1. Al-Mazidi S, Al-Ayadhi L, Alqahtany F, Abualnaja A, Alzarroug A, Alharbi T, Farhat K, AlMnaizel A, El-Ansary A. The possible role of sodium leakage channel localization factor-1 in the pathophysiology and severity of autism spectrum disorders. Sci Rep;2023 (Jun 16);13(1):9747.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social, stereotypical, and repetitive behaviors. Neural dysregulation was proposed as an etiological factor in ASD. The sodium leakage channel (NCA), regulated by NLF-1 (NCA localization factor-1), has a major role in maintaining the physiological excitatory function of neurons. We aimed to examine the level of NLF-1 in ASD children and correlate it with the severity of the disease. We examined the plasma levels of NLF-1 in 80 ASD and neurotypical children using ELISA. The diagnosis and severity of ASD were based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), Childhood Autism Rating Score, Social Responsiveness Scale, and Short Sensory Profile. Then, we compared the levels of NLF-1 with the severity of the disease and behavioral and sensory symptoms. Our results showed a significant decrease in the plasma levels of NLF-1 in ASD children compared to neurotypical children (p < 0.001). Additionally, NLF-1 was significantly correlated with the severity of the behavioral symptoms of ASD (p < 0.05). The low levels of NLF-1 in ASD children potentially affect the severity of their behavioral symptoms by reducing neuron excitability through NCA. These novel findings open a new venue for pharmacological and possible genetic research involving NCA in ASD children.

Lien vers le texte intégral (Open Access ou abonnement)

2. Brugnaro BH, Fernandes G, Vieira FN, Pavão SL, Rocha N. Following 4 months of social distancing during COVID-19 Pandemic in Brazil did not change aspects of functioning in children and adolescents with developmental disabilities: A longitudinal study. J Intellect Disabil;2023 (Jun 16):17446295231184117.

The COVID-19 pandemic and its demands of social distancing have created challenges in the lives of children/adolescents with developmental disabilities and their families, which would change aspects of children’s functioning. The objetive of this study was to evaluate changes in some components of functioning of children/adolescents with disabilities following 4 months of social distancing during a period of high contamination rate in the year 2020 in Brazil. Participated 81 mothers of children/adolescents with disabilities, 3-17 years, most of them (80%) diagnosed with Down syndrome, cerebral palsy and autism spectrum disorder. Remote assessments of functioning’ aspects including IPAQ, YC-PEM/ PEM-C, Social Support Scale and PedsQL V.4.0. Wilcoxon tests compared the measures, with significance level <0.05. No significant changes in participant's functioning were identified. Social adjustments required to facing the pandemic during two points in time in the midst of the pandemic did not change the evaluated aspects of functioning in our sample of Brazilian.

Lien vers le texte intégral (Open Access ou abonnement)

3. Castelein S, Crutzen S, van Balkom IDC, Bruins J. [The impact of COVID-19 according to people in care at FACT and autism teams: wave 1 and 2 and Omikron wave]. Tijdschr Psychiatr;2023;65(4):234-240.

BACKGROUND: COVID-19 affected our collective well-being. Measures during a pandemic may disproportionately impact individuals with mental illness. AIM: To measure the impact of COVID-19 on clients of FACT and autism teams over three waves. METHOD: Through a digital questionnaire participants (wave 1: n=100; wave 2: n=150; Omikron wave: n=15) reported on:
1. mental health, 2. outpatient care experiences, 3. government measures and information services. RESULTS: Happiness was rated on average with a 6 in the first two waves, positive consequences of wave 1 (clearer world, more reflection) persisted. The most frequently mentioned negative consequences were: decreased social interactions, increased mental problems and daily functioning. No new experiences were mentioned during the Omikron wave. The quality and amount of mental health care was rated ≥7 by 75-80%. Phone and video consultations were the most frequently mentioned positive care experience; missing face-to-face contact was considered most negative. Measures were harder to sustain in the second wave. Vaccination readiness and vaccination coverage were high. CONCLUSION: All COVID-19-waves show a consistent picture. Telepsychiatry was evaluated positively. Considering the results, the mental health sector could be ready for a next lockdown taking into account possibly higher expectations of clients.

