1. Autism screening and diagnostic outcomes among toddlers born preterm. Dev Med Child Neurol. 2024.

Lien vers le texte intégral (Open Access ou abonnement)

2. Alayoubi AM, Alfadhli F, Mehnaz, Albalawi AM, Ramzan K, Jelani M, Basit S. A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family. Sci Rep. 2024; 14(1): 25291.

Cerebellar vermis hypoplasia refers to a varying degree of incomplete development of the cerebellum and vermis. A Saudi family with four affected individuals with cerebellar vermis hypoplasia, facial dysmorphology, visual impairment, skeletal, and cardiac abnormalities was ascertained in this study. Three out of four patients could not survive longer and had died in early infancy. Genetic analysis of the youngest affected was performed by genome-wide homozygosity mapping coupled with whole exome sequencing (WES), followed by Sanger validation. Genome-wide genotyping analysis mapped the phenotype to chromosome 8q24.3. Using an autosomal recessive model, considering deleterious variants with minor allele frequency of less than 0.001 in WES data, a homozygous missense variant (NM_025251.2; ARHGAP39; c.1301G > T; p.Cys434Phe) was selected as a potential candidate for the phenotype. The variant (c.1301G > T) in the ARHGAP39 is in the region of homozygosity on chromosome 8q24.3. ARHGAP39 is a Rho GTPase-activating protein 39 and has been known to regulate apoptosis, cell migration, neurogenesis, and cerebral and hippocampal dendritic spine morphology. Mice homozygous for arhgap39 knockouts have shown premature embryonic lethality. Our findings present the first ever human phenotype associated with ARHGAP39 alteration.

Lien vers le texte intégral (Open Access ou abonnement)

3. Albert P, Kaldes G, Tully E, Romski M, Morris RD, Sevcik RA, Dilly L. Measuring autism with the ADOS-2 using a bifactor model. Autism Res. 2024.

The measurement of autism characteristics can be challenging due to variability of social impairments and restricted and repetitive behaviors or interests (RRBs). Psychometrically strong measures such as the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) can improve our capacity for thorough autism assessment. The conceptualization of the ADOS-2 has been shaped by research exploring the structure of its items, which evaluate autism traits associated with social affect and RRBs. Continuously refining our understanding of these items and their relations to other characteristics, such as cognition, is crucial for more accurate autism assessment and diagnosis. This study used data from a sample of 188 school-age children with mostly average cognitive functioning referred for clinical autism evaluations to (1) test the dimensionality of the ADOS-2, Module 3 (appropriate for children with relatively higher verbal ability), across two sets of items (i.e., algorithm only, algorithm with three non-algorithm RRB items) using confirmatory factor analysis (CFA) and (2) examine the relations of cognition to the dimensions tested in the ADOS-2. A bifactor model, featuring a general autism trait and two subfactors (RRB and Social Affect), provided superior fit for algorithm-only and algorithm with three non-algorithm items. Cognitive functioning was not significantly related to the general or specific factors in the model with only algorithm items. While the findings support the validity of the ADOS-2, it may not fully capture RRBs among children referred for autism. This study enhances our understanding of the ADOS-2, highlighting the utility of a bifactor model for characterizing its dimensionality, measuring autism traits with minimal cognitive influence, and identifying its limitations in assessing RRBs.

Lien vers le texte intégral (Open Access ou abonnement)

4. Alsaad A. Autism and Migraine: A Narrative Review. Cureus. 2024; 16(9): e70060.

Both autism spectrum disorder and migraine are heterogeneous disorders from a genetic and phenotypic perspective. Both disorders impact the patient and caregiver’s quality of life. The link between autism spectrum disorder and migraine headaches has been suggested through some similarities in some genetic, structural, and psychopathological studies. However, few clinical studies looked into this association. The diagnosis of migraine in children and adolescents with autism is more challenging for several reasons, for example, the impairment in social communication that is a core feature in autism and has a high comorbidity with language disorders and/or intellectual delay. Pain expression or pain behavior is another challenging reason. This study aims to review the association between autism and migraine and to help improve the clinical assessment of children and adolescents with autism and comorbid migraine.

Lien vers le texte intégral (Open Access ou abonnement)

5. Bierlich AM, Scheel NT, Traiger LS, Keeser D, Tepest R, Georgescu AL, Koehler JC, Plank IS, Falter-Wagner CM. Neural Mechanisms of Social Interaction Perception: Observing Interpersonal Synchrony Modulates Action Observation Network Activation and Is Spared in Autism. Hum Brain Mapp. 2024; 45(15): e70052.

How the temporal dynamics of social interactions are perceived arguably plays an important role in how one engages in social interactions and how difficulties in establishing smooth social interactions may occur. One aspect of temporal dynamics in social interactions is the mutual coordination of individuals’ behaviors during social interaction, otherwise known as behavioral interpersonal synchrony (IPS). Behavioral IPS has been studied increasingly in various contexts, such as a feature of the social interaction difficulties inherent to autism. To fully understand the temporal dynamics of social interactions, or reductions thereof in autism, the neural basis of IPS perception needs to be established. Thus, the current study’s aim was twofold: to establish the basic neuro-perceptual processing of IPS in social interactions for typical observers and to test whether it might differ for autistic individuals. In a task-based fMRI paradigm, participants viewed short, silent video vignettes of humans during social interactions featuring a variation of behavioral IPS. The results show that observing behavioral IPS modulates the Action Observation Network (AON). Interestingly, autistic participants showed similar neural activation patterns as non-autistic participants which were modulated by the behavioral IPS they observed in the videos, suggesting that the perception of temporal dynamics of social interactions is spared and may not underly reduced behavioral IPS often observed in autism. Nevertheless, a general difference in processing social interactions was found in autistic observers, characterized by decreased neural activation in the right middle frontal gyrus, angular gyrus, and superior temporal areas. These findings demonstrate that although the autistic and non-autistic groups indeed differed in the neural processing of social interaction perception, the temporal dynamics of these social interactions were not the reason for these differences in social interaction perception in autism. Hence, spared recruitment of the AON for processing temporal dynamics of social interactions in autism does not account for the widely reported attenuation of IPS in autism and for the widely reported and presently observed differences in social interaction perception in autism.

