1. The global epidemiology and health burden of the autism spectrum: findings from the Global Burden of Disease Study 2021. Lancet Psychiatry. 2024.

BACKGROUND: High-quality estimates of the epidemiology of the autism spectrum and the health needs of autistic people are necessary for service planners and resource allocators. Here we present the global prevalence and health burden of autism spectrum disorder from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 following improvements to the epidemiological data and burden estimation methods. METHODS: For GBD 2021, a systematic literature review involving searches in PubMed, Embase, PsycINFO, the Global Health Data Exchange, and consultation with experts identified data on the epidemiology of autism spectrum disorder. Eligible data were used to estimate prevalence via a Bayesian meta-regression tool (DisMod-MR 2.1). Modelled prevalence and disability weights were used to estimate health burden in years lived with disability (YLDs) as the measure of non-fatal health burden and disability-adjusted life-years (DALYs) as the measure of overall health burden. Data by ethnicity were not available. People with lived experience of autism were involved in the design, preparation, interpretation, and writing of this Article. FINDINGS: An estimated 61·8 million (95% uncertainty interval 52·1-72·7) individuals (one in every 127 people) were on the autism spectrum globally in 2021. The global age-standardised prevalence was 788·3 (663·8-927·2) per 100 000 people, equivalent to 1064·7 (898·5-1245·7) autistic males per 100 000 males and 508·1 (424·6-604·3) autistic females per 100 000 females. Autism spectrum disorder accounted for 11·5 million (7·8-16·3) DALYs, equivalent to 147·6 (100·2-208·2) DALYs per 100 000 people (age-standardised) globally. At the super-region level, age-standardised DALY rates ranged from 126·5 (86·0-178·0) per 100 000 people in southeast Asia, east Asia, and Oceania to 204·1 (140·7-284·7) per 100 000 people in the high-income super-region. DALYs were evident across the lifespan, emerging for children younger than age 5 years (169·2 [115·0-237·4] DALYs per 100 000 people) and decreasing with age (163·4 [110·6-229·8] DALYs per 100 000 people younger than 20 years and 137·7 [93·9-194·5] DALYs per 100 000 people aged 20 years and older). Autism spectrum disorder was ranked within the top-ten causes of non-fatal health burden for people younger than 20 years. INTERPRETATION: The high prevalence and high rank for non-fatal health burden of autism spectrum disorder in people younger than 20 years underscore the importance of early detection and support to autistic young people and their caregivers globally. Work to improve the precision and global representation of our findings is required, starting with better global coverage of epidemiological data so that geographical variations can be better ascertained. The work presented here can guide future research efforts, and importantly, decisions concerning allocation of health services that better address the needs of all autistic individuals. FUNDING: Queensland Health and the Bill & Melinda Gates Foundation.

Lien vers le texte intégral (Open Access ou abonnement)

2. Akpeke M, Agbemavi W, Adde KS. Factors that inhibit the social involvement of children with autism: perspectives of parents in the Cape Coast metropolis. BMC Pediatr. 2024; 24(1): 825.

BACKGROUND: Many countries, including Ghana, continue to face challenges concerning the social involvement of persons with disabilities such as autism. This study investigated the factors that inhibit the social involvement of children with autism in the Cape Coast Metropolis. METHODS: The study was conducted in the Cape Coast metropolis. A qualitative interpretivism approach was used. Twenty-three participants were recruited for the study using purposive sampling. An in-depth interview guide was employed for data collection, and thematic analysis was used. RESULTS: We found that most autistic children do not get the opportunity to be involved in social activities due to their autistic features, socio-cultural and their parents’ financial status. The findings also showed that the inability of children with autism to speak fluently and sit for long without being aggressive prevents their inclusion in social activities. However, older children with autism were considered more for activities in the metropolis than those within the younger ages. Financial constraint was a common challenge that prevented some parents from bringing up their children with autism in ways that would make them considerable for social roles. CONCLUSION: Factors such as autistic features, sociocultural and financial constraints inhibited the social involvement of children with autism. Underlining these barriers is the issue of inadequate knowledge of autism and financial barriers for parents of children with autism. We, therefore, recommended that the Ghana Health Service and the Ministry of Health to intensify advocacy programs targeted at educating the public on autism to reduce discrimination.

Lien vers le texte intégral (Open Access ou abonnement)

3. Brett SG, den Houting JE, Black MH, Lawson LP, Trollor J, Arnold SR. Suitability of the DSM-5 social anxiety disorder severity scale for autistic adults. Autism. 2024: 13623613241290547.

Mental health measures used with autistic adults are often only evaluated for use with non-autistic adults, which may cause inaccurate measurement. This is important when measuring social anxiety disorder as some features overlap with social characteristics of autism. This study evaluated one self-report questionnaire measure of social anxiety disorder, the Severity Measure for Social Anxiety Disorder. The Severity Measure for Social Anxiety Disorder is based upon criteria for diagnosis of social anxiety disorder, and we aimed to understand its suitability for autistic adults. The Severity Measure for Social Anxiety Disorder was completed by 284 autistic adults and 80 non-autistic adults who were then asked five follow-up questions about ambiguous questions on the Severity Measure for Social Anxiety Disorder. We found that over half our sample of autistic adults, on at least one question, attributed their answer to something other than anxiety. Furthermore, in autistic adults, one underlying construct of social anxiety did not link their answers on the Severity Measure for Social Anxiety Disorder together, suggesting the Severity Measure for Social Anxiety Disorder might not be suited to capturing social anxiety disorder in autistic adults. To improve measurement, we rescored answers where participants said their response was due to something other than social anxiety, however, the rescored Severity Measure for Social Anxiety Disorder did not only capture social anxiety in autistic adults either. Finally, we analysed the reasons other than social anxiety autistic adults said influenced their answers. We grouped their responses into 10 categories, for example, ‘fatigue’, ‘sensory overwhelm’, and ‘masking’. Overall, our findings suggest caution when using the Severity Measure for Social Anxiety Disorder with autistic adults, and the categories identified may suggest how to measure social anxiety more accurately in autistic adults.

Lien vers le texte intégral (Open Access ou abonnement)

4. Campbell AA, Barroso J, Mogos M, Weitlauf A, Karp SM. Breastfeeding Journeys: Comparing Mothers’ Experiences with Autistic and Neurotypical Infants. J Autism Dev Disord. 2024.

