1. Retraction: Blood biomarker discovery for Autism Spectrum Disorder: A proteomic analysis. PLoS One. 2024; 19(3): e0301648.

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2. Correction to: Factors Influencing Music Therapists’ Retention of Clinical Hours with Autistic Clients over Telehealth During the COVID-19 Pandemic. J Music Ther. 2024.

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3. Alkhaldi RS, Sheppard E, Ellerby Z, Burdett ERR, Mitchell P. The relationship between autistic traits, expressiveness, readability and social perceptions. PLoS One. 2024; 19(3): e0301003.

This study investigated the relationship between autistic traits, expressiveness, readability (both actual and perceived), social favourability, and likability. Sixty participants designated as ‘targets’ were video recorded in a range of social scenarios and their autistic traits were measured using the Autism Spectrum Quotient. The videos were then shown to 106 new participants designated ‘perceivers’, who were split into three groups to make judgments related to readability, expressiveness, and social favourability respectively. Mediation analyses revealed that autistic traits negatively impacted both perceived likeability and social favourability, mediated by lowered expressiveness. Autistic traits also directly impacted readability, which was not mediated by expressiveness. The findings show how the level of autistic traits of a target can influence how they are socially perceived by others.

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4. Babiec L, Wilkaniec A, Matuszewska M, Pałasz E, Cieślik M, Adamczyk A. Correction: Babiec et al. Alterations of Purinergic Receptors Levels and Their Involvement in the Glial Cell Morphology in a Pre-Clinical Model of Autism Spectrum Disorders. Brain Sci. 2023, 13, 1088. Brain Sci. 2024; 14(3).

In the original publication […].

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5. Barrett BF, Wehmeyer M, Kolb J, Ostermann T, Sappok T. Impact of the emotional development approach on psychotropic medication in adults with intellectual and developmental disabilities: a retrospective clinical analysis. J Intellect Disabil Res. 2024.

BACKGROUND: Compared with the general population, adults with an intellectual developmental disorder (IDD) are more likely to develop mental health problems and to receive high levels of psychotropic medication, particularly antipsychotics. The emotional development (ED) approach may help to better understand the nature of challenging behaviour (CB) and tailor treatment and support accordingly. The aim of this retrospective study was to investigate the impact of the ED approach on the prescription of psychotropic medication during inpatient psychiatric treatment. METHODS: The clinical data of 1758 patients were analysed within a retrospective study design over a period of 12 years. ED level was assessed (1) for the first time (INITIAL-SEO), (2) during a previous hospital stay (PAST-SEO) or (3) not at all (NO-SEO). The effects of the ED assessment and the respective intervention during the current admission on the number of psychotropics and the number and dosage of antipsychotics were analysed for the total sample, including those with CB, autism spectrum disorders and psychosis. Group differences were analysed by a chi-square test and a one-factorial analysis of variance. For analysing the impact of the application of the ED approach on psychotropic medication, a covariance model was applied. Changes between the subsamples were analysed by t-tests for dependent samples. RESULTS: The ED approach had a significant impact on reducing the overall amount of psychotropic medication and the dosage of antipsychotics in all patients with IDD. These effects were mainly attributable to those showing CB. In patients with autism spectrum disorders, the developmental approach reduced the number of antipsychotics. No effects could be observed in patients with psychosis; in this subsample, both the number and dosage of antipsychotics increased. CONCLUSIONS: The application of the ED approach in the current hospital stay reduced the number of psychotropic drugs and the number and dosage of antipsychotics, especially in those patients with IDD and CB, but also in those with autism spectrum disorders.

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6. Borghi E, Xynomilakis O, Ottaviano E, Ceccarani C, Viganò I, Tognini P, Vignoli A. Gut microbiota profile in CDKL5 deficiency disorder patients. Sci Rep. 2024; 14(1): 7376.

CDKL5 deficiency disorder (CDD) is a neurodevelopmental condition characterized by global developmental delay, early-onset seizures, intellectual disability, visual and motor impairments. Unlike Rett Syndrome (RTT), CDD lacks a clear regression period. Patients with CDD frequently encounter gastrointestinal (GI) disturbances and exhibit signs of subclinical immune dysregulation. However, the underlying causes of these conditions remain elusive. Emerging studies indicate a potential connection between neurological disorders and gut microbiota, an area completely unexplored in CDD. We conducted a pioneering study, analyzing fecal microbiota composition in individuals with CDD (n = 17) and their healthy relatives (n = 17). Notably, differences in intestinal bacterial diversity and composition were identified in CDD patients. In particular, at genus level, CDD microbial communities were characterized by an increase in the relative abundance of Clostridium_AQ, Eggerthella, Streptococcus, and Erysipelatoclostridium, and by a decrease in Eubacterium, Dorea, Odoribacter, Intestinomonas, and Gemmiger, pointing toward a dysbiotic profile. We further investigated microbiota changes based on the severity of GI issues, seizure frequency, sleep disorders, food intake type, impairment in neuro-behavioral features and ambulation capacity. Enrichment in Lachnoclostridium and Enterobacteriaceae was observed in the microbiota of patients with more severe GI symptoms, while Clostridiaceae, Peptostreptococcaceae, Coriobacteriaceae, Erysipelotrichaceae, Christensenellaceae, and Ruminococcaceae were enriched in patients experiencing daily epileptic seizures. Our findings suggest a potential connection between CDD, microbiota and symptom severity. This study marks the first exploration of the gut-microbiota-brain axis in subjects with CDD. It adds to the growing body of research emphasizing the role of the gut microbiota in neurodevelopmental disorders and opens doors to potential interventions that target intestinal microbes with the aim of improving the lives of patients with CDD.

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7. Botelho RM, Silva ALM, Borbely AU. The Autism Spectrum Disorder and Its Possible Origins in Pregnancy. Int J Environ Res Public Health. 2024; 21(3).

Autism Spectrum Disorder (ASD) belongs to the group of neurodevelopmental disorders, and has a high prevalence, affecting 1 in 100 children according to data from the World Health Organization (WHO). To be diagnosed with ASD, the child must have persistent deficits in communication and social interactions, and restricted and repetitive patterns of behavior, interests, or activities. Despite its prevalence, the etiology of ASD is still uncertain, with multifactorial characteristics, including those associated with the gestational period, where maternal exposure to biological, chemical, or physical hazards occurs, some of which have already been proposed as causes of ASD outcomes. Since pregnancy requires a balance between the maternal-fetal binomial, the breakdown of this balance caused by such environmental hazards can lead to altered fetal neurodevelopment, including ASD. With this firmly in mind, this review aims to compile the most recent data on the gestational causes that may be associated with the development of ASD to help health professionals identify risk factors and act for the prevention and management of ASD.

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8. Camilleri LJ, Maras K, Brosnan M. Supporting autistic communities through parent-led and child/young person-led digital social story interventions: an exploratory study. Front Digit Health. 2024; 6: 1355795.