Lien vers le texte intégral (Open Access ou abonnement)

6. Carson WEt, Major S, Akkineni H, Fung H, Peters E, Carpenter KLH, Dawson G, Carlson DE. Model selection to achieve reproducible associations between resting state EEG features and autism. Sci Rep. 2024; 14(1): 25301.

A concern in the field of autism electroencephalography (EEG) biomarker discovery is their lack of reproducibility. In the present study, we considered the problem of learning reproducible associations between multiple features of resting state (RS) neural activity and autism, using EEG data collected during a RS paradigm from 36 to 96 month-old children diagnosed with autism (N = 224) and neurotypical children (N = 69). Specifically, EEG spectral power and functional connectivity features were used as inputs to a regularized generalized linear model trained to predict diagnostic group (autism versus neurotypical). To evaluate our model, we proposed a procedure that quantified both the predictive generalization and reproducibility of learned associations produced by the model. When prioritizing both model predictive performance and reproducibility of associations, a highly reproducible profile of associations emerged. This profile revealed a distinct pattern of increased gamma power and connectivity in occipital and posterior midline regions associated with an autism diagnosis. Conversely, model selection based on predictive performance alone resulted in non-robust associations. Finally, we built a custom machine learning model that further empirically improved robustness of learned associations. Our results highlight the need for model selection criteria that maximize the scientific utility provided by reproducibility instead of predictive performance.

Lien vers le texte intégral (Open Access ou abonnement)

7. Chen J, Han Z, Wang Z, Chen L, Wang S, Yao W, Xue Z. Identification of immune traits associated with neurodevelopmental disorders by two-sample Mendelian randomization analysis. BMC Psychiatry. 2024; 24(1): 728.

BACKGROUND: One of the main causes of health-related issues in children is neurodevelopmental disorders (NDDs), which include attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS). Nonetheless, there is relatively little prior research looking at the link between immunological inflammation and NDDs. Our work uses a two-sample Mendelian Randomization (MR) approach to provide a thorough evaluation of the causal effects of immune traits on ADHD, ASD, and TS. METHODS: As exposures, 731 immunological traits’ genetic associations were chosen, and the outcomes were genome-wide association data for ADHD, ASD, and TS. The inverse-variance weighted (IVW), weighted median (WM), and MR-Egger methods were used to conduct MR analysis. The results’ robustness, heterogeneity, and horizontal pleiotropy were confirmed using extensive sensitivity analysis. RESULTS: With single-nucleotide polymorphisms serving as instruments and false discovery rate (FDR) correction applied, the study found that significantly higher expression of CD62L on CD62L(+) myeloid DC (IVW, OR: 0.926, 95% CI 0.896~0.958, P = 9.42 × 10(-6), FDR = 0.007) and suggestively higher absolute cell count (AC) of CD28 + DN (CD4-CD8-) (IVW, OR: 0.852, 95% CI = 0.780 ∼ 0.932, P-value = 4.65 × 10(-4), FDR = 0.170) was associated with a lower risk of ADHD. There was no pleiotropy, and the causal relationships were strong according to sensitivity, leave-one-out, and MR-Steiger directionality tests. For ASD and TS, no harmful or protective immune traits were observed. CONCLUSIONS: The results of the study lend credence to the theory that deficiency in CD62L on CD62L(+) myeloid DC and CD28 + DN (CD4-CD8) AC may contribute to the onset of ADHD.

Lien vers le texte intégral (Open Access ou abonnement)

8. Chen MH, Su TP, Hsu JW, Tsai SJ. Autism, youth suicide, and psychedelics: A review of the 21st century evidence. J Chin Med Assoc. 2024; 87(10): 904-11.

The concurrent rise in the prevalence of autism and youth suicide has drawn public health and professional attention. The renaissance of psychedelics in psychiatry occurred in the early 21st century and may suggest a hope for the therapeutic effect of psychedelics in autism and suicide. The psychedelics’ molecular entities are the compounds that modulate the serotoninergic and glutamatergic systems, which play a crucial role in the pathomechanisms underlying autism and suicide. This systematic review comprehensively discussed the prevalence trends of autism and youth suicide globally and in Taiwan and discussed an association between autism and suicidality based on the 21st century clinical and preclinical literature. Furthermore, this review proposed a possible neurobiological connection between autism, suicide, and psychedelics. Finally, this review discussed the potential therapeutic applications of psychedelics in autism and youth suicide.

Lien vers le texte intégral (Open Access ou abonnement)

9. Chen RJ, Lai KH, Lee CH, Lin HY, Lin CC, Chen CH, Chen W, Chen WY, Vo TTT, Lee IT. Exploring the Link between Xerostomia and Oral Health in Mental Illness: Insights from Autism Spectrum Disorder, Depression, Bipolar Disorder, and Schizophrenia. Healthcare (Basel). 2024; 12(20).

BACKGROUND: The relationship between mental disorders and oral health is complex, involving behavioral, biological, and psychosocial factors. This review aims to investigate the impact of mental disorders, including autism spectrum disorder (ASD), depression, bipolar disorder, and schizophrenia, on oral health outcomes. METHODS: A comprehensive review of existing literature was conducted to analyze the oral health outcomes associated with each mental disorder. The focus was on examining dietary habits, oral hygiene behaviors, physiological changes, and medication side effects that contribute to oral health issues. RESULTS: The findings indicate that individuals with ASD often exhibit unique dietary habits and reduced oral hygiene capabilities due to sensory sensitivities, leading to a higher prevalence of dental caries and periodontal diseases. Depression and bipolar disorder are associated with physiological changes such as reduced saliva production and poor oral hygiene behaviors, increasing the risk of oral health problems. Medications used for these conditions exacerbate issues like xerostomia, further elevating the risk of dental diseases. Schizophrenia poses additional challenges, including cognitive impairments and medication side effects that hinder effective oral care, heightening susceptibility to oral diseases. CONCLUSIONS: This review highlights the specific oral health challenges associated with different mental disorders and emphasizes the need for tailored dental care strategies that integrate mental health considerations. The study contributes to the literature by demonstrating the unique oral health impacts of these disorders. However, the findings are limited by the scope of available cross-sectional data and the absence of longitudinal studies. Future research should focus on longitudinal and intervention-based studies to explore causal relationships and develop effective treatments.