Breastfeeding is a complex task that requires proficiency at several key developmental skills to feed successfully. It is unclear how Autism Spectrum Disorder (ASD) affects an infant’s breastfeeding experience and conflicting reports exist on shortened breastfeeding duration in infants later diagnosed with ASD. The purpose of this study was to describe the experiences of mothers breastfeeding both their autistic and neurotypical children to better understand the differences in their breastfeeding experiences and maternal and infant factors that contributed to breastfeeding cessation in their autistic child. Twenty-four mothers of an autistic child who had feeding difficulties in the first 12 months of life, initiated breastfeeding, and also had a neurotypical child participated in semi-structured interviews regarding breastfeeding initiation, cessation, and challenges encountered during breastfeeding. Analysis revealed four major themes: (1) the struggle with latch, including infant behavior that hindered latching; (2) breastfeeding challenges, including problematic breastfeeding behavior by the infant; (3) cessation of breastfeeding, including physical symptoms of the infant that lead to breastfeeding cessation; and (4) breastfeeding the neurotypical sibling, including mother’s detection of different breastfeeding behaviors in neurotypical and autistic child. Breastfeeding behaviors described by mothers may indicate early signs of autism including early sensory sensitivity, lack of regulation, repetitive behaviors, and impaired social behaviors. Further research is needed to discern if these breastfeeding behaviors can be used to help identify early signs of autism and employed as additional surveillance for neurodevelopmental concerns at a young age.

Lien vers le texte intégral (Open Access ou abonnement)

5. Charman T. Global prevalence of autism in changing times. Lancet Psychiatry. 2024.

Lien vers le texte intégral (Open Access ou abonnement)

6. Chen VC, Lee CT, Wu SI, Gossop M. Neurobehavioral disorders among children born to mothers exposed to illicit substances during pregnancy. BMC Med. 2024; 22(1): 581.

BACKGROUND: Exposure to illicit substances during pregnancy may have long-term impacts on children’s neurodevelopment. This study explores subsequent risks for intellectual disability, autistic disorders, and attention deficit and hyperactivity disorders in children born to mothers exposed to illicit substances before or during pregnancy. METHODS: We identified women with illicit drug use by linking the police records from the « Substance Abuse Control Databases » and Taiwan Birth Registration and Birth Notification records from 2004 to 2014. Children whose mothers that had exposed to illicit substances during pregnancy identified from the police records were the « substance-exposed cohort. » A 1:1 ratio exact-matched comparison cohort based on child’s gender, child’s birth year, mother’s birth year, and child’s first use of the health insurance card, as well as a « propensity score (PS)-matched » comparison cohort of children born by substance-unexposed mothers, was established. Multivariate Cox regression analyses with competing risk models were performed. RESULTS: Higher incidences of intellectual disability (adjusted hazard ratio (aHR) = 2.41, 95% confidence interval (CI): 1.15-5.03) and attention deficit and hyperactivity disorder (ADHD) (aHR = 2.35, 95% CI: 1.63-3.28) were found in children prenatally exposed to illicit substances during pregnancy compared to exact-matched non-exposed cohorts. Adjusted risks of ADHD were significantly higher in mothers exposed to substances during pregnancy (aHR = 1.77 (1.42-2.21)) and before pregnancy (aHR = 1.43 (1.14-1.80)) compared to PS-matched unexposed cohorts after adjusting for covariates. CONCLUSIONS: This is one of the first studies using large population-based data linked to criminal records to reveal increased risks of intellectual disability and ADHD in children with prenatal exposure to illicit substances compared to matched unexposed controls. Our results also highlight the importance of preventive measures and interventions for the well-being of both the mother and the child.

Lien vers le texte intégral (Open Access ou abonnement)

7. Chen Y, Xi Z, Greene T, Mandy W. A systematic review of ecological momentary assessment in autism research. Autism. 2024: 13623613241305722.

Ecological momentary assessments assess people’s in-the-moment thoughts and behaviours in their daily lives in natural environments. The number of ecological momentary assessment studies with autistic people has increased over the last decade. For the first time, this review (1) summarises how well ecological momentary assessment works for allowing autistic people to describe and express their thoughts, emotions and experiences, and (2) provides suggestions for the design of ecological momentary assessment to make this research method more accessible to future autistic participants. In total, we synthesised participation experiences from 930 autistic people. Overall, ecological momentary assessment is generally acceptable for autistic adults aged from 18 to 60 and with average or above-average intelligence and language. We also identified several issues in the ecological momentary assessment procedure and suggested researchers consider these when designing future ecological momentary assessment studies with autistic people. The findings of this review provide evidence that ecological momentary assessment can be used to investigate many different questions with autistic people and suggest a wider application of ecological momentary assessment in future studies with autistic people.

Lien vers le texte intégral (Open Access ou abonnement)

8. Dreyfuss G. RNA-binding proteins in disease etiology: Fragile X Syndrome and Spinal Muscular Atrophy. Rna. 2024.

All RNAs exist in complexes (RNPs) with RNA-binding proteins (RBPs). Studies in my lab since the 1980s, identified, sequenced and characterized the major pre-mRNA- and mRNA-RBPs (hnRNPs/mRNPs), revealing RNA-binding domains and common features of numerous RBPs and their central roles in post-transcriptional gene regulation. The first links between RBPs and RNPs to diseases emerged serendipitously for fragile X syndrome, as its gene (FMR1) encoded RBP (FMRP), and spinal muscular atrophy (SMA), caused by deficits in survival motor neurons (SMN). Discoveries of the SMN complex and its unanticipated function in RNP assembly, essential for spliceosomal snRNPs biogenesis, advanced understanding of RNA biology and pathogenesis. I reflect on how these and other contributions (e.g., nucleo-cytoplasmic shuttling; telescripting) originated from curiosity-driven exploration and highly collaborative lab culture. The vast RNA and RBP assortments are beneficial, but increase complexity and chances of disorders, making the RNP sphere a rich source for future discoveries.

Lien vers le texte intégral (Open Access ou abonnement)

9. Duan P, Dvornek NC, Wang J, Eilbott J, Du Y, Sukhodolsky DG, Duncan JS. SPECTRAL BRAIN GRAPH NEURAL NETWORK FOR PREDICTION OF ANXIETY IN CHILDREN WITH AUTISM SPECTRUM DISORDER. Proc IEEE Int Symp Biomed Imaging. 2024; 2024.

Children with Autism Spectrum Disorder (ASD) frequently exhibit comorbid anxiety, which contributes to impairment and requires treatment. Therefore, it is critical to investigate co-occurring autism and anxiety with functional imaging tools to understand the brain mechanisms of this comorbidity. Multidimensional Anxiety Scale for Children, 2nd edition (MASC-2) score is a common tool to evaluate the daily anxiety level in autistic children. Predicting MASC-2 score with Functional Magnetic Resonance Imaging (fMRI) data will help gain more insights into the brain functional networks of children with ASD complicated by anxiety. However, most of the current graph neural network (GNN) studies using fMRI only focus on graph operations but ignore the spectral features. In this paper, we explored the feasibility of using spectral features to predict the MASC-2 total scores. We proposed SpectBGNN, a graph-based network, which uses spectral features and integrates graph spectral filtering layers to extract hidden information. We experimented with multiple spectral analysis algorithms and compared the performance of the SpectBGNN model with CPM, GAT, and BrainGNN on a dataset consisting of 26 typically developing and 70 ASD children with 5-fold cross-validation. We showed that among all spectral analysis algorithms tested, using the Fast Fourier Transform (FFT) or Welch’s Power Spectrum Density (PSD) as node features performs significantly better than correlation features, and adding the graph spectral filtering layer significantly increases the network’s performance.

