, Lee Y. The effect of music therapy on language communication and social skills in children with autism spectrum disorder: a systematic review and meta-analysis. Front Psychol;2024;15:1336421.

BACKGROUND: Studies have shown that music therapy can be used as a therapeutic aid for clinical disorders. To evaluate the effects of music therapy (MT) on language communication and social skills in children with autism spectrum disorder (ASD), a meta-analysis was performed on eligible studies in this field. METHODS: A systematic search was conducted in eight databases: PubMed, Embase, Web of Science, Cochrane Library databases, the China National Knowledge Infrastructure (CNKI), Wanfang Data, the Chinese Biomedical Literature (CBM) Database, and the VIP Chinese Science and Technology Periodicals Database. The standard mean difference (SMD) values were used to evaluate outcomes, and the pooled proportions and SMD with their 95% confidence intervals (CIs) were also calculated. RESULTS: Eighteen randomized controlled trial (RCT) studies were included, with a total of 1,457 children with ASD. This meta-analysis revealed that music therapy improved their language communication [SMD = -1.20; 95%CI -1.45, -0.94; χ(2) (17) = 84.17, I(2) = 80%, p < 0.001] and social skills [SMD = -1. 13; 95%CI -1.49, -0.78; χ(2) (17) = 162.53, I(2) = 90%, p < 0.001]. In addition, behavior [SMD = -1.92; 94%CI -2.56, -1.28; χ(2) (13) = 235.08, I(2) = 95%, p < 0.001], sensory perception [SMD = -1.62; 95%CI -2.17, -1.08; χ(2) (16) = 303.80, I(2) = 95%, p < 0.001], self-help [SMD = -2. 14; 95%CI -3.17, -1.10; χ(2) (6) = 173.07, I(2) = 97%, p < 0.001] were all improved. CONCLUSION: Music therapy has a positive effect on the improvement of symptoms in children with ASD. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/.

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16. Su X, Kat S, Wang H, Ma Z, Yin T, Zhao L, Peng S, Gong X, Liu Q, Han G, Li X, Guo Y, Liu J. Facial emotion recognition function and white matter microstructural alterations in drug-naive, comorbidity-free autism. Eur Arch Psychiatry Clin Neurosci;2024 (May 22)

Individuals with autism spectrum disorder have deficits in facial emotion recognition and white matter microstructural alterations. Nonetheless, most previous studies were confounded by different variables, such as psychiatric comorbidities and psychotropic medications used by ASD participants. Also, it remains unclear how exactly FER deficits are related to white matter microstructural alterations in ASD. Accordingly, we aimed to investigate the FER functions, white matter microstructure, and their relationship in drug-naive and comorbidity-free ASD individuals. 59 ASD individuals and 59 typically developed individuals were included, where 46 ASD and 50 TD individuals completed FER tasks. Covariance analysis showed scores were lower in both basic and complex FER tasks in the ASD group. Tract-Based Spatial Statistics showed FA values in widespread white matter fibers were lower in the ASD group than in the TD group, including forceps major and forceps minor of the corpus callosum, anterior thalamic radiation, corticospinal tract, cingulum, inferior frontal-occipital fasciculus, inferior longitudinal fasciculus, superior longitudinal fasciculus. Moreover, in the TD group but not the ASD group, the performance in the complex FER task was negatively correlated with the FA value in some white matter fibers, including forceps major of the corpus callosum, ATR, CT, cingulum, IFOF, ILF, SLF. Our study suggests children with ASD may experience deficits in facial emotion recognition and exhibit alterations in white matter microstructure. More importantly, our study indicates that white matter microstructural alterations may be involved in FER deficits in children with ASD.

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17. Wang Q, Zhang Y, Li L, Yang N. Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay. Mol Genet Genomic Med;2024 (May);12(5):e2420.

OBJECTIVE: This study aims to report a severe phenotype of Arboleda-Tham syndrome in a 20-month-old girl, characterized by global developmental delay, distinct facial features, intellectual disability. Arboleda-Tham syndrome is known for its wide phenotypic spectrum and is associated with truncating variants in the KAT6A gene. METHODS: To diagnose this case, a combination of clinical phenotype assessment and whole-exome sequencing technology was employed. The genetic analysis involved whole-exome sequencing, followed by confirmation of the identified variant through Sanger sequencing. RESULTS: The whole-exome sequencing revealed a novel de novo frameshift mutation c.3048del (p.Leu1017Serfs*17) in the KAT6A gene, which is classified as likely pathogenic. This mutation was not found in the ClinVar and HGMD databases and was not present in her parents. The mutation leads to protein truncation or activation of nonsense-mediated mRNA degradation. The mutation is located within exon 16, potentially leading to protein truncation or activation of nonsense-mediated mRNA degradation. Protein modeling suggested that the de novo KAT6A mutation might alter hydrogen bonding and reduce protein stability, potentially damaging the protein structure and function. CONCLUSION: This study expands the understanding of the genetic basis of Arboleda-Tham syndrome, highlighting the importance of whole-exome sequencing in diagnosing cases with varied clinical presentations. The discovery of the novel KAT6A mutation adds to the spectrum of known pathogenic variants and underscores the significance of this gene in the syndrome’s pathology.

