1. Amestoy A, Baudrillard C, Briot K, Pizano A, Bouvard M, Lai MC. Steroid hormone pathways, vitamin D and autism: a systematic review. Journal of neural transmission (Vienna, Austria : 1996). 2023.

The origins of the male preponderance in autism incidence remain unclear. The idea that perinatal factors associated with sex differentiation (e.g., steroid hormone pathways) may increase the possibility of the emergence of autism is complementary to the hypothesis that female individuals are intrinsically less likely to develop autism. Empirical evidence for the mechanistic roles of in utero steroid hormones in autism etiology is accumulating but inconsistent. We conducted a systematic review using rigorous criteria for the measurements of steroids and vitamin D exposure, to summarize the potential contributing roles of prenatal and early postnatal steroids and vitamin D alterations to the emergence of autism. We searched PubMed, PsychInfo, Scopus, and included 22 studies for qualitative synthesis. Among them, six studies examined the association of autism diagnoses in offspring and levels of steroids and precursor steroid hormones in the fetal environment, eight studies examined the associations between autism and maternal and fetal blood vitamin D levels during pregnancy and at birth, and eight studies examined the associations between offspring autism diagnoses and maternal hyperandrogenemia diagnosed before pregnancy. We identified promising and complex results regarding the relations between steroid metabolism and autism. The interpretation of findings was limited by the mostly observational study designs, insufficient investigation of the effects of offspring sex, confounders and their cumulative effects on the development of the child, and unclear impact of the timing of steroids exposure and their effects on fetal neurodevelopment.

Lien vers le texte intégral (Open Access ou abonnement)

2. Ferreira JM, Bottema-Beutel K. The Interactional Structure of Accounts During Small Group Discussions Among Autistic Children Receiving Special Education Support in Finland. Journal of autism and developmental disorders. 2023.

Through a conversation analytic approach, we investigate the emergence of accounts provided by autistic children in small-group discussions. Nine Finnish children (7-10 years old) attending school with special support participated in a five-month-duration pedagogical practice purposefully designed to enhance children’s participation in groups. We analyzed videos of sharing circles where children discussed their ideas and interests. Our data show three different account structures, which created different modes of children’s participation and gradually changed how they positioned themselves in the group. Results show how accounts can create different focuses of attention; reveal children’s reflections on what is relevant to them, and how to promote the exchange of ideas within a small group. Implications for the development of educational practices are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

3. Hajikhezri Z, Kaira Y, Schubert E, Darweesh M, Svensson C, Akusjärvi G, Punga T. Fragile X-Related Protein FXR1 Controls Human Adenovirus Capsid mRNA Metabolism. Journal of virology. 2023: e0153922.

Human adenoviruses (HAdVs) are widespread pathogens causing a variety of diseases. A well-controlled expression of virus capsid mRNAs originating from the major late transcription unit (MLTU) is essential for forming the infectious virus progeny. However, regulation of the MLTU mRNA metabolism has mainly remained enigmatic. In this study, we show that the cellular RNA-binding protein FXR1 controls the stability of the HAdV-5 MLTU mRNAs, as depletion of FXR1 resulted in increased steady-state levels of MLTU mRNAs. Surprisingly, the lack of FXR1 reduced viral capsid protein accumulation and formation of the infectious virus progeny, indicating an opposing function of FXR1 in HAdV-5 infection. Further, the long FXR1 isoform interfered with MLTU mRNA translation, suggesting FXR1 isoform-specific functions in virus-infected cells. We also show that the FXR1 protein interacts with N6-methyladenosine (m(6)A)-modified MLTU mRNAs, thereby acting as a novel m(6)A reader protein in HAdV-5 infected cells. Collectively, our study identifies FXR1 as a regulator of MLTU mRNA metabolism in the lytic HAdV-5 life cycle. IMPORTANCE Human adenoviruses (HAdVs) are common pathogens causing various self-limiting diseases, such as the common cold and conjunctivitis. Even though adenoviruses have been studied for more than 6 decades, there are still gaps in understanding how the virus interferes with the host cell to achieve efficient growth. In this study, we identified the cellular RNA-binding protein FXR1 as a factor manipulating the HAdV life cycle. We show that the FXR1 protein specifically interferes with mRNAs encoding essential viral capsid proteins. Since the lack of the FXR1 protein reduces virus growth, we propose that FXR1 can be considered a novel cellular proviral factor needed for efficient HAdV growth. Collectively, our study provides new detailed insights about the HAdV-host interactions, which might be helpful when developing countermeasures against pathogenic adenovirus infections and for improving adenovirus-based therapies.

