1. Alrajhi R, Dimitriou D. Examining maternal unmet needs and perception about autism-related services in Saudi Arabia. Res Dev Disabil;2023 (Jul 24);140:104561.

BACKGROUND: This study aimed to explore maternal experiences about autism services in Saudi Arabia. The main focus of the study was to gather maternal perceptions and needs about current services used for their autistic children in Saudi Arabia. The outcomes from this study will be an important source of information for service providers as parental experiences are considered as a reliable source of information about their children. METHOD AND PROCEDURE: Data were gathered from seven focus groups with a total of twenty-nine mothers from different geographical areas in Saudi Arabia. Background data about the mothers and their family’ were also collected and considered within the framework. RESULTS: Three master themes were generated; i) maternal experiences of daily home/school provisions, ii) maternal suggestions to enhance existing services, and iii) maternal suggestions for future services. The findings from study provide with an understanding of Saudi mothers of autistic children’s perception of autism provision services. This study provides data from maternal lived experiences about their needs for services, barriers and their suggestions for better services. It also provides a direction for parental and community support which ought to be initiated in Saudi Arabia to provide better family outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bal VH, Mournet AM, Glascock T, Shinall J, Gunin G, Jadav N, Zhang H, Brennan E, Istvan E, Kleiman EM. The emotional support plan: Feasibility trials of a brief, telehealth-based mobile intervention to support coping for autistic adults. Autism;2023 (Jul 27):13623613231186035.

Autistic adults may have difficulty coping during stressful periods, which could make them more vulnerable to depression and anxiety. We designed the emotional support plan (ESP) to help autistic people find ways to cope in stressful situations. Thirty-six autistic adults created an ESP and answered questions about their opinions of the ESP. Most autistic adults found the ESP to have a positive impact on them and many would recommend the ESP to another person. Feedback from autistic adults suggested ways that we might test the ESP in future studies. Overall, autistic adults in this study found the ESP to be useful and a worthwhile intervention to study more in the future. While more research is clearly needed, we hope that the brief nature of the ESP will make it helpful for autistic people who are trying to handle negative feelings during stressful life events.

Lien vers le texte intégral (Open Access ou abonnement)

3. Bouzroud W, Tazzite A, Boussakri I, Gazzaz B, Dehbi H. A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report. J Int Med Res;2023 (Jul);51(7):3000605231187931.

Variants in SCN8A are associated with several diseases, including developmental and epileptic encephalopathy, intermediate epilepsy or mild-to-moderate developmental and epileptic encephalopathy, self-limited familial infantile epilepsy, neurodevelopmental delays with generalized epilepsy, neurodevelopmental disorder without epilepsy, hypotonia, and movement disorders. Herein, we report an 8-year-old Moroccan boy with intermediate epilepsy of unknown origin, intellectual disability, autism spectrum disorder, and hyperactivity. The patient presented a normal 46, XY karyotype and a normal comparative genomic hybridization profile. Whole-exome sequencing was performed, and heterozygous variants were identified in KCNK4 and SCN8A. The SCN8A variant [c.4499C > T (p.Pro1500Leu)] was also detected in the healthy mother and was classified as a variant of uncertain clinical significance. This variant occurs in a highly conserved domain, which may affect the function of the encoded protein. More studies are needed to confirm the pathogenicity of this novel variant to establish the effective care, management, and genetic counselling of affected individuals.

Lien vers le texte intégral (Open Access ou abonnement)

4. Carrera P, Boshoff K, Wiles L, Phillips R, Gibbs D, Porter L. Understanding Parents’ Experiences With Mainstream Schooling for Their Children With Autism Spectrum Disorder: A Meta-Analysis. Am J Occup Ther;2023 (Jul 1);77(4)