INTRODUCTION: Social Stories (SS) is a socially-valid intervention for autistic children and young people (CYP) which is used widely by professionals and parents. Research suggests that whilst parents are in an ideal position to deliver interventions for their autistic CYP, a lack of procedural integrity can result in a great deal of variability in parent-mediated intervention outcomes. METHODS: This exploratory study investigated the extent to which SS can be effectively developed and delivered, through digital mediation, by parents with little to no researcher input (n = 17, sample 1) and the factors that impact effectiveness. Furthermore, the study also investigated the extent to which digitally-mediated SS can support autistic CYP to develop and deliver their own stories, thereby utilising the intervention as a means for self-support and self-management (n = 5, sample 2). RESULTS: The outcomes of the study indicate that digital mediation can effectively support parent-led SS intervention. Findings also indicate that receptive/expressive language skills of autistic CYP, their level of systemizing, as well as the practice of consulting with the autistic CYP whilst identifying goals and developing stories, are individual and procedural characteristics which positively influence the effectiveness of the parent-led intervention. The study also found that digitally-mediated SS can be utilised as a self-support tool by autistic CYP themselves. DISCUSSION: The results inform the developing literature on digital interventions and support tools that aim to engage with, and involve further, the autistic community in the setting and authoring of interventions and research.

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9. Cano-Villagrasa A, Porcar-Gozalbo N, López-Chicheri I, López-Zamora M. Executive Functioning and Language in a Pediatric Population with Autism Spectrum Disorders and Epilepsy: A Comparative Study. Children (Basel). 2024; 11(3).

In recent years, there has been an increase in the prevalence of comorbidity between ASD and epilepsy in the pediatric population. Children with ASD and epilepsy often exhibit greater impairments in executive functions such as cognitive flexibility, planning, inhibition, and emotional control, as well as in language dimensions such as phonology, semantics, morphosyntax, and pragmatics. These impairments can significantly impact their maturation and development. The aim of this study was to assess and compare the executive functioning and language skills of 150 participants, divided into three groups: one with ASD only, another with epilepsy only, and the third group with both ASD and epilepsy. The study utilized the Behavior Rating Inventory of Executive Function (BRIEF-2) and Neuropsychological Evaluation of Executive Functions in Children (ENFEN) to assess executive functions, and Clinical Evaluation of Language Fundamentals 5 (CELF-5) to evaluate language skills. The results indicated that participants with this comorbidity had lower scores in both executive functioning and language skills compared to children with only ASD or epilepsy. The presence of epilepsy significantly limits the executive and linguistic performance of children with ASD, negatively affecting language acquisition, functionality, and the ability to carry out basic life activities independently.

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10. Carlson SR, Munandar V, Thompson JR. Outcomes for Adults With Intellectual and Developmental Disabilities Receiving Long-Term Services and Supports: A Systematic Review of the Literature. Intellect Dev Disabil. 2024; 62(2): 137-50.

The impact of long-term services and supports on the quality of life of adults with intellectual and developmental disabilities (IDD) is not well understood given the highly complex nature of researching this topic. To support future research addressing this topic, we conducted a systematic literature review of studies addressing outcomes of adults with IDD receiving long-term services and supports. Results of this review describe current outcomes for adults with IDD who receive long-term services and supports and can be used to inform program evaluation, policy development, and future research.

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11. Carpita B, Nardi B, Tognini V, Poli F, Amatori G, Cremone IM, Pini S, Dell’Osso L. Autistic Traits and Somatic Symptom Disorders: What Is the Link?. Brain Sci. 2024; 14(3).

Alterations in sensory processing, a key component of autism spectrum disorder (ASD), have recently attracted increasing attention as they result in peculiar responses to sensory stimuli, possibly representing a risk factor for the development of somatic symptom disorder (SSD). Contextually, other features also associated with ASD, such as alexithymia, camouflaging and altered verbal, and non-verbal communication, have been suggested to represent risk factors for the occurrence and worsening of somatic symptomatology. The aim of this work was to review the available literature about the association between SSD and the autism spectrum. The results highlighted not only a higher prevalence of autistic features in patients suffering from SSD and a higher prevalence of reported somatic symptomatology in subjects with ASD but also how ASD subjects with co-occurrent somatic symptoms exhibit more severe autism-linked symptomatology. From the paper reviewed also emerged many shared features between the two conditions, such as alexithymia, altered sensitivity to sensory stimuli, cognitive inflexibility, intolerance of uncertainty, and an increased risk of experiencing stressful life events, which may provide an explanation for the correlation reported. Even though studies on the topic are still scant, the evidence reported suggests the importance of further assessing the correlation between the two disorders.

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12. Casula L, Logrieco MG, D’Urso G, Guerrera S, Petrolo E, Nicolì I, Celentano V, Toto GA, Vicari S, Fasolo M, Valeri G. What Factors Predict Adaptive Functioning in Preschool Children with Autism Spectrum Disorder? A Longitudinal Study. J Clin Med. 2024; 13(6).

Adaptive functioning constitutes a fundamental aspect of the phenotype associated with autism spectrum disorder (ASD) in preschool-aged children, exerting a significant influence on both the child and the family’s overall quality of life. The aim of this study was to investigate the predictors of the adaptive functioning domains in preschool-age children with ASD at two time points, providing a snapshot of this fundamental developmental step. Methods: Ninety-five children with ASD (M = 3.89, SD = 1.13) were included in the study and longitudinal data (the mean length of the longitudinal data collection was 1 year) on ASD features such as social communication and social interaction, repetitive and restricted behavior, cognitive level, and adaptive functioning were collected. We considered autistic features, cognitive level, and sociodemographic factors as possible predictors of the different adaptive functioning domains one year later. Results: Data obtained showed a worsening of the ASD features and adaptive functioning after one year. Furthermore, the severity of repetitive and restricted behavior predicted adaptive functioning, especially in the social and practical domains of the child, one year later. This prediction was observed alongside the child’s cognitive level. Conclusions: The study identifies some potential predictive factors of specific adaptive functioning domains in preschoolers with ASD. Considering how critical adaptive functioning is for the well-being of both the child and their family, it becomes imperative to design early-stage interventions focused on nurturing adaptive skills in children with ASD.

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13. Chouinard B, Pesquita A, Enns JT, Chapman CS. Processing of visual social-communication cues during a social-perception of action task in autistic and non-autistic observers. Neuropsychologia. 2024: 108880.

Social perception and communication differ between those with and without autism, even when verbal fluency and intellectual ability are equated. Previous work found that observers responded more quickly to an actor’s points if the actor had chosen by themselves where to point instead of being directed where to point. Notably, this ‘choice-advantage’ effect decreased across non-autistic participants as the number of autistic-like traits and tendencies increased (Pesquita et al., 2016). Here, we build on that work using the same task to study individuals over a broader range of the spectrum, from autistic to non-autistic, measuring both response initiation and mouse movement times, and considering the response to each actor separately. Autistic and non-autistic observers viewed videos of three different actors pointing to one of two locations, without knowing that the actors were sometimes freely choosing to point to one target and other times being directed where to point. All observers exhibited a choice-advantage overall, meaning they responded more rapidly when actors were freely choosing versus when they were directed, indicating a sensitivity to the actors’ postural cues and movements. Our fine-grained analyses found a more robust choice-advantage to some actors than others, with autistic observers showing a choice-advantage only in response to one of the actors, suggesting that both actor and observer characteristics influence the overall effect. We briefly explore existing actor characteristics that may have contributed to this effect, finding that both duration of exposure to pre-movement cues and kinematic cues of the actors likely influence the choice advantage to different degrees across the groups. Altogether, the evidence suggested that both autistic and non-autistic individuals could detect the choice-advantage signal, but that for autistic observers the choice-advantage was actor specific. Notably, we found that the influence of the signal, when present, was detected early for all actors by the non-autistic observers, but detected later and only for one actor by the autistic observers. Altogether, we have more accurately characterized the ability of social-perception in autistic individuals as intact, but highlighted that detection of signal is likely delayed/distributed compared to non-autistic observers and that it is important to investigate actor characteristics that may influence detection and use of their social-perception signals.