Lien vers le texte intégral (Open Access ou abonnement)

4. Dell’Osso L, Carpita B, Nardi B, Benedetti F, Dell’Oste V, Massimetti G, Cremone IM, Barlati S, Castellini G, Luciano M, Bossini L, Rocchetti M, Signorelli MS, Ricca V, Aguglia E, Fagiolini A, Vita A, Politi P, Maj M. Autistic traits distribution in different psychiatric conditions: A cluster analysis on the basis of the Adult Autism Subthreshold Spectrum (AdAS Spectrum) questionnaire. Psychiatry Res;2023 (May 29);326:115270.

Increasing interest is being paid on full-threshold and sub-threshold autism spectrum conditions among adults. Sub-threshold autistic traits (AT) seem to be distributed in a continuum from the clinical to the general population, being particularly higher among subjects with other psychiatric disorders. The aim of the present study was to evaluate the distribution of AT in a sample of subjects with different psychiatric conditions by means of a cluster analysis on the basis of the score reported to the AdAS Spectrum instrument. A total of 738 subjects recruited by seven Italian Universities were divided in 5 groups depending on the clinical diagnosis: Autism spectrum disorder (ASD), subthreshold ASD symptoms (partial ASD), Bipolar disorder (BD), Feeding and eating disorders (FED), and controls (CTLs). All subjects were assessed with the AdAS Spectrum. The cluster analysis identified 3 clusters: the high, medium and low autism clusters. The Restricted interests and rumination domain reported the highest influence in forming the clusters. The high, medium and low autism clusters were respectively more represented in the ASD, partial ASD and CTL groups. The clusters were represented intermediately in the FED and BD groups, confirming the presence of intermediate levels of AT in these clinical populations.

Lien vers le texte intégral (Open Access ou abonnement)

5. Faerman A, Sakallah A, Skiba S, Kansara S, Kopald BE, Lewine JD, Demopoulos C. Language Abilities are Associated with Both Verbal and Nonverbal Intelligence in Children on the Autism Spectrum. Dev Neuropsychol;2023 (Jun 16):1-10.

Intellectual abilities factor into levels of functioning used to characterize autism. Language difficulties are highly prevalent in autism and may impact performance on measures of intellectual abilities. As such, nonverbal tests are often prioritized in classifying intelligence in those with language difficulties and autism. However, the relationship between language abilities and intellectual performance is not well characterized, and the superiority of tests with nonverbal instructions is not well established. The current study evaluates verbal and nonverbal intellectual abilities in the context of language abilities in autism and the potential benefit of tests with nonverbal instructions. Participants were 55 children and adolescents on the autism spectrum who underwent a neuropsychological evaluation as part of a study examining language functioning in autism. Correlation analyses were performed to examine relations between expressive and receptive language abilities. Language abilities (CELF-4) were significantly correlated with all measures of both verbal (WISC-IV VCI) and nonverbal intelligence scores (WISC-IV PRI and Leiter-R). There were no significant differences between nonverbal intelligence measures with verbal or nonverbal instructions. We further discuss the role of assessment of language abilities in interpreting results of intelligence testing in populations with higher prevalence of language difficulties.

Lien vers le texte intégral (Open Access ou abonnement)

6. Faridi F, Seyedebrahimi A, Khosrowabadi R. Brain Structural Covariance Network in Asperger Syndrome Differs From Those in Autism Spectrum Disorder and Healthy Controls. Basic Clin Neurosci;2022 (Nov-Dec);13(6):815-838.

INTRODUCTION: Autism is a heterogeneous neurodevelopmental disorder associated with social, cognitive and behavioral impairments. These impairments are often reported along with alteration of the brain structure such as abnormal changes in the grey matter (GM) density. However, it is not yet clear whether these changes could be used to differentiate various subtypes of autism spectrum disorder (ASD). METHOD: We compared the regional changes of GM density in ASD, Asperger’s Syndrome (AS) individuals and a group of healthy controls (HC). In addition to regional changes itself, the amount of GM density changes in one region as compared to other brain regions was also calculated. We hypothesized that this structural covariance network could differentiate the AS individuals from the ASD and HC groups. Therefore, statistical analysis was performed on the MRI data of 70 male subjects including 26 ASD (age=14-50, IQ=92-132), 16 AS (age=7-58, IQ=93-133) and 28 HC (age=9-39, IQ=95-144). RESULT: The one-way ANOVA on the GM density of 116 anatomically separated regions showed significant differences among the groups. The pattern of structural covariance network indicated that covariation of GM density between the brain regions is altered in ASD. CONCLUSION: This changed structural covariance could be considered as a reason for less efficient segregation and integration of information in the brain that could lead to cognitive dysfunctions in autism. We hope these findings could improve our understanding about the pathobiology of autism and may pave the way towards a more effective intervention paradigm.