Lien vers le texte intégral (Open Access ou abonnement)

10. Frazier TW, Dimitropoulos A, Abbeduto L, Armstrong-Brine M, Kralovic S, Shih A, Hardan AY, Youngstrom EA, Uljarević M. Psychometric evaluation of the Autism Symptom Dimensions Questionnaire. Dev Med Child Neurol. 2024.

AIM: To replicate and extend previous psychometric findings for the Autism Symptom Dimensions Questionnaire (ASDQ). METHOD: Using a cross-sectional design in two samples, including a total of 3366 children and adolescents (aged 2-17 years; 1399 with autism spectrum disorder) and a small case series, factor structure, measurement invariance, reliability, construct validity, screening and diagnostic efficiency, and detection of reliable change were examined for the ASDQ. RESULTS: Strong psychometric properties were observed, including replicable factor structure, strong measurement invariance, adequate-to-excellent scale and conditional reliability, strong convergent and discriminant validity, and good screening efficiency. Importantly, two crucial measurement aspects required for a good treatment outcome measure were found, that is, good test-retest stability and the potential to detect reliable change. As expected for an informant-reported questionnaire, diagnostic efficiency was weak. INTERPRETATION: The ASDQ showed evidence of favorable and well-replicated psychometric properties in two samples. Good screening but weak diagnostic efficiency, coupled with good test-retest stability, suggest that optimal clinical use is in screening and in detailed clinical characterization beyond what is offered by current informant-reported measures, with the potential for monitoring response to intervention. Despite relative brevity, the ASDQ provides good coverage of broad and specific aspects of the autism behavioral phenotype, which is consistent with the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.

Lien vers le texte intégral (Open Access ou abonnement)

11. Fucà E, Vicari S, Costanzo F. Adaptive and Behavioral Profiles in Down Syndrome and Co-Occurring Autism Spectrum Disorder: A Case-Control Study. Autism Res. 2024.

Down syndrome (DS) is the most frequent genetic cause of intellectual disability (ID). Individuals with DS exhibit an elevated risk of other neurodevelopmental disorders, including autism spectrum disorder (ASD). The primary objective of this study was to explore the clinical characteristics of co-occurring ASD in children and adolescents with DS using a case-control approach. We compared the adaptive and behavioral profiles of a group of participants with both DS and ASD (ASD group) with a group of participants with DS-only matched by age, sex, and IQ (CON group). Participants in the ASD group exhibited significantly lower adaptive skills than the CON group, despite the IQ-matching in the moderate/severe ID range. No group differences emerged on internalizing or externalizing behavioral symptoms, but participants in the ASD group exhibited significantly higher social withdrawal, stereotyped behavior, and restricted interests. These findings indicate that, although children with DS-with or without ASD-who have similar low cognitive functioning often exhibit common behavioral traits, paying close attention to the elevation of stereotyped behaviors or restricted interests can improve the detection of co-occurring ASD in this population, enabling more personalized interventions. Conversely, the presence of ritualistic behaviors or behaviors related to insistence on sameness may not be a strong indicator of underlying ASD in children with DS. Additionally, acknowledging that the presence of ASD contributes to adaptive behavior deficits beyond the impact of moderate-to-severe ID alone highlights the critical need for early interventions to enhance daily living skills in this population.

Lien vers le texte intégral (Open Access ou abonnement)

12. Goodrich AJ, Tancredi DJ, Ludeña YJ, Bennett DH, Hertz-Picciotto I, Schmidt RJ. Professionally and non-professionally applied household insecticides during pregnancy and early life and their associations with autism spectrum disorder and developmental delay in the CHARGE case-control study. Environ Res. 2024; 267: 120651.

BACKGROUND: Autism Spectrum Disorder (ASD) is an increasing concern globally, with risks attributed to both genetic and environmental factors, including pesticide exposures. The CHARGE case-control study collected data to examine the relationship between household insecticide use and ASD or developmental delay (DD). METHODS: Participants (n = 1526) aged 2-5 years from the CHARGE study encompassed children with clinically confirmed ASD (n = 810), DD (n = 186), and typically developing controls (n = 530) frequency matched to ASD children by age, sex, and geographic region. Household insecticide use was determined from parent interviews, as were the timing, frequency, and type of applications (professionally or non-professionally applied; indoor, outdoor, and flea applications) from three months pre-conception to the child’s second birthday. Logistic regression models were adjusted for confounders to estimate odds ratios (OR) for ASD or DD associated with insecticide exposure. RESULTS: Professionally applied indoor insecticides were associated with greater than two-fold increased odds of ASD for all time periods (OR: pre-pregnancy, 2.62 (1.26, 5.44); pregnancy, 2.52 (1.41, 4.48); year 1, 2.20 (1.33, 3.64); year 2, 2.13 (1.29, 3.49)). Odds were also elevated for any outdoor application during years 1 and 2 (OR: 1.37 (1.05, 1.79) and 1.34 (1.03, 1.74), respectively), however, significance did not hold after false discovery rate correction. Higher exposure frequency was associated with greater odds of ASD for nearly all application types and time periods. Non-professional indoor insecticide use was associated with increased odds of DD in trimester 3 and the pregnancy period (OR: 1.72 (1.03, 2.89) and 1.58 (1.03, 2.40), respectively). CONCLUSION: Professionally applied indoor insecticides were consistently associated with ASD. The strong trend of increased odds with more frequent exposures, additional evidence for DD, and widespread use of household insecticides support increased regulatory scrutiny and public health interventions to minimize exposure during critical developmental windows.

Lien vers le texte intégral (Open Access ou abonnement)

13. Grzadzinski R, Mata K, Bhatt AS, Jatkar A, Garic D, Shen MD, Girault JB, St John T, Pandey J, Zwaigenbaum L, Estes A, Shen AM, Dager S, Schultz R, Botteron K, Marrus N, Styner M, Evans A, Kim SH, McKinstry R, Gerig G, Piven J, Hazlett H. Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome. J Neurodev Disord. 2024; 16(1): 70.

BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research.