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14. Diz S, Jacinto M, Costa AM, Monteiro D, Matos R, Antunes R. Physical Activity, Quality of Live and Well-Being in Individuals with Intellectual and Developmental Disability. Healthcare (Basel). 2024; 12(6).

The practice of physical activity, exercise and sport has many benefits for the general population, but studies on the population with intellectual and developmental disabilities (IDD) are scarce and inconclusive. The aim of this systematic review is to analyze the state of the art on the role of physical activity, exercise and sport in the quality of life and well-being of people with IDD, seeking to understand the current panorama in this area and provide answers to these questions. The research was carried out between July and October 2023 using three databases: PubMed, Web of Science and Scopus. Fifteen articles met the eligibility criteria for this study, and these were methodologically assessed using the Downs and Black scale (1998). Higher values were identified in the total quality of life score and some domains of this variable (e.g., personal development, physical well-being and emotional well-being), in satisfaction with life and in the perception of well-being in individuals with IDD who have enjoyed or are involved in physical activity, physical exercise and/or sports programs. Thus, according to the studies included in this systematic review, we can conclude that the practice of physical activity, physical exercise and sport seems to contribute to improving the quality of life and well-being of people with IDD. Despite the growing research interest in this area, there is still a notable lack of studies exploring the impact of these programs, especially sports-based programs, on quality of life and well-being variables in the population under study.

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15. Esposito D, Bernardi K, Belli A, Gasparri V, Romano S, Terenzi L, Zanatta ME, Iannotti S, Ferrara M. The Hidden Impact of ADHD Symptoms in Preschool Children with Autism: Is There a Link to Somatic and Sleep Disorders?. Behav Sci (Basel). 2024; 14(3).

Neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), do often present in comorbidity among them and with other medical conditions, including sleep and gastrointestinal (GI) disorders and somatic complaints. An anonymous online survey based on standardized questionnaires (SDSC, KL-ASD, APSI, ROME V CRITERIA, CPRS, CBCL) was completed by the parents of 46 preschoolers diagnosed with ASD. A high prevalence (47%) of ADHD symptoms in this population was found, surpassing previous estimates. Sleep disturbances, especially difficulties in initiating and maintaining sleep and sleep-wake transition, are more pronounced in ASD patients with comorbid ADHD. Additionally, in patients over 4 years old, there is a high prevalence of functional GI symptoms (Rome V criteria: 38%). Parental stress is significantly associated with ADHD symptoms, sleep disorders, and GI symptoms. Comprehensive assessments considering both core symptoms of neurodevelopmental disorders and associated comorbidities are crucial for more effective treatment strategies and improved wellbeing in affected individuals and their families.

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16. Ferreiro-Pérez M, Abuín-Porras V, Martín-Casas P, Ortiz-Gutiérrez RM. Postural Control and Sensory Processing in Preschool Children with Autistic Spectrum Disorder: A Cross-Sectional Study. Children (Basel). 2024; 11(3).

The role of sensory processing in maintaining postural control (PC) among preschool-aged children with autism spectrum disorder (ASD) remains underexplored despite its potential implications for their developmental trajectory. This study aimed to assess the utilization of sensory information for PC maintenance while standing in preschool-aged children with ASD and to examine its correlation with PC during functional tasks using a standardized tool. The cross-sectional study recruited 27 children, aged between 3 and 6 years, diagnosed with ASD. Participation indexes for somatosensory, vestibular, visual, and visual preference were computed during a modified Clinical Test of Sensory Integration and Balance (m-CTSIB), based on sagittal plane body sway analyzed via video with Kinovea(®) software (version 0.9.4). Additionally, scores from the Pediatric Balance Scale (PBS) were analyzed. Statistical analysis of data derived from lateral malleolus and mastoid process sway using the Friedman test revealed significant differences in the utilization of various sensory systems involved in PC during the m-CTSIB (p < 0.001). There was a pronounced reliance on somatosensory information, coupled with increased instability in the absence or with the variability of visual information. The mean PBS score was 50.44 ± 2.74, exhibiting a significant negative correlation with the vestibular index (p < 0.05). Preschool-aged children with ASD demonstrated challenges in maintaining PC while standing under different sensory conditions, indicating a heightened dependence on somatosensory cues, particularly in the absence or with the variability of visual stimuli. While these challenges were not reflected in PBS scores, they were negatively correlated with the vestibular index.

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17. Grandi M, Galber C, Gatto C, Nobile V, Pucci C, Schaldemose Nielsen I, Boldrin F, Neri G, Chiurazzi P, Solaini G, Baracca A, Giorgio V, Tabolacci E. Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders. Int J Mol Sci. 2024; 25(6).

Mitochondria are involved in multiple aspects of neurodevelopmental processes and play a major role in the pathogenetic mechanisms leading to neuro-degenerative diseases. Fragile-X-related disorders (FXDs) are genetic conditions that occur due to the dynamic expansion of CGG repeats of the FMR1 gene encoding for the RNA-binding protein FMRP, particularly expressed in the brain. This gene expansion can lead to premutation (PM, 56-200 CGGs), full mutation (FM, >200 CGGs), or unmethylated FM (UFM), resulting in neurodegeneration, neurodevelopmental disorders, or no apparent intellectual disability, respectively. To investigate the mitochondrial mechanisms that are involved in the FXD patients, we analyzed mitochondrial morphology and bioenergetics in fibroblasts derived from patients. Donut-shaped mitochondrial morphology and excessive synthesis of critical mitochondrial proteins were detected in FM, PM, and UFM cells. Analysis of mitochondrial oxidative phosphorylation in situ reveals lower respiration in PM fibroblasts. Importantly, mitochondrial permeability transition-dependent apoptosis is sensitized to reactive oxygen species in FM, PM, and UFM models. This study elucidated the mitochondrial mechanisms that are involved in the FXD phenotypes, and indicated altered mitochondrial function and morphology. Importantly, a sensitization to permeability transition and apoptosis was revealed in FXD cells. Overall, our data suggest that mitochondria are novel drug targets to relieve the FXD symptoms.

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18. Gu Q, Kanungo J. Neurogenic Effects of Inorganic Arsenic and Cdk5 Knockdown in Zebrafish Embryos: A Perspective on Modeling Autism. Int J Mol Sci. 2024; 25(6).