Lien vers le texte intégral (Open Access ou abonnement)

7. Folz J, Akdağ R, Nikolić M, van Steenbergen H, Kret ME. Facial mimicry and metacognitive judgments in emotion recognition are distinctly modulated by social anxiety and autistic traits. Sci Rep;2023 (Jun 15);13(1):9730.

Facial mimicry as well as the accurate assessment of one’s performance when judging others’ emotional expressions have been suggested to inform successful emotion recognition. Differences in the integration of these two information sources might explain alterations in the perception of others’ emotions in individuals with Social Anxiety Disorder and individuals on the autism spectrum. Using a non-clinical sample (N = 57), we examined the role of social anxiety and autistic traits in the link between facial mimicry, or confidence in one’s performance, and emotion recognition. While participants were presented with videos of spontaneous emotional facial expressions, we measured their facial muscle activity, asked them to label the expressions and indicate their confidence in accurately labelling the expressions. Our results showed that confidence in emotion recognition was lower with higher social anxiety traits even though actual recognition was not related to social anxiety traits. Higher autistic traits, in contrast, were associated with worse recognition, and a weakened link between facial mimicry and performance. Consequently, high social anxiety traits might not affect emotion recognition itself, but the top-down evaluation of own abilities in emotion recognition contexts. High autistic traits, in contrast, may be related to lower integration of sensorimotor simulations, which promote emotion recognition.

Lien vers le texte intégral (Open Access ou abonnement)

8. Giua G, Lassalle O, Makrini-Maleville L, Valjent E, Chavis P, Manzoni OJJ. Investigating cell-specific effects of FMRP deficiency on spiny projection neurons in a mouse model of Fragile X syndrome. Front Cell Neurosci;2023;17:1146647.

INTRODUCTION: Fragile X syndrome (FXS), resulting from a mutation in the Fmr1 gene, is the most common monogenic cause of autism and inherited intellectual disability. Fmr1 encodes the Fragile X Messenger Ribonucleoprotein (FMRP), and its absence leads to cognitive, emotional, and social deficits compatible with the nucleus accumbens (NAc) dysfunction. This structure is pivotal in social behavior control, consisting mainly of spiny projection neurons (SPNs), distinguished by dopamine D1 or D2 receptor expression, connectivity, and associated behavioral functions. This study aims to examine how FMRP absence differentially affects SPN cellular properties, which is crucial for categorizing FXS cellular endophenotypes. METHODS: We utilized a novel Fmr1-/y::Drd1a-tdTomato mouse model, which allows in-situ identification of SPN subtypes in FXS mice. Using RNA-sequencing, RNAScope and ex-vivo patch-clamp in adult male mice NAc, we comprehensively compared the intrinsic passive and active properties of SPN subtypes. RESULTS: Fmr1 transcripts and their gene product, FMRP, were found in both SPNs subtypes, indicating potential cell-specific functions for Fmr1. The study found that the distinguishing membrane properties and action potential kinetics typically separating D1- from D2-SPNs in wild-type mice were either reversed or abolished in Fmr1-/y::Drd1a-tdTomato mice. Interestingly, multivariate analysis highlighted the compound effects of Fmr1 ablation by disclosing how the phenotypic traits distinguishing each cell type in wild-type mice were altered in FXS. DISCUSSION: Our results suggest that the absence of FMRP disrupts the standard dichotomy characterizing NAc D1- and D2-SPNs, resulting in a homogenous phenotype. This shift in cellular properties could potentially underpin select aspects of the pathology observed in FXS. Therefore, understanding the nuanced effects of FMRP absence on SPN subtypes can offer valuable insights into the pathophysiology of FXS, opening avenues for potential therapeutic strategies.

Lien vers le texte intégral (Open Access ou abonnement)

9. Hameed RA, Ahmed EK, Mahmoud AA, Atef AA. G protein-coupled estrogen receptor (GPER) selective agonist G1 attenuates the neurobehavioral, molecular and biochemical alterations induced in a valproic acid rat model of autism. Life Sci;2023 (Jun 16):121860.

