1. Abbasi DA, Berry-Kravis E, Zhao X, Cologna SM. Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues. Neurobiol Dis. 2024; 194: 106486.

Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene that results in a deficiency or absence of its protein product, Fragile X Messenger Ribonucleoprotein (FMRP). In recent years, mass spectrometry (MS) – based proteomics has emerged as a powerful tool to uncover the complex molecular landscape underlying FXS. This review provides a comprehensive overview of the proteomics studies focused on FXS, summarizing key findings with an emphasis on dysregulated proteins associated with FXS. These proteins span a wide range of cellular functions including, but not limited to, synaptic plasticity, RNA translation, and mitochondrial function. The work conducted in these proteomic studies provides a more holistic understanding to the molecular pathways involved in FXS and considerably enhances our knowledge into the synaptic dysfunction seen in FXS.

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2. Amnuaylojaroen T, Parasin N, Saokaew S. Exploring the association between early-life air pollution exposure and autism spectrum disorders in children: A systematic review and meta-analysis. Reprod Toxicol. 2024; 125: 108582.

The objective of this meta-analysis is to investigate the association between air pollution and the vulnerability of children to autism spectrum disorders (ASD). A thorough examination and analysis of data obtained from a compilation of 14 studies was undertaken, with a particular emphasis on investigating the effects of nitrogen dioxide (NO(2)), oxide of nitrogen (NO(x)), ozone (O(3)), and particulate matter (PM(10) and PM(2.5)) on individuals diagnosed with ASD. The findings demonstrate a moderate association between exposure to nitrogen dioxide (NO(2)) and ASD, as indicated by a combined odds ratio (OR) of 1.13 and a 95% confidence interval (CI) spanning from 0.77 to 1.549. O(3) shows a combined odds ratio (OR) of 0.82, along with a 95% confidence interval (CI) ranging from 0.49 to 1.14. NO(x) shows a moderate level of heterogeneity (I² = 75.9%, p = 0.002), suggesting that the impact of NO(x) on the risk of ASD. There is a statistically significant relationship between exposure to O(3) and ASD, although the strength of this relationship is diminished. The findings demonstrated a noteworthy correlation between exposure to PM(10) and PM(2.5) and the occurrence of ASD. The study found a significant correlation, in relation to PM(2.5), with a combined odds ratio (OR) of 1.22 and a 95% confidence interval (CI) ranging from 1.11 to 1.34. The findings have significant implications for the formulation of programs aimed at reducing exposure to harmful chemicals, especially among vulnerable groups such as children.

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3. Baek HJ, Yun J, Lee H, Yoo HJ, Lee JY, Kim KS. Disparity in the dental care of children and adolescents with autism spectrum disorder in Korea: a national population-based cross-sectional study. J Clin Pediatr Dent. 2024; 48(2): 82-7.

Individuals with autism spectrum disorders (ASD) have difficulty accessing dental care. We aim to verify whether individuals with ASD are properly managed by checking the frequency of dental visits, cost and severity of dental treatment compared with those without ASD. This cross-sectional study used the Korean Health Insurance Database to analyze the frequency, cost and severity of dental treatment in 209,780 people under the age of 19 with or without ASD in 2020. The average frequency of dental visits for individuals without ASD was 2.98 times, which was significantly higher (p < 0.001) than the 2.89 times for those with ASD. However, the average dental cost for individuals with ASD was USD 132.63, which was significantly higher (p < 0.001) than USD 116.57 for those without ASD. Additionally, the average number of times that individuals without ASD received severe dental treatment was 1.23 times, significantly higher than the 1.15 times for those with ASD. Further, per 10,000 people, we found that trauma treatment was recorded for an average of 21.90 individuals with ASD, significantly higher than the 7.75 recorded for those without ASD (p < 0.001). Individuals with ASD encounter significant disparities in accessing dental care, as evidenced by their relatively infrequent dental visits. This discrepancy can be attributed to various barriers including the financial burden compared with those without ASD.