Lien vers le texte intégral (Open Access ou abonnement)

4. Hanamoto H, Hirose Y, Toyama M, Yokoe C, Oyamaguchi A, Niwa H. Effect of midazolam in autism spectrum disorder: A retrospective observational analysis. Acta anaesthesiologica Scandinavica. 2023.

BACKGROUND: While midazolam is commonly used as premedication for uncooperative patients, its effects are difficult to predict in patients with autism spectrum disorder for whom abnormalities in gamma-aminobutyric acid have been reported. This study aimed to investigate the influence of autism spectrum disorder on the effect of midazolam when used as premedication. METHODS: This retrospective observational study was performed between April 2017 and August 2018. Before inducing general anesthesia with sevoflurane for dental treatment, 390 uncooperative patients received premedication with midazolam. Ordinal logistic regression analysis was performed with the Observer’s Assessment of Alertness/Sedation score 30 min after premedication as the objective variable. Age, sex, American Society of Anesthesiologists physical status class, premedication route, dose per body weight, presence of specific disorders (autism spectrum disorder, intellectual disability, epilepsy, cerebral palsy, and other psychiatric disorders), and regular benzodiazepine or non-benzodiazepine psychotropic administration were included as explanatory variables. Kendall’s rank correlation coefficient was used to assess the correlation between the Observer’s Assessment of Alertness/Sedation score and cooperation level (1, obvious negative response; 2, negative response; 3, positive reaction; 4, obvious positive reaction) during admission and inhalation induction. All data were extracted from anesthesia and medical records. RESULTS: Age (odds ratio 1.437 [95% confidence interval (CI) 1.213-1.708], P < .001), autism spectrum disorder (1.318 [1.079-1.612], P = .007), benzodiazepine medication (0.574 [0.396-0.827], P = .002), and intramuscular route (1.478 [1.137-1.924], P = .004) were significantly associated with the Observer's Assessment of Alertness/Sedation score, while the score was negatively associated with cooperation levels during admission (τ = -0.714, P < .001) and inhalation induction (τ = -0.606, P < .001). CONCLUSIONS: Patients with autism spectrum disorder may be susceptible to premedication with midazolam; however, regular benzodiazepine administration may reduce the effect.

Lien vers le texte intégral (Open Access ou abonnement)

5. Hu A, Kozloff V, Owen Van Horne A, Chugani D, Qi Z. Dissociation Between Linguistic and Nonlinguistic Statistical Learning in Children with Autism. Journal of autism and developmental disorders. 2023.

Statistical learning (SL), the ability to detect and extract regularities from inputs, is considered a domain-general building block for typical language development. We compared 55 verbal children with autism (ASD, 6-12 years) and 50 typically-developing children in four SL tasks. The ASD group exhibited reduced learning in the linguistic SL tasks (syllable and letter), but showed intact learning for the nonlinguistic SL tasks (tone and image). In the ASD group, better linguistic SL was associated with higher language skills measured by parental report and sentence recall. Therefore, the atypicality of SL in autism is not domain-general but tied to specific processing constraints related to verbal stimuli. Our findings provide a novel perspective for understanding language heterogeneity in autism.