The exact mechanisms of the development of autism, a multifactorial neurological disorder, are not clear. The pathophysiology of autism is complex, and investigations at the cellular and molecular levels are ongoing to provide clarity. Mutations in specific genes have been identified as risk factors for autism. The role of heavy metals in the pathogenesis of autism is subject to many studies and remains debatable. Although no exact neuronal phenotypes have been identified linked to autistic symptoms, overproduction and reduction of specific neurons have been implicated. A growing literature on generating genetic and non-genetic models of autism aims to help with understanding mechanistic studies that can explain the complexity of the disorder. Both genetic and non-genetic methods of zebrafish have been used to model autism. For several human autism risk genes, validated zebrafish mutant models have been generated. There is growing evidence indicating a potential link between autism and inorganic arsenic exposure. We have previously shown that inorganic arsenic induces supernumerary spinal motor neurons via Sonic hedgehog (Shh) signaling pathway, and Cdk5 knockdown causes an overproduction of cranial and spinal motor neurons in zebrafish. Here, in this review, we provide a perspective on what these findings of neurogenic phenotypes mean in terms of dysregulated pathways of motor neuron development and their applicability to understanding cellular and molecular underpinnings of autism.

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19. Gurevitz M, Leisman G. Correction: Gurevitz, M.; Leisman, G. Factors in Infancy That May Predict Autism Spectrum Disorder. Brain Sci. 2023, 13, 1374. Brain Sci. 2024; 14(3).

There was an error in the original publication […].

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20. Han GT, Heavner HS, Rains TR, Hoang AH, Stone AL. Chronic Pain in Autistic Youth: Clinical Prevalence and Reflections on Tailoring Evidence-Based Interventions from an Interdisciplinary Treatment Team. Children (Basel). 2024; 11(3).

Though there is growing awareness of the overrepresentation of autistic patients in chronic pain clinics, potential adaptations for the assessment and treatment of chronic pain in this population have not yet been established. To address this gap, a retrospective review of electronic medical records and discussions by an interdisciplinary pain treatment team were summarized to inform potential biopsychosocial factors affecting the presentation, assessment, and treatment of chronic pain in autistic youth. Our sample included a record review of 95 patients receiving treatment in an interdisciplinary outpatient pediatric pain clinic. Results indicated that 9% (n = 9) of the patients presented to the clinic with a prior diagnosis of autism, but an additional 21% (n = 20) were identified as likely meeting criteria for autism based on the clinical assessment of the developmental history, behaviors observed during the clinical encounter(s), and expert clinical judgment, suggesting that the prevalence rate of autism may be closer to 30% in our outpatient pediatric pain clinic. Over half (52%) of the autistic youth presented to the clinic with widespread pain, 60% identified as female, and 6% identified as gender expansive or transgender. Qualitative insights revealed that most of the autistic patients had co-occurring sensory-processing challenges and difficulty in describing their pain, emotions, and somatic experiences and exhibited cognitive inflexibility and social challenges. We summarize our team’s clinical reflections on how autism-relevant biopsychosocial vulnerability factors may contribute to the experience of pain in autistic youth and propose treatment targets and adaptations for the assessment and treatment of pain in this population. Finally, we recommend the need for interventions focused on sensorimotor integration, especially for autistic youth, and describe how pain clinics may be particularly helpful for identifying and supporting autistic females, for whom the potential role of autism in pain experiences had not been considered until receiving treatment in our clinic.

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21. Harel Y, Romano A, Lotan M. Remote Physiotherapy for Children with ASD during the COVID-19 Pandemic: A Thematic Analysis of Physical Therapists’ Perspectives. J Clin Med. 2024; 13(6).

Background: Physical therapy plays a crucial role in addressing the physical challenges faced by individuals with autism spectrum disorder (ASD). Amidst the COVID-19 pandemic lockdown, physical therapists (PTs) working in special education centers for ASD children were tasked with deploying remote telehealth interventions (RTIs), an uncommon approach in physical therapy until then. The present article aims to describe and discuss the PTs’ perspective of using RTI with children with ASD during the national Israeli COVID-19 lockdown. Methods: Reports from 13 experienced PTs who treated and supported 244 children with ASD using RTIs over six weeks were analyzed. The study employed quantitative research methods, including freely written reports and discussions addressing the question « what were your experiences as a PT treating ASD children remotely during the nationwide COVID-19 lockdown? » Results: the reports were categorized into four main themes: (a) the implications of RTIs on the children; (b) the implications of RTIs on the PTs; (c) modifications for applying RTI; and (d) PTs’ family rapport as a necessary basis for RTI. Noteworthy findings include the unaffected implementation of RTIs by ASD severity level and the dependence of RTI’s success on parental availability and the ability of parents to tailor activities for their child. Conclusions: The findings of the current research suggest that PT services through RTIs are well-suited for individuals with ASD and their families.

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22. Hu Q, Feng L, Yang MH, Yang F. Letter to the editor on « A novel frameshift mutation of FOXG1-induced congenital variant of Rett syndrome: A case report ». Asian J Surg. 2024.

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23. Jang HJ, Lee NK, Paik HD. A Narrative Review on the Advance of Probiotics to Metabiotics. J Microbiol Biotechnol. 2024; 34(3): 487-94.

Recently, the term metabiotics has emerged as a new concept of probiotics. This concept entails combining existing probiotic components with metabolic by-products improve specific physiological functionalities. Representative ingredients of these metabiotics include short-chain fatty acids (SCFAs), bacteriocins, polysaccharides, and peptides. The new concept is highly regarded as it complements the side effects of existing probiotics and is safe and easy to administer. Known health functions of metabiotics are mainly immune regulation, anti-inflammatory, anticancer, and brain-neurological health. Research has been actively conducted on the health benefits related to the composition of intestinal microorganisms. Among them, the focus has been on brain neurological health, which requires extensive research. This study showed that neurological disorders, such as depression, anxiety, autism spectrum disorder, Alzheimer’s disease, and Parkinson’s disease, can be treated and prevented according to the gut-brain axis theory by changing the intestinal microflora. In addition, various studies are being conducted on the immunomodulatory and anticancer effects of substances related to metabiotics of the microbiome. In particular, its efficacy is expected to be confirmed through human studies on various cancers. Therefore, developing various health functional effects of the next-generation probiotics such as metabiotics to prevent or treatment of various diseases is anticipated.

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24. Jiang J, Wang D, Jiang Y, Yang X, Sun R, Chang J, Zhu W, Yao P, Song K, Chang S, Wang H, Zhou L, Zhang XS, Li H, Li N. The gut metabolite indole-3-propionic acid activates ERK1 to restore social function and hippocampal inhibitory synaptic transmission in a 16p11.2 microdeletion mouse model. Microbiome. 2024; 12(1): 66.