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4. Bicks LK, Geschwind DH. Functional neurogenomics in autism spectrum disorders: A decade of progress. Curr Opin Neurobiol. 2024; 86: 102858.

Advances in autism spectrum disorder (ASD) genetics have identified many genetic causes, reflecting remarkable progress while at the same time identifying challenges such as heterogeneity and pleiotropy, which complicate attempts to connect genetic risk to mechanisms. High-throughput functional genomic approaches have yielded progress by defining a molecular pathology in the brain of individuals with ASD and in identifying convergent biological pathways through which risk genes are predicted to act. These studies indicate that ASD genetic risk converges in early brain development, primarily during the period of cortical neurogenesis. Over development, genetic perturbations in turn lead to broad neuronal signaling dysregulation, most prominent in glutamatergic cortical-cortical projecting neurons and somatostatin positive interneurons, which is accompanied by glial dyshomeostasis throughout the cerebral cortex. Connecting these developmental perturbations to disrupted neuronal and glial function in the postnatal brain is an important direction in current research. Coupling functional genomic approaches with advances in induced pluripotent stem cell-derived neural organoid development provides a promising avenue for connecting brain pathology to developmental mechanisms.

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5. Bilder DA, Mthembu M, Worsham W, Aguayo P, Knight JR, Deng SW, Singh TP, Davis J. Developing and Implementing a Web-Based Branching Logic Survey to Support Psychiatric Crisis Evaluations of Individuals With Developmental Disabilities: Qualitative Study and Evaluation of Validity. JMIR Ment Health. 2024; 11: e50907.

BACKGROUND: Individuals with developmental disabilities (DD) experience increased rates of emotional and behavioral crises that necessitate assessment and intervention. Psychiatric disorders can contribute to crises; however, screening measures developed for the general population are inadequate for those with DD. Medical conditions can exacerbate crises and merit evaluation. Screening tools using checklist formats, even when designed for DD, are too limited in depth and scope for crisis assessments. The Sources of Distress survey implements a web-based branching logic format to screen for common psychiatric and medical conditions experienced by individuals with DD by querying caregiver knowledge and observations. OBJECTIVE: This paper aims to (1) describe the initial survey development, (2) report on focus group and expert review processes and findings, and (3) present results from the survey’s clinical implementation and evaluation of validity. METHODS: Sources of Distress was reviewed by focus groups and clinical experts; this feedback informed survey revisions. The survey was subsequently implemented in clinical settings to augment providers’ psychiatric and medical history taking. Informal and formal consults followed the completion of Sources of Distress for a subset of individuals. A records review was performed to identify working diagnoses established during these consults. RESULTS: Focus group members (n=17) expressed positive feedback overall about the survey’s content and provided specific recommendations to add categories and items. The survey was completed for 231 individuals with DD in the clinical setting (n=161, 69.7% men and boys; mean age 17.7, SD 10.3; range 2-65 years). Consults were performed for 149 individuals (n=102, 68.5% men and boys; mean age 18.9, SD 10.9 years), generating working diagnoses to compare survey screening results. Sources of Distress accuracy rates were 91% (95% CI 85%-95%) for posttraumatic stress disorder, 87% (95% CI 81%-92%) for anxiety, 87% (95% CI 81%-92%) for episodic expansive mood and bipolar disorder, 82% (95% CI 75%-87%) for psychotic disorder, 79% (95% CI 71%-85%) for unipolar depression, and 76% (95% CI 69%-82%) for attention-deficit/hyperactivity disorder. While no specific survey items or screening algorithm existed for unspecified mood disorder and disruptive mood dysregulation disorder, these conditions were caregiver-reported and working diagnoses for 11.7% (27/231) and 16.8% (25/149) of individuals, respectively. CONCLUSIONS: Caregivers described Sources of Distress as an acceptable tool for sharing their knowledge and insights about individuals with DD who present in crisis. As a screening tool, this survey demonstrates good accuracy. However, better differentiation among mood disorders is needed, including the addition of items and screening algorithm for unspecified mood disorder and disruptive mood dysregulation disorder. Additional validation efforts are necessary to include a more geographically diverse population and reevaluate mood disorder differentiation. Future study is merited to investigate the survey’s impact on the psychiatric and medical management of distress in individuals with DD.

