1. Potential Therapy Corrects Calcium Signaling in Timothy Syndrome. Am J Med Genet A. 2024; 194(11): e63293.

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2. Ashley SA, Merritt K, Solmi F, Laguna PL, Reichenberg A, David AS. A Longitudinal Study of Head Circumference Trajectories in Autism and Autistic Traits. J Autism Dev Disord. 2024.

Increased head circumference is an established finding in autism spectrum disorder (ASD); however, it is unclear when this increase occurs, if it persists and whether it manifests across the whole ASD spectrum. Head circumference is a strong predictor of brain size and can therefore provide key insights into brain development in ASD. We used data from the Avon Longitudinal Study of Parents and Children to compare head circumference trajectories from birth to 15 years in children with an ASD diagnosis (N = 78, controls = 6,404) or elevated autistic traits as measured using the Social Communication Disorder Checklist (N = 639, controls = 6,230). Exploratory analyses were conducted in those with ASD and co-morbid cognitive learning needs (CLN). Children with an ASD diagnosis had larger head circumference from birth across childhood and adolescence compared to controls in univariable (B = 0.69, 95% confidence interval [CI]: 0.28-1.09, p = 0.001) and multivariable models (B = 0.38, 95% CI: 0.003-0.75, p = 0.048). Differences were more marked in those with co-morbid CLN. Children with elevated autistic traits had significantly smaller head circumference compared to controls. There was weak evidence of group differences when height was included as a covariate. Head circumference trajectories in ASD deviate from control children and persist until adolescence. Autistic traits were associated with smaller head circumference, suggesting distinct growth trajectories between clinical cases from those with non-clinical traits.

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3. Delgado D, LaPoint SC, Simmons GL, Heinly JM, Shepherd de WS, Kiernan B, Brookman-Frazee L, Storch EA, Maddox BB. « He Just Wants Someone to Hear Him and Listen to Him »: Barriers and Facilitators to Autistic Youth with Anxiety Receiving Quality Mental Healthcare. J Autism Dev Disord. 2024.

About half of autistic youth present with clinically interfering anxiety. Psychotherapies with exposure-focused elements are effective in academic clinical settings and controlled trials. However, there is relatively less research examining the implementation of modified interventions for autistic youth with anxiety in community mental health settings. The current study explores community members’ perceptions of barriers and facilitators that impact autistic youth with anxiety’s receipt of quality mental health services in their community. Semi-structured interviews were conducted with 15 autistic youth, 15 caregivers of autistic youth, 11 community mental health clinicians, and 8 community mental health clinic leaders. Interviews were analyzed thematically. Participants shared their experiences with facilitators and barriers to autistic youth with anxiety receiving quality mental healthcare. Themes that emerged include (1) characteristics of the autistic youth, (2) engagement of autistic youth and caregivers, (3) building rapport between providers, autistic youth, and caregivers, (4) access to mental health services, (5) intervention fit, and (6) provider characteristics. Based on participants’ perspectives and suggestions, future directions for anxiety treatment programs tailored for autistic youth include building more time into the intervention sessions to build rapport, incorporating autistic youth’s preferences into provider matches, and providing families with more psychoeducation.

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4. Jordan P, Wallace-Watkin C, Tupou J, Pillar S, Waddington H. ‘I wouldn’t want one or the other’: Understanding parents’ preferences for direct support or parent coaching for young autistic children. Autism. 2024: 13623613241287300.

Professionals often support autistic children by working with them directly (direct support) or by coaching their parents. We know a lot about what parents think about parent coaching, but we do not know as much about what they think about direct support. We also do not know whether parents prefer parent coaching or direct support. The current study involved 22 parents who each received 2 h a week of direct support for their autistic child and up to 1 h a week of parent coaching for 6 months. At the end of 6 months, all these parents indicated in a survey whether they preferred parent coaching or direct support. Eleven of these participating parents also chose to take part in an interview to understand more about these preferences. Our findings suggest that parents generally liked both supports and believed they worked well together; however, they preferred direct support over parent coaching. While parents think that both approaches are beneficial, there are strengths and challenges of each. These findings emphasise the importance of parent choice in the delivery of support. It may also be possible to adapt both approaches to address some of the identified challenges and improve the whole family’s experience.