BACKGROUND: Microdeletion of the human chromosomal region 16p11.2 (16p11.2 +/- ) is a prevalent genetic factor associated with autism spectrum disorder (ASD) and other neurodevelopmental disorders. However its pathogenic mechanism remains unclear, and effective treatments for 16p11.2 +/- syndrome are lacking. Emerging evidence suggests that the gut microbiota and its metabolites are inextricably linked to host behavior through the gut-brain axis and are therefore implicated in ASD development. Despite this, the functional roles of microbial metabolites in the context of 16p11.2 +/- are yet to be elucidated. This study aims to investigate the therapeutic potential of indole-3-propionic acid (IPA), a gut microbiota metabolite, in addressing behavioral and neural deficits associated with 16p11.2 +/- , as well as the underlying molecular mechanisms. RESULTS: Mice with the 16p11.2 +/- showed dysbiosis of the gut microbiota and a significant decrease in IPA levels in feces and blood circulation. Further, these mice exhibited significant social and cognitive memory impairments, along with hyperactivation of hippocampal dentate gyrus neurons and reduced inhibitory synaptic transmission in this region. However, oral administration of IPA effectively mitigated the histological and electrophysiological alterations, thereby ameliorating the social and cognitive deficits of the mice. Remarkably, IPA treatment significantly increased the phosphorylation level of ERK1, a protein encoded by the Mapk3 gene in the 16p11.2 region, without affecting the transcription and translation of the Mapk3 gene. CONCLUSIONS: Our study reveals that 16p11.2 +/- leads to a decline in gut metabolite IPA levels; however, IPA supplementation notably reverses the behavioral and neural phenotypes of 16p11.2 +/- mice. These findings provide new insights into the critical role of gut microbial metabolites in ASD pathogenesis and present a promising treatment strategy for social and cognitive memory deficit disorders, such as 16p11.2 microdeletion syndrome. Video Abstract.

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25. Kucińska A, Hawuła W, Rutkowska L, Wysocka U, Kępczyński Ł, Piotrowicz M, Chilarska T, Wieczorek-Cichecka N, Połatyńska K, Przysło Ł, Gach A. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. Brain Sci. 2024; 14(3).

Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of ASD is heterogeneous, with many genes involved, a crucial role is believed to be played by copy number variants (CNVs). The present study examines the role of copy number variation in the development of isolated ASD, or ASD with additional clinical features, among a group of 180 patients ranging in age from two years and four months to 17 years and nine months. Samples were taken and subjected to array-based comparative genomic hybridization (aCGH), the gold standard in detecting gains or losses in the genome, using a 4 × 180 CytoSure Autism Research Array, with a resolution of around 75 kb. The results indicated the presence of nine pathogenic and six likely pathogenic imbalances, and 20 variants of uncertain significance (VUSs) among the group. Relevant variants were more prevalent in patients with ASD and additional clinical features. Twelve of the detected variants, four of which were probably pathogenic, would not have been identified using the routine 8 × 60 k microarray. These results confirm the value of microarrays in ASD diagnostics and highlight the need for dedicated tools.

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26. Kuo PL. Response to letter to the editor « Preterm birth and weight-for-gestational age for risks of autism spectrum disorder and intellectual disability: A nationwide population-based cohort study ». J Formos Med Assoc. 2024.

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27. Li Z, Wu X, Li H, Bi C, Zhang C, Sun Y, Yan Z. Complex interplay of neurodevelopmental disorders (NDDs), fractures, and osteoporosis: a mendelian randomization study. BMC Psychiatry. 2024; 24(1): 232.

BACKGROUND: Neurodevelopmental disorders (NDDs), such as Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), and Tourette Syndrome (TS), have been extensively studied for their multifaceted impacts on social and emotional well-being. Recently, there has been growing interest in their potential relationship with fracture risks in adulthood. This study aims to explore the associations between these disorders and fracture rates, in order to facilitate better prevention and treatment. METHODS: Employing a novel approach, this study utilized Mendelian randomization (MR) analysis to investigate the complex interplay between ADHD, ASD, TS, and fractures. The MR framework, leveraging extensive genomic datasets, facilitated a systematic examination of potential causal relationships and genetic predispositions. RESULTS: The findings unveil intriguing bidirectional causal links between ADHD, ASD, and specific types of fractures. Notably, ADHD is identified as a risk factor for fractures, with pronounced associations in various anatomical regions, including the skull, trunk, and lower limbs. Conversely, individuals with specific fractures, notably those affecting the femur and lumbar spine, exhibit an increased genetic predisposition to ADHD and ASD. In this research, no correlation was found between TS and fractures, or osteoporosis.These results provide a genetic perspective on the complex relationships between NDDs and fractures, emphasizing the importance of early diagnosis, intervention, and a holistic approach to healthcare. CONCLUSION: This research sheds new light on the intricate connections between NDDs and fractures, offering valuable insights into potential risk factors and causal links. The bidirectional causal relationships between ADHD, ASD, and specific fractures highlight the need for comprehensive clinical approaches that consider both NDDs and physical well-being.

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28. Little LM, Schwefel LL. Flourishing and Functional Difficulties among Autistic Youth: A Confirmatory Factor Analysis. Children (Basel). 2024; 11(3).

The International Classification of Functioning, Disability, and Health for Children and Youth outlines body structures and functions and activities and participation to fully describe elements that support or detract from participation. While flourishing has gained attention in recent literature, research also points to the role of functional difficulties among autistic youth in influencing participation. Clearly, function is a multi-dimensional and complex construct and likely consists of both indicators of flourishing and functional difficulties. We used data from the National Survey of Children’s Health (NSCH) from 2016 to 2020 to identify aspects of flourishing functional difficulties to achieve the following aims: (1) Investigate the factor structure of flourishing and functional difficulties among autistic youth ages 10-17 years; and (2) examine the extent to which child variables (i.e., sex, age, race, ethnicity, autism severity, poverty) are associated with flourishing and functional difficulties. Autistic children (n = 2960) between the ages of 10 and 17 years were included. We used confirmatory factor analysis followed by a multivariate general linear model (GLM) to examine the association between child variables and factors. Results indicated a six-factor structure (medical conditions, instrumental activities of daily living, activities of daily living, social competence, behavioral control, and school motivation) with good model fit (root mean square error of approximation = 0.08 [p = 0.926], comparative fit index = 0.94, Tucker-Lewis index = 0.91). Multivariate GLM showed that child factors were differentially and significantly associated with factors of functional difficulties and flourishing. Current findings suggest that 16 items measured by the NSCH result in a six-factor structure of flourishing and functional difficulties among autistic youth. A comprehensive approach to capture function among autistic youth must assess aspects of flourishing and difficulties.

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29. Longhurst P, Todd J, Aspell JE, Swami V. Psychometric evaluation of a revised version of the body appreciation scale-2 for autistic adults (BAS-2A). Body Image. 2024; 49: 101706.

Emerging evidence points to unique conceptualisations of positive body image in autistic individuals. However, there are no existing measures of positive body image that have been developed or validated for use with autistic adults. To rectify this, we developed a revised version of the BAS-2 – the BAS-2A – and examined its factorial validity and psychometric properties in a sample of autistic adults from the United Kingdom. Based on the results of exploratory factor analysis and scale purification, we extracted a 12-item, unidimensional model of BAS-2A scores in a first split-subsample (n = 273). Confirmatory factor analysis supported the unidimensional model of BAS-2A scores in a second split-subsample (n = 277). BAS-2A scores presented adequate composite reliability, measurement invariance across gender identity, and patterns of construct validity. For both women and men, BAS-2A scores correlated positively with self-esteem, well-being, quality of life, and adaptive coping, and inversely with dietary restraint, weight/shape overvaluation, body dissatisfaction, and depression. Finally, BAS-2A scores demonstrated incremental validity, predicting self-esteem over-and-above body dissatisfaction. However, temporal stability of the BAS-2A over three weeks was not supported. These results support the BAS-2A as a psychometrically robust measure of body appreciation for use in autistic adults from the United Kingdom.