Lien vers le texte intégral (Open Access ou abonnement)

6. Karabacak Y, Barun S, Vural İ M, Vural E, Iseri E, Kahve AC, Yilmaz E, Isli F, Turkes S, Ezber E, Paykal G. Profile of psychotropic agents used in autism spectrum disorder according to comorbidities in Turkey: A 4-year evaluation. International clinical psychopharmacology. 2023.

It is known that the use of psychotropic pharmaceuticals is common in comorbidities seen in autism spectrum disorder (ASD). We have very limited knowledge about which psychotropic drugs are prescribed when comorbidities are diagnosed in patients with ASD. It is aimed to determine the profile of psychotropic agents in patients diagnosed with ASD associated with comorbidities between the ages of 0-24 in Turkey over 4 years. Data belonging to ASD in Prescription Information System (PIS) was obtained from the ‘Turkish Medicines and Medical Devices Agency’. A total of 34 066 prescriptions including 45 624 psychotropic drugs were analyzed. A total of psychotropic drugs prescribed for patients with ASD was 75.4%. The following psychotropic drugs were prescribed for the patients with ASD and its comorbidities; risperidone (28.6%), aripiprazole (13.7%), and valproic acid (11.3%) are the most preferred psychotropics. The percentage of pharmaceuticals containing psychotropic active substances in prescriptions with ASD and its comorbidities is 7.5%. This study is the first research in which psychotropics used in ASD were evaluated over a wide period and nationwide. Antipsychotics were most commonly prescribed with the diagnosis of ASD. In the presence of ASD and its comorbidities, risperidone was most frequently prescribed.

Lien vers le texte intégral (Open Access ou abonnement)

7. Kaya A, Yıldız G. « I think they do not know how to lie: » The perceptions of legal support staff about person with intellectual disabilities/autism in Turkish legal system. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: Increased social integration of individuals with intellectual disabilities or autism could may raise their likelihood of interacting with justice system and legal staff. AIMS: The present article aimed to determine the perceptions of the legal support staff about the individuals with intellectual disabilities or autism. MATERIALS AND METHODS: In the study, conducted with the phenomenological method, the views of 15 legal support staff were obtained. The study reported what participants perceived and examined whether participants had an accurate understanding of the experiences/support needs of people with intellectual disabilities/autism. The data were analysed with content analysis. RESULTS: Three themes were determined: (1) Experience of interview with an individual with intellectual disabilities/autism, (2) attitudes of judges, lawyers and other staff, and (3) abuse/trauma. DISCUSSION: Findings are consistent with literature. Individuals with intellectual disabilities/autism have problems in expressing themselves, also staff do not know them, do not know their features. Studies show that staff often do not know what to do in these interviews. CONCLUSION: Based on the participant perspectives, it was determined that individuals with intellectual disabilities/autism experienced self-expression problems, interviewees did not understand children/individuals with intellectual disabilities or autism and could exhibit negative attitudes, the children could be abused and traumatised during judicial processes, they were more prone to abuse when compared to their peers, they could be involved in certain events more frequently and could be pushed to crime.

Lien vers le texte intégral (Open Access ou abonnement)

8. Lee JH, Yun J, Hwang H, Kim SM, Han DH. The Study on the Identification of Musical Passages for an Emotion Perception Scale for People With Developmental Disabilities. Journal of Korean medical science. 2023; 38(5): e30.