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5. Kurahashi H, Kunisawa K, Tanaka KF, Kubota H, Hasegawa M, Miyachi M, Moriya Y, Hasegawa Y, Nagai T, Saito K, Nabeshima T, Mouri A. Autism spectrum disorder-like behaviors induced by hyper-glutamatergic NMDA receptor signaling through hypo-serotonergic 5-HT(1A) receptor signaling in the prefrontal cortex in mice exposed to prenatal valproic acid. Neuropsychopharmacology. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by repetitive behaviors, social deficits, and cognitive impairments. Maternal use of valproic acid (VPA) during pregnancy is associated with an increased risk of ASD in offspring. The prevailing pathophysiological hypothesis for ASD involves excitation/inhibition (E/I) imbalances and serotonergic dysfunction. Here, we investigated the association between glutamatergic-serotonergic neuronal interactions and ASD-like behaviors in mice exposed to prenatal VPA. Prenatal VPA exposure induced excessive repetitive self-grooming behavior and impaired social behavior and object recognition memory in young adult period. Prenatal VPA mice showed hyper-glutamatergic function (increase in basal extracellular glutamate levels and CaMKII phosphorylation) and hypo-serotonergic function (decrease in 5-hydroxyindoleacetic acid and stimulation-induced serotonin [5-HT] release, but an increase in 5-HT transporter expression) in the prefrontal cortex. Treatment with a low-affinity NMDA receptor antagonist (memantine), a selective 5-HT reuptake inhibitor (fluoxetine), and a 5-HT(1A) receptor agonist (tandospirone) attenuated both the increase in CaMKII phosphorylation and ASD-like behavior of prenatal VPA mice. Opto-genetic activation of the serotonergic neuronal system attenuated impairments in social behavior and object recognition memory in prenatal VPA mice. WAY-100635-a 5-HT(1A) receptor antagonist-antagonized the effect of fluoxetine on impaired social behavior and object recognition memory. These results suggest that E/I imbalance and ASD-like behavior are associated with hypo-serotonergic receptor signaling through 5-HT(1A) receptors in prenatal VPA mice.

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6. Lin X, Liu H, Su S, Liu L, Tang Y, Chen Z, Zhang Y, Liu Z. [Thumbtack needle at front-mu points for abnormal behavior in children with autism spectrum disorders]. Zhongguo Zhen Jiu. 2024; 44(10): 1149-54.

OBJECTIVE: To compare the clinical effect of thumbtack needle at front-mu points combined with conventional rehabilitation training and simple conventional rehabilitation training in the treatment of autism spectrum disorders (ASD). METHODS: A total of 40 children with ASD were randomly divided into a combination group (20 cases, 3 cases dropped out) and a conventional rehabilitation group (20 cases, 3 cases dropped out). Conventional rehabilitation training i.e. language-cognition training and comprehensive education training was adopted in the conventional rehabilitation group, once a day, 5 days a week. On the basis of the treatment in the conventional rehabilitation group, thumbtack needle was applied at Zhongwan (CV 12), bilateral Tianshu (ST 25) and Guanyuan (CV 4) in the combination group, the needles were retained for 3 days each time, 3-day interval was taken between each treatment, for 5 times per month. One-month treatment was as one course and a total of 3 courses were required in both groups, with 10-day break between each course. Before and after treatment, the scores of autism behavior checklist (ABC), childhood autism rating scale (CARS), TCM spleen-stomach symptoms and Achenbach child behavior checklist (CBCL) were observed, and the serum ratio of glutamate and gamma-aminobutyric acid (Glu/GABA) was measured. RESULTS: After treatment, the scores of ABC, CARS and CBCL were decreased compared with those before treatment (P<0.05, P<0.01) in both groups, the TCM spleen-stomach symptoms score was decreased compared with that before treatment (P<0.05) in the combination group; the changes in the scores of ABC, CARS, TCM spleen-stomach symptoms and CBCL, as well as the serum Glu/GABA in the combination group were lager than those in the conventional rehabilitation group (P<0.05, P<0.01). CONCLUSION: Both thumbtack needle at front-mu points combined with conventional rehabilitation training and simple conventional rehabilitation training can effectively treat ASD, the combination treatment has superior effect on improving the abnormal behavior, spleen-stomach symptoms and balance of nerve impulse and inhibition.