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30. Mammarella V, Monducci E, Maffucci A, Terenzi L, Ferrara M, Sogos C. Assessment of Psychotic Risk in a Sample of Children and Adolescents with Autism Spectrum Disorder Compared to a Group of « Clinical High Risk » Patients: A Preliminary Study. Children (Basel). 2024; 11(3).

1. BACKGROUND: Autism spectrum disorder and psychotic risk show several overlapping symptoms, so differential diagnosis is often difficult. In addition, there is a high rate of comorbidity between the two conditions, which further complicates the work of clinicians. We evaluated the presence of subthreshold psychotic symptoms and/or defined psychotic risk syndromes in autistic children and adolescents; we compared the prevalence, type, and severity of psychotic risk symptoms with those of a group of non-autistic patients at clinical high risk for psychosis (CHR-P). 2. METHODS: In total, 23 autistic patients and 14 CHR-P patients without autism (aged 8-17) were enrolled in the study. The main assessment was made through clinical interviews for autism (Autism Diagnostic Observation Schedule, Second Edition-ADOS-2, Autism Diagnostic Interview, Revised-ADI-R) and psychotic risk (Schizophrenia Proneness Instrument, Child and Youth version-SPI-CY, Structured Interview for Psychosis Risk Syndromes-SIPS). 3. RESULTS: No above-threshold psychotic risk symptoms were detected in our autistic patients, but subthreshold psychotic symptoms were identified in all areas. Specific items from all four dimensions of SIPS appear to be more specific for psychotic risk than autism without comorbidity. 4. CONCLUSIONS: An a priori screening of psychotic risk in neurodiverse populations is fundamental to prevent more severe conditions. Research should clarify the effective specificity of the available tools to modify them to improve their detection capability.

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31. Mamtani H, Singhai K, Ramachandraiah S, Jayarajan D, Muliyala KP. Barriers to Vocational Rehabilitation in Adult Autism Spectrum Disorder: A Case Series from a Tertiary Mental Health Care Institute in India. Indian J Psychol Med. 2023; 45(6): 642-5.

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32. Mattioni L, Barbieri A, Grigoli A, Balasco L, Bozzi Y, Provenzano G. Alterations of perineuronal net expression and abnormal social behavior and whisker-dependent texture discrimination in mice lacking the autism candidate gene Engrailed 2. Neuroscience. 2024.

GABAergic interneurons and perineuronal nets (PNNs) are important regulators of plasticity throughout life and their dysfunction has been implicated in the pathogenesis of several neuropsychiatric conditions, including autism spectrum disorders (ASD). PNNs are condensed portions of the extracellular matrix (ECM) that are crucial for neural development and proper formation of synaptic connections. We previously showed a reduced expression of GABAergic interneuron markers in the hippocampus and somatosensory cortex of adult mice lacking the Engrailed2 gene (En2-/- mice), a mouse model of ASD. Since alterations in PNNs have been proposed as a possible pathogenic mechanism in ASD, we hypothesized that the PNN dysfunction may contribute to the neural and behavioral abnormalities of En2-/- mice. Here, we show an increase in the PNN fluorescence intensity, evaluated by Wisteria floribunda agglutinin, in brain regions involved in social behavior and somatosensory processing. In addition, we found that En2-/- mice exhibit altered texture discrimination through whiskers and display a marked decrease in the preference for social novelty. Our results raise the possibility that altered expression of PNNs, together with defects of GABAergic interneurons, might contribute to the pathogenesis of social and sensory behavioral abnormalities.

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33. Pan T, Wongpakaran T, Wongpakaran N, He B, Wedding D. Social Inhibition and Depressive Symptoms among Couples with Children with Autism Spectrum Disorder: The Mediating Role of Perceived Family Support. Medicina (Kaunas). 2024; 60(3).

Background and Objectives: A limited understanding exists regarding the intricate dynamics between the levels of social inhibition exhibited by both wives and husbands concerning their perceived family support and depressive symptoms, particularly within couples who are parents of children diagnosed with autism spectrum disorder (ASD). Materials and Methods: This study used the actor-partner interdependence mediation model to analyze data collected from 397 pairs of Chinese parents with children diagnosed with ASD. Results: The findings of the study revealed significant indirect actor effects, indicating that the levels of social inhibition exhibited by both wives and husbands were associated with their own depressive symptoms through their respective perceptions of family support. In general, the study did not find significant partner effects, except for some indirect effects of wives on their husbands’ depressive symptoms through the wives’ perceived social support. Conclusions: In line with related studies, social inhibition was associated with depressive symptoms. At the same time, perceived family support could be a mediator of depression. Gender differences in emotional expression, influenced by cultural norms and distinct role expectations within the family context, may elucidate why only wives’ perceived family support could impact husbands’ depressive symptoms. These results underscore the potential importance of interventions aimed at addressing social inhibition and enhancing perceived family support to alleviate depressive symptoms in this population. Additionally, encouraging family support for both wives and husbands’ involvement in collaboration may be of benefit in improved outcomes for both parents and children within families affected by ASD.

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34. Pepe G, Coco R, Corica D, Di Rosa G, Bossowski F, Skorupska M, Aversa T, Stagi S, Wasniewska M. Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study. Genes (Basel). 2024; 15(3).

Systematic data on endocrinopathies in Rett syndrome (RTT) patients remain limited and inconclusive. The aim of this retrospective observational two-center study was to assess the prevalence of endocrinopathies in a pediatric population of RTT patients. A total of 51 Caucasian patients (47 girls, 4 boys) with a genetically confirmed diagnosis of RTT were enrolled (mean age 9.65 ± 5.9 years). The patients were referred from the Rett Center of two Italian Hospitals for endocrinological evaluation. All the study population underwent clinical and auxological assessments and hormonal workups. MeCP2 mutations were detected in 38 cases (74.5%), CDKL5 deletions in 11 (21.6%), and FOXG1 mutations in 2 (3.9%). Overall, 40 patients were treated with anti-seizure medications. The most frequent endocrinological finding was short stature (47%), followed by menstrual cycle abnormalities (46.2%), weight disorders (45.1%), low bone mineral density (19.6%), hyperprolactinemia (13.7%) and thyroid disorders (9.8%). In the entire study population, endocrinopathies were significantly more frequent in patients with MeCP2 mutations (p = 0.0005), and epilepsy was more frequent in CDKL5 deletions (p = 0.02). In conclusion, our data highlighted that endocrinopathies are not rare in RTT, especially in patients with MeCP2 deletions. Therefore, in the context of a multidisciplinary approach, endocrinological evaluation should be recommended for RTT patients.