IMPORTANCE: Children with autism spectrum disorder (ASD) face school-related occupational challenges. Attending a mainstream school offers benefits for children’s learning and their development of social skills; however, parents express frustration with ensuring their child’s unique needs and preferences are met. OBJECTIVE: To gain insight into parents’ experiences with the mainstream preschool and primary educational system for their children with ASD. DATA SOURCES: Eleven electronic databases were systematically searched, and processes were followed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. STUDY SELECTION AND DATA COLLECTION: Study eligibility was determined through the use of selection criteria and paired independent reviewers. Critical appraisal was conducted using a qualitative research hierarchy and a modified version of the Critical Appraisal Skills Programme tool. Two reviewers synthesized the data into themes, following the Joanna Briggs Institute meta-aggregation process. Twenty-six qualitative studies, representing the voices of 397 parents, are presented in this review (spanning 2013-2021). Articles were set in Westernized and non-Westernized settings and represented culturally and linguistically diverse population groups. FINDINGS: Parents of children with ASD reported a lack of awareness and understanding of their children’s unique learning needs in the mainstream school system at all levels. CONCLUSIONS AND RELEVANCE: This review has various occupational therapy practice implications for supporting school-age children with ASD, their parents, and school staff. These include adopting family-centered and ecological approaches, raising awareness, influencing policy, and facilitating collaboration. What This Article Adds: This review provides guidance for occupational therapists working in schools about their practice in working at the individual, targeted, and whole-school levels to address occupational barriers faced by children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

5. Crane L, Hearst C, Ashworth M, Davies J. Evaluating the online delivery of an autistic-led programme to support newly diagnosed or identified autistic adults. Autism Dev Lang Impair;2023 (Jan-Dec);8:23969415231189608.

BACKGROUND & AIMS: Exploring Being Autistic is an autistic-led group-based programme providing psychoeducation and peer support to newly identified/diagnosed autistic adults. In 2020, due to social distancing measures implemented following the coronavirus pandemic, Exploring Being Autistic was adapted for online delivery. Here, we aimed to replicate previous research into the in-person delivery of Exploring Being Autistic, to determine whether similar results were obtained when the programme was delivered online. Further, we aimed to identify the unique opportunities and challenges that online delivery afforded. METHODS: We used a community-based participatory research (CBPR) approach, whereby the autistic developer and facilitator of Exploring Being Autistic worked collaboratively with a team of academic researchers throughout the research process. Together, we evaluated two iterations of the online Exploring Being Autistic programme, involving 16 attendees. Attendees completed questionnaires before, during and after the programme. Attendees were also invited to participate in two post-programme (group or individual) interviews: one following the completion of the programme (time one) and another 6-8 months later (time two). Attendees were included in the research if they completed at least one questionnaire or interview. Data were analysed qualitatively, using reflexive thematic analysis. RESULTS: Experiences of participating in the programme tended to be positive. Participants appreciated the autistic-led nature of the programme, found unity in the diversity of the group, and developed a positive and practical outlook as a result of the programme. Further analyses of our data revealed mixed views regarding the online delivery of the programme. Opportunities of online delivery were noted, such as this mode of participation reducing cognitive load, enabling the programme to be accessible to more participants, and fostering meaningful social connections among participants. However, technology and practical issues were felt to cause barriers, and some human aspects of participation were felt to be ‘lost in translation’ (e.g., in breakout groups). CONCLUSIONS: The online delivery of the Exploring Being Autistic programme yielded similar results to previous, in-person evaluations of the programme. While we identified positive aspects of online delivery, this mode did not entirely suit everyone’s needs. IMPLICATIONS: From the current findings, we can make several recommendations to develop online support for autistic people. First, flexibility is key. To make support accessible and inclusive to a broad range of autistic people, the option for attendees to engage in-person, online or in hybrid formats should be considered. Second, if delivering support online, the use of breakout rooms should be carefully considered. While participants appreciated the opportunity to meet different people, some participants found the unpredictability and lack of scaffolding associated with breakout rooms challenging. To mitigate these challenges, groups could be pre-determined and shared with the attendees in advance (although consideration should be given to how the groups ‘fit’ together, and whether groupings should be changed at set intervals). Gentle warnings should also be given to those in breakout rooms, to alert them of the need to re-join the main group. Finally, support with technological aspects relating to engagement should be prioritised.

Lien vers le texte intégral (Open Access ou abonnement)

6. Czerwonogrodzka-Senczyna A, Milewska M, Kwiecień P, Szczałuba K. Diet and Nutritional Status of Polish Girls with Rett Syndrome-A Case-Control Study. Nutrients;2023 (Jul 27);15(15)

(1) Background: Rett syndrome may be considered a disease strongly associated with nutritional disorders that are likely to require special management strategies, extending beyond what is usually required for children with other developmental disorders. The aim of the study was to assess the nutritional status and diet of Polish girls with Rett syndrome. (2) Methods: Each patient (study group = 49, control group = 22) underwent anthropometric measurements, including body weight and height, waist, hip and arm circumference, and skinfold measurement. The assessment of the diet was based on the analysis of 7-day menus and the Food Frequency Questionnaire (FFQ-6). Data were analyzed using Statistica 13.3. (3) Results: The majority of the girls with Rett syndrome were deficient in weight and height, and consumed fewer calories, less protein, dietary fiber, calcium, and iron than the control group. They also drank less fluid. Soft products that were easy to chew and considered to be high in energy value were significantly more common in the menus. (4) Conclusions: Girls with Rett syndrome are characterized by weight deficiencies, poor growth that deteriorates with age, and are at risk of food shortages. Various nutritional intervention strategies should be explored to reduce and, if possible, prevent malnutrition and cachexia in such patients.