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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. Bradshaw J, O’Reilly C, Everhart KC, Dixon E, Vinyard A, Tavakoli A, Dail RB. Neonatal autonomic regulation as a predictor of autism symptoms in very preterm infants. J Perinatol. 2024.

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8. Broda MD, Bogenschutz M, Dinora P, Prohn S, Lineberry S, West A. Understanding COVID-19 infection among people with intellectual and developmental disabilities using machine learning. Disabil Health J. 2024: 101607.

BACKGROUND: People with intellectual and developmental disabilities (IDD) were disproportionately affected by the COVID-19 pandemic. Predicting COVID-19 infection has been difficult. OBJECTIVE: We sought to address two research questions in this study: 1) to assess the overall utility of a machine learning model to predict COVID-19 diagnosis for people with IDD, and 2) to determine the primary predictors of COVID-19 diagnosis in a random sample of Home and Community Based Services users in one state. METHODS: We merged three major IDD-specific datasets (National Core Indicators, Supports Intensity Scale, Medicaid HCBS expenditures) from one state to create one combined dataset for analyses that included more than 700 variables. We then built a random forest machine learning algorithm to predict COVID-19 diagnosis and to explore the top predictors of such a diagnosis, when present. RESULTS: Our algorithm predicted COVID-19 diagnosis in a random sample of HCBS users with IDD with 62.5% accuracy. The top predictors of having a documented case of COVID-19 among our sample were higher age, having high overall, medical, or behavioral support needs, living in a lower-income neighborhood, total Medicaid expenditure, and higher body mass index. CONCLUSIONS: Results largely followed trends in the general population, and were largely suggestive that increased contact with other people may have exposed a person with IDD to greater COVID-19 risk.

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9. Bury SM, Zulla R, Spoor JR, Flower RL, Nicholas DB, Hedley D. An ecological systems model of employee experience in industry-led autism employment programmes. Autism. 2024: 13623613241241574.

We asked 33 autistic adults from two industry-led employment programmes about their experiences in the programmes. These are programmes started by companies to recruit and support autistic people in work. We also asked about their workplace supports, relationships and how they thought the programme had impacted their life. Understanding the experiences of people in these industry-led employment programmes is important as the information can help to improve the programmes and participants’ experiences. After reviewing the interviews, we found five themes that best described the employee’s experience: (1) working involves multiple job tasks that evolve as the employment context changes; (2) relationships in the workplace are diverse and are influenced by the type of work participants do and the work environment; (3) workplace needs change as the autistic employees learn to navigate their work environment; (4) autistic employees develop a professional identity in the workplace as they master work and feel more integrated in the workplace; and (5) recommendations for the development of supportive workplace environments for autistic people. We explored the way that aspects of the two employment programmes (e.g. training) and factors outside the programme changed with time and contributed to the participant’s experience. We developed a new model to capture individual and workplace factors that contribute to the experience of autistic people who participate in industry employment programmes.

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10. Crisci G, Cardillo R, Mammarella IC. Social Functioning in Children and Adolescents with ADHD and Autism Spectrum Disorder: A Cross-Disorder Comparison. J Clin Child Adolesc Psychol. 2024: 1-14.