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35. Randol JL, Kim K, Ponzini MD, Tassone F, Falcon AK, Hagerman RJ, Hagerman PJ. Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome. Genes (Basel). 2024; 15(3).

Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from the fragile X messenger ribonucleoprotein 1 (FMR1) gene due to expansion of a 5′-non-coding trinucleotide (CGG) element beyond 200 repeats (full mutation). To better understand the complex relationships among FMR1 allelotype, methylation status, mRNA expression, and FMR1 protein (FMRP) levels, FMRP was quantified in peripheral blood mononuclear cells for a large cohort of FXS (n = 154) and control (n = 139) individuals using time-resolved fluorescence resonance energy transfer. Considerable size and methylation mosaicism were observed among individuals with FXS, with FMRP detected only in the presence of such mosaicism. No sample with a minimum allele size greater than 273 CGG repeats had significant levels of FMRP. Additionally, an association was observed between FMR1 mRNA and FMRP levels in FXS samples, predominantly driven by those with the lowest FMRP values. This study underscores the complexity of FMR1 allelotypes and FMRP expression and prompts a reevaluation of FXS therapies aimed at reactivating large full mutation alleles that are likely not capable of producing sufficient FMRP to improve cognitive function.

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36. Román P, Ruiz-González C, Rueda-Ruzafa L, Cardona D, Requena M, Alarcón R. Exposure to Environmental Pesticides and the Risk of Autism Spectrum Disorders: A Population-Based Case-Control Study. Medicina (Kaunas). 2024; 60(3).

Background and Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in communication, social interactions, and repetitive behaviors. Although the factors that influence the development of this condition are unknown, certain chemical compounds such as pesticides have been proposed as possible contributors. Due to the lack of an established causal link between pesticide exposure and ASD, this study aimed to evaluate this potential association. Materials and Methods: A case-control study was carried out to ascertain the prevalence and risk associated with ASD in relation to pesticide exposure over a 21-year study period (2000-2021). Results: We included 2821 individuals diagnosed with ASD residing in areas of both high and low pesticide exposure in southern Spain. There was a rise in the ASD prevalence rate in regions with elevated pesticide use when compared to regions with low use [odds ratio (OR): 1.34, 95% confidence interval (CI), (1.24-1.44)]. Notably, men had the highest likelihood, with an OR: 1.42, 95% CI, (1.30-1.55). Furthermore, after performing multiple binary logistic regression adjusted for age, sex, and geographical area, males exhibited a higher likelihood compared to females [OR: 2.41, 95% CI, (2.21-2.62)]. Conclusions: Overall, this research suggests a connection between heightened environmental pesticide exposure due to increased agricultural use and autism.

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37. Rouphael M, Sacre Y, Bitar T, Andres CR, Hleihel W. Body Composition and Anthropometric Measurements in Children and Adolescents with Autism Spectrum Disorder: A Case-Control Study in Lebanon. Nutrients. 2024; 16(6).

The occurrence of overweight and obesity among individuals with Autism Spectrum Disorder (ASD) has become a worldwide epidemic. However, there is limited research on this topic in the Lebanese population. Therefore, this study aimed to assess the differences in anthropometric measurements and body composition variables among Lebanese children, pre-adolescents, and adolescents diagnosed with ASD in contrast to typically developing peers across various developmental stages. Additionally, it aimed to investigate the prevalence of overweight and obesity within this population. A total of 86 participants with ASD and 86 controls were involved in this case-control study, conducted between June 2022 and June 2023. Anthropometric measurements and body composition variables were assessed, followed by statistical analyses to examine the differences between these two groups. The results revealed a significantly higher prevalence of overweight and obesity among individuals with ASD, particularly evident during childhood and pre-adolescence. Additionally, this group exhibited a higher body fat mass and total body fat percentage compared to controls. However, there were no significant differences observed between the two groups during adolescence. These findings emphasize the significance of monitoring and addressing weight status in individuals with ASD to improve their overall health outcomes. Future research directions could focus on investigating the underlying mechanisms contributing to the heightened prevalence of overweight and obesity in this population, ultimately enhancing their quality of life and well-being.

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38. Santos Musachio EA, da Silva Andrade S, Meichtry LB, Fernandes EJ, de Almeida PP, Janner DE, Dahleh MMM, Guerra GP, Prigol M. Exposure to Bisphenol F and Bisphenol S during development induces autism-like endophenotypes in adult Drosophila melanogaster. Neurotoxicol Teratol. 2024; 103: 107348.

Bisphenol F (BPF) and Bisphenol S (BPS) are being widely used by the industry with the claim of « safer substances », even with the scarcity of toxicological studies. Given the etiological gap of autism spectrum disorder (ASD), the environment may be a causal factor, so we investigated whether exposure to BPF and BPS during the developmental period can induce ASD-like modeling in adult flies. Drosophila melanogaster flies were exposed during development (embryonic and larval period) to concentrations of 0.25, 0.5, and 1 mM of BPF and BPS, separately inserted into the food. When they transformed into pupae were transferred to a standard diet, ensuring that the flies (adult stage) did not have contact with bisphenols. Thus, after hatching, consolidated behavioral tests were carried out for studies with ASD-type models in flies. It was observed that 1 mM BPF and BPS caused hyperactivity (evidenced by open-field test, negative geotaxis, increased aggressiveness and reproduction of repetitive behaviors). The flies belonging to the 1 mM groups of BPF and BPS also showed reduced cognitive capacity, elucidated by the learning behavior through aversive stimulus. Within the population dynamics that flies exposed to 1 mM BPF and 0.5 and 1 mM BPS showed a change in social interaction, remaining more distant from each other. Exposure to 1 mM BPF, 0.5 and 1 mM BPS increased brain size and reduced Shank immunoreactivity of adult flies. These findings complement each other and show that exposure to BPF and BPS during the development period can elucidate a model with endophenotypes similar to ASD in adult flies. Furthermore, when analyzing comparatively, BPS demonstrated a greater potential for damage when compared to BPF. Therefore, in general these data sets contradict the idea that these substances can be used freely.

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39. Shafi F, Karunakaran A, Ahmad F. Autism, Stigma, and South Asian Immigrant Families in Canada. Int J Environ Res Public Health. 2024; 21(3).

Considerable empirical evidence suggests early recognition of autism and access to support result in long-term positive outcomes for children and youth on the spectrum and their families. However, children of racialized families are often diagnosed at later ages, are more likely to be misdiagnosed, and experience many barriers to service access. There is also a paucity of research exploring the experiences of parents from specific immigrant groups caring for their children on the spectrum in Canada, many of whom identify as members of racialized communities. As such, the main aim of the study was to examine how South Asian immigrant parents in Canada are experiencing available care programs and support. Another aim was to examine their perceptions of social stigma associated with autism. We conducted an inductive thematic analysis of qualitative data from nine interviews with South Asian parents living in Ontario, Canada. Findings confirmed barriers to an autism diagnosis and to service access. Additionally, parents reported pronounced autism stigma, which enacted impediments to timely diagnosis, service access, and health-promoting behaviors. Findings also revealed that parents experience considerable caregiver stress and psychological distress. The generated evidence is anticipated to inform equitable policy, programming, and practices that better support the needs of children on the spectrum and their immigrant families.