Lien vers le texte intégral (Open Access ou abonnement)

7. El Yacoubi FA, Oukabli M, Ibrahimi A, Kisra H, Bensaid M. Unraveling the Role of Neuroligin3 in Autism Spectrum Disorders: Pathophysiological Insights and Targeted Therapies. CNS Neurol Disord Drug Targets;2023 (Jul 27)

Autism Spectrum Disorder is a neurodevelopmental disorder characterized by impaired social and communication skills, repetitive behaviors, and/or restricted interests with a prevalence of as high as 1% of children. Autism spectrum has strongly associated with genetic factors and exhibits wide clinical and heterogeneous genetic architecture. Most genes associated with Autism are involved in neuronal and synaptic development. The neuroligin3, the sex-linked gene on the X chromosome, was the first gene to be associated with a monogenic form of Autism. Neuroligin3 is a postsynaptic cell adhesion protein involved in synapse transmission, brain formation, and neuronal development. In this review, we provide recent findings on different mutations in the Neuroligin3 gene linked to Autism spectrum disorder and their molecular pathway effect. We also give the behavioral, and synaptic alterations reported in the Neuroligin3 animal model of Autism and the potential therapeutic strategies targeting the biological processes and the main symptoms of autism spectrum disorder. In addition, we discuss the use of novel technologies like induced pluripotent stem cells from Autistic patients that have the potential to differentiate in human neurons and therefore have a variety of applications in therapy and biomedical studies to search specific biomarkers, and develop systems for screening chemical molecules in human cells to discover target therapies.

Lien vers le texte intégral (Open Access ou abonnement)

8. Goel A, Cantu DA, Guilfoyle J, Chaudhari GR, Newadkar A, Todisco B, de Alba D, Kourdougli N, Schmitt LM, Pedapati E, Erickson CA, Portera-Cailliau C. Author Correction: Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. Nat Neurosci;2023 (Aug);26(8):1472.

Lien vers le texte intégral (Open Access ou abonnement)

9. Grauerholz-Fisher E, Vollmer TR, Fernand JK, Perez BC, Amanieh H, Wunderlich K, Peters KP. A Comparison of Baseline Procedures in Task Analyses. Behav Modif;2023 (Sep);47(5):1144-1169.

Several methods for assessing baseline performance in chained tasks have been outlined in the literature, including the fixed-opportunity probe (FOP) and the multiple-opportunity probe (MOP). Concerns have been raised regarding how each of these methods might change the baseline performance of a task, affecting the interpretation of experimental control. The purpose of the current study was to conduct a within-subject comparison of both the FOP and MOP procedures for children with autism performing daily living and self-care skills. Results indicated that, for most participants, the MOP resulted in elevated performance during baseline compared to the FOP, and that for some participants the MOP resulted in acquisition prior to direct training. Because of the possibility that the FOP might result in suppressed baseline performance, it is recommended that in most cases clinicians and researchers use the MOP when assessing baseline performance in chained tasks in order to obtain the most accurate data.

Lien vers le texte intégral (Open Access ou abonnement)

10. Howard PL, Pagán A. No evidence for high inflexible precision of prediction errors in autism during lexical processing. Autism Res;2023 (Jul 27)

Research has shown that information processing differences associated with autism could impact on language and literacy development. This study tested an approach to autistic cognition that suggests learning occurs via prediction errors, and autistic people have very precise and inflexible predictions that result in more sensitivity to meaningless signal errors than non-autistic readers. We used this theoretical background to investigate whether differences in prediction coding influence how orthographic (Experiment 1) and semantic information (Experiment 2) is processed by autistic readers. Experiment 1 used a lexical decision task to test whether letter position information was processed less flexibly by autistic than non-autistic readers. Three types of letter strings: words, transposed letter and substituted letters nonwords were presented. Experiment 2 used a semantic relatedness task to test whether autistic readers processed words with high and low semantic diversity differently to non-autistic readers. Results showed similar transposed letter and semantic diversity effects for all readers; indicating that orthographic and semantic information are processed similarly by autistic and non-autistic readers; and therefore, differences in prediction coding were not evident for these lexical processing tasks.