OBJECTIVE: Social functioning can be defined according to three main components: social perception, social performance, and social knowledge. Although they are important in daily life relationships and in children’s adaptation, these components have never been tested together in children and adolescents with Attention Deficit/Hyperactivity Disorder (ADHD) or with Autism Spectrum Disorder (ASD) using lab-based tasks. The present study used a cross-disorder approach to compare the performance of children with ADHD and ASD and non-diagnosed (ND) peers utilizing a task that involves these three fundamental social functioning components. METHODS: Two hundred and twenty-five Italian children (86% boys) aged between 8 and 16 (66 with a clinical diagnosis of ADHD; 51 with a clinical diagnosis of ASD, level 1; 108 ND children) were enrolled. The three groups were matched for age, gender, and IQ. Social functioning was assessed using a lab-based task, including videos of problematic interactions among peers, created ad hoc for the study, and a semi-structured interview based on the Social Information Processing model. RESULTS: Data were analyzed using one-way ANOVAs and multinomial mixed effects models. Our findings suggested that both groups with ADHD and ASD presented social functioning difficulties in comparison to ND children. However, a different pattern of performance emerged. Children with ADHD showed higher difficulties in social performance than those with ASD, whereas autistic children revealed more difficulties in social perception and in some aspects of social knowledge. CONCLUSIONS: Our findings have important clinical implications for assessment, intervention, and differential diagnosis, and should encourage clinicians to investigate different aspects of social functioning and identify specific strengths and weaknesses in each social profile.

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11. Galeotti A, Aristei F, Putrino A, Vallese S, Figà-Talamanca L, Vallogini G, Garret-Bernardin AM, Festa P, Magliarditi F, Caputo M. Oral self-inflicted accidental trauma in patients with neurological disorders: a case report of dental management in infants with cerebellar hypoplasia. J Clin Pediatr Dent. 2024; 48(2): 196-203.

Self-inflicted oral injuries, accidental or otherwise, can cause major consequences. Measures need to be taken to protect individuals from chronic self-injurious behaviour; however, there are no official guidelines on the subject. The purpose of this article is to show the case of a 1-year-old patient with neurological disorders who, following the eruption of deciduous teeth, had self-inflicted a traumatic ulcer on his tongue and lower lip. Following a multidisciplinary approach involving several operating units of our hospital to make a diagnosis, an oral device was designed to completely cover the dental elements to prevent recurrence of the trauma and to prevent further worsening of the injuries already caused. The purpose of this work is to demonstrate that although the surgical approach, such as extraction of the dental elements, may be the quickest solution in situations similar to the one presented, the high biological cost and irreversibility of the result lead to seeking alternatives and more conservative solutions such as the one described.

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12. Gao P, Zhou C, Ruan Z, Zhang Z, Fang X. Association between caregiver-child interaction and autistic-like behaviors at around three years of age. J Affect Disord. 2024.

BACKGROUND: The prevalence of autistic-like behaviors is increasing worldwide, both in developed and developing countries. With a high disease burden and complex developmental causes, there has been much interest in the etiology of the disease, and there is a lack of evidence on the relationship between caregiver-child interaction and autistic-like behaviors. AIM/OBJECTIVE: This study investigated the association between caregiver-child interaction and children’s autistic-like behaviors during early childhood. METHOD: The subjects of this study were 171 kindergartens selected from the Longhua Child Cohort Study (LCCS), and a total of 40,237 children around the age of three were included. Sociodemographic characteristics, family income, and frequency of interaction between caregivers and children were all filled in by the child’s primary caregiver, and the adapted Chinese Autism Behavior Checklist was used to assess children’s autism-like behaviors. Tobit Regression and ancovariance analysis (ANCOVA) were used to measure the relationship between caregiver-child interactions (family and social activities) and autism-like behaviors, with a two-tailed p value of <0.05 being significant. RESULTS: Tobit regression analyses found that in the 0-1 year age group, different frequencies of singing activities by caregivers with children (<3 times per week, 3-6 times per week, 6 times or more per week) were significantly negatively associated with autistic-like behaviors in a dose-response manner (B values of -0.323, -0.381, -0.544, all p < 0.0001); in the 1-3 year age group, different frequencies of reading interactions by caregivers with children (<3 times per week, 3-6 times per week, 6 times or more per week) were also significantly negatively associated with autistic-like behaviors in a dose-response manner (B values of -0.388, -0.632, -0.956, all p < 0.0001), and similar associations were found in singing and chatting interactions. CONCLUSIONS: Our findings suggest that higher frequencies of early caregiver-child interactions are associated with lower levers of autistic-like behaviors in children around the age of three years.

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13. Hartman L, Hartman B. An ethical advantage of autistic employees in the workplace. Front Psychol. 2024; 15: 1364691.