AIMS: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with a rising prevalence in boys rather than girls. G protein-coupled estrogen receptor (GPER) activation by its agonist G1 showed a neuroprotective effect, similar to estradiol. The present study aimed to examine the potential of the selective GPER agonist G1 therapy on the behavioral, histopathological, biochemical, and molecular alterations induced in a valproic acid (VPA)-rat model of autism. MAIN METHODS: VPA (500 mg/kg) was intraperitoneally administered to female Wistar rats (on gestational day 12.5) to induce the VPA-rat model of autism. The male offspring were intraperitoneally administered with G1 (10 and 20 μg/kg) for 21 days. After the treatment process, rats performed behavioral assessments. Then, sera and hippocampi were collected for biochemical and histopathological examinations and gene expression analysis. KEY FINDINGS: GPER agonist G1 attenuated behavioral deficits, including hyperactivity, declined spatial memory and social preferences, anxiety, and repetitive behavior in VPA rats. G1 improved neurotransmission and reduced oxidative stress and histological alteration in the hippocampus. G1 reduced serum free T levels and interleukin-1β and up-regulated GPER, RORα, and aromatase gene expression levels in the hippocampus. SIGNIFICANCE: The present study suggests that activation of GPER by its selective agonist G1 altered the derangements induced in a VPA-rat model of autism. G1 normalized free T levels via up-regulation of hippocampal RORα and aromatase gene expression. G1 provoked estradiol neuroprotective functions via up-regulation of hippocampal GPER expression. The G1 treatment and GPER activation provide a promising therapeutic approach to counteract the autistic-like symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

10. Hanson J, Heslon K, Ogourtsova T. Mental health services and resources for children with developmental disabilities and their families: scan of local practices, gaps, and opportunities created. Front Rehabil Sci;2023;4:1118769.

BACKGROUND: Mental health concerns in children with disabilities are common and have a significant and negative impact. Clinicians have reported high demand for this population to receive early, targeted, and family-centred mental health interventions. OBJECTIVE: We sought to map out and describe existing pediatric mental health services/resources for children with disabilities and their families across clinical sites and local and online communities. METHODS: Using a mixed-method triangulation study design, we outreached to clinical managers at the participating clinical sites and conducted a rapid online search of local in-person, telehealth, and web-based information. The nature, access method, admission criteria, target, focus, and other pertinent information were recorded and analyzed using descriptive statistics and a narrative synthesis approach. RESULTS: Eighty-one (n = 81) services/resources (in-person, n = 48; telehealth, n = 10; web-based information, n = 33) were identified. Few (n = 6, 13%) in-person services had a method of care access through an online booking portal. Nearly half of in-person resources (n = 23, 47%) had admission criteria specific for children with disabilities (e.g., diagnosis, age limit), and many (n = 32, 67%) required a formal referral. A small number of in-person and telehealth services targeted the mental health concerns of the entire family (n = 23, 47%; n = 2, 20%). Very few (n = 13, 16%) services incorporated follow-up support. Important gaps emerged for certain populations (e.g., children with cerebral palsy). Practitioners’ inadequate training when intervening with co-existing mental health demands of children with disabilities was noted by clinical managers. CONCLUSION: Findings could be used to create a user-friendly database to easily identify suitable services and to advocate for services/resources that are lacking.

Lien vers le texte intégral (Open Access ou abonnement)

11. Hendrickx K, De la Marche W, Steyaert J. [Evolutionary psychiatry applied to autism spectrum disorder]. Tijdschr Psychiatr;2023;65(4):266-271.

BACKGROUND: Considering an evolutionary perspective, psychiatric conditions present us with a paradox. How can the high prevalence of those conditions be explained, given the importance of genetic factors in many of them? Evolutionary principles predict that traits with an adverse effect on reproduction undergo negative selection. AIM: To try to formulate an answer to this paradox from the perspective of evolutionary psychiatry by integrating different disciplines. METHOD: We describe some important evolutionary models: the adaptive and maladaptive model, the mismatch model, the trade-off model and the balance model. By way of illustration, we have searched the literature for evolutionary perspectives on autism spectrum disorder. RESULTS: In this narrative review we describe several evolutionary hypotheses about autism spectrum disorder with a framing within the different evolutionary models. We discuss, among others, evolutionary hypotheses regarding gender differences in social skills, the link with more recent evolutionary cognitive development, and autism spectrum disorder as an extreme cognitive outlier. CONCLUSION: We conclude that evolutionary psychiatry offers a complementary point of view on psychiatric conditions and specifically on autism spectrum disorder. A link to neurodiversity and an impetus to clinical translation is made.