Lien vers le texte intégral (Open Access ou abonnement)

14. Hewitson L, Mathews JA, Devlin M, Schutte C, Lee J, German DC. Blood biomarker discovery for autism spectrum disorder: A proteomic analysis. PLoS One. 2024; 19(12): e0302951.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Given the lack of specific pharmacological therapy for ASD and the clinical heterogeneity of the disorder, current biomarker research efforts are geared mainly toward identifying markers for determining ASD risk or for assisting with a diagnosis. A wide range of putative biological markers for ASD are currently being investigated. Proteomic analyses indicate that the levels of many proteins in plasma/serum are altered in ASD, suggesting that a panel of proteins may provide a blood biomarker for ASD. Serum samples from 76 boys with ASD and 78 typically developing (TD) boys, 2-10 years of age, were analyzed to identify possible early biological markers for ASD. Proteomic analysis of serum was performed using SomaLogic’s SOMAScanTM assay 1.3K platform. A total of 1,125 proteins were analyzed. There were 86 downregulated proteins and 52 upregulated proteins in ASD (FDR < 0.05). Combining three different algorithms, we found a panel of 12 proteins that identified ASD with an area under the curve (AUC) = 0.8790±0.0572, with specificity and sensitivity of 0.8530±0.1076 and 0.8324±0.1137, respectively. All 12 proteins were significantly different in ASD compared with TD boys, and 4 were significantly correlated with ASD severity as measured by ADOS total scores. Using machine learning methods, a panel of serum proteins was identified that may be useful as a blood biomarker for ASD in boys. Further verification of the protein biomarker panel with independent test sets is warranted.

Lien vers le texte intégral (Open Access ou abonnement)

15. Kadekaru R, Yamanaka T, Okanishi T, Maegaki Y, Inoue M. Comparison of the Effectiveness of Online and Face-to-Face Parent Training for Parents of Children With Developmental Disabilities. Cureus. 2024; 16(11): e73895.

BACKGROUND: Parent training (PT) is an effective intervention for improving children’s behavioral problems and enhancing parental mental health in those caring for children with developmental disabilities (DD). Recent studies report the effectiveness of online PT (ON-PT). ON-PT encompasses both the on-demand type and the real-time type, which involves real-time online group PT delivered through web conferencing systems. However, the efficacy of the on-demand type has been established through comparisons with face-to-face PT (F2F-PT), whereas the real-time type of ON-PT has been assessed exclusively in single-arm studies, underscoring the need for comparative analyses with F2F-PT to validate its effectiveness. This study aims to compare the effectiveness of the real-time type of ON-PT and F2F-PT for parents of children with DD using a retrospective study design. METHODS: The analysis included data from 13 parent-child pairs in the F2F-PT and 27 parent-child pairs in the ON-PT. Assessment scales included parental depression and stress, evaluated using the Beck Depression Inventory-Second Edition (BDI-II) and Parenting Stress Index (PSI), respectively, as well as children’s behavioral problems, measured with the Eyberg Child Behavior Inventory (ECBI). A two-way repeated-measures ANOVA assessed the impact of different PT delivery methods and time on the outcome variables. RESULTS: Attendance and dropout rates were similar between ON-PT (82%, 18.7%) and F2F-PT (80.3%, 18.1%). A two-way repeated-measures ANOVA showed that the interaction effect was marginally significant for PSI (p = 0.066) and statistically significant for both the child domain of PSI (p = 0.049) and ECBI (p = 0.013). Simple main effects analysis indicated that pre-test mean scores for PSI (p < 0.001), the child domain of PSI (p = 0.001), and ECBI (p = 0.002) were significantly higher than post-test scores in the ON-PT compared with the F2F-PT. Furthermore, although a higher proportion of participants in the ON-PT were within the clinical range of ECBI at the pre-test (70.4%) compared to the F2F-PT, this proportion decreased to 44.4% at the post-test. CONCLUSION: This study suggests that ON-PT may be as effective as or potentially more effective than F2F-PT. The adoption of online formats should be considered for families facing challenges, as ON-PT may improve children's behavioral problems and reduce parental stress. Nonetheless, the retrospective study design warrants caution in interpreting the findings, and a future study with a prospective, rigorous validation design will be essential to effectively compare the effectiveness of ON-PT and F2F-PT.

Lien vers le texte intégral (Open Access ou abonnement)

16. Kothare H, Ramanarayanan V, Neumann M, Liscombe J, Richter V, Lampinen L, Bai A, Preciado C, Brogan K, Demopoulos C. Vocal and Facial Behavior During Affect Production in Autism Spectrum Disorder. J Speech Lang Hear Res. 2024: 1-16.

PURPOSE: We investigate the extent to which automated audiovisual metrics extracted during an affect production task show statistically significant differences between a cohort of children diagnosed with autism spectrum disorder (ASD) and typically developing controls. METHOD: Forty children with ASD and 21 neurotypical controls interacted with a multimodal conversational platform with a virtual agent, Tina, who guided them through tasks prompting facial and vocal communication of four emotions-happy, angry, sad, and afraid-under conditions of high and low verbal and social cognitive task demands. RESULTS: Individuals with ASD exhibited greater standard deviation of the fundamental frequency of the voice with the minima and maxima of the pitch contour occurring at an earlier time point as compared to controls. The intensity and voice quality of emotional speech were also different between the two cohorts in certain conditions. Additionally, facial metrics capturing the acceleration of the lower lip, lip width, eye opening, and vertical displacement of the eyebrows were also important markers to distinguish between children with ASD and neurotypical controls. Both facial and speech metrics performed well above chance in group classification accuracy. CONCLUSION: Speech acoustic and facial metrics associated with affect production were effective in distinguishing between children with ASD and neurotypical controls. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.28027796.

Lien vers le texte intégral (Open Access ou abonnement)

17. Lee JC, Chen CM, Sun CK, Tsai IT, Cheng YS, Chiu HJ, Wang MY, Tang YH, Hung KC. The therapeutic effects of probiotics on core and associated behavioral symptoms of autism spectrum disorders: a systematic review and meta-analysis. Child Adolesc Psychiatry Ment Health. 2024; 18(1): 161.