Lien vers le texte intégral (Open Access ou abonnement)

10. Ciolino A, Ferreira ML, Loyacono N. Groups and Subgroups in Autism Spectrum Disorder (ASD) Considering an Advanced Integrative Model (AIM). J Pers Med. 2024; 14(10).

BACKGROUND: Autism spectrum disorder (ASD) is related to social communication difficulties, repetitive behaviors, and highly restricted interests beginning early in life. Currently, ASD is more diagnosed than in the past, and new models are needed. The Advanced Integrative Model (AIM) is a new model in which genes and concomitant medical problems to diagnosis (CMPD) and the impact of their rigorous and adequate treatment are considered. METHODS: The role of a dynamic encephalopathy from which the individual response, susceptibilities in the brain and outside the brain, gut barrier and brain-blood-barrier permeabilities, and the plastic nature of the brain is proposed as a tool for diagnosis. The concomitant medical problems (CMP) are those at and outside the brain. The individual response to treatments of CMP is analyzed. RESULTS: The AIM allows for classification into 3 main groups and 24 subgroups. CONCLUSIONS: The groups and subgroups in ASD are obtained taking into account CMPD treatments and individual response.

Lien vers le texte intégral (Open Access ou abonnement)

11. De Laurentiis A, Pastori C, Pinto C, D’Arrigo S, Estienne M, Bulgheroni S, Battaglia G, Gemma M. Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder. Front Psychiatry. 2024; 15: 1462526.

INTRODUCTION: The aim of the study was to assess the efficacy of In-Dex sedation in comparison to oral melatonin and hydroxyzine in individuals with Autism Spectrum Disorder (ASD) undergoing EEG recording and 15 determine which categories of patients exhibit the most favorable response to In-Dex sedation. METHODS: This retrospective observational study involved pediatric patients with ASD who underwent sleep-EEG recording across two periods, before (biennium 2018-19) and after (biennium 2021-22) the routine implementation of In-Dex sedation. Clinical, EEG, and sedation data were stored in a database. A logistic multiple regression model was employed, with the failure of EEG serving as the dependent variable. RESULTS: In the first period 203 EEGs were performed with a rate of failure of 10.8%, while in the second one 177 EEGs were recorded with a percentage of failure of 7.3% (8.3% with MH 23 sedation and 5.8% with In-Dex sedation). No significant adverse events were reported in either period. Multivariate logistic analysis demonstrated that In-Dex decreased the probability of failure (OR=0.25, 25 (0.61-0.88)), while the presence of behavioral disturbances (OR=3.65((1.54-8.85)) and the use of antipsychotic drugs (OR=2.76, (1.09-6.95)) increased it. DISCUSSION: In the light of these results, we can state that In-Dex sedation is safe and reduce EEG failure rate compared to the use of melatonin and hydroxyzine alone, particularly in patients with severe behavioral issues.

Lien vers le texte intégral (Open Access ou abonnement)

12. Dell’Osso L, Nardi B, Calvaruso M, Castellani L, Pronestì C, Cremone IM, Pini S, Carpita B. Breaking Down the Stigma: A Review of the Literature on the Relationships between Autism Spectrum Disorder and Criminal Behavior. Brain Sci. 2024; 14(10).

Background: In recent years, there has been growing interest in the evaluation of autism spectrum disorder (ASD) and autistic traits in prison populations and offenders. Due to misleading headlines and highly publicized criminal cases, the belief that autistic individuals are more prone to commit crimes has spread among the general population, also leading to increasing research on this matter. Aims: In this context, this narrative review aimed to analyze the available scientific literature on the bi-directional link between ASD and criminal behaviors and to assess the key characteristics of eventual ASD offenders, including sociodemographic data, comorbidities, crime-related features, and interactions with the criminal justice system. Results: Our review highlighted that the available studies lack methodological rigor and present controversial results. Overall, the current state of research does not support any definitive correlation between ASD or autistic traits and the predisposition to engage in criminal conduct. Further studies are needed to confirm or reject this hypothesis.

Lien vers le texte intégral (Open Access ou abonnement)

13. Di Giminiani R, La Greca S, Marinelli S, Attanasio M, Masedu F, Mazza M, Valenti M. Locomotion and Postural Control in Young Adults with Autism Spectrum Disorders: A Novel Kinesiological Assessment. J Funct Morphol Kinesiol. 2024; 9(4).

Background/Objectives: The purposes of the present study were to assess gait by using a novel approach that plots two adjacent joint angles and the postural control in individuals with autism (ASD) and individuals with typical neurodevelopmental (TD). Methods: The surface electromyography (sEMG) activity was measured synchronously with the other variables. Twenty young adult men, 10 with TD and 10 with a diagnosis of ASD, took part in this study. Results: There was a significant difference between ASD and TD groups in the area described by the knee-ankle diagram (p < 0.05). The sEMG activity recorded from the lateral gastrocnemius (LG) during the contact phase of gait was significantly lower in the ASD group compared with the TD group (p < 0.05). The sEMG activity recorded in the different postural conditions showed differences in LG and tibialis anterior (TA) between the ASD and TD groups (p < 0.05). Conclusions: The knee-ankle diagram provided a sensitive and specific movement descriptor to differentiate individuals with ASD from individuals with TD. The reduced LG activation is responsible for the reduced area in the knee-ankle diagram and 'toe-walking' in individuals with ASD and represents the common denominator of an altered ankle strategy during locomotion and postural control.