Lien vers le texte intégral (Open Access ou abonnement)

12. Holingue C, Pfeiffer D, Ludwig NN, Reetzke R, Hong JS, Kalb LG, Landa R. Prevalence of gastrointestinal symptoms among autistic individuals, with and without co-occurring intellectual disability. Autism Res;2023 (Jun 16)

Gastrointestinal symptoms (GI) are very common among individuals on the autism spectrum. Prior research reports mixed findings regarding whether individuals with autism and co-occurring intellectual disability (ID) have elevated risk of gastrointestinal symptoms relative to individuals with autism alone. GI symptoms can be challenging to assess in individuals with autism spectrum disorder (ASD) and/or ID given challenges with language, communication, and interoception. Prior research has tended to only include individuals with documented presence or absence of GI symptoms or conditions, that is, to exclude observations in which there is uncertainty regarding presence of GI symptoms. Therefore, none of the prior autism studies reported the association between ID and the certainty regarding presence or absence of GI symptoms. The objective of this study was to examine differences in parental certainty and odds of reporting gastrointestinal signs and symptoms among children on the autism spectrum, with and without intellectual disability. Participants were 308 children (36% ID) with a clinical diagnosis of autism spectrum disorder (6-17 years). Parents endorsed whether their child had experienced or displayed a range of signs or symptoms related to GI problems in the past 3 months. Parents of autistic children with ID were less certain about the presence of more subjective symptoms, including abdominal pain, nausea, and bloating. Conversely, certainty regarding more objective signs (e.g., constipation, diarrhea, spitting up, etc.) was not significantly different. More accurate measures for GI signs/symptoms are needed for this population.

Lien vers le texte intégral (Open Access ou abonnement)

13. Kikuchi K, Michikawa T, Morokuma S, Hamada N, Suetsugu Y, Ikeda S, Nakahara K, Kato K, Ochiai M, Shibata E, Tsuji M, Shimono M, Kawamoto T, Ohga S, Kusuhara K. Sleep quality and temperament in association with autism spectrum disorder among infants in Japan. Commun Med (Lond);2023 (Jun 16);3(1):82.

BACKGROUND: Sleep problems and irritable temperaments are common among infants with autism spectrum disorder (ASD). The prospective association between such sleep problems and irritable temperaments and ASDs needs to be determined for elucidating the mechanism and exploring the future intervention study. Thus, in this study, we investigated whether sleep quality and temperament in 1-month-old infants are associated with the onset of ASD in 3-year-old children. We also assessed its sex-stratified associations. METHODS: We conducted a longitudinal study using data from 69,751 mothers and infants from a large-cohort study, the Japan Environment and Children’s Study. We examined the prospective association between infant sleep quality and temperament at 1 month of age and ASD diagnosis by 3 years of age. RESULTS: Here we show infants with longer daytime sleep have a higher risk of later ASD than those with shorter daytime sleep (risk ratio [RR]: 1.33, 95% confidence interval [CI]: 1.01-1.75). Infants who experienced intense crying have a higher risk of ASD than those who did not (RR: 1.31, 95% CI: 1.00-1.72). There is a difference in sex in the association between a bad mood and later ASD. In particular, female infants experiencing bad moods have a higher risk of ASD than others (RR: 3.59, 95% CI: 1.91-6.75). CONCLUSIONS: The study findings provide important information for future intervention to reduce the risk of future ASD.

Lien vers le texte intégral (Open Access ou abonnement)

14. Li W, Huang B, Song Y, Hou L, Shi W. Altered neural mechanisms of deception in individuals with autistic traits. Brain Cogn;2023 (Jun 13);170:106005.

A successful deception involves making a decision, acting on it, and evaluating results. Here, we investigated deception in a non-clinical sample (n = 36) with varying autism traits using a coin-toss paradigm of active deception. The subjects were asked to react to the instructions by clicking one of the two boxes that could mislead their opponents, followed by feedback on their success or failure. During this reaction, their EEG activity was recorded, and the results suggested that people with high autistic traits exhibited longer reaction times and lower amplitude of P3 in the decision-making stage compared to individuals with low autistic traits. The feedback evaluation stage in the high autistic trait group elicited lower amplitude of FRN and P3. Overall, these results indicated that people with high autistic traits experienced difficulties in deceiving, which could be related to atypical neural mechanisms.