Lien vers le texte intégral (Open Access ou abonnement)

11. Huettig F, Voeten CC, Pascual E, Liang J, Hintz F. Do autistic children differ in language-mediated prediction?. Cognition;2023 (Oct);239:105571.

Prediction appears to be an important characteristic of the human mind. It has also been suggested that prediction is a core difference of autistic(1) children. Past research exploring language-mediated anticipatory eye movements in autistic children, however, has been somewhat contradictory, with some studies finding normal anticipatory processing in autistic children with low levels of autistic traits but others observing weaker prediction effects in autistic children with less receptive language skills. Here we investigated language-mediated anticipatory eye movements in young children who differed in the severity of their level of autistic traits and were in professional institutional care in Hangzhou, China. We chose the same spoken sentences (translated into Mandarin Chinese) and visual stimuli as a previous study which observed robust prediction effects in young children (Mani & Huettig, 2012) and included a control group of typically-developing children. Typically developing but not autistic children showed robust prediction effects. Most interestingly, autistic children with lower communication, motor, and (adaptive) behavior scores exhibited both less predictive and non-predictive visual attention behavior. Our results raise the possibility that differences in language-mediated anticipatory eye movements in autistic children with higher levels of autistic traits may be differences in visual attention in disguise, a hypothesis that needs further investigation.

Lien vers le texte intégral (Open Access ou abonnement)

12. Isakoglou C, Haak KV, Wolfers T, Floris DL, Llera A, Oldehinkel M, Forde NJ, Oakley BFM, Tillmann J, Holt RJ, Moessnang C, Loth E, Bourgeron T, Baron-Cohen S, Charman T, Banaschewski T, Murphy DGM, Buitelaar JK, Marquand AF, Beckmann CF. Fine-grained topographic organization within somatosensory cortex during resting-state and emotional face-matching task and its association with ASD traits. Transl Psychiatry;2023 (Jul 27);13(1):270.

Sensory atypicalities are particularly common in autism spectrum disorders (ASD). Nevertheless, our knowledge about the divergent functioning of the underlying somatosensory region and its association with ASD phenotype features is limited. We applied a data-driven approach to map the fine-grained variations in functional connectivity of the primary somatosensory cortex (S1) to the rest of the brain in 240 autistic and 164 neurotypical individuals from the EU-AIMS LEAP dataset, aged between 7 and 30. We estimated the S1 connection topography (‘connectopy’) at rest and during the emotional face-matching (Hariri) task, an established measure of emotion reactivity, and accessed its association with a set of clinical and behavioral variables. We first demonstrated that the S1 connectopy is organized along a dorsoventral axis, mapping onto the S1 somatotopic organization. We then found that its spatial characteristics were linked to the individuals’ adaptive functioning skills, as measured by the Vineland Adaptive Behavior Scales, across the whole sample. Higher functional differentiation characterized the S1 connectopies of individuals with higher daily life adaptive skills. Notably, we detected significant differences between rest and the Hariri task in the S1 connectopies, as well as their projection maps onto the rest of the brain suggesting a task-modulating effect on S1 due to emotion processing. All in all, variation of adaptive skills appears to be reflected in the brain’s mesoscale neural circuitry, as shown by the S1 connectivity profile, which is also differentially modulated during rest and emotional processing.

Lien vers le texte intégral (Open Access ou abonnement)

13. Kurtz-Nelson EC, Rea HM, Petriceks AC, Hudac CM, Wang T, Earl RK, Bernier RA, Eichler EE, Neuhaus E. Characterizing the autism spectrum phenotype in DYRK1A-related syndrome. Autism Res;2023 (Aug);16(8):1488-1500.

Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n = 29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n = 14) or average or above nonverbal IQ (n = 41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians’ behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits.

Lien vers le texte intégral (Open Access ou abonnement)

14. Longo F, Aryal S, Anastasiades PG, Maltese M, Baimel C, Albanese F, Tabor J, Zhu JD, Oliveira MM, Gastaldo D, Bagni C, Santini E, Tritsch NX, Carter AG, Klann E. Cell-type-specific disruption of cortico-striatal circuitry drives repetitive patterns of behavior in fragile X syndrome model mice. Cell Rep;2023 (Jul 27);42(8):112901.