Lien vers le texte intégral (Open Access ou abonnement)

14. Downs J, Wong K, Leonard H. Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome. J Neurodev Disord. 2024; 16(1): 59.

INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT. Little is known how RSBQ scores are associated with genetic and clinical characteristics in RTT. This study investigated relationships between genotype, age, walking, hand function, sleep, and RSBQ total and subscale scores in RTT. METHODS: This is a cross-sectional analysis of data collected in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database. Parent caregivers completed the RSBQ and Sleep Disturbance Scale for Children [subscales for disorders of initiating and maintaining sleep (DIMS), disorders of excessive somnolence (DOES)], and provided information on age, variant type, functional abilities (mobility, hand function), seizure frequency and gastrointestinal problems. Associations between the RSBQ scores and the independent variables were modelled using linear regression. RESULTS: Data were available for 365 individuals with RTT [median (range) age 17.8 (2.9-51.9) years, 2 males]. Compared to adults, 2- to 12-year-old children had higher mean Total, Night-time Behaviour and Fear/Anxiety scores. Compared to individuals with a C-terminal deletion, individuals with the p.Arg255* variant had higher mean Total and Night-time Behaviours scores, whereas the p.Arg294* variant had higher mean Mood scores. Individuals with intermediate mobility and hand function abilities had a higher mean Total score. Total RSBQ and subscale scores were similar across categories for seizures, constipation, and reflux, but were higher with abnormal DIMS and abnormal DOES scores. CONCLUSION: Except for associations with sleep, the RSBQ measures the behavioural phenotype rather than clinical severity in RTT, as traditionally conceptualised in terms of functional abilities and comorbidities. When designing clinical trials, the RSBQ needs to be complemented by other outcome measures to assess specific core functions and associated comorbidities in RTT.

Lien vers le texte intégral (Open Access ou abonnement)

15. Fombonne E. Editorial: An autism case series, vaccine hesitancy, and death by measles. J Child Psychol Psychiatry. 2024; 65(11): 1403-6.

Lien vers le texte intégral (Open Access ou abonnement)

16. Funawatari R, Sumiya M, Iwabuchi T, Senju A. Double-Edged Effects of Social Strategies on the Well-Being of Autistic People: Impact of Self-Perceived Effort and Efficacy. Brain Sci. 2024; 14(10).

BACKGROUND/OBJECTIVES: Autistic people employ various social strategies to form and maintain interpersonal relationships in their daily environments. These strategies can help autistic people with social interactions (leading to self-perceived efficacy of using social strategies), but can also lead to cognitive fatigue (self-perceived effort of using social strategies). However, previous studies have focused primarily on self-perceived effort, overlooking the self-perceived efficacy of using social strategies, and the balance between self-perceived effort and efficacy. To address this gap, this study examined the impact of autistic people’s use of social strategies on their well-being, focusing on self-perceived effort, self-perceived efficacy, and their interaction effect. METHODS: An online survey was conducted among self-reported autistic people in Japan aged 18-65 years, using a modified Compensation Checklist. Data from 104 self-reported autistic participants were analyzed using linear regression. RESULTS: High self-perceived effort in using social strategies was negatively associated with well-being, whereas high self-perceived efficacy was positively associated with well-being. The interaction effect between effort and efficacy was not significant. These results were supported even when loneliness was used as an index of social well-being. Additionally, the number of strategies used by an autistic person was positively associated with well-being. CONCLUSIONS: This study highlights the double-edged effect of autistic people using social strategies, and that using a broader repertoire of social strategies may improve the well-being of autistic people. These findings call for a nuanced approach by researchers and clinicians considering both the positive and negative aspects of using social strategies.

Lien vers le texte intégral (Open Access ou abonnement)

17. Helbig KA, Zahn MR. School-Based Care for Youth with Disabilities: Essentials for Collaboration Between Physicians and Educators. Prim Care. 2024; 51(4): 591-602.

With increasing prevalence of behavioral and mental health concerns, the need for equitable and accessible care is paramount. School providers and primary care physicians (PCPs) can collaborate to provide a full continuum of services, enhancing the overall likelihood of success for school-aged youth with mental health and developmental disorders. To facilitate meaningful collaboration, PCPs should have a general understanding of special education and disability law surrounding determination procedures of a student with a disability. In addition to pharmacologic treatment, PCPs should support evidence-based psychosocial interventions that can be implemented in an educational context.

Lien vers le texte intégral (Open Access ou abonnement)

18. Li Z, Li Y, Tang X, Xing A, Lin J, Li J, Ji J, Cai T, Zheng K, Lingampelly SS, Li K. Causal Metabolomic and Lipidomic Analysis of Circulating Plasma Metabolites in Autism: A Comprehensive Mendelian Randomization Study with Independent Cohort Validation. Metabolites. 2024; 14(10).

BACKGROUND: The increasing prevalence of autism spectrum disorder (ASD) highlights the need for objective diagnostic markers and a better understanding of its pathogenesis. Metabolic differences have been observed between individuals with and without ASD, but their causal relevance remains unclear. METHODS: Bidirectional two-sample Mendelian randomization (MR) was used to assess causal associations between circulating plasma metabolites and ASD using large-scale genome-wide association study (GWAS) datasets-comprising 1091 metabolites, 309 ratios, and 179 lipids-and three European autism datasets (PGC 2015: n = 10,610 and 10,263; 2017: n = 46,351). Inverse-variance weighted (IVW) and weighted median methods were employed, along with robust sensitivity and power analyses followed by independent cohort validation. RESULTS: Higher genetically predicted levels of sphingomyelin (SM) (d17:1/16:0) (OR, 1.129; 95% CI, 1.024-1.245; p = 0.015) were causally linked to increased ASD risk. Additionally, ASD children had higher plasma creatine/carnitine ratios. These MR findings were validated in an independent US autism cohort using machine learning analysis. CONCLUSION: Utilizing large datasets, two MR approaches, robust sensitivity analyses, and independent validation, our novel findings provide evidence for the potential roles of metabolomics and circulating metabolites in ASD diagnosis and etiology.