BACKGROUND: We aimed at investigating the efficacies of probiotics in alleviating the core and associated symptoms of autism spectrum disorder (ASD). METHODS: Randomized placebo-controlled trials were identified from major electronic databases from inception to Nov 2023. The outcomes of interests including improvements in the total and associated symptoms of ASD were quantitatively expressed as effect size (ES) based on standardized mean difference (SMD) with 95% confidence interval (CI). RESULTS: Ten studies with 522 participants (mean age = 8.11) were included in this meta-analysis. The primary results revealed significant improvement in total symptoms in the probiotics group compared with the controls (SMD = - 0.19, p = 0.03, ten studies, n = 522) but not the core symptoms (i.e., repetitive restricted behaviors, As affiliations 3 and 5 are same, we have deleted the duplicate affiliations and renumbered accordingly. Please check and confirm.problems with social behaviors/communication). Subgroup analyses demonstrated improvement in total symptoms in probiotics users relative to their controls only in studies using multiple-strain probiotics (SMD = - 0.26, p = 0.03, five studies, n = 288) but not studies using single-strain regimens. Secondary results showed improvement in adaptation (SMD = 0.37, p = 0.03, three studies, n = 139) and an improvement trend in anxiety symptoms in the probiotics group compared with controls (SMD = - 0.29, 95% CI - 0.60 to 0.02, p = 0.07, three studies, n = 163) but failed to demonstrate greater improvement in the former regarding symptoms of irritability/aggression, hyperactivity/impulsivity, inattention, and parental stress. CONCLUSIONS: Our study supported probiotics use against the overall behavioral symptoms of ASD, mainly in individuals receiving multiple-strain probiotics as supplements. However, our results showed that probiotics use was only associated with improvement in adaptation and perhaps anxiety, but not core symptoms, highlighting the impact of adaptation on quality of life rather than just the core symptoms. Nevertheless, the limited number of included trials warrants further large-scale clinical investigations.

Lien vers le texte intégral (Open Access ou abonnement)

18. Leibowitz R, Lewis S, Delatycki M, Massie J, Emery J, Archibald A. Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners. Aust J Gen Pract. 2024; 53(12 Suppl): S78-s84.

BACKGROUND AND OBJECTIVES: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening. This study investigates the facilitators and barriers to offering RGCS in general practice. METHOD: Fifteen Victorian GPs who had offered RGCS for CF, SMA and FXS participated in semi-structured telephone interviews. A behavioural change framework was used for this study. RESULTS: Barriers to offering screening (eg out-of-pocket costs, low frequency of preconception care and lack of GP education) mapped predominantly onto the ‘opportunity’ domain of the behaviour change framework. DISCUSSION: Reducing out-of-pocket costs and increasing the provision of preconception care and GP education will provide more people with the opportunity to make informed choices about participation in RGCS.

Lien vers le texte intégral (Open Access ou abonnement)

19. Li F, Li Q, Shen Q, Zhang X, Leng H, Liu Y, Zheng X. The Support Needs of Parents of Children With Autism Spectrum Disorder: A Qualitative Study Based on the Nurturing Care Framework. J Adv Nurs. 2024.

AIM: To explore the support needs of parents of children with autism spectrum disorder (ASD) in China under the guidance of the nurturing care framework (NCF). DESIGN: A descriptive qualitative study design was used. METHODS: Fourteen parents of 2-6-year-old children with autism were recruited for face-to-face individual interviews in Chongqing between July and November 2023. NVivo 12.0 software was used to manage the data, and a directed content analysis was performed to extract themes. RESULTS: Five nurturing care needs of parents of children with autism were extracted, including acquisition of health- and disorder-related knowledge and information, maintenance of psychological and physical wellbeing, desire for individualised caregiver skills training, creation of multi-agent social support network, and accessibility of high-quality and coordinated services. CONCLUSION: Parents of children with autism have multidimensional unmet nurturing care needs. It is crucial to address these needs and develop targeted family support programs with consideration of the extracted need components. IMPLICATIONS FOR PROFESSION AND/OR PATIENT CARE: This study implies that health education, parental empowerment and psychological support should be prioritised in future family support programs. The findings also emphasise the importance of establishing a cross-departmental coordination mechanism and building a multi-agent social support network for families of children with autism. IMPACT: This study expands our understanding on the support needs of families of children with autism and enriches the theoretical connotation of nurturing care framework, and the results may inform the development of tailored support programs for families of children with autism in China. REPORTING METHOD: The results are reported in accordance with the reporting guidelines of the Consolidated Criteria for Reporting Qualitative Studies (COREQ). PATIENT OR PUBLIC CONTRIBUTION: No patient and public contribution.

Lien vers le texte intégral (Open Access ou abonnement)

20. Liu J, Chezan LC, Zhao Y, Hood SK, Drasgow E, Wang H. Utilizing network analysis to identify core items of quality of life for children with autism spectrum disorder. Autism Res. 2024.

The purpose of this study was to develop and validate an ultra-short scale called the Quality of Life for Children with Autism Spectrum Disorder 3 (QOLASD-C3) from the full 16-item QOLASD-C scale. We first used network analysis to identify three core items to be retained on the QOLASD-C3 scale. Second, we used Cronbach’s alpha and Pearson Product Moment correlations to determine the reliability and validity of the scale. Third, an optimal cut-off score of 6 was identified for the using receiver operating characteristic curve analysis. Finally, we used logistic regression to examine the similarities in the classification status based on demographic characteristics between the quality of life (QOL) status using the QOLASD-C and the QOLASD-C3 scales. Results were similar across the two versions and suggested variations in QOL status based on race/ethnicity, autism spectrum disorder (ASD) severity, and parents’ socio-economic status. Implications for research and practice are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

21. Lu JH, Wei H, Zhang Y, Fei F, Huang HY, Dong QJ, Chen J, Ao DQ, Chen L, Li TY, Li Y, Dai Y. Effects of remote support courses on parental mental health and child development in autism: A randomized controlled trial. World J Psychiatry. 2024; 14(12): 1892-904.

BACKGROUND: Sustaining the mental health of autistic children’s parents can be demanding. AIM: To determine the effect of remote support courses on the mental health of parents and the development of autistic children. METHODS: Parents of 140 autistic children were randomly assigned to two groups receiving a 2-week intervention: The control group received caregiver-mediated intervention (CMI); the experimental group received CMI with remote family psychological support courses (R-FPSC). The Parenting Stress Index-Short Form, Parenting Sense of Competence Scale, Generalized Anxiety Disorder-7, and Patient Health Questionnaire-9 were used to measure parents’ mental health. The Childhood Autism Rating Scale and Gesell Developmental Schedules were used to evaluate children’s development. RESULTS: Improved parenting stress, sense of competence, depression, and anxiety were found in both groups, but improvements in parenting stress (81.10 ± 19.76 vs 92.10 ± 19.26, P < 0.01) and sense of competence (68.83 ± 11.23 vs 63.91 ± 10.86, P < 0.01) were greater in the experimental group, although the experimental group showed no significant reduction in depression or anxiety. Children's development did not differ significantly between the groups at follow-up; however, experimental group parents exhibited a short-term increase in training enthusiasm (12.78 ± 3.16 vs 11.57 ± 3.15, P < 0.05). CONCLUSION: Integrating R-FPSC with CMI may be effective in reducing parenting stress, enhancing parents' sense of competence, and increasing parents' training enthusiasm.

Lien vers le texte intégral (Open Access ou abonnement)

22. Lundgren P, Olsson HBK, Pivodic A, Jacobson L, Vallin L, Smith LE, Sävman K, Hellström A. Increased risk of autism in extremely preterm children with a history of retinopathy of prematurity. Acta Paediatr. 2024.