Differences between autistic and nonautistic people are often framed as deficits. This research considers whether some of these differences might actually be strengths. In particular, autistic people tend to be less sensitive to their social environment than nonautistic people who are easily influenced by the judgments, opinions, beliefs and actions of others. Because autistic people are less susceptible to social influence, as employees they are more likely to take action when they witness an operational inefficiency or an ethical problem in the organization. By reporting problems, autistic employees may contribute to the introduction of innovations and improvements in organizational processes and effectiveness that result in superior performance. This paper considers whether and the extent to which these differences between autistic and nonautistic employees are moderated by « moral disengagement, » a set of interrelated cognitive mechanisms that allow people to make unethical decisions by deactivating moral self-regulatory processes. While previous research has shown that moral disengagement is related to unethical decisions, there is no research on whether and the extent to which autistic people are vulnerable to moral disengagement. Thirty-three autistic employees and 34 nonautistic employees completed an on-line survey to determine whether differences between autistic and nonautistic employees with regards to (1) likelihood they would voice concerns about organizational dysfunctions, and (2) degree to which they were influenced by the presence of others when deciding to intervene, are moderated by individual differences in moral disengagement. As predicted, autistic participants scored lower on moral disengagement than nonautistic participants. In terms of the moderating effects of moral disengagement, the results are mixed. Although moral disengagement reduced intervention likelihood, there was not a difference between autistic and nonautistic employees in the degree to which intervention likelihood was changed by an individual’s level of moral disengagement. However, there was a difference between autistic and nonautistic employees in the extent to which acknowledging the influence of others was affected by moral disengagement. These findings suggest that autistic adults are not just more likely to intervene when they witness dysfunction or misconduct in an organizational context; they are also less likely to engage in unethical behavior in general due to lower levels of moral disengagement. The reduced susceptibility to the bystander effect evidenced by autistic adults in the workplace may be accounted for, in part, by their lower levels of moral disengagement compared with nonautistic adults.

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14. 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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15. Reddy K, Taksande A, Kurian B. Harnessing the Power of Mobile Phone Technology: Screening and Identifying Autism Spectrum Disorder With Smartphone Apps. Cureus. 2024; 16(2): e55004.

Integrating smartphone applications into screening and identifying autism spectrum disorder (ASD) represents a promising and innovative frontier within healthcare. This forward-looking paper examines the current landscape of ASD screening apps, shedding light on their potential advantages and addressing and navigating significant challenges. One of the most compelling aspects of these apps lies in their potential to democratize access to ASD screening, effectively breaking down geographical barriers. By using the widespread availability of smartphones, these apps make it possible for individuals, caregivers, and healthcare providers to engage in early ASD screening from virtually anywhere. This accessibility is especially crucial in underserved areas or regions with limited access to specialized healthcare services. Moreover, these apps offer a degree of objectivity that traditional screening methods may need help to match. By relying on data-driven algorithms and machine learning, they can provide a more impartial assessment of a child’s behavior, minimizing the potential for subjective bias. This objectivity, combined with the ability to monitor and assess a child’s development over time, empowers caregivers with valuable insights into their child’s progress. However, as with any technological advancement in healthcare, integrating smartphone apps for ASD screening is not without its share of ethical and privacy considerations. Ensuring informed consent is obtained, especially when collecting data from children, is complex and critical. Striking the right balance between collecting necessary data and protecting an individual’s privacy requires careful thought and transparent communication. Additionally, the « digital divide » represents a challenge that needs to be acknowledged and addressed. Not all individuals and families have equal access to smartphones or the technological literacy required to use these apps effectively. This disparity in access must be considered when developing and implementing app-based screening solutions to prevent exacerbating existing healthcare inequalities. Nevertheless, the future of ASD screening apps holds significant promise. Advancements in technology, including integrating advanced sensors, wearables, augmented reality, and machine learning, can further enhance the accuracy and depth of screening. Interdisciplinary collaboration between researchers, developers, clinicians, and educators is crucial to ensure that these apps are effective, culturally sensitive, and user-friendly. Furthermore, integrating these apps into broader healthcare systems, including electronic health records and telehealth platforms, can streamline the screening process and enable a more seamless transition from screening to diagnosis and intervention.

