Pubmed du 16/05/23

Pubmed du jour

1. Agius H, Luoto AK, Backman A, Eriksdotter C, Jayaram-Lindström N, Bölte S, Hirvikoski T. Mindfulness-based stress reduction for autistic adults: A feasibility study in an outpatient context. Autism : the international journal of research and practice. 2023: 13623613231172809.

Autistic adults report high stress levels and difficulties dealing with everyday stressors. Mindfulness-based stress reduction groups aim to help regulate stress responses. We asked 50 autistic adults, without intellectual disability, to participate in a study of mindfulness-based stress reduction. The group program was made accessible through clear group leader communication and good program predictability, as well as reduced exposure to disturbing sensory stimuli. The mindfulness and yoga based exercises from the original mindfulness-based stress reduction program were included. The participants were positive and would even recommend an autistic friend to participate in a mindfulness-based stress reduction group. They reported that mindfulness-based stress reduction could lower symptoms of stress and improved stress coping. We still need to investigate these effects further in larger studies. The findings of this work show that mindfulness-based stress reduction groups can be adapted for autistic adults and that the participants overall were positive to the intervention and the group format.

Lien vers le texte intégral (Open Access ou abonnement)

2. Aydin Ü, Gyurkovics M, Ginestet C, Capp S, Greven CU, Palmer J, McLoughlin G. Genetic overlap between midfrontal theta signals and ADHD and ASD in a longitudinal twin cohort. Biological psychiatry. 2023.

BACKGROUND: Cognitive control has been strongly linked to midfrontal theta (4-8 Hz) brain activity. Such control processes are known to be impaired in those with psychiatric conditions, and neurodevelopmental diagnoses, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Temporal variability in theta in particular is associated with ADHD with shared genetic variance underlying the relationship. Here, we investigated the phenotypic and genetic relationships between theta phase variability, theta-related signals (N2, ERN, Pe), reaction time, and ADHD and ASD longitudinally in a large twin study of young adults to investigate the stability of the genetic relationships between these measures over time. METHODS: Genetic multivariate liability threshold models were run on a longitudinal sample of 566 participants (283 twin pairs). Characteristics of ADHD and ASD were measured in childhood and in young adulthood, while EEG was recorded in young adulthood during an arrow flanker task. RESULTS: Cross-trial theta phase variability in adulthood showed large positive phenotypic and genetic relationships with reaction time variability and both childhood and adult ADHD characteristics. Pe amplitude was negatively related phenotypically and genetically to ADHD and ASD at both time points. CONCLUSIONS: We show significant genetic associations between variability in theta signalling and ADHD. In a novel finding, we show that these relationships are stable across time, indicating a core dysregulation of the temporal coordination of control processes in ADHD that persists in those with childhood symptoms. Error processing, indexed by the Pe, was altered in both ADHD and ASD, with a strong genetic contribution.

Lien vers le texte intégral (Open Access ou abonnement)

3. Carrick A, Hamilton CJ. Heated Behaviour in the Classroom for Children with FASD: The Relationship between Characteristics Associated with ADHD, ODD and ASD, Hot Executive Function and Classroom Based Reward Systems. Children (Basel, Switzerland). 2023; 10(4).

Possession of characteristics related to Attention Deficit Hyperactive Disorder, Oppositional Defiance Disorder, and Autism Spectrum Disorder in children prenatally exposed to alcohol contributes to challenges within the diagnostic pathway for Foetal Alcohol Spectrum Disorder (FASD). The presentation of these characteristics, though problematic for the children affected, may not result in referral for diagnosis; focusing on diagnostic thresholds masks the dimensional nature of these characteristics. Children with traits which are undiagnosed may not receive effective support and are often identified as exhibiting challenging behaviour. In the UK, children with undiagnosed Special Educational Needs (SEN) are more likely to experience school exclusion. Common across each condition are challenges to executive function associated with emotional regulation (hot-executive function). This study explored the relationship between characteristics of Attention Deficit Hyperactive Disorder, Oppositional Defiance Disorder, Autistic-Like Traits, and hot executive functions on the helpfulness of reward-based interventions for children with suspected or diagnosed FASD. Data were collected online using caregiver referral questionnaire screeners for each measure (Child Autism Quotient Questionnaire, Vanderbilt ADHD Parental Rating Scale and The Childhood Executive Functioning Inventory) for children aged 6-12 years with suspected or diagnosed FASD (n = 121). Between-group comparisons showed no significant difference in the reporting of Attention Deficit Hyperactive Disorder characteristics, Oppositional Defiance Disorder characteristics, Autistic-Like Traits, and executive function, regardless of diagnostic state. Multiple regression analyses indicated that these personality characteristics and executive functions were associated with the perception of the reward system helpfulness. However, this pattern was qualified by both the type of hot executive function challenged (significant for Regulation not Inhibition) and whether the child had an FASD diagnosis. Thus, a dimensional approach may strengthen our understanding of the child’s classroom experience and help overcome barriers to effective intervention and support.