Lien vers le texte intégral (Open Access ou abonnement)

15. Madan R, Platto J, Manoharan SR, Monga V. Serotonin Syndrome with Monotherapy of Low-Dose Sertraline in an Adult Patient with Autism Spectrum Disorder. Case Rep Psychiatry;2023;2023:6610152.

Serotonin syndrome, also known as serotonin toxicity, is associated with increased serotonergic activity in the central and the peripheral nervous system. The symptoms can range from mild to potentially life threatening. Given the widespread use of serotonergic agents, the number of cases is on the rise. It is seen with therapeutic medication use, inadvertent interactions between drugs, and intentional self-poisoning, but still known cases with monotherapy of selective serotonin reuptake inhibitors are uncommon. Another known fact is that elevated whole blood serotonin, or hyperserotonemia, is one of the first biomarkers identified in autism spectrum disorder and is present in more than 25% of affected children. We present a case of a 32-year-old male with a history of autism spectrum disorder and depressive disorder who presented to the emergency department with restless agitation, neuromuscular excitability, and autonomic instability. He had been prescribed sertraline 50 mg which he had taken daily as prescribed for 4 days. On the fourth day, he presented to the emergency department with diffuse muscle stiffness, upper extremity tremors, ocular clonus, and inducible ankle clonus. He was diagnosed with probable serotonin syndrome utilizing Hunter’s criteria. Patient’s symptoms resolved within 24 hours with intravenous fluids, lorazepam, and discontinuation of sertraline. This case highlights the importance of a high degree of clinical suspicion in patients even on monotherapy of selective serotonin reuptake inhibitors in therapeutic doses, especially in children and adults with autism spectrum disorder. Due to preexisting hyperserotonemia, they may be more susceptible to serotonin syndrome than the general population.

Lien vers le texte intégral (Open Access ou abonnement)

16. Niarchou M, Miller-Fleming T, Malow BA, Davis LK. The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records. J Neurodev Disord;2023 (Jun 16);15(1):18.

BACKGROUND: Although polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting. METHODS: We computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated participants of European genetic ancestry (EU) from Vanderbilt’s de-identified biobank. Next, we performed phenome wide association studies of the autism PGS within these two genetic ancestries. RESULTS: Seven associations surpassed the Bonferroni adjusted threshold for statistical significance (p = 0.05/1374 = 3.6 × 10(-5)) in the EU participants, including mood disorders (OR (95%CI) = 1.08(1.05 to 1.10), p = 1.0 × 10(-10)), autism (OR (95%CI) = 1.34(1.24 to 1.43), p = 1.2 × 10(-9)), and breast cancer (OR (95%CI) = 1.09(1.05 to 1.14), 2.6 × 10(-5)). There was no statistical evidence for PGS-phenotype associations in the AF participants. Conditioning on the diagnosis of autism or on median body mass index (BMI) did not impact the strength of the reported associations. Although we observed some sex differences in the pattern of associations, there was no significant interaction between sex and autism PGS. Finally, the associations between autism PGS and autism diagnosis were stronger in childhood and adolescence, while the associations with mood disorders and breast cancer were stronger in adulthood. DISCUSSION: Our findings indicate that autism PGS is not only related to autism diagnosis but may also be related to adult-onset conditions, including mood disorders and some cancers. CONCLUSIONS: Our study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings.

Lien vers le texte intégral (Open Access ou abonnement)

17. Riedelbauch S, Gaigg SB, Thiel T, Roessner V, Ring M. Examining a model of anxiety in autistic adults. Autism;2023 (Jun 16):13623613231177777.

Anxiety disorders are common in autism. Research studies have identified factors that influence anxiety in autism, such as difficulties with uncertain situations, difficulties understanding own emotions, differences in processing sensory input (related to our senses) and difficulties regulating emotions. To date, a few studies have considered the combination of these factors within the same sample. This study used structural equation modelling to test the contribution of these factors in autism. Autistic (n = 86) and non-autistic adults (n = 100) completed a battery of self-report questionnaires. Only when applied to each group separately, the broad predictions of the model were confirmed for the autistic group. The model confirmed that difficulties with uncertain situations and in regulating emotions play a central role in anxiety in autism. Difficulties understanding own emotions and differences in processing sensory input both contribute to anxiety indirectly through their respective interrelation with the other two factors (difficulties with uncertain situations and in regulating emotions). Importantly, the results imply that sensory processing differences contribute not only indirectly but also directly to individual differences in anxiety. For the non-autistic group, model fit could only be achieved after removing autism-related traits and sensory processing differences as predictors of anxiety. These results suggest that cause/development and expression of anxiety in autism partially overlap with what is observed in the general population except that sensory processing differences appear to play a relatively unique role in the context of autism.