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16. Sakamoto N, Oe M, Ozone M. An Exploratory Study of the Associations Between Sensory Processing Patterns and Emotional/Behavioral Problems in Children with Autism Spectrum Disorder. Kurume Med J. 2024.

AIM: In autism spectrum disorder (ASD), abnormal sensory processing patterns are observed in various sensory modalities, including visual, auditory, touch, olfactory, taste, vestibular, and proprioceptive senses. Few studies have examined the relationship between sensory processing patterns and emotions, or their effects on daily life. We investigated the relationship between sensory processing patterns and emotional/behavioral problems in children with ASD. PARTICIPANTS AND METHODS: A retrospective chart review was conducted. Forty-three children with ASD (33 boys, 10 girls, median age 9 years) in the outpatient clinic of a psychiatric hospital participated; their parent (s) were invited to complete the Sensory Profile 2 (SP2) and the Child Behavior Checklist (CBCL) questionnaires. The participants’ teachers were invited to complete the Teacher’s Report Form (TRF). RESULTS: In the correlation analyses, each of the four quadrants of the SP2 (low registration, sensory seeking, hypersensitivity, and sensory avoiding) had significant positive correlations with different types of emotional and behavioral problems measured by the CBCL. Focusing on emotion, ‘anxious/depressed’ was correlated with low registration (r = 0.41) and sensory avoiding (r = 0.60), while ‘withdrawal/depressed’ was correlated with sensory avoiding (r = 0.46). Only one significant correlation was revealed between the SP2 and the TRF. CONCLUSION: Our results suggest a link between sensory processing patterns and emotional/behavioral problems. In school settings, the relationship between sensory processing patterns and emotional/behavioral problems may be easily overlooked.

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17. Sanami S, Shamsabadi S, Dayhimi A, Pirhayati M, Ahmad S, Pirhayati A, Ajami M, Hemati S, Shirvani M, Alagha A, Abbarin D, Alizadeh A, Pazoki-Toroudi H. Association between cytomegalovirus infection and neurological disorders: A systematic review. Rev Med Virol. 2024; 34(3): e2532.

Cytomegalovirus (CMV) belongs to the Herpesviridae family and is also known as human herpesvirus type 5. It is a common virus that usually doesn’t cause any symptoms in healthy individuals. However, once infected, the virus remains in the host’s body for life and can reactivate when the host’s immune system weakens. This virus has been linked to several neurological disorders, including Alzheimer’s disease, Parkinson’s disease, Autism spectrum disorder, Huntington’s disease (HD), ataxia, Bell’s palsy (BP), and brain tumours, which can cause a wide range of symptoms and challenges for those affected. CMV may influence inflammation, contribute to brain tissue damage, and elevate the risk of moderate-to-severe dementia. Multiple studies suggest a potential association between CMV and ataxia in various conditions, including Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, acute cerebellitis, etc. On the other hand, the evidence regarding CMV involvement in BP is conflicting, and also early indications of a link between CMV and HD were challenged by subsequent research disproving CMV’s presence. This systematic review aims to comprehensively investigate any link between the pathogenesis of CMV and its potential role in neurological disorders and follows the preferred reporting items for systematic review and meta-analysis checklist. Despite significant research into the potential links between CMV infection and various neurological disorders, the direct cause-effect relationship is not fully understood and several gaps in knowledge persist. Therefore, continued research is necessary to gain a better understanding of the role of CMV in neurological disorders and potential treatment avenues.

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18. Soto EF, Orantes D, Russo N, Antshel KM. Autism and sexual and gender minority identity in college students: Examination of self-reported rates, functional outcomes, and treatment engagement. Autism. 2024: 13623613241236228.