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18. Wieckowski AT, Robins DL. Community testing practices prompt the rethinking of gold standard autism assessment. Paediatr Perinat Epidemiol;2024 (May 21)

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19. Xu L, Song L, Xiong Z, Chen J. The relationship between perceived social support and rumination among parents of children with autism: moderating effect of the degree of intervention received by children. Front Psychiatry;2024;15:1340046.

OBJECTIVE: As the number of children diagnosed with autism rises year by year, the issue of nurturing this particular group becomes increasingly salient. Parents of autistic children, as the nearest and most reliable caregivers for their children, shoulder immense psychological strain and accountability. They are compelled to confront an array of daily life challenges presented by their children, as well as endure multiple pressures such as societal scrutiny and financial burdens. Consequently, the mental health status of the parents is of utmost significance. METHODS: In this study, questionnaire survey combined with literature analysis were applied. The rumination thinking scale and the social support scale were used to investigate the relationship between social support perceived by parents of autistic children and rumination. Meanwhile, the moderating effects of intervention on children with autism were also explored. It hopes that our research would provide a basis for alleviating psychological stress and improving the mental health levels of the parents. A total of 303 parents of children with autism were collected (including 160 females and 143 males). Corresponding data analyses were conducted using SPSS 26.0. RESULTS: Parents of autistic children generally exhibited high levels of rumination, with significant gender differences. At the same time, the perceived social support by the parents significantly influenced their level of rumination. It showed that the higher the social support received by parents, the lower the level of rumination. More importantly, the extent of intervention received by the children had a regulating effect on rumination of their parents. CONCLUSION: The personalized psychological support programs should be developed based on the actual situation of parents, to better manage the challenges presented by raising a child with autism. Our findings would provide important theoretical underpinnings and practical guidance for psychological intervention efforts aimed at families of autistic children. Moreover, these findings offer novel insights for future research, with the potential to advance the field of mental health studies concerning parents of children with autism.

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20. Yan X, Li Y, Li Q, Li Q, Xu G, Lu J, Yang W. Prevalence of Autism Spectrum Disorder Among Children and Adolescents in the United States from 2021 to 2022. J Autism Dev Disord;2024 (May 22)

PURPOSE: The prevalence of autism spectrum disorder (ASD) among children and adolescents seem to be high in countries around the world, and it’s worth understanding the latest prevalence and trends of ASD in children and adolescents. The purpose of this study was to examine the latest prevalence and decade trend of ASD among individuals aged 3-17 years in the United States. METHODS: A total of 13,198 individuals aged 3-17 years were included. Annual data were examined from the National Health Interview Survey (2021-2022). Weighted prevalence for each of the selected developmental disabilities were calculated. RESULTS: This cross-sectional study estimated the weighted prevalence of autism spectrum disorder were 3.05, 3.79, and 3.42% among individuals aged 3-17 years in the US in 2021, 2022, and the 2-year overall, respectively. We also observed a decade-long upward trend even after adjusting for demographic characteristics (P for trend < .05). CONCLUSION: The results of this study showed that the prevalence of ASD among children and adolescents aged 3-17 years in the United States remained high and has increased over the past decade. The further investigation is necessary to evaluate potential modifiable risk factors and causes of ASD.

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21. Yeom JS, Kim J. Effectiveness of online responsive teaching in young children with developmental disabilities: a pilot study. Clin Exp Pediatr;2024 (May 21)