Individuals with fragile X syndrome (FXS) are frequently diagnosed with autism spectrum disorder (ASD), including increased risk for restricted and repetitive behaviors (RRBs). Consistent with observations in humans, FXS model mice display distinct RRBs and hyperactivity that are consistent with dysfunctional cortico-striatal circuits, an area relatively unexplored in FXS. Using a multidisciplinary approach, we dissect the contribution of two populations of striatal medium spiny neurons (SPNs) in the expression of RRBs in FXS model mice. Here, we report that dysregulated protein synthesis at cortico-striatal synapses is a molecular culprit of the synaptic and ASD-associated motor phenotypes displayed by FXS model mice. Cell-type-specific translational profiling of the FXS mouse striatum reveals differentially translated mRNAs, providing critical information concerning potential therapeutic targets. Our findings uncover a cell-type-specific impact of the loss of fragile X messenger ribonucleoprotein (FMRP) on translation and the sequence of neuronal events in the striatum that drive RRBs in FXS.

Lien vers le texte intégral (Open Access ou abonnement)

15. Magaña S, Eliasziw M, Bowling A, Must A. Racial and ethnic disparities in obesity and contributions of social determinants of health among boys with autism spectrum disorder. Front Pediatr;2023;11:1198073.

Children with autism spectrum disorders (ASD) are at greater obesity risk compared to typically developing peers. Although many potential risk factors for this relationship have been identified, the causal chain must be better understood, particularly modifiable social determinants of obesity risk in ASD, and especially for children with ASD from minoritized racial/ethnic groups. We aimed to: (1) examine racial/ethnic disparities in obesity status in boys with ASD; (2) assess associations between social determinants of health and obesity status; and (3) understand if social determinants of health factors mediate the relationship between race/ethnicity and obesity status for these youth. We used data for 124 boys, aged 9-10 with ASD enrolled in an ongoing longitudinal study. Social determinants of health explored included socioeconomic position, Area Deprivation Index, neighborhood safety, food and housing insecurity, and racial/ethnic discrimination. The racial/ethnic distribution was: 17.1% Black, 14.6% Latino, and 68.3% White; average age was 10 years. Both Black (PR 2.57, 95% CI: 1.26-5.26) and Latino boys (PR 2.08, 95% CI: 1.08-4.03) with ASD were more likely to be obese than their White peers. While there were significant differences in some social determinants of health by race/ethnicity, only food insecurity mediated associations between race/ethnicity (Black vs. White) and obesity. The striking disparities in obesity and differences in social determinants of health between Black and Latino children with ASD compared to White children emphasize the need to identify factors that contribute to healthy weight among these children and to address these factors in practice.

Lien vers le texte intégral (Open Access ou abonnement)

16. Magaña S, Errisuriz VL, Yu AP, Heydaria N, Zeng W, Mirza M, Vanegas S, Brown S, Parra-Medina D, Suarez-Balcazar Y. Associations between parenting strategies and BMI percentile among Latino children and youth with intellectual and developmental disabilities. Front Pediatr;2023;11:1189686.

INTRODUCTION: Maintaining healthy weight is a challenge for all children, and particularly for children with IDD compared to nondisabled children and for Latino children compared to non-Latino White children. Parenting practices related to food intake and physical activity have been found to be important in maintaining children’s weight. In this study, we describe the prevalence of overweight and obesity status among Latino children with IDD and their maternal caregivers and determine the relationship between food and physical activity parenting practices and childhood obesity among Latino children with IDD. METHODS: We interviewed 94 Latino parent/child dyads and collected information about parenting practices, home environment, and parent and child height and weight using standardized measures. Parent body mass index (BMI) and child BMI percentile were calculated from height and weight. RESULTS: The combined overweight/obesity status for children in our sample was high (60.3%) compared to national rates among nondisabled Latino children (56%) and non-Latino White children with autism (37%). Contrary to research on nondisabled children, we found that greater parental use of controlling dietary strategies was associated with lower BMI percentile in Latino children with IDD. These findings may be indicative of the fact that children with IDD tend to have unique dietary behaviors that warrant more disability and culturally sensitive strategies. DISCUSSION: Our findings suggest that overweight and obesity is especially prevalent for Latino children with IDD and that more research is needed on family factors that promote health in Latino families of children with IDD.

Lien vers le texte intégral (Open Access ou abonnement)

17. Oates M, Bean A. Qualitative Analysis of the Experiences and Perspectives of Autistic Speech-Language Pathologists. Am J Speech Lang Pathol;2023 (Jul 26):1-14.