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7. Lubbers K, Hiralal KR, Dieleman GC, Hagenaar DA, Dierckx B, Legerstee JS, de Nijs PFA, Rietman AB, Oostenbrink R, Bindels-de Heus K, de Wit MY, Hillegers MHJ, Ten Hoopen LW, Mous SE. Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1. J Autism Dev Disord. 2024.

Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis type 1 (NF1) are monogenic disorders with high a prevalence of ASD symptomatology. This study aimed to identify ASD symptom profiles in a large group of children and adolescents (0;9-28 years) with FXS, AS, TSC, and NF1. Data on ASD symptomatology (Autism Diagnostic Observation Scale (ADOS-2) & Social Responsiveness Scale (SRS-2)) were collected from children and adolescents with FXS (n = 54), AS (n = 93), TSC (n = 112), and NF1 (n = 278). To identify groups of individuals with similar ASD profiles, we performed two latent profile analyses. We identified a four-profile model based on the ADOS-2, with a (1) ‘Non-spectrum symptom profile’, (2) ‘Social Affect symptom profile’, (3)’Restricted/Repetitive Behaviors symptom profile’, and (4)’ASD symptom profile’. We also identified a four-profile model based on the SRS, with a (1)’Non-clinical symptom profile’, (2)’Mild symptom profile’, (3)’Moderate symptom profile’, and (4)’Severe symptom profile’. Although each syndrome group exhibited varying degrees of severity, they also displayed heterogeneity in the profiles in which they were classified. We found distinct ASD symptom profiles in a population consisting of children and adolescents with FXS, AS, TSC, and NF1. Our study highlights the importance of a personalized approach to the identification and management of ASD symptoms in rare genetic syndromes. Future studies should aim to include more domains of functioning and investigate the stability of latent profiles over time.

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8. Manjunathan S, Sah RK, Khanna S, Saini AG. Pseudo Regression in an Autistic Child: A Tale of Selective Food Intake and Vitamin Deficiency. Indian J Pediatr. 2024.

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9. Mercier A, Sherrod G, Ennis R, Clay OJ, Richter CG, Stavrinos D. The Driving Profile of Autistic Drivers and Their Driving Experiences: A Systematic Review. J Autism Dev Disord. 2024.

A developmental milestone that both contributes to and facilitates a successful transition into adulthood is the ability to drive. Yet only one in three autistic adolescents successfully obtain a driver’s license by age 21 compared to over three-fourths of non-autistic adolescents. Of those who receive their license, there is inconsistency in driving attitudes, experiences and skills. The current study aimed to (1) provide a systematic review of the driving profile of autistic drivers and (2) structurally organize driving performance within a theoretical driving model – Michon’s Hierarchical Model of Driving. Following PRISMA guidelines, four databases were systematically searched to identify published articles related to autistic drivers. To be included, all studies met the following inclusion criteria: included autistic sample or people representing or working with autistic individuals, peer-reviewed, published between 2000 and 2021 and contained empirical data reporting on an aspect related to driving or motor vehicle transportation. A systematic search yielded 37 articles that met inclusion criteria. Based on the differential results derived from this review, it appears that autistic drivers are not generally at greater risk of negative driving outcomes; instead, they face unique challenges based on the skills necessary to navigate specific driving contexts. However, due to the inconsistency across results, the actual driving performance in autistic drivers remains unclear. Future research should focus on quantifying these results using an evidenced-based, theoretical framework to identify consistent strengths and challenges in driving performance across autistic drivers.

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10. Paixão I, Forno LFD, de Oliveira LP, Garcia LF. Qualitative analysis of Portuguese-language YouTube videos about autism spectrum disorders. Disabil Health J. 2024: 101719.