BACKGROUND: Emotion recognition is essential to the social adjustment and social interaction of people with intellectual and developmental disabilities (IDDs). Given that music is a medium for expressing and conveying human emotion, we conducted this preliminary study to identify musical passages representing the basic human emotions of happiness, sadness, and anger, with the goal of developing a music-based emotion perception scale for IDDs. METHODS: To identify musical passages for emotion perception, 20 certified music therapists evaluated 100 selected musical passages and established 60 pieces that yielded the highest agreement for each emotion category. During the second phase of this study, 300 neurotypical participants rated 60 passages in terms of the perceived type and intensity of emotions expressed. RESULTS: The 60 passages showed high reliability and were statistically classified into three factors: happiness, sadness, and anger. The k-means cluster analysis yielded a cut-off score of 41 for the low emotion perception group (F = 1120.63, P < 0.001). The hierarchical logistic regression analysis revealed that only model 3 (musical passages) was significantly associated with low emotion perception (step χ² = 227.8, P < 0.001). CONCLUSION: The selected musical passages demonstrated high reliability and established three factors for identifying perceptions of happiness, sadness, and anger. Neither psychological status nor individual demographic characteristics affected the emotion perception results.

Lien vers le texte intégral (Open Access ou abonnement)

9. Liu J, Chang H, Abrams DA, Kang JB, Chen L, Rosenberg-Lee M, Menon V. Atypical cognitive training-induced learning and brain plasticity and their relation to insistence on sameness in children with autism. bioRxiv : the preprint server for biology. 2023.

Children with autism spectrum disorders (ASD) often display atypical learning styles, however little is known regarding learning-related brain plasticity and its relation to clinical phenotypic features. Here, we investigate cognitive learning and neural plasticity using functional brain imaging and a novel numerical problem-solving training protocol. Children with ASD showed comparable learning relative to typically developing children but were less likely to shift from rule-based to memory-based strategy. Critically, while learning gains in typically developing children were associated with greater plasticity of neural representations in the medial temporal lobe and intraparietal sulcus, learning in children with ASD was associated with more stable neural representations. Crucially, the relation between learning and plasticity of neural representations was moderated by insistence on sameness, a core phenotypic feature of ASD. Our study uncovers atypical cognitive and neural mechanisms underlying learning in children with ASD, and informs pedagogical strategies for nurturing cognitive abilities in childhood autism.

Lien vers le texte intégral (Open Access ou abonnement)

10. Prasad T, Iyer S, Chatterjee S, Kumar M. In vivo models to study neurogenesis and associated neurodevelopmental disorders-Microcephaly and autism spectrum disorder. WIREs mechanisms of disease. 2023: e1603.

The genesis and functioning of the central nervous system are one of the most intricate and intriguing aspects of embryogenesis. The big lacuna in the field of human CNS development is the lack of accessibility of the human brain for direct observation during embryonic and fetal development. Thus, it is imperative to establish alternative animal models to gain deep mechanistic insights into neurodevelopment, establishment of neural circuitry, and its function. Neurodevelopmental events such as neural specification, differentiation, and generation of neuronal and non-neuronal cell types have been comprehensively studied using a variety of animal models and in vitro model systems derived from human cells. The experimentations on animal models have revealed novel, mechanistic insights into neurogenesis, formation of neural networks, and function. The models, thus serve as indispensable tools to understand the molecular basis of neurodevelopmental disorders (NDDs) arising from aberrations during embryonic development. Here, we review the spectrum of in vivo models such as fruitfly, zebrafish, frog, mice, and nonhuman primates to study neurogenesis and NDDs like microcephaly and Autism Spectrum Disorder. We also discuss nonconventional models such as ascidians and the recent technological advances in the field to study neurogenesis, disease mechanisms, and pathophysiology of human NDDs. This article is categorized under: Cancer > Stem Cells and Development Congenital Diseases > Stem Cells and Development Neurological Diseases > Stem Cells and Development Congenital Diseases > Genetics/Genomics/Epigenetics.

Lien vers le texte intégral (Open Access ou abonnement)

11. Ruan H, Eungpinichpong W, Wu H, Aonsri C. Physiological and Psychological Effects of Parent-Delivered Traditional Thai Massage in Children With Autism: Protocol for a Randomized Controlled Trial. JMIR research protocols. 2023; 12: e41839.