PURPOSE: Supporting autistic speech-language pathologists (SLPs) is critical to expanding diversity within the field of speech-language pathology. The purpose of this study is to better understand how autistic SLPs reconcile tensions between their personal and professional experiences and negotiate the intersection of these identities. METHOD: Five certified SLPs, each of whom had a formal autism diagnosis or self-identified as autistic, engaged in a one-on-one semistructured conversation. The recorded interviews were transcribed manually. Following grounded theory analysis, multiple levels of coding were performed to construct a theoretical interpretation of the data. RESULTS: Four themes arose from the analysis. In the first, participants described their outlooks on their autistic identities and how these have changed over time. The second theme concerns interpersonal tensions and conflicts related to communication differences across neurotypes. In the third, participants reflected on the stigma and ableism they face in their careers, and concerns about disclosing their autistic identity in the workplace. The fourth comprised participants’ neurodiversity-affirming approaches to clinical practice with autistic clients. CONCLUSIONS: This study represents a first step toward understanding the unique strengths of autistic SLPs and the challenges they face. They can be better supported throughout their education, training, and careers. Our field must embrace and promote the neurodiversity paradigm to truly support all our colleagues and clients.

Lien vers le texte intégral (Open Access ou abonnement)

18. Perna J, Bellato A, Ganapathy PS, Solmi M, Zampieri A, Faraone SV, Cortese S. Association between Autism Spectrum Disorder (ASD) and vision problems. A systematic review and meta-analysis. Mol Psychiatry;2023 (Jul 26)

AIM: To conduct a systematic review and meta-analysis assessing whether vision and/or eye disorders are associated with Autism Spectrum Disorder (ASD). METHOD: Based on a pre-registered protocol (PROSPERO: CRD42022328485), we searched PubMed, Web of Knowledge/Science, Ovid Medline, Embase and APA PsycINFO up to 5(th) February 2022, with no language/type of document restrictions. We included observational studies 1) reporting at least one measure of vision in people of any age with a diagnosis of ASD based on DSM or ICD criteria, or ADOS; or 2) reporting the prevalence of ASD in people with and without vision disorders. Study quality was assessed with the Appraisal tool for Cross-Sectional Studies (AXIS). Random-effects meta-analyses were used for data synthesis. RESULTS: We included 49 studies in the narrative synthesis and 46 studies in the meta-analyses (15,629,159 individuals distributed across multiple different measures). We found meta-analytic evidence of increased prevalence of strabismus (OR = 4.72 [95% CI: 4.60, 4.85]) in people with versus those without ASD (non-significant heterogeneity: Q = 1.0545, p = 0.7881). We also found evidence of increased accommodation deficits (Hedge’s g = 0.68 [CI: 0.28, 1.08]) (non-significant heterogeneity: Q = 6.9331, p = 0.0741), reduced peripheral vision (-0.82 [CI: -1.32, -0.33]) (non-significant heterogeneity: Q = 4.8075, p = 0.4398), reduced stereoacuity (0.73 [CI: -1.14, -0.31]) (non-significant heterogeneity: Q = 0.8974, p = 0.3435), increased color discrimination difficulties (0.69 [CI: 0.27,1.10]) (non-significant heterogeneity: Q = 9.9928, p = 0.1890), reduced contrast sensitivity (0.45 [CI: -0.60, -0.30]) (non-significant heterogeneity: Q = 9.9928, p = 0.1890) and increased retinal thickness (=0.29 [CI: 0.07, 0.51]) (non-significant heterogeneity: Q = 0.8113, p = 0.9918) in ASD. DISCUSSION: ASD is associated with some self-reported and objectively measured functional vision problems, and structural alterations of the eye, even though we observed several methodological limitations in the individual studies included in our meta-analyses. Further research should clarify the causal relationship, if any, between ASD and problems of vision during early life. PROSPERO REGISTRATION: CRD42022328485.

Lien vers le texte intégral (Open Access ou abonnement)

19. Peterle L, Sanfilippo S, Tonacci A, Li Pomi F, Borgia F, Gangemi S. Common pathogenetic traits of atopic dermatitis and autism spectrum disorders, potential connections and treatments: trivial Th2 inflammation or much more?. Front Immunol;2023;14:1201989.