Lien vers le texte intégral (Open Access ou abonnement)

19. Lunia D, Smith AP. Exploring the Associations between Autistic Traits, Sleep Quality and Well-Being in University Students: A Narrative Review. Healthcare (Basel). 2024; 12(20).

While research on autism spectrum disorder (ASD) has been growing, not enough research has been conducted to understand the impact of autistic traits and the broader autism phenotype (BAP), especially on the sleep quality and well-being of university students. The focus of this paper is to review the existing research on this topic and identify the key areas of interest for future research, presented in the form of a narrative review. While the review identifies the need for research on the topic, it also identifies other factors such as gender, age, culture, and internet and smartphone use that may have an impact on the relationship between autistic traits, sleep quality and well-being in university students. The review also identified the importance of using a larger sample size, appropriate measures, especially for quantifying autistic traits, and an appropriate analysis strategy involving a multivariate analysis.

Lien vers le texte intégral (Open Access ou abonnement)

20. Mashal N, Lellouche N. How Does Understanding of Social Situations and Other’s Intention Contribute to Idiom and Irony Comprehension in Autism Spectrum Disorder?. Brain Sci. 2024; 14(10).

Background/Objectives: Figurative language is a central tool for enriching spoken and written languages, and it is important for building social relationships. Difficulties in figurative language understanding may impair social adjustment. Some studies have found more gaps in the understanding of irony and idioms among children with autism spectrum disorder (ASD) compared to those of their peers with typical development (TD). To date, no studies have examined the relationship between the ability to understand social situations (as a separate ability) and the ability to understand irony and idioms. The present study examined the roles of theory of mind (ToM) and social situation understanding in the comprehension of idioms and ironic criticism. Methods: The current study included 58 participants aged 8-11, including 28 children with high-functioning ASD and 30 children with TD matched by age, gender, and nonverbal intelligence. All the participants completed a ToM questionnaire that assesses their understanding of others’ intentions, as well as a questionnaire pertaining to their comprehension of social situations, ironic criticism, and idioms. Results: TD children outperformed the autistic children in idiom and irony understanding, as well as in ToM and social situation understanding. Understanding social situations and ToM contributed to idiom and irony understanding, with ToM ability uniquely contributing to irony (but not to idiom) understanding. Path analysis revealed that social cognitive abilities mediated the link between group affiliation and vocabulary, affecting figurative language comprehension. Conclusions: The present study demonstrates that social cognition skills influence the ability to understand ironic criticism and idioms, mediating the association between vocabulary and figurative language comprehension.

Lien vers le texte intégral (Open Access ou abonnement)

21. O’Connor M, Griffin C, Corrigan J, Somers C, Delaney M, Larkin F. Autism spectrum disorder (ASD) presentations among referrals to a child and adolescent mental health service (CAMHS) inpatient unit in Ireland. Clin Child Psychol Psychiatry. 2024: 13591045241295419.

This retrospective chart review aimed to identify the intersection between young people with Autism Spectrum Disorder (ASD)’s needs and CAMHS inpatient service needs. A retrospective chart review was conducted on all referrals to a CAMHS inpatient unit over three years (n = 352). Referrals which specified a formal diagnosis or suspected diagnosis of ASD were identified (n = 111), and basic demographic data were collected. Young people with either a formal or suspected diagnosis of ASD referred to the unit presented with a wide range of co-occurring conditions. Of these young people, 30 were admitted to the unit and only 6 of them were engaged with an ASD specialist service. Young people with diagnosed or suspected ASD were more likely to be admitted if they presented with suicidality. Males with diagnosed or suspected ASD were more likely to have a diagnosis of OCD while females with diagnosed or suspected ASD were more likely to present with eating and feeding disorders and personality development difficulties. Findings highlight the lack of a clear care pathway for young people with co-occurring autism or suspected autism and complex mental health problems. Many children and adolescents who are referred to Child and Adolescent Mental Health Services (CAMHS) inpatient units may also have autism spectrum disorder (ASD). It is important that we understand their needs and how best services can support them. METHODS: In this study, we reviewed the files of all young people referred to a CAMHS inpatient service over a 3 year period (n = 352), and identified those where the young person had a diagnosis of ASD, or where the referring clinician suspected the young person may have had autism (n = 111). We collected details about their demographics, the mental health difficulties with which they presented, and the services that were supporting them. RESULTS: We found that young people with either a formal or suspected diagnosis of ASD referred to the unit presented with a wide range of co-occurring conditions. Of these young people, 30 were admitted to the unit and only 6 of them were engaged with an ASD specialist service. Young people with diagnosed or suspected ASD were more likely to be admitted if they presented with suicidality. Males with diagnosed or suspected ASD were more likely to have a diagnosis of OCD while females with diagnosed or suspected ASD were more likely to present with eating and feeding disorders and personality development difficulties. CONCLUSION: Presentations of confirmed and suspected ASD represented a significant number of referrals for inpatient care. This means that it is important for mental health services to work alongside disability services to ensure that the needs of these young people are met. eng.

Lien vers le texte intégral (Open Access ou abonnement)

22. Simione L, Frolli A, Sciattella F, Chiarella SG. Mindfulness-Based Interventions for People with Autism Spectrum Disorder: A Systematic Literature Review. Brain Sci. 2024; 14(10).