Lien vers le texte intégral (Open Access ou abonnement)

4. Devescovi R, Bresciani G, Colonna V, Carrozzi M, Dissegna A, Celea MA, Cescon D, Frisari S, Guerrieri M, Placer F, Stocchi M, Terpini C, Colombi C. Short-Term Outcomes of an ESDM Intervention in Italian Children with Autism Spectrum Disorder following the COVID-19 Lockdown. Children (Basel, Switzerland). 2023; 10(4).

The COVID-19 pandemic caused a temporary lockdown period in Italy, during which the delivery of in-person treatment for children with autism spectrum disorder (ASD) in public health services was discontinued. This occurrence represented a crucial challenge for both families and professionals. We assessed the short-term outcomes of a sample of 18 children who received an early intervention with the Early Start Denver Model (ESDM), delivered at low intensity over one year in the pre-pandemic period, after six months of interruption of in-presence treatment due to lockdown restrictions. Children who received the ESDM treatment maintained their gains in sociocommunicative skills and did not exhibit any developmental regression. Additionally, there was evidence of a decrease in the restrictive and repetitive behavior (RRB) domain. The parents, who were already familiar with the principles of the ESDM, only received telehealth support from therapists that aimed to sustain the gains already achieved. We believe that it is always helpful to support parents in their daily lives by implementing interactional and play skills with their children to integrate and consolidate the results obtained in the individual interventions conducted by experienced therapists.

Lien vers le texte intégral (Open Access ou abonnement)

5. Dyson A, Ryan M, Garg S, Evans DG, Baines RA. A Targeted, Low-Throughput Compound Screen in a Drosophila Model of Neurofibromatosis Type 1 Identifies Simvastatin and BMS-204352 as Potential Therapies for Autism Spectrum Disorder (ASD). eNeuro. 2023; 10(5).

Autism spectrum disorder (ASD) is a common neurodevelopmental condition for which there are no pharmacological therapies that effectively target its core symptomatology. Animal models of syndromic forms of ASD, such as neurofibromatosis type 1, may be of use in screening for such treatments. Drosophila larvae lacking Nf1 expression exhibit tactile hypersensitivity following mechanical stimulation, proposed to mirror the sensory sensitivity issues comprising part of the ASD diagnostic criteria. Such behavior is associated with synaptic dysfunction at the neuromuscular junction (NMJ). Both phenotypes may thus provide tractable outputs with which to screen for potential ASD therapies. In this study, we demonstrate that, while loss of Nf1 expression within the embryo is sufficient to impair NMJ synaptic transmission in the larva, constitutive Nf1 knock-down is required to induce tactile hypersensitivity, suggesting that a compound must be administered throughout development to rescue this behavior. With such a feeding regime, we identify two compounds from a targeted, low-throughput screen that significantly and consistently reduce, but do not fully rescue, tactile hypersensitivity in Nf1(P1) larvae. These are the HMG CoA-reductase inhibitor simvastatin, and the BK(Ca) channel activator BMS-204352. At the NMJ, both compounds induce a significant reduction in the enhanced spontaneous transmission frequency of Nf1(P1) larvae, though again not to the level of vehicle-treated controls. However, both compounds fully rescue the increased quantal size of Nf1(P1) mutants, with simvastatin also fully rescuing their reduced quantal content. Thus, the further study of both compounds as potential ASD interventions is warranted.

Lien vers le texte intégral (Open Access ou abonnement)

6. Gentles SJ, Ng-Cordell EC, Hunsche MC, McVey AJ, Bednar ED, DeGroote MG, Chen YJ, Duku E, Kerns CM, Banfield L, Szatmari P, Georgiades S. Trajectory research in children with an autism diagnosis: A scoping review. Autism : the international journal of research and practice. 2023: 13623613231170280.

The types of outcomes studied in children on the autism spectrum include clinical characteristics, such as social functioning, communication, language, or autism symptoms. Research that measures these outcomes at multiple timepoints is useful to improve our understanding of what to expect as children develop. In trajectory studies, researchers assess outcomes at three or more timepoints. This method has advantages over two-timepoint studies because it allows researchers to describe changes in the speed of development, such as accelerations, plateaus, or slowdowns. We identified and reviewed 103 published trajectory studies in children (to age 18 years) with an autism diagnosis. Importantly, we did not include studies of treatments or their effects, nor did we summarize the results of studies. Instead, this review summarizes the characteristics of the available published research, including the methods used, the many different outcomes that have been studied over time and the ages over which they have been studied. This summary may be of interest to autistic people and caregivers (parents) who want to know about the existence of research that provides answers about what to expect during an autistic child’s development. We have recommended that future trajectory research efforts try to make up for the lack of studies from low- and middle-income countries; that more attention is given to the following outcomes that are meaningful to caregivers and autistic people; and to try to fill in the age gaps where more outcome-specific data are needed.

Lien vers le texte intégral (Open Access ou abonnement)

7. Greer KM, Simić Stanojević I, Cary KM, PettyJohn ME, Piatt JJ, Yarber WL. BARRIERS TO REPORTING AND LACK OF EQUITABLE SUPPORT: ABORTION ACCESS FOR ADULTS WITH AUTISM EXPERIENCING RAPE-RELATED PREGNANCY POST-ROE. Journal of trauma & dissociation : the official journal of the International Society for the Study of Dissociation (ISSD). 2023: 1-14.

Following the overturning of Roe v. Wade, individuals with autism experience unique barriers to accessing abortion for rape-related pregnancies in states restricting reproductive health care. Barriers to reporting rape include inadequate sex education which contributes to a lack of information about sexual violence (SV), difficulties labeling and recognizing SV, and potential difficulties navigating the role of a caregiver or conservator when reporting SV. Individuals with autism often experience a lack of equitable support from formal SV support services. Both barriers to reporting and lack of equitable support from formal SV support services reflect that individuals with autism are marginalized and often overlooked when receiving sexual and reproductive health care. Suggestions are provided for sexuality educators, SV support services, police, healthcare providers and policymakers, for better supporting individuals with autism experiencing rape-related pregnancy in states with abortion restrictions.

Lien vers le texte intégral (Open Access ou abonnement)

8. Leoni M, Vanes LD, Hadaya L, Kanel D, Dazzan P, Simonoff E, Counsell SJ, Happé F, Edwards AD, Nosarti C. Exploring cognitive, behavioral and autistic trait network topology in very preterm and term-born children. Frontiers in psychology. 2023; 14: 1119196.

INTRODUCTION: Compared to full-term (FT) born peers, children who were born very preterm (VPT; <32 weeks' gestation) are likely to display more cognitive and behavioral difficulties, including inattention, anxiety and socio-communication problems. In the published literature, such difficulties tend to be studied independently, thus failing to account for how different aspects of child development interact. The current study aimed to investigate children's cognitive and behavioral outcomes as interconnected, dynamically related facets of development that influence one another. METHODS: Participants were 93 VPT and 55 FT children (median age 8.79 years). IQ was evaluated with the Wechsler Intelligence Scale for Children-4(th) edition (WISC-IV), autism spectrum condition (ASC) traits with the social responsiveness scale-2(nd) edition (SRS-2), behavioral and emotional problems with the strengths and difficulties questionnaire (SDQ), temperament with the temperament in middle childhood questionnaire (TMCQ) and executive function with the behavior rating inventory of executive functioning (BRIEF-2). Outcome measures were studied in VPT and FT children using Network Analysis, a method that graphically represents partial correlations between variables and yields information on each variable's propensity to form a bridge between other variables. RESULTS: VPT and FT children exhibited marked topological differences. Bridges (i.e., the variables most connected to others) in the VPT group network were: conduct problems and difficulties with organizing and ordering their environment. In the FT group network, the most important bridges were: difficulties with initiating a task or activity and prosocial behaviors, and greater emotional problems, such as lower mood. DISCUSSION: These findings highlight the importance of targeting different aspects of development to support