Lien vers le texte intégral (Open Access ou abonnement)

20. Pugsley K, Namipashaki A, Vlahos K, Furley K, Graham A, Johnson BP, Kallady K, Kuah JY, Mohanakumar Sindhu VP, Suter A, Hawi Z, Bellgrove MA. Generation of induced pluripotent stem cell lines from three individuals with autism spectrum disorder. Stem Cell Res;2023 (Jul 16);71:103170.

Uncovering the molecular mechanisms of autism spectrum disorder (autism) necessitates development of relevant experimental models that are capable of recapitulating features of the clinical phenotype. Using non-integrative episomal vectors, peripheral blood mononuclear cells derived from three unrelated individuals diagnosed with autism were reprogrammed to induced pluripotent stem cells (iPSCs). The resultant lines exhibited the expected cellular morphology, karyotype, and evidence of pluripotency. These iPSCs constitute a valuable resource to support investigations of the underlying aetiology of autism.

Lien vers le texte intégral (Open Access ou abonnement)

21. Qiang N, Gao J, Dong Q, Li J, Zhang S, Liang H, Sun Y, Ge B, Liu Z, Wu Z, Liu T, Yue H, Zhao S. A deep learning method for autism spectrum disorder identification based on interactions of hierarchical brain networks. Behav Brain Res;2023 (Aug 24);452:114603.

BACKGROUND: It has been recently shown that deep learning models exhibited remarkable performance of representing functional Magnetic Resonance Imaging (fMRI) data for the understanding of brain functional activities. With hierarchical structure, deep learning models can infer hierarchical functional brain networks (FBN) from fMRI. However, the applications of the hierarchical FBNs have been rarely studied. METHODS: In this work, we proposed a hierarchical recurrent variational auto-encoder (HRVAE) to unsupervisedly model the fMRI data. The trained HRVAE encoder can predict hierarchical temporal features from its three hidden layers, and thus can be regarded as a hierarchical feature extractor. Then LASSO (least absolute shrinkage and selection operator) regression was applied to estimate the corresponding hierarchical FBNs. Based on the hierarchical FBNs from each subject, we constructed a novel classification framework for brain disorder identification and test it on the Autism Brain Imaging Data Exchange (ABIDE) dataset, a world-wide multi-site database of autism spectrum disorder (ASD). We analyzed the hierarchy organization of FBNs, and finally used the overlaps of hierarchical FBNs as features to differentiate ASD from typically developing controls (TDC). RESULTS: The experimental results on 871 subjects from ABIDE dataset showed that the HRVAE model can effectively derive hierarchical FBNs including many well-known resting state networks (RSN). Moreover, the classification result improved the state-of-the-art by achieving a very high accuracy of 82.1 %. CONCLUSIONS: This work presents a novel data-driven deep learning method using fMRI data for ASD identification, which could provide valuable reference for clinical diagnosis. The classification results suggest that the interactions of hierarchical FBNs have association with brain disorder, which promotes the understanding of FBN hierarchy and could be applied to other brain disorder analysis.

Lien vers le texte intégral (Open Access ou abonnement)

22. Takeda R, Ishii R, Parvin S, Shiozawa A, Nogi T, Sasaki Y. Novel presynaptic assay system revealed that metformin ameliorates exaggerated synaptic release and Munc18-1 accumulation in presynapses of neurons from Fragile X syndrome mouse model. Neurosci Lett;2023 (Jul 27);810:137317.

Fragile X syndrome (FXS) is a developmental disorder characterized by intellectual disability and autistic-like behaviors. These symptoms are supposed to result from dysregulated translation in pre- and postsynapses, resulting in aberrant synaptic plasticity. Although most drug development research on FXS has focused on aberrant postsynaptic functions by excess translation in postsynapses, the effect of drug candidates on FXS in presynaptic release is largely unclear. In this report, we developed a novel assay system using neuron ball culture with beads to induce presynapse formation, allowing for the analysis of presynaptic phenotypes, including presynaptic release. Metformin, which is shown to rescue core phenotypes in FXS mouse model by normalizing dysregulated translation, ameliorated the exaggerated presynaptic release of neurons of FXS model mouse using this assay system. Furthermore, metformin suppressed the excess accumulation of the active zone protein Munc18-1, which is supposed to be locally translated in presynapses. These results suggest that metformin rescues both postsynaptic and presynaptic phenotypes by inhibiting excess translation in FXS neurons.