BACKGROUND: Although many autistic children receive massage as a complementary therapy, it is not included in evidence-based practice for autism because evidence of its efficacy is lacking. Further, prior studies have failed to identify objective indicators of core symptoms or elucidate their mechanisms. OBJECTIVE: We developed a parent-delivered traditional Thai massage (TTM) intervention for children with autism, aiming to experimentally determine whether children with autism truly experience positive effects from parent-delivered TTM and determine possible mechanisms of the observed effects. METHODS: A 2-armed, parallel randomized controlled trial was conducted between February 2022 and June 2022. Forty-eight children with autism (aged 7-12 years) were recruited from the Hainan Special Education School and randomly assigned to either a parental TTM or control group at a ratio of 1:1 based on random numbers generated with Online Research Randomizer. The generated sequences were concealed in an opaque envelope. Individuals in the parental TTM group received 16 parent-delivered TTM sessions over 8 weeks at the school’s health room after school, and the control group maintained a normal daily routine. Outcomes were assessed on admission, after 8 weeks, and at a 2-month follow-up and included the effect of massage treatment on autism symptoms, measured with the Autism Treatment Evaluation Checklist score (evaluated by parents and a blinded teacher), physiological parameters (ie, heart rate variability and gait), and the Parenting Stress Index, Fourth Edition-Short Form. RESULTS: We finished all data collection on June 20, 2022. Data analysis will be started, and we expect to publish results in 2023. CONCLUSIONS: This study will provide further evidence for massage treatment of autism and provide support for family-based care. TRIAL REGISTRATION: Chinese Clinical Trial Registry ChiCTR2100051355; https://tinyurl.com/3dwjxsw5. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/41839.

Lien vers le texte intégral (Open Access ou abonnement)

12. Shui AM, Lampinen LA, Richdale A, Katz T. Predicting future sleep problems in young autistic children. Autism : the international journal of research and practice. 2023: 13623613231152963.

Sleep problems are common in autistic children and negatively impact daytime functioning. A method for predicting sleep problems could help with treatment and prevention of such problems. This study aimed to determine predictors of sleep problems among young autistic children. Study participants consisted of autistic children aged 2-5 years who did not have sleep problems at a first visit (Autism Treatment Network Registry) and had sleep data available at a subsequent visit (Registry Call-Back Assessment study). Sleep problems for five study cohorts of children were defined by different methods, including parent questionnaires and parent- or clinician-report of sleep problems. We found that self-injurious behavior, sensory issues, dental problems, and lower primary caregiver education level were significant risk factors of future sleep problems. These predictors may help clinicians provide prevention or earlier treatment for children who are at risk of developing sleep problems.

Lien vers le texte intégral (Open Access ou abonnement)

13. Ten Hoopen LW, de Nijs PF, Slappendel G, van der Ende J, Bastiaansen D, Greaves-Lord K, Hakkaart-van Roijen L, Hillegers MH. Associations between autism traits and family functioning over time in autistic and non-autistic children. Autism : the international journal of research and practice. 2023: 13623613231151784.

Little is known about family functioning over time when raising a child with autism traits, with or without a clinical autism diagnosis. Therefore, we asked caregivers-mostly parents-of a group of 168 children about the family functioning and the child’s emotional and behavioral characteristics, as well as autistic traits, twice with about 1 year in between. For numerous reasons, the children were referred to youth mental health care centers, including child and adolescent psychiatric services. Care as usual was offered after the diagnostic assessment if a clinical diagnosis was the assessment outcome. Caregivers reported less problematic family functioning in children with fewer autism traits over time. The child’s additional emotional or behavioral characteristics did not seem to influence this relation. Furthermore, we split the whole group into autistic children with a clinical autism diagnosis (58%) and non-autistic children with autism traits but without a clinical diagnosis (42%) to see whether we would find the same results in both groups. Surprisingly, the relation between family functioning and the level of a child’s autism traits only held for the subgroup of non-autistic children with autism traits. Thus, raising children with autism traits without a clinical diagnosis may affect family functioning over time. We think that families might have difficulty understanding and adjusting to the autism traits of their children but are lacking the support that is exclusively offered to families of children with a clinical autism diagnosis. We must be cautious because we do not know whether there is a causal relation. Although further research is needed to explore and learn to understand this result, clinicians might consider offering support to families of children with subthreshold autism to prevent problems in family functioning. Because high autism trait levels in non-autistic children may be of a different origin than autism, for example, other neurodevelopmental or mental health problems, family training or support should be tailored to the child’s underlying difficulties.