BACKGROUND: Responsive teaching (RT) interventions, which enhance developmental outcomes by improving children’s engagement behaviors, are traditionally delivered in person. However, the coronavirus disease 2019 pandemic complicated this approach. PURPOSE: This study aimed to evaluate the efficacy and acceptance of online RT in children with developmental disabilities and their parents. METHODS: This pilot study was conducted in Jinju, South Korea, and enrolled parent-child dyads referred to Gyeongsang National University Hospital for developmental concerns between April and September 2022. The children underwent a comprehensive developmental evaluation. The parents received a 5-session RT intervention via ZOOM on a mostly weekly basis. The first 2 sessions involved child development and RT lectures, while the others involved coaching on 3 of the 66 RT strategies. Problem behaviors, parent-child interactions, and parenting stress were assessed pre- versus postintervention using the Korean versions of the Child Behavior Checklist, Maternal/Child Behavior Rating Scale, and Parent Stress Index 4th Edition Short Form, respectively. Acceptability was evaluated using a self-administered questionnaire. RESULTS: Of the 30 recruited parent-child pairs, 23 (76%) completed the intervention and assessments. The children (mean age, 2.66±0.86 years) included 12 with language delays, 7 with autism spectrum disorder, and 4 with global delays. Predominantly mothers (96%) participated. Online RT significantly improved pivotal behaviors- including joint attention (P=0.04), cooperation (P=0.01), and affect (P=0.01)-and reduced overall problem behaviors (P=0.04). Parents reported less parenting stress (P=0.01), improved interactive behaviors with increased responsiveness (P<0.01), and decreased directiveness (P<0.01). High satisfaction with online RT interventions was also previously reported. CONCLUSION: These findings suggest that online RT can improve children's emotional and behavioral outcomes and maternal interaction styles and reduce parenting stress, offering accessible interventions amid challenges such as limited access and pandemics.

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22. Zhan X, Asmara H, Pfaffinger P, Turner RW. Calcium-Dependent Regulation of Neuronal Excitability Is Rescued in Fragile X Syndrome by a Tat-Conjugated N-Terminal Fragment of FMRP. J Neurosci;2024 (May 22);44(21)

Fragile X syndrome (FXS) arises from the loss of fragile X messenger ribonucleoprotein (FMRP) needed for normal neuronal excitability and circuit functions. Recent work revealed that FMRP contributes to mossy fiber long-term potentiation by adjusting the Kv4 A-type current availability through interactions with a Cav3-Kv4 ion channel complex, yet the mechanism has not yet been defined. In this study using wild-type and Fmr1 knock-out (KO) tsA-201 cells and cerebellar sections from male Fmr1 KO mice, we show that FMRP associates with all subunits of the Cav3.1-Kv4.3-KChIP3 complex and is critical to enabling calcium-dependent shifts in Kv4.3 inactivation to modulate the A-type current. Specifically, upon depolarization Cav3 calcium influx activates dual-specific phosphatase 1/6 (DUSP1/6) to deactivate ERK1/2 (ERK) and lower phosphorylation of Kv4.3, a signaling pathway that does not function in Fmr1 KO cells. In Fmr1 KO mouse tissue slices, cerebellar granule cells exhibit a hyperexcitable response to membrane depolarizations. Either incubating Fmr1 KO cells or in vivo administration of a tat-conjugated FMRP N-terminus fragment (FMRP-N-tat) rescued Cav3-Kv4 function and granule cell excitability, with a decrease in the level of DUSP6. Together these data reveal a Cav3-activated DUSP signaling pathway critical to the function of a FMRP-Cav3-Kv4 complex that is misregulated in Fmr1 KO conditions. Moreover, FMRP-N-tat restores function of this complex to rescue calcium-dependent control of neuronal excitability as a potential therapeutic approach to alleviating the symptoms of FXS.

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23. Zheng W, Wang M, Cui Y, Xu Q, Chen Y, Xian P, Yang Q, Wu S, Wang Y. Establishment of a two-hit mouse model of environmental factor induced autism spectrum disorder. Heliyon;2024 (May 15);10(9):e30617.

Autism spectrum disorder (ASD) is a group of developmental diseases characterized by social dysfunction and repetitive stereotype behaviors. Besides genetic mutations, environmental factors play important roles in the development of ASD. Valproic acid (VPA) is widely used for modeling environmental factor induced ASD in rodents. However, traditional VPA modeling is low-in-efficiency and the phenotypes often vary among different batches of experiments. To optimize this ASD-modeling method, we tested « two-hit » hypothesis by single or double exposure of VPA and poly:IC at the critical time points of embryonic and postnatal stage. The autistic-like behaviors of mice treated with two-hit schemes (embryonic VPA plus postnatal poly:IC, embryonic poly:IC plus postnatal VPA, embryonic VPA plus poly: IC, or postnatal VPA plus poly:IC) were compared with mice treated with traditional VPA protocol. The results showed that all single-hit and two-hit schemes produced core ASD phenotypes as VPA single treatment did. Only one group, namely, mice double-hit by VPA and poly:IC simultaneously at E12.5 showed severe impairment of social preference, social interaction and ultrasonic communication, as well as significant increase of grooming activity and anxiety-like behaviors, in comparation with mice treated with the traditional VPA protocol. These data demonstrated that embryonic two-hit of VPA and poly:IC is more efficient in producing ASD phenotypes in mice than the single-hit of VPA, indicating this two-hit scheme could be utilized for modeling environmental factors induced ASD.

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