AIM: To investigate the association between retinopathy of prematurity and autism spectrum disorder in extremely preterm children. METHODS: Data in children born extremely preterm at <28 weeks' gestational age in the Region Västra Götaland, 2013-2017, were analysed for association between retinopathy of prematurity and neurodevelopmental disorders. We focussed on autism spectrum disorder and excluded children with perinatal brain injuries or genetic disorders. RESULTS: Of 266 children with neurodevelopmental evaluation, 143 had no documented brain injury or genetic disorders. Of these 143, autism spectrum disorder was diagnosed in 18%, attention deficit hyperactivity disorder in 15% and intellectual disability in 7%. Of the 72/143 children with a history of no or mild retinopathy of prematurity (stage <1), 10% were diagnosed with autism spectrum disorder compared to 27% of 71/143 with prior moderate-to-severe retinopathy of prematurity (stages ≥2), (p = 0.008). A history of retinopathy of prematurity stages ≥2 was associated with a threefold increased likelihood of later autism spectrum disorder even when adjusting for gestational age and sex (p = 0.011). CONCLUSION: Moderate-to-severe retinopathy of prematurity associated with a higher likelihood of later autism spectrum disorder diagnosis in extremely preterm children without documented brain injuries or genetic disorders.

Lien vers le texte intégral (Open Access ou abonnement)

23. Međaković J, Čivljak A, Zorčec T, Vučić V, Ristić-Medić D, Veselinović A, Čivljak M, Puljak L. Pain, dietary habits and physical activity of children with developmental disabilities in Croatia, North Macedonia and Serbia: a cross-sectional study. BMC Pediatr. 2024; 24(1): 819.

BACKGROUND: Multiple studies have shown that children with developmental disabilities (CDD) often live with unrecognized and untreated pain, consume inadequate diet and have inadequate levels of physical activity. This study aimed to analyze pain, dietary habits and physical activity of CDD in Croatia, North Macedonia and Serbia. METHODS: A cross-sectional study was conducted in Croatia, North Macedonia and Serbia in March-April 2023 within the Erasmus+ SynergyEd project. The study included parents and caregivers of CDD. Data were collected via online survey. RESULTS: We included 954 participants from Croatia (N=543; 57%), North Macedonia (N=205; 21%) and Serbia (N=206; 22%). Participants reported that 16% of children suffered from chronic pain related to their condition. The main findings of our study are that chronic pain is prevalent in CDD (16%). Almost half (48%) of participants avoid certain foods for their children. The majority of children (86%) were not on a special diet. Among those that were on a special diet, they were most commonly (60%) on a gluten-free diet. Most (54%) participants stated that their children used nutritional supplements. Less than half participants (45%) stated that the child is involved in some kind of physical activity. Only 17% of CDD engaged in physical activities 5 h or more per week. CONCLUSION: Our findings indicate that chronic pain, inadequate dietary patterns and insufficient physical activity are common in CDD from Croatia, Macedonia and Serbia. Education of parents and caregivers can mitigate their use of interventions that have not been proven effective, such as for example the use of gluten-free diets in CDD.

Lien vers le texte intégral (Open Access ou abonnement)

24. Nuwer R. Can psychedelics improve well-being in autism?. Science. 2024; 386(6728): 1333.

A brace of new studies probes benefits and risks for an understudied group.

Lien vers le texte intégral (Open Access ou abonnement)

25. Qiao D, Mu C, Chen H, Wen D, Wang Z, Zhang B, Guo F, Wang C, Zhang R, Wang C, Cui H, Li S. Implications of prenatal exposure to hyperandrogen for hippocampal neurodevelopment and autism-like behavior in offspring. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 136: 111219.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder that significantly jeopardizes the physical and mental well-being of children. Autism spectrum disorder results from a combination of environmental and genetic factors. Hyperandrogenic exposure during pregnancy increases their risk of developing autism. Nevertheless, the prenatal exposure to androgens affects offspring neurodevelopment and the underlying mechanisms have not been fully elucidated. In the present study, administration of excessive dihydrotestosterone (DHT) to pregnant mice was found to impair neuronal development and dendritic spine formation in offspring, inducing autism-like behaviors. Furthermore, through mRNA transcriptome sequencing technology, the key molecule Nr4a2 was identified during this process of change. Overexpression of Nr4a2 and treatment with amodiaquine (AQ) significantly improved the abnormal phenotypes in offspring caused by prenatal exposure to androgens. Overall, Nr4a2 emerges as a crucial molecule involved in the impairment of offspring neurodevelopment due to prenatal androgen exposure, which provides a new perspective for the in-depth study of the influencing factors and underlying mechanisms.

Lien vers le texte intégral (Open Access ou abonnement)

26. Salenius K, Väljä N, Thusberg S, Iris F, Ladd-Acosta C, Roos C, Nykter M, Fasano A, Autio R, Lin J. Exploring autism spectrum disorder and co-occurring trait associations to elucidate multivariate genetic mechanisms and insights. BMC Psychiatry. 2024; 24(1): 934.

BACKGROUND: Autism spectrum disorder (ASD) is a partially heritable neurodevelopmental trait, and people with ASD may also have other co-occurring trait such as ADHD, anxiety disorders, depression, mental health issues, learning difficulty, physical health traits and communication challenges. The concomitant development of ASD and other neurological traits is assumed to result from a complex interplay between genetics and the environment. However, only a limited number of studies have performed multivariate genome-wide association studies (GWAS) for ASD. METHODS: We conducted to-date the largest multivariate GWAS on ASD and 8 ASD co-occurring traits (ADHD, ADHD childhood, anxiety stress (ASDR), bipolar (BIP), disruptive behaviour (DBD), educational attainment (EA), major depression, and schizophrenia (SCZ)) using summary statistics from leading studies. Multivariate associations and central traits were further identified. Subsequently, colocalization and Mendelian randomization (MR) analysis were performed on the associations identified with the central traits containing ASD. To further validate our findings, pathway and quantified trait loci (QTL) resources as well as independent datasets consisting of 112 (45 probands) whole genome sequence data from the GEMMA project were utilized. RESULTS: Multivariate GWAS resulted in 637 significant associations (p < 5e-8), among which 322 are reported for the first time for any trait. 37 SNPs were identified to contain ASD and one or more traits in their central trait set, including variants mapped to known SFARI ASD genes MAPT, CADPS and NEGR1 as well as novel ASD genes KANSL1, NSF and NTM, associated with immune response, synaptic transmission, and neurite growth respectively. Mendelian randomization analyses found that genetic liability for ADHD childhood, ASRD and DBT has causal effects on the risk of ASD while genetic liability for ASD has causal effects on the risk of ADHD, ADHD childhood, BIP, WA, MDD and SCZ. Frequency differences of SNPs found in NTM and CADPS genes, respectively associated with neurite growth and neural/endocrine calcium regulation, were found between GEMMA ASD probands and controls. Pathway, QTL and cell type enrichment implicated microbiome, enteric inflammation, and central nervous system enrichments. CONCLUSIONS: Our study, combining multivariate GWAS with systematic decomposition, identified novel genetic associations related to ASD and ASD co-occurring driver traits. Statistical tests were applied to discern evidence for shared and interpretable liability between ASD and co-occurring traits. These findings expand upon the current understanding of the complex genetics regulating ASD and reveal insights of neuronal brain disruptions potentially driving development and manifestation.