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40. Shchubelka K, Turova L, Wolfsberger W, Kalanquin K, Williston K, Kurutsa O, Makovetska A, Hasynets Y, Mirutenko V, Vakerych M, Oleksyk TK. Genetic determinants of global developmental delay and intellectual disability in Ukrainian children. J Neurodev Disord. 2024; 16(1): 13.

BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country’s healthy population. METHODS: The study retrospectively analyzed WES or gene panel sequencing findings of 417 children with global developmental delay, intellectual disability, and/or other symptoms. Variants of uncertain significance were annotated using CADD-Phred and SIFT prediction scores, and their frequency in the healthy population of Ukraine was estimated. RESULTS: A definitive molecular diagnosis was established in 66 (15.8%) of the individuals. WES diagnosed 22 out of 37 cases (59.4%), while the neurodevelopmental gene panel identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non-diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were developmental and epileptic encephalopathies associated with severe epilepsy and GDD/ID (associated genes ARX, CDKL5, STXBP1, KCNQ2, SCN2A, KCNT1, KCNA2). Additionally, we annotated 221 VUS classified as potentially damaging, AD or X-linked, potentially increasing the diagnostic yield by 30%, but 18 of these variants were present in the healthy population of Ukraine. CONCLUSIONS: This is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of deleterious VUS and guide further testing in families.

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41. Shu D, Zhang G, Xue C, Lai Q, He Y, Feng Y, Zhang J, Jia F, Liu D. Intervention Effect of Group Sensory Integration Training on Social Responsiveness and N170 Event-Related Potential of Children with Autism. Behav Sci (Basel). 2024; 14(3).

The objective of this study was to examine the intervention effect of group sensory integration training on social responsiveness, and the latency and amplitude of N170 event-related potential of children with autism. The social responsiveness scale was employed to assess alterations in the social response of individuals with ASD before and after training, while event-related potentials were utilized to measure changes in N170 latency and amplitude. This study revealed that group sensory integration training can significantly enhance social responsiveness in children diagnosed with ASD. Children with ASD exhibit atypical N170 responses to faces in the right parietal region. The latency of N170 changes may serve as a valuable indicator for assessing the effectiveness of an intervention or diagnosing ASD.

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42. Stevenson M, Tedone E. Assessment of Autism Spectrum Disorders in Children with Visual Impairment and Blindness: A Scoping Review. J Autism Dev Disord. 2024.

There is a higher incidence of diagnosed Autism Spectrum Disorder (ASD) in children with visual impairment and blindness (VIB) than in typically sighted children. However, we currently lack appropriate assessment measures to fully understand the neurodevelopment of children with VIB. Numerous factors, such as common characteristics between children with VIB and ASD and the reliance of visual behaviours in assessments of ASD, complicate the clinical and diagnostic understanding of these children. This scoping review aims to describe the published knowledge on ASD assessment in children with VIB. The literature search was performed through MEDLINE, PsycINFO and Scopus. Reference lists of pertinent articles were scrutinized for snowball searching. Articles retained were based on original empirical studies, were relevant to or conducted with children or adolescents with VIB and described assessments for ASD. Pertinent information was extracted, and a thematic analysis was performed. Only 13 articles retrieved pertained to and described the assessment of ASD in children with VIB. The following themes emerged: appropriateness of commonly used ASD assessment tools for children with VIB, modification of pre-existing ASD assessment tools for a better assessment, creation of new assessment tools for this population, time points of assessment, and professional training and practice guidelines. The reviewed literature highlights that there is still much work to be done to better understand the complex relationship between VIB and ASD, and consensus is needed on how best to go about assessing neurodevelopmental disorders in children with VIB.

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43. Tak Y, Schneider A, Santos E, Randol JL, Tassone F, Hagerman P, Hagerman RJ. Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome. Genes (Basel). 2024; 15(3).

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, some have mosaicism in methylation and/or CGG repeat size, and few have completely unmethylated FM alleles. Those with a complete lack of methylation are rare, with little literature about the cognitive and behavioral phenotypes of these individuals. A review of past literature was conducted regarding individuals with unmethylated and mosaic FMR1 FM. We report three patients with an unmethylated FM FMR1 alleles without any behavioral or cognitive deficits. This is an unusual presentation for men with FM as most patients with an unmethylated FM and no behavioral phenotypes do not receive fragile X DNA testing or a diagnosis of FXS. Our cases showed that mosaic males with unmethylated FMR1 FM alleles may lack behavioral phenotypes due to the presence of smaller alleles producing the FMR1 protein (FMRP). However, these individuals could be at a higher risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) due to the increased expression of mRNA, similar to those who only have a premutation.

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44. Zheng A, Mann RS, Solaja D, Allman BL, Schmid S. Properties of the Caudal Pontine Reticular Nucleus Neurons Determine the Acoustic Startle Response in Cntnap2 KO Rats. J Integr Neurosci. 2024; 23(3): 63.

BACKGROUND: Rats with a loss-of-function mutation in the contactin-associated protein-like 2 (Cntnap2) gene have been validated as an animal model of autism spectrum disorder (ASD). Similar to many autistic individuals, Cntnap2 knock-out rats (Cntnap2-⁣/-) are hyperreactive to sound as measured through the acoustic startle response. The brainstem region that mediates the acoustic startle response is the caudal pontine reticular nucleus (PnC), specifically giant neurons in the PnC. We previously reported a sex-dependent genotypic effect in the sound-evoked neuronal activity recorded from the PnC, whereby female Cntnap2-⁣/- rats had a dramatic increase in sound-evoked responses compared with wildtype counterparts, but male Cntnap2-⁣/- rats showed only a modest increase in PnC activity that cannot fully explain the largely increased startle in male Cntnap2-⁣/- rats. The present study therefore investigates activation and histological properties of PnC giant neurons in Cntnap2-⁣/- rats and wildtype littermates. METHODS: The acoustic startle response was elicited by presenting rats with 95 dB startle pulses before rats were euthanized. PnC brain sections were stained and analyzed for the total number of PnC giant neurons and the percentage of giant neurons that expressed phosphorylated cAMP response element binding protein (pCREB) in response to startle stimuli. Additionally, in vitro electrophysiology was conducted to assess the resting state activity and intrinsic properties of PnC giant neurons. RESULTS: Wildtype and Cntnap2-⁣/- rats had similar total numbers of PnC giant neurons and similar levels of baseline pCREB expression, as well as similar numbers of giant neurons that were firing at rest. Increased startle magnitudes in Cntnap2-⁣/- rats were associated with increased percentages of pCREB-expressing PnC giant neurons in response to startle stimuli. Male rats had increased pCREB-expressing PnC giant neurons compared with female rats, and the recruited giant neurons in males were also larger in soma size. CONCLUSIONS: Recruitment and size of PnC giant neurons are important factors for regulating the magnitude of the acoustic startle response in Cntnap2-⁣/- rats, particularly in males. These findings allow for a better understanding of increased reactivity to sound in Cntnap2-⁣/- rats and in CNTNAP2-associated disorders such as ASD.

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