Lien vers le texte intégral (Open Access ou abonnement)

14. Toya A, Fukada M, Aoki E, Matsuki T, Ueda M, Eda S, Hashizume Y, Iio A, Masaki S, Nakayama A. The distribution of neuroligin4, an autism-related postsynaptic molecule, in the human brain. Molecular brain. 2023; 16(1): 20.

NLGN4X was identified as a single causative gene of rare familial nonsyndromic autism for the first time. It encodes the postsynaptic membrane protein Neuroligin4 (NLGN4), the functions and roles of which, however, are not fully understood due to the lack of a closely homologous gene in rodents. It has been confirmed only recently that human NLGN4 is abundantly expressed in the cerebral cortex and is localized mainly to excitatory synapses. However, the detailed histological distribution of NLGN4, which may have important implications regarding the relationships between NLGN4 and autistic phenotypes, has not been clarified. In this study, we raised specific monoclonal and polyclonal antibodies against NLGN4 and examined the distribution of NLGN4 in developing and developed human brains by immunohistochemistry. We found that, in the brain, NLGN4 is expressed almost exclusively in neurons, in which it has a widespread cytoplasmic pattern of distribution. Among various types of neurons with NLGN4 expression, we identified consistently high expression of NLGN4 in hypothalamic oxytocin (OXT)/vasopressin (AVP)-producing cells. Quantitative analyses revealed that the majority of OXT/AVP-producing neurons expressed NLGN4. NLGN4 signals in other large neurons, such as pyramidal cells in the cerebral cortex and hippocampus as well as neurons in the locus coeruleus and the raphe nucleus, were also remarkable, clearly contrasting with no or scarce signals in Purkinje cells. These data suggest that NLGN4 functions in systems involved in intellectual abilities, social abilities, and sleep and wakefulness, impairments of which are commonly seen in autism.

Lien vers le texte intégral (Open Access ou abonnement)

15. Williams AN. Pausanias as a literary case of autism Spectrum disorder. Journal of travel medicine. 2023.

Lien vers le texte intégral (Open Access ou abonnement)

16. Zhang K, Fu Z, Lai Q, Zhao Y, Liu J, Cao Q. The shared white matter developmental trajectory anomalies of attention-deficit/hyperactivity disorder and autism spectrum disorders: A meta-analysis of diffusion tensor imaging studies. Progress in neuro-psychopharmacology & biological psychiatry. 2023: 110731.

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) show common brain area abnormalities, which may contribute to the high shared co-occurrence symptoms and comorbidity of the two disorders. However, neuroanatomic anomalies in neurodevelopmental disorders may change over the course of development, and the developmental variation of these two disorders is unclear. Our study conducted a systematic literature search of PubMed, Web of Science, and EMBASE databases to identify disorder-shared abnormalities of white matter (WM) from childhood to adulthood in ADHD and ASD. 28 ADHD and 23 ASD datasets were included in this meta-analysis and were analysed by AES-SDM to detect differences in fractional anisotropy in patients compared to typically developing individuals. Our main findings reveal the variable WM developmental trajectories in ADHD and ASD respectively, and the two disorders showed overlapping corpus callosum tract abnormalities in their development from children to adults. Furthermore, the overlapping abnormalities of the corpus callosum tract increased with age, which may be related to their gradually increasing shared symptoms and comorbidity in these two disorders.

Lien vers le texte intégral (Open Access ou abonnement)