BACKGROUND/OBJECTIVES: Mindfulness-based interventions (MBIs) have emerged in recent years as a strong candidate for the treatment of a range of difficulties faced by individuals with autism spectrum disorder (ASD), including cognitive, emotional, and social aspects. Therefore, we aimed to conduct a review that systematically examined the efficacy of MBIs for individuals with ASD and their caregivers. METHODS: This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Our literature search was conducted within the MEDLINE database. We included in the review only longitudinal or intervention studies focusing mainly on mindfulness principles, while we excluded mixed intervention studies. We only included studies that explicitly utilized quantitative methodologies for evaluating the outcomes of the interventions, including mental health indices (e.g., stress, anxiety, depression) and assessments of cognitive and social skills (e.g., attention, prosociality). We conducted also a risk of bias assessment through the method of the Cochrane risk of bias tool for intervention studies ROBINS-I. RESULTS: Thirty-seven studies were included in the review, and we grouped the studies by the targets of the interventions, i.e., adults (n = 12), children and adolescents (n = 9), caregivers and medical staff (n = 13), and combined intervention for both children/adolescents and their parents/caregivers (n = 5). The reviewed papers seem to support the feasibility and utility of mindfulness interventions for persons with ASD and their caregivers, but any recommendations based on this body of evidence should be made with caution due to the overall low quality of the studies conducted so far. CONCLUSIONS: The review reveals a positive outcome, including the alleviation of psychological distress, reduced behavioral problems, and enhanced cognitive and social skills in individuals with ASD. Despite such promising results, the review notes a limitation in the scarcity of MBIs for young patients, emphasizing caution in universally endorsing the existing literature. Moreover, the results underline the urgency of the exploration of tailored interventions for different ASD subgroups, considering varying levels of autism, and expanding support to teachers in educational settings.

Lien vers le texte intégral (Open Access ou abonnement)

23. Sousa C, Tsvetkova P, Pérez-Fuster P, Agius M, Kostova S, Bolesta K, Megda Garcia F, Nanchen B, Tkaczyk AH. Social Inclusion for People with Intellectual Disability and on the Autism Spectrum through Assistive Technologies: Current Needs and Future Priorities. Disabil Rehabil Assist Technol. 2024: 1-13.

CONTEXT: Contemporary technologies, such as mainstream and specialised Assistive Technologies (ATs), are seen as effective. However, there is a noticeable gap between technological progress and the ability to customise these technologies to meet the unique needs and characteristics of neurodivergent individuals, particularly those on the Autism Spectrum and people with Intellectual Disability (pwID). PURPOSE: The goal of this study is to investigate the present requirements and future priorities acknowledged by specialists in the field regarding the progress of social inclusion for this population, making use of ATs. METHODS AND RESULTS: A qualitative survey involving 24 international experts, and its respective thematic analysis reveals challenges in social inclusion, emphasizing communication and physical accessibility, awareness gaps, and stigma. Concurrently, issues surrounding ATs include limited access, insufficient training, and a lack of awareness and skills, with individuals, and families being inadequately involved. CONCLUSION AND IMPLICATIONS: The study proposes strategies for overcoming these challenges, with a focus on accessibility, awareness, skills, family involvement, and customization. Identified research needs encompass scientific development, inclusive approaches, and changes in technological development paradigms. Customization and Accessibility of Assistive Technologies (ATs): The research emphasizes the critical gap between existing ATs and their alignment with the needs of people with Intellectual Disability (pwID) and those on the autism spectrum. This is crucial for rehabilitation since its effectiveness is based on the consideration of individual requirements. In this sense, the present study involves enhancing the adaptability of technologies to support varied communication styles and learning abilities, thereby promoting greater independence and participation in daily activities, also through rehabilitation.Policy and Infrastructure Development: In an innovative manner, the study points out the systemic challenges, including inadequate policies and lack of support infrastructure, that hinder the effective use of ATs. For rehabilitation practices to be impactful, there is a need for policy reform and infrastructure development that prioritizes the provision and integration of ATs into education, employment, and community living. This includes ensuring funding for AT acquisition, creating inclusive educational and work environments, and improving public spaces to accommodate the needs of pwID and on the autism spectrum.Involvement of Individuals and Families in the AT Development Process: The paper highlights the limited involvement of individuals with ID and on the autism spectrum, and their families, in the process of developing and selecting ATs. Therefore, an important implication for rehabilitation is the need to adopt a person-centred approach that actively involves these individuals and their families in decision-making processes and, whenever possible, in co-creation processes. This approach ensures that AT solutions are better suited to the users’ preferences, challenges, and daily life contexts, thereby enhancing the effectiveness of technological aids in supporting social inclusion and autonomy.Adoption of Qualitative, In-Depth Methods in AT Research: The adoption of qualitative research methods in disability and health research significantly contributes to the development of human-centred, context-driven, and personalized technologies and rehabilitation strategies. eng.

Lien vers le texte intégral (Open Access ou abonnement)

24. Sousamli A, Dragioti E, Metallinou D, Lykeridou A, Dourou P, Athanasiadou CR, Anagnostopoulos D, Sarantaki A. Perinatal and Demographic Risk Factors Associated with Autism Spectrum Disorder: A National Survey of Potential Predictors and Severity. Healthcare (Basel). 2024; 12(20).

INTRODUCTION: This study investigates autism spectrum disorders (ASD) in Greece, focusing on estimating prevalence and identifying regional disparities in children aged 4 to 7 years. MATERIALS AND METHODS: Utilizing a quantitative, descriptive, and exploratory methodology, the research employed a structured questionnaire to gather extensive maternal and child health data. RESULTS: The sample consisted of 517 mothers of children diagnosed with ASD from all over Greece, contributing to a nuanced understanding of ASD predictors. This study aims to elucidate the role of prenatal factors in the likelihood of an ASD diagnosis and their impact on the subsequent functionality of children with ASD. The study identified significant predictors of lower functionality in children with ASD, including higher maternal age, delayed ASD diagnosis, lower family income, and higher birth order. Prenatal health issues, such as vaginal bleeding and infections, also influenced functional outcomes. Notably, a family history of neurological or psychiatric conditions appeared protective. DISCUSSION: The regression model demonstrated robust predictive power, underscoring the complexity of genetic, environmental, and socioeconomic factors in ASD development. The findings advocate for early diagnosis and intervention, systematic screening, and addressing socioeconomic disparities to improve functional outcomes. The results support evidence-based service development and policy adjustments to enhance early identification, intervention, and rehabilitation for children with ASD. CONCLUSIONS: Establishing standardized case-recording procedures and an ASD register at national and regional levels is recommended for systematic monitoring and resource evaluation.