Lien vers le texte intégral (Open Access ou abonnement)

18. Wang J, Dong P, Zheng S, Mai Y, Ding J, Pan P, Tang L, Wan Y, Liang H. Advances in gut microbiome in metabonomics perspective: based on bibliometrics methods and visualization analysis. Front Cell Infect Microbiol;2023;13:1196967.

BACKGROUND AND AIMS: Gastrointestinal microbial metabolomics is closely related to the state of the organism and has significant interaction with the pathogenesis of many diseases. Based on the publications in Web of Science Core Collection(WoSCC) from 2004 to 2022, this study conducted a bibliometric analysis of this field, aiming to understand its development trend and frontier, and provide basic information and potential points for in-depth exploration of this field. METHODS: All articles on gastrointestinal flora and metabolism published from 2004 to 2022 were collected and identified in WoCSS. CiteSpace v.6.1 and VOSviewer v.1.6.15.0 were used to calculate bibliometric indicators, including number of publications and citations, study categories, countries/institutions, authors/co-cited authors, journals/co-cited journals, co-cited references, and keywords. A map was drawn to visualize the data based on the analysis results for a more intuitive view. RESULTS: There were 3811 articles in WoSCC that met our criteria. Analysis results show that the number of publications and citations in this field are increasing year by year. China is the country with the highest number of publications and USA owns the highest total link strength and citations. Chinese Acad Sci rank first for the number of institutional publications and total link strength. Journal of Proteome Research has the most publications. Nicholson, Jeremy K. is one of the most important scholars in this field. The most cited reference is « Gut flora metabolism of phosphatidylcholine promotes cardiovascular disease ». Burst detection indicates that Urine, spectroscopy, metabonomic and gut microflora are long-standing hot topics in this field, while autism spectrum disorder and omics are likely to be at the forefront of research. The study of related metabolic small molecules and the application of gastrointestinal microbiome metabolomics in various diseases are currently emerging research directions and frontier in this field. CONCLUSION: This study is the first to make a bibliometric analysis of the studies related to gastrointestinal microbial metabolomics and reveal the development trends and current research hotspots in this field. This can contribute to the development of the field by providing relevant scholars with valuable and effective information about the current state of the field.

Lien vers le texte intégral (Open Access ou abonnement)

19. Wang SH, Zhou Q, Chen KY, Ceng CQ, Zhan GD, You C, Xing Y, Zou YY, Deng HZ. Cognitive-adaptive Functioning Gap and Mediating Factors that Impact Adaptive Functioning in Chinese Preschool-aged Children with Autism Spectrum Disorder. J Autism Dev Disord;2023 (Jun 16)

This study aimed to investigate the gap between adaptive functioning and cognitive functioning, especially verbal and nonverbal intelligence quotient (IQ) in Chinese children with ASD. We systematically explored cognitive functioning, ASD severity, early signs of developmental abnormalities, and socioeconomic factors as mediating factors of adaptive functioning. We enrolled 151 children (age: 2.5?6 years) with ASD and categorized them into one group with IQ ≥ 70 and another with IQ < 70. The two groups were calibrated for age, age at diagnosis, and IQ, and the relationship of adaptive skills with vocabulary acquisition index (VAI) and nonverbal index (NVI) were separately analyzed. Results show that the gap between IQ and adaptive functioning was significant in children with ASD having IQ ≥ 70, with both VAI and NVI showing statistically significant differences (all P < 0.001). VAI correlated positively with scores for overall adaptive skills and specific domains, whereas NVI had no significant correlations with adaptive skill scores. Age of first walking unaided had an independent positive correlation (all P < 0.05) with scores of adaptive skills and specific domains. IQ-adaptive functioning gap is significant in children with ASD having IQ ≥ 70, suggesting that defining "high-functioning autism" merely on the basis of IQ is not appropriate. Verbal IQ and early signs of motor development are specific and possible predictors of adaptive functioning in children with ASD, respectively.

Lien vers le texte intégral (Open Access ou abonnement)