BACKGROUND: In the digital age, social media platforms such as YouTube have become significant channels for disseminating health information, including content related to autism spectrum disorder (ASD). The quality and reliability of this information, especially when produced by healthcare professionals, are crucial for public health education and promotion. This study aims the content of Portuguese-language videos about the treatment of ASD on YouTube, produced by healthcare providers from 2019 to 2023, assessing their quality and alignment with evidence-based practices. METHODS: A qualitative exploratory descriptive approach was used, with content analysis based on Bardin’s method. A total of 41 videos were selected using keywords related to ASD. Transcriptions were analyzed for discussions on treatment approaches, best practices, and professional recommendations according to DSM-V and ICD-10 guidelines. The quality of information was assessed using the DISCERN questionnaire. RESULTS: The analysis revealed significant variability in the quality of the information. Videos were categorized into four quality groups based on DISCERN scores: good (n = 6), moderate (n = 11), poor (n = 20), and very poor (n = 4). Good quality videos had the highest engagement metrics and overall quality scores. Common themes identified included defining and understanding ASD, ABA interventions and strategies, family and social impact, skills development, and challenges and solutions. CONCLUSION: While some videos provided accurate, evidence-based information, a substantial portion did not meet minimum quality criteria. This highlights the need for improved mechanisms to ensure the dissemination of reliable health information on social media platforms.

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11. Prillinger K, Amador de Lara G, Klöbl M, Lanzenberger R, Plener PL, Poustka L, Konicar L, Radev ST. Multisession tDCS combined with intrastimulation training improves emotion recognition in adolescents with autism spectrum disorder. Neurotherapeutics. 2024: e00460.

Previous studies indicate that transcranial direct current stimulation (tDCS) is a promising emerging treatment option for autism spectrum disorder (ASD) and its efficacy could be augmented using concurrent training. However, no intrastimulation social cognition training for ASD has been developed so far. The objective of this two-armed, double-blind, randomized, sham-controlled clinical trial is to investigate the effects of tDCS combined with a newly developed intrastimulation social cognition training on adolescents with ASD. Twenty-two male adolescents with ASD were randomly assigned to receive 10 sessions of either anodal or sham tDCS at F3/right supraorbital region together with online intrastimulation training comprising basic and complex emotion recognition tasks. Using baseline magnetic resonance imaging data, individual electric field distributions were simulated, and brain activation patterns of the training tasks were analyzed. Additionally, questionnaires were administered at baseline and following the intervention. Compared to sham tDCS, anodal tDCS significantly improved dynamic emotion recognition over the course of the sessions. This task also showed the highest activations in face processing regions. Moreover, the improvement was associated with electric field density at the medial prefrontal cortex and social awareness in exploratory analyses. Both groups showed high tolerability and acceptability of tDCS, and significant improvement in overall ASD symptoms. Taken together, multisession tDCS improved dynamic emotion recognition in adolescents with ASD using a task that activates brain regions associated with the social brain network. The variability in the electric field might diminish tDCS effects and future studies should investigate individualized approaches.

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12. Rivelis E, Valicenti-McDermott M. A Short-Term Group Telehealth Cognitive Behavioral Therapy Intervention for Youth with Autism and Anxiety: A Pilot Study. J Child Adolesc Psychopharmacol. 2024.

Background: Children with autism often present with comorbid anxiety disorders. Cognitive behavioral therapy (CBT) is an effective, evidence-based approach to treating anxiety, but information on youth with autism and anxiety is limited. Coping Cat is a 16-week CBT intervention for children with anxiety but its use in a group telehealth format in an urban, predominantly Hispanic population is limited. Objectives: (a) To examine the feasibility and preliminary effectiveness of a short-term CBT telehealth group for youth with autism and anxiety disorders in an urban, predominantly Hispanic population and (b) to examine satisfaction with the intervention. Methods: Single-arm pilot study that consisted of a 16-week telehealth CBT group therapy was based on a modified Coping Cat curriculum. Youth with autism and anxiety disorders who were on a waitlist for psychotherapy at an urban developmental center were invited to participate. Anxiety was assessed pre- and posttreatment using the Screen for Child Anxiety Related Emotional Disorders, parent and self-report. Results: Eighteen children were enrolled; 16 children completed the program. Mean age was 11 ± 2.5 years (8-15 years); 89% males, 61% Hispanic. There was a significant reduction in pre-post intervention in symptoms of overall anxiety (parent: 41.0 ± 18.5 to 31.0 ± 16.3 p ≤ 0.003, self: 25.9 ± 12.8 to 14.1 ± 7.8 p ≤ 0.001), panic disorder (parent: 8.1 ± 7.0 to 4.1 ± 4.2 p = 0.013, self: 5.1 ± 4.8 to 0.8 ± 0.9 p = 0.004), and separation anxiety disorder (parent: 7.5 ± 4.8 to 5.7 ± 4.4 p = 0.041, self: 5.8 ± 3.3 to 3.8 ± 2.4 p = 0.018) as per parent and self-reports. Self-report data also revealed a significant reduction in symptoms of social anxiety disorder (6.5 ± 3.5 to 3.9 ± 2.7 p ≤ 0.001). Parents and children reported satisfaction with the group. Conclusion: In this small, predominantly Hispanic population of youth with autism and anxiety disorder, 89% of families were compliant with a group telehealth CBT intervention. Parents and youth reported a significant reduction in anxiety symptoms and program satisfaction. A modified group CBT program via telehealth represents a feasible intervention for youth with autism and anxiety disorders.