Lien vers le texte intégral (Open Access ou abonnement)

25. Tafolla M, Lord C. Longitudinal Analyses of Mental Health in Autistic Individuals: A Systematic Review. Brain Sci. 2024; 14(10).

BACKGROUND/OBJECTIVES: Co-occurring mental health conditions affect autistic individuals at high rates, impacting their well-being and quality of life. Mental health conditions are often appropriate treatment targets that can improve the lives of autistic individuals. Because of this, there is growing interest in predictors of mental health and behavioral outcomes. Given the rapidly evolving evidence base and growing literature using longitudinal cohorts, it is unclear which predictors of symptoms of anxiety and depression are consistent, and which are not. Additionally, it is difficult to deduce which predictors of mental health symptoms at a given time also predict change over time. This can be partially due to the different statistical approaches that are implemented, including trajectory vs. non-trajectory methodologies. METHODS: We conducted a systematic review to evaluate how non-trajectory and trajectory analyses inform our knowledge of how symptoms of anxiety and depression change over time. Additionally, we aimed to identify important predictors of change and later anxiety and depressive symptoms in autistic individuals. RESULTS: There is variability in symptoms of anxiety and depression in autistic individuals. Adaptive skills arose as significant predictors of change and of later symptoms of both anxiety and depression. Peer relationships in school age seem to be particularly important in predicting later symptoms of depression. CONCLUSIONS: This review provides evidence that there are different trajectories and different patterns of mental health symptoms over the lifespan, providing further evidence that autism is a developmental condition that changes over time in different ways for different people. Implications and future directions are further discussed.

Lien vers le texte intégral (Open Access ou abonnement)

26. Teixeira M, Lowenthal R, Rattazzi A, Cukier S, Valdez D, Garcia R, Candela GG, Murillo AR, Leite F, Pinheiro G, Woodcock K, Chung JCY, Mevorach C, Montiel-Nava C, Paula CS. Understanding Emotional Outbursts: A Cross-Cultural Study in Latin American Children with Autism Spectrum Disorder. Brain Sci. 2024; 14(10).

OBJECTIVES: One of the behavioral problems strongly associated with emotional dysregulation (ED) in ASD is emotional outbursts (EOs) characterized by a pattern of challenging behavior that varies across individuals and across time. Cultural factors can modulate the expression of EOs. This study aimed to characterize the profile of emotional outbursts (EOs) in children with autism spectrum disorder (ASD) across various countries in Latin America and to identify clinical, emotional, and contextual factors that contribute to the onset and frequency of EOs within this diverse sample. METHODS: A cross-sectional and cross-cultural study was conducted between 2023 and 2024 comprising samples from five countries in the Latin American Network for Autism-REAL: Argentina, Brazil, Chile, Uruguay, and the Dominican Republic. We studied 689 children with ASD (age x = 8.7 ± 2.6 years) using the Emotional Outburst Questionnaire (EOQ). RESULTS: We identified different types of EO among children with ASD in our sample. The most frequent was the ‘behavioral indicators of emotion’ (52.0%) followed by ‘increased motor activity’ (28.3%), ‘non-speech vocalizations’, (27.6%), ‘mild verbal aggression’ (23.8%), and ‘avoidance’ (21.5%). Children in a bad mood or having a bad day or experiencing irritability were the most significant factors that increased the likelihood of EOs. CONCLUSIONS: Our results revealed that irritability is an important trigger for EOs and should not be disregarded or underestimated when monitoring the mental health of children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

27. Tiwari A, Khera R, Rahi S, Mehan S, Makeen HA, Khormi YH, Rehman MU, Khan A. Correction: Tiwari et al. Neuroprotective Effect of α-Mangostin in Ameliorating Propionic Acid-Induced Experimental Model of Autism in Wistar Rats. Brain Sci. 2021, 11, 288. Brain Sci. 2024; 14(10).

Missing Supplementary Materials: […].

Lien vers le texte intégral (Open Access ou abonnement)

28. van Eck RM, Orriëns LB, Delsing CPA, van den Hoogen FJA, Erasmus CE, van Hulst K. Negative effects on oral motor function after submandibular and parotid botulinum neurotoxin A injections for drooling in children with developmental disabilities. Dev Med Child Neurol. 2024.

AIM: To evaluate negative effects on oral motor function after concurrent submandibular and parotid (four-gland) botulinum neurotoxin A (BoNT-A) injections as a treatment for paediatric drooling. METHOD: This was a retrospective cohort study of 125 children (median age 7 years 7 months [interquartile range 4 years 5 months]) with developmental disabilities, including cerebral palsy, treated with four-gland injections. Most children (90.4%) were previously exposed to submandibular injections. Frequency, severity, and duration of negative effects on oral motor function (i.e. saliva swallowing, eating, drinking, articulation) were evaluated and compared to a reference cohort treated with submandibular injections. RESULTS: Negative effects on oral motor function were reported in 45 children (36.0%), predominantly manifesting as eating-related problems (64.4%). Most negative effects (62.2%) were classified as mild and resolved within 4-weeks post-injunction (53.3%). Compared to the reference cohort, frequency (36.0% vs 33.0%) and duration (53.3% vs 53.6% resolving within 4 weeks) of negative effects were comparable, although problems were more often moderately severe (33.3% vs 10.1%). INTERPRETATION: While negative effects on oral motor function were relatively common after four-gland BoNT-A injections, most problems were mild and resolved promptly. No substantial differences to a reference cohort treated with submandibular injections were observed, although further research should establish the generalizability of these findings in a treatment-naive population. Nevertheless, when submandibular injections prove ineffective, clinicians can confidently consider four-gland injections.