Autistic individuals and those who identify with a sexual and/or gender minority are both at risk for various mental health concerns and related impairments. However, the connection between autism and sexual and/or gender minorities and mental health and functional outcomes is not clear. Here, we provide evidence of these connections by analyzing data from a large nationally representative dataset from the American College Health Association-National College Health Assessment III. We found that autistic college students who identify with both sexual and gender minorities reported the highest rates of stress, academic, and mental health concerns including suicidality when compared with autistic college students with or without a sexual and/or gender minority. In addition, college students with at least two identities, such as autism and a sexual minority identity or both a sexual and gender minority identity, reported the next highest rates of concern. These findings affirm the need for mental healthcare providers to consider the intersections of a sexual and gender minority identities in non-autistic and, especially, in autistic college students to develop and provide better support and resources.

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19. The Lancet O. Intellectual and developmental disabilities-an under-recognised driver of cancer mortality. Lancet Oncol. 2024; 25(4): 411.

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20. Torrens WA, Pablo JN, Berryhill ME, Haigh SM. Pattern glare sensitivity distinguishes subclinical autism and schizotypy. Cogn Neuropsychiatry. 2024: 1-18.

INTRODUCTION: Schizophrenia and autism spectrum disorder are distinct neurodevelopmental disorders sharing clinically relevant behaviours. However, early sensory responses show divergent responses. Individuals with schizophrenia typically exhibit cortical hypo-excitability whereas individuals with autism show cortical hyperexcitability. Identifying reliable neurobiological differences between the disorders can diminish misdiagnosis and optimise treatments. METHODS: The pattern glare test (PGT) is a simple measure of behavioural hyperexcitability. It measures the number of illusions seen in a static horizontal grating. We collected PGT data from non-clinical adults varying in traits of autism and schizophrenia (schizotypy). 576 undergraduate students completed an online survey consisting of the Schizotypal Personality Questionnaire – Brief Revised, the Autism Spectrum Quotient, and the PGT. RESULTS: Subclinical autism and schizotypy traits were highly positively correlated. However, only schizotypy scores were significantly predictive of reporting more pattern glare (PG) illusions. When assessing the subcomponents of the schizotypy and autism scores, positive and disorganised schizotypy traits were predictive of reporting more PG illusions. Whereas, subclinical autism factors were not predictive of PG illusions. CONCLUSIONS: High schizotypy performed the PGT in a manner consistent with behavioural hyperexcitability. The PGT distinguished subclinical autistic traits from schizotypy, suggesting potential clinical application.

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21. Trew S, Russell DH. A Rapid Evidence Assessment on The Effectiveness of Interventions for Autistic Adolescents with Harmful Sexual Behaviors. Trauma Violence Abuse. 2024: 15248380241241024.

The management and treatment of harmful sexual behaviors (HSBs) in autistic adolescents is a complex area of research and clinical practice. Autistic adolescents face unique challenges in understanding social and sexual interactions, putting them at a higher risk of engaging in HSBs. Existing research on interventions for HSBs among autistic adults is growing, but evidence for adolescents is not well understood. Thus, understanding the effectiveness of interventions targeting HSBs in autistic adolescents is crucial. We conducted a rapid evidence assessment to review peer-reviewed research on the effectiveness of interventions for autistic adolescents at risk of or engaging in HSBs. In all, 12 studies met the criteria for review. Inclusion criteria required articles to be published in a peer-reviewed journal, be related to HSB prevention and intervention in adolescents aged 12 to 18 with autism spectrum disorder, be written in English, and include original data. Six databases were used, and we screened the titles and abstracts of 34 studies. The reviewed studies described cognitive-behavioral therapy, pharmacological interventions, family involvement, and multidisciplinary team approaches in addressing HSBs. However, the literature has significant limitations and we suggest that the literature is not robust enough to indicate a promising evidence-based approach for interventions for autistic adolescents who are at risk of or who display and engage in HSBs, and the findings are not transferable to practice. Additional research is required to better prepare healthcare professionals for addressing HSBs in autistic adolescents.