Lien vers le texte intégral (Open Access ou abonnement)

23. van der Putten WJ, Mol AJ, Radhoe TA, Torenvliet C, Agelink van Rentergem JA, Groenman AP, Geurts HM. The relationship between camouflaging and mental health: Are there differences among subgroups in autistic adults?. Autism;2023 (Jul 27):13623613231185402.

When autistic people use strategies to hide their autistic characteristics, we call this camouflaging. Autistic adults suggested that camouflaging can result in mental health difficulties. That is, people who report to camouflage also report mental health difficulties. However, since there are many differences between autistic people, this relationship may also differ between subgroups. Therefore, in this study we investigated whether camouflaging and mental health difficulties are related and whether this relationship is equal for all autistic adults. For this study, 352 autistic adults aged 30-84 years filled in the Dutch Camouflaging Autistic Traits Questionnaire to measure camouflaging and the Symptom Checklist-90 Revised to measure mental health difficulties. We found that camouflaging was moderately related to mental health difficulties. This means that people who report more camouflaging also report more mental health difficulties. When we looked closer, we found that this relationship was strong for only a small subgroup of autistic adults. In most other autistic adults, there was a small or no relationship between camouflaging and mental health difficulties. Therefore, it is important that clinicians are aware of camouflaging and its possible relationship with mental health difficulties, but that they do not generalize the negative consequences to everyone.

Lien vers le texte intégral (Open Access ou abonnement)

24. Wu CM, Zhang B, Trenor CC, Rivkin MJ, Danehy A, Lehman LL. Autism Spectrum Disorder in Children With Perinatal Ischemic Stroke Varies by Stroke Type. J Child Neurol;2023 (Jul 27):8830738231188395.

Background and Objectives: Perinatal stroke leads to significant morbidity over a child’s lifetime, including diagnosis of various neurodevelopmental disorders. Specific studies examining the prevalence of autism spectrum disorder in children with perinatal stroke are scarce. Following the clinical observation of autism spectrum disorder in a pediatric referral stroke center, we evaluated the rate of autism spectrum disorder diagnosis after perinatal ischemic stroke, including analysis by subtypes of perinatal ischemic stroke. Methods: We retrospectively examined all children diagnosed with perinatal ischemic stroke, who were ≥18 months old at the time of last follow-up at a single institution from 2008 through 2021. We classified patients as having autism spectrum disorder if they were diagnosed by a neurologist, neuropsychologist, clinical psychologist, or developmental pediatrician. Multivariable logistic regression was performed to examine the association between ischemic stroke subtype and autism spectrum disorder. Results: Among 260 children with perinatal stroke, 19 children (7.3%) also had autism spectrum disorder. Children with perinatal venous stroke had 3-fold higher odds of autism spectrum disorder compared to those with perinatal arterial ischemic stroke (adjusted odds ratio: 3.01, 95% confidence interval: 1.07-8.47). Conclusion: In our perinatal ischemic stroke population, children with venous stroke had higher odds of autism spectrum disorder compared to those with arterial ischemic stroke alone. Prospective studies are needed to further investigate the role of perinatal stroke in autism spectrum disorder development.

Lien vers le texte intégral (Open Access ou abonnement)

25. Zeitouny C, Korte M, Michaelsen-Preusse K. Prolonged and specific spatial training during adolescence reverses adult hippocampal network impairments in a mouse model of fragile X syndrome. Neurobiol Dis;2023 (Jul 27);185:106240.

The fragile X syndrome (FXS) is the leading monogenetic cause of cognitive impairment and autism. A hallmark of FXS in patients and the FXS mouse model (Fmr1 KO) is an overabundance of immature appearing dendritic spines in the cortex and hippocampus which is associated with behavioral deficits. Spine analysis in the different hippocampal subregions and at different developmental stages revealed that in adult mice, hippocampal spine pathology occurs specifically in the CA3 subregion, which plays a pivotal role in pattern completion processes important for efficient memory recall from parts of the initial memory stimulus. In line with this synaptic defect we document an impairment in memory recall during partially cued reference memory test in the Morris water maze task. This is accompanied by impaired recruitment of engram cells as well as impaired spine structural plasticity in the CA3 region. In order to promote hippocampal network development adolescent mice were either raised in an enriched environment or subjected to specific hippocampus-dependent spatial training. Intriguingly, only specific spatial training alleviated the cognitive symptoms and the spine phenotype shown in adult Fmr1 KO mice suggesting that specific stimulation of hippocampal networks during development might be used in the future as a therapeutic strategy.

Lien vers le texte intégral (Open Access ou abonnement)