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13. Solia D, Albarqouni L, Stehlik P, Conroy A, Thomas R. Parent concerns prior to an assessment of autism spectrum disorder: A systematic review. Autism. 2024: 13623613241287573.

When a parent has concerns about their child’s development, there is a lag between seeking and receiving health information. When waiting, parents may speculate about a possible diagnosis of autism spectrum disorder, but it is unclear what types of concerns might drive this speculation. To determine the types of concerns parents may have before their child is assessed, we conducted a systematic review that explored parent concerns before an autism spectrum disorder assessment. Our aim was to determine the types of concerns that might drive parents to seek medical help for their child’s development. Four online databases were searched and 10 articles reporting on 9 studies matched our inclusion criteria. In these cohorts, parents reported autism spectrum disorder-specific concerns (i.e. communication, social or stereotyped behaviour concerns) or non-autism spectrum disorder-specific concerns (i.e. behaviour/temperament, developmental, medical, sensory or motor concerns). Some parents also reported on their positive and negative thoughts of a potential autism spectrum disorder diagnosis and what the diagnosis would mean to them. The most reported parental concerns before an assessment were speech and language, social and behavioural. To understand the types of concerns parents have once they seek medical help, further research into how families speculated a possible autism spectrum disorder is recommended.

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14. Yang CJ, Jing JQ, Yi LX, Rong Y, Jia SJ. Psychometric Properties of the Chinese Version of the Gilliam Autism Rating Scale-Third Edition (CV-GARS-3). J Autism Dev Disord. 2024.

Gilliam Autism Rating Scale-Third Edition (GARS-3) serves as an effective screening tool for autism spectrum disorder (ASD) that is based on the latest and authoritative diagnostic criteria, however, there is a deficiency in adaptive research in China. We aimed to revise the Chinese version of GARS-3 (CV-GARS-3) and evaluate its psychometric characteristics, providing a theoretical basis for the improvement of ASD screening tools in China. This study developed CV-GARS-3 through translation and cultural adaptation of GARS-3. 362 ASD individuals, 126 typical development individuals, and 103 individuals with other disorders were recruited to analyze the psychometric characteristics of CV-GARS-3. The results showed that exploratory structural equation model demonstrated satisfactory goodness-of-fit. Within the non-verbal ASD samples, all items loaded on anticipated factors. Regarding verbal ASD samples, 3 items exhibited considerable cross-loadings and were categorized under unexpected factors. Meanwhile, acceptable criterion validity was reflected in the four subscales (r = 0.71) and the six subscales (r = 0.74). Satisfactory reliability was observed in the four subscales (Cronbach’s α = 0.96, inter-rater consistency = 0.86, test-retest consistency = 0.87) and the six subscales (Cronbach’s α = 0.94, inter-rater consistency = 0.81, test-retest consistency = 0.81). In addition, receiver operating characteristic analysis demonstrated that both the four subscales (sensitivity = 89%, specificity = 85%, accuracy = 88%) and the six subscales (sensitivity = 86%, specificity = 88%, accuracy = 86%) had outstanding screening effects. Therefore, the results suggested that the CV-GARS-3 is considered as a useful tool for the screening and auxiliary diagnosis of ASD. Notably, the expression of scale should be further improved to adapt the context of Chinese culture and achieve more precise diagnostic results.

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