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22. Walsh TJ, Kalb LG, Gemmell M, Liu J, Caburnay CA, Gurnett CA, Newland JG. Assessment of COVID-19 Messaging Strategies to Increase Testing for Students With Intellectual and Developmental Disabilities. J Sch Health. 2024.

BACKGROUND: Students with intellectual and developmental disabilities (IDD) were disproportionately impacted by the COVID-19 pandemic. This study’s goal was to assess the effectiveness of 2 messaging strategies on participation in SARS-CoV-2 weekly testing. METHODS: Cluster randomized trials were conducted at 2 school systems, the special school district (SSD) and Kennedy Krieger Institute (Kennedy) to assess messaging strategies, general versus enhanced, to increase weekly screening for SARS-CoV-2. Testing was offered to staff and students from November 23, 2020 to May 26, 2022. The primary outcomes were percentage of students and staff consented weekly and percentage of study participants who had a test performed weekly. Generalized estimating equation models were utilized to evaluate the primary outcomes. RESULTS: Increases in enrollment and testing occurred during study start up, the beginning of school years, and following surges in both systems. No statistical difference was observed in the primary outcomes between schools receiving standard versus enhanced messaging. IMPLICATIONS FOR SCHOOL HEALTH POLICY, PRACTICE, AND EQUITY: Frequent and consistent communication is vital for families and staff. Weekly screening testing within schools is possible and highlighted the importance of utilizing equitable protocols to provide important testing to students with IDD. CONCLUSION: Enhanced messaging strategies did not increase the number of participants enrolled or the percentage of enrolled participants being tested on a weekly basis.

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23. Wojciechowska K, Kwaśny M, Pietrzyk A, Lejman M. Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants – case report and literature review. Ann Agric Environ Med. 2024; 31(1): 147-50.

There are 21 human cyclin-dependent kinases which are involved in regulation of the cell cycle, transcription, RNA splicing, apoptosis and neurogenesis. Five of them: CDK4, CDK5, CDK6, CDK10 and CDK13 are associated with human phenotypes. To date, only 62 patients have been presented with mutated CDK13 gene. Those patients had developmental delay, dysmorphic facial features, feeding difficulties, different structural heart and brain defects. 36 of them had missense mutation affecting the protein kinase domain of CDK13. Our patient is the first person reported so far with a frameshift mutation which introduce premature stop codon in the first exon of the CDK13 gene. She has symptoms characteristic for congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD).

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24. Zheng X, Zhou F, Fu M, Xu L, Wang J, Li J, Li K, Sindermann C, Montag C, Becker B, Zhan Y, Kendrick KM. Patterns of neural activity in response to threatening faces are predictive of autistic traits: modulatory effects of oxytocin receptor genotype. Transl Psychiatry. 2024; 14(1): 168.

Autistic individuals generally demonstrate impaired emotion recognition but it is unclear whether effects are emotion-specific or influenced by oxytocin receptor (OXTR) genotype. Here we implemented a dimensional approach using an implicit emotion recognition task together with functional MRI in a large cohort of neurotypical adult participants (N = 255, male = 131, aged 17-29 years) to establish associations between autistic traits and neural and behavioral responses to specific face emotions, together with modulatory effects of OXTR genotype. A searchlight-based multivariate pattern analysis (MVPA) revealed an extensive network of frontal, basal ganglia, cingulate and limbic regions exhibiting significant predictability for autistic traits from patterns of responses to angry relative to neutral expression faces. Functional connectivity analyses revealed a genotype interaction (OXTR SNPs rs2254298, rs2268491) for coupling between the orbitofrontal cortex and mid-cingulate during angry expression processing, with a negative association between coupling and autistic traits in the risk-allele group and a positive one in the non-risk allele group. Overall, results indicate extensive emotion-specific associations primarily between patterns of neural responses to angry faces and autistic traits in regions processing motivation, reward and salience but not in early visual processing. Functional connections between these identified regions were not only associated with autistic traits but also influenced by OXTR genotype. Thus, altered patterns of neural responses to threatening faces may be a potential biomarker for autistic symptoms although modulatory influences of OXTR genotype need to be taken into account.

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