Lien vers le texte intégral (Open Access ou abonnement)

29. Viner HE, Yuill N, Costa AP, Radford H, Kornadt AE. A qualitative interview study on quality of life and ageing experiences of autistic adults. Commun Psychol. 2024; 2(1): 99.

Quality of life across the lifespan has been established as a key research priority by the autism community. Still relatively little is known about the quality of life and ageing experiences of older autistic adults. Most studies to date have used generic measures of quality of life which may not accurately capture the experiences of autistic people. The aim of this qualitative study was to understand how autistic adults experience and define quality of life as they age. We conducted semi-structured interviews with 16 autistic adults aged 40+ from the UK and Luxembourg. Using reflexive thematic analysis, we identified five themes that contribute to quality of life: (1) Diagnosis is pivotal, (2) Connection with others, (3) Autonomy over space and time, (4) ‘Paperwork of life’, (5) Vulnerability. This study identifies autism-specific aspects of quality of life and highlights ways in which ageing and autism intersect and impact quality of life.

Lien vers le texte intégral (Open Access ou abonnement)

30. Vivanti G. Autism Early Intervention – Progress, Steps Backward, and the Reconciliation of Conflicting Narratives. Curr Psychiatry Rep. 2024.

PURPOSE OF REVIEW: We review recent research on interventions, services and supports for children on the autism spectrum, examining both advancements and setbacks. RECENT FINDINGS: Progress has included an increase in quantity and rigor of intervention science, as well as a broadening of disciplines and perspectives engaged in the examination of early interventions, including their effectiveness, social validity and the contextual determinants of implementation outcomes. Setbacks have included the decrease in research involving children on the autism spectrum who have co-occurring profound intellectual disability, minimal or no spoken language, and who require constant assistance with daily living activities. This trend is alarming because it contributes to the marginalization and unmet needs of children who need intervention the most. Additionally, access to early intervention services is unequal and complicated by the misalignment of policy with the evolving evidence base in the field. The recent growth in the depth and breadth of knowledge related to autism early intervention means that policies, practices, advocacy efforts and research directions can be grounded on a more comprehensive evidence base and societal appraisal of autism. Nevertheless, these indisputable markers of success co-exist with conflicting narratives that hinder the establishment of a cohesive agenda to tackle inequities experienced by marginalized subgroups. Reconciliation of conflicting narratives requires a nuanced and compassionate appraisal of sources of tensions and heterogeneity of needs within the autism spectrum.

Lien vers le texte intégral (Open Access ou abonnement)

31. Washington-Nortey M, Angwenyi V, Demissie M, Mwangome E, Eshetu T, Negussie H, Goldsmith K, Healey A, Feyasa M, Medhin G, Belay A, Azmeraw T, Getachew M, Birhane R, Nasambu C, Kifle TH, Kairu A, Mkubwa B, Girma F, Abdurahman R, Tsigebrhan R, Tesfaye L, Mbonani L, Seward N, Charman T, Pickles A, Salomone E, Servili C, Barasa E, Newton CR, Hanlon C, Abubakar A, Hoekstra RA. Supporting African communities to increase resilience and mental health of kids with developmental disabilities and their caregivers using the World Health Organization’s Caregiver Skills Training Programme (SPARK trial): study protocol for a cluster randomised clinical controlled trial. Trials. 2024; 25(1): 713.

BACKGROUND: Most children with developmental disabilities (DD) live in low- and middle-income countries, but access to services is limited, impacting their ability to thrive. Pilot study findings of the World Health Organization’s Caregiver Skills Training (WHO CST) intervention, which equips caregivers with strategies to facilitate learning and adaptive behaviours in children with DD, are promising but evidence from an appropriately powered trial delivered by non-specialist facilitators is lacking. This study will investigate the effectiveness and the resource impacts and costs and consequences of the WHO CST intervention in four sites in rural and urban Kenya and Ethiopia. METHODS: This is a 2-arm multi-site hybrid type-1 effectiveness implementation cluster randomised controlled superiority trial. After baseline assessments (T0) are completed by participants in clusters comprising 7 to 10 caregiver-child dyads, the clusters will be randomised to either the WHO CST intervention arm or a waitlist enhanced care as usual control arm. Further assessments will be completed at endpoint (T1, 18 ± 2 weeks after randomisation) and follow-up (T2, 44 ± 2 weeks after randomisation). The intervention comprises three individualised home visits and nine group sessions with trained non-specialist facilitators. Participants in the control arm will receive the intervention after completing follow-up assessments. We aim to recruit 544 child-caregiver dyads, evenly distributed across the two arms and countries. The co-primary outcomes are the child-focused Child Behavior Checklist (assessing emotional and behavioural problems) and the caregiver-focused Pediatric Quality of Life Inventory (assessing caregiver quality of life), both assessed at endpoint. Secondary outcome measures comprise the two co-primary outcomes at follow-up and ten additional outcome measures at endpoint, assessing stigma-based experiences, depressive symptoms, household food insecurity, child disciplinary strategies and beliefs, CST knowledge and skill competencies, caregiver and child quality of life, social support, and children’s communication modes and functions. After quantitative follow-up assessments are completed, a mixed-methods evaluation approach will be used to investigate implementation processes and acceptability, feasibility, and potential sustainability of the intervention. DISCUSSION: The study’s findings will provide evidence of the effectiveness and resource impacts and costs and consequences of a non-specialist-delivered intervention in under-resourced contexts in one low-income and one middle-income country in East Africa. Findings will inform future research, intervention, and policy efforts to support children with DD and their families in under-resourced majority world contexts. TRIAL REGISTRATION: Pan African Clinical Trial Registry PACTR202310908063134. Registered on October 16, 2023.

Lien vers le texte intégral (Open Access ou abonnement)