Lien vers le texte intégral (Open Access ou abonnement)

27. Sarovic D, Schneiderman J, Lundström S, Riaz B, Orekhova E, Khan S, Gillberg C. Differential late-stage face processing in autism: a magnetoencephalographic study of fusiform gyrus activation. BMC Psychiatry. 2024; 24(1): 900.

BACKGROUND: Autism is associated with alterations of social communication, such as during face-to-face interactions. This study aimed to probe face processing in autistics with normal IQ utilizing magnetoencephalography to examine event-related fields within the fusiform gyrus during face perception. METHODS: A case-control cohort of 22 individuals diagnosed with autism and 20 age-matched controls (all male, age 29.3 ± 6.9 years) underwent magnetoencephalographic scanning during an active task while observing neutral faces, face-like pareidolic objects, and non-face objects. The fusiform face area was identified using a face localizer for each participant, and the cortical activation pattern was normalized onto an average brain for subsequent analysis. RESULTS: Early post-stimulus activation amplitudes (before 100-200 ms) indicated differentiation between stimuli containing fundamental facial features and non-face objects in both groups. In contrast, later activation (400-550 ms) differentiated real faces from both pareidolic and non-face objects across both groups and faces from objects in controls but not in autistics. There was no effect of autistic-like traits. CONCLUSIONS: The absence of group differences in early activation suggest intact face detection in autistics possessing a normal IQ. Later activation captures a greater degree of the complexity and social information from actual faces. Although both groups distinguished faces from pareidolic and non-face objects, the control group exhibited a slightly heightened differentiation at this latency, indicating a potential disadvantage for autistics in real face processing. The subtle difference in late-stage face processing observed in autistic individuals may reflect specific cognitive mechanisms related to face perception in autism.

Lien vers le texte intégral (Open Access ou abonnement)

28. Scheerer NE, Ng CSM, Gurba AN, McNair ML, Lerner MD, Hargreaves A. Editorial: Break the stigma: autism. Front Psychiatry. 2024; 15: 1513447.

Lien vers le texte intégral (Open Access ou abonnement)

29. Schiff LD, Hester AOD, Benevides T. Providing Effective Medical Care to Autistic People. N Engl J Med. 2024; 391(24): 2281-3.

Lien vers le texte intégral (Open Access ou abonnement)

30. Shata N, Ali J, N AL, MacNay R. Torticollis as an early manifestation of basilar invagination in a paediatric patient. BMJ Case Rep. 2024; 17(12).

This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a FRA10AC1 variant that did not fully explain the patient’s phenotype. Investigations were delayed due to the coronavirus disease 2019 pandemic and other factors related to the patient. Eventually, MRI revealed basilar invagination with cord compression and cord oedema at the C1-C2 junction. Treatment included foramen magnum decompression and management of symptoms using a multidisciplinary approach. Treatment resulted in a remarkable recovery. The patient regained some motor abilities and reached the 50th weight percentile.

Lien vers le texte intégral (Open Access ou abonnement)

31. Smith E, Dominick KC, Schmitt LM, Pedapati EV, Erickson CA. Specialization of the brain for language in children with Fragile X Syndrome: a functional Near Infrared Spectroscopy study. J Neurodev Disord. 2024; 16(1): 69.

Specialization of the brain for language is early emerging and essential for language learning in young children. Fragile X Syndrome (FXS) is a neurogenetic disorder marked by high rates of delays in both expressive and receptive language, but neural activation patterns during speech and language processing are unknown. We report results of a functional Near Infrared Spectroscopy (fNIRS) study of responses to speech and nonspeech sounds in the auditory cortex in a sample of 2- to 10-year-old children with FXS and typically developing controls (FXS n = 23, TDC n = 15, mean age = 6.44 and 7.07 years, respectively). Specifically, we measured changes in oxygenated and deoxygenated hemoglobin in the auditory cortex during blocks of speech and nonspeech matched noise in children with FXS and sex-and-age-matched controls. Similar to controls, children with FXS showed hemodynamic change consistent with neural activation of the primary auditory regions for speech as well as leftward lateralization for speech sound processing, strength of which was associated with higher verbal abilities in FXS. However, while controls showed neural differentiation of speech and nonspeech in the left auditory cortex, children with FXS did not demonstrate differentiation of the two conditions in this study. In addition, the children with FXS showed a greater neural activation to the nonspeech condition overall. Overall, these results suggest that basic patterns of neural activation for speech are present in FXS in childhood, but neural response to nonspeech sounds may differ in FXS when compared to controls.

Lien vers le texte intégral (Open Access ou abonnement)

32. Wang L, Ding S, Qin W, Zhang Y, Qin B, Huang K, Zheng H, Cai J. Alterations in the white matter fiber tracts of preschool-aged children with autism spectrum disorder: an automated fiber quantification study. Quant Imaging Med Surg. 2024; 14(12): 9347-60.

BACKGROUND: Little is known about the precise impaired patterns of white matter (WM) fiber tracts in preschool-aged children with autism spectrum disorder (ASD). Thus, we used diffusion tensor imaging (DTI)-based automated fiber quantification (AFQ) to explore the changes in WM fiber tracts in preschool-aged children with ASD and its correlation with the severity of clinical manifestations. METHODS: A total of 43 pediatric ASD and 42 age- and sex-matched typical developing children were examined with DTI. AFQ was used to quantify 100 nodes of 16 specific WM fiber tracts. The DTI metrics, including fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), and axial diffusivity (AD), were compared between the two groups. Correlation analysis was performed to evaluate whether abnormal DTI metrics correlated with the Childhood Autism Rating Scale. RESULTS: Compared with typical developing children, at the entire level, the ASD group exhibited a decreased FA [P=0.04 after false discovery rate (FDR) correction] and an increased MD (P=0.048 after FDR correction), and RD (P=0.024 after FDR correction) in the left inferior longitudinal fasciculus (ILF). A decreased FA (P=0.02 after FDR correction) and an increased RD (P=0.024 after FDR correction) were shown in forceps minor. An increased MD (P=0.016 after FDR correction) and RD (P=0.026 after FDR correction) were shown in the left inferior frontal-occipital fasciculus (IFOF). At the point-wise level, significantly decreased FA, and increased MD and RD were observed in the anterior part of forceps minor, left IFOF, and posterior part of left ILF in the ASD group (all P<0.05 after FDR correction). Furthermore, there was a negative correlation between FA of the posterior part of left ILF and the Childhood Autism Rating Scale within the ASD group (r=-0.475, P<0.001). CONCLUSIONS: Preschool-aged children with ASD displayed a site-specific propensity for WM fiber tract impairment, mainly in the left cerebral hemisphere. The decreased integrity for the posterior part of the left ILF may reflect the severity of autistic symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

33. Wang Y, Zhu Z, Wang Y, Li M, Ma X, Huang K, Gao H, Zhang Y, Chen Q, Zhang W, Ke X. Relationship between autism spectrum disorder and peripapillary intraretinal layer thickness: a pediatric retrospective cross-sectional study. Quant Imaging Med Surg. 2024; 14(12): 8347-60.

BACKGROUND: Autism spectrum disorder (ASD) often presents with atypical visual processing, prompting investigation into its connection with retinal features. This study aimed to (I) compare intraretinal layer thickness in the peripapillary region between ASD and neurotypical (NT) groups, (II) assess associations between intraretinal layer thickness and clinical parameters (social functioning and cognitive levels) in ASD subjects, and (III) evaluate the potential of intraretinal layer thickness as a biomarker for ASD. METHODS: Participants were recruited through convenience sampling from the Children’s Mental Health Research Center at The Affiliated Brain Hospital of Nanjing Medical University and the Department of Ophthalmology at The First Affiliated Hospital of Nanjing Medical University, Nanjing, China, between December 2019 and August 2023. Intraretinal layer thickness in peripapillary region was quantified using optic coherence tomography images with automated layer segmentation performed by OCTExplorer software on 47 individuals with ASD (aged 7-13 years) and age- and sex-matched NT controls. Inter-group comparisons were conducted using unpaired t-tests, Welch’s t-tests, or Mann-Whitney U tests as appropriate. Correlations with social functioning (measured by Social Responsiveness Scale scores) and cognitive levels [measured by total intelligence quotient (IQ) scores] were examined using the Spearman correlation coefficient. Stepwise regression analysis was conducted to assess predictive power. RESULTS: Significant inter-group differences (P<0.05) were observed in ganglion cell layer and inner nuclear layer (INL) thickness across global and specific quadrant regions. Participants had a mean age of 9.57±1.83 years in the ASD group and 9.89±1.70 years in the age-matched NT group. While no correlation was found between retinal sublayer thickness and social functioning on ASD subjects (all P>0.05), there was a notable correlation between INL thickness in the infero-nasal quadrant and cognitive level (r=0.381, P=0.014). Stepwise regression analysis identified global INL thickness as a significant predictor of total IQ scores (β=3.986, P=0.034), with an R(2) of 0.110 and a root mean square error of 21.900. CONCLUSIONS: This study highlights significant differences in retinal features between ASD and NT groups, with implications for understanding ASD pathogenesis and complexity. The findings suggest that easily observable retinal features hold promise as biomarkers for ASD, warranting further investigation.

Lien vers le texte intégral (Open Access ou abonnement)

34. Xiao Y, Xiang W, Ma X, Zheng A, Rong D, Zhang N, Yang N, Bayram H, Lorimer GH, Wang J. Research Progress on the Correlation Between Atmospheric Particulate Matter and Autism. J Appl Toxicol. 2024.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder caused by the interaction of genetic and complex environmental factors. The prevalence of autism has dramatically increased in countries and regions undergoing rapid industrialization and urbanization. Recent studies have shown that particulate matter (PM) in air pollution affects the development of neurons and disrupts the function of the nervous system, leading to behavioral and cognitive problems and increasing the risk of ASD. However, research on the mechanism of environmental factors and ASD is still in its infancy. On this basis, we conducted a literature search and analysis to review epidemiological studies on the correlation between fine particulate matter (PM(2.5)) and inhalable particulate matter (PM(10)) and ASD. The signaling pathways and pathogenic mechanisms of PM in synaptic injury and neuroinflammation are presented, and the mechanism of the ASD candidate gene SHANK3 was reviewed. Additionally, the different sites of action of different particles in animal models and humans were highlighted, and the differences of their effects on the pathogenesis of ASD were explained. We summarized the aetiology and mechanisms of PM-induced autism and look forward to future research breakthroughs in improved assessment methods, multidisciplinary alliances and high-tech innovations.

Lien vers le texte intégral (Open Access ou abonnement)

35. Zhang H, Chen S, Yu J, Niu X, Wang X, Wang L. Association between adherence to behavioral intervention and capability well-being among parents of autistic children: a cross-sectional study from China. BMC Psychiatry. 2024; 24(1): 922.

BACKGROUND: High adherence to behavioral interventions among parents of autistic children contribute to improvement in children’s behaviors and parental outcomes. However, most of previous studies focused on the effects of intervention adherence on health-related well-being among parents, which is inadequate to capture the multi-dimensional parental burden of caring for autistic children. The aim of this study is to assess the association between parents’ adherence to behavioral intervention and their capability well-being. METHODS: A cross-sectional study was conducted among caregivers of autistic children aged 1-17 years with a confirmed diagnosis in China. A total of 213 parents of autistic children who were currently receiving behavioral intervention were considered in this study. Parental adherence to behavioral intervention was evaluated by the 5-item General Adherence subscale of the Medical Outcome Study. Capability well-being was assessed using the Investigating Choice Experiments Capability Measures for Adults (ICECAP-A), including the domains of stability, attachment, autonomy, achievement, and enjoyment. The index scores for each domain were computed based on the preference-based value set in the United Kingdom, ranging from 0 to 1. Multivariate linear regression analyses were conducted to assess the relationship between intervention adherence and parental well-being. Intervention adherence as well as the variables with p < 0.1 in the univariate analyses were included in multivariate linear regression analyses. RESULTS: The mean overall score of ICECAP-A was 0.681 (0.205). In the univariate analyses, intervention adherence was positively associated with stability, autonomy, achievement, and enjoyment (p < 0.05), while the relationship between intervention adherence and attachment was not significant (p = 0.07). After controlling for the confounders in the multivariate linear regression analyses, intervention adherence was positively associated with achievement (β = 0.0004) and enjoyment (β = 0.0004). CONCLUSIONS: The overall capability well-being among parents of autistic children was worse than that of the general population and caregivers of adult patients with chronic diseases. Adherence to behavioral interventions was positively associated with parental well-being in terms of achievement and enjoyment. Health professionals should involve parents in behavioral interventions and encourage them to implement therapeutic strategies on a routine basis. Customized interventions are warranted to improve capability well-being targeting at vulnerable groups.

Lien vers le texte intégral (Open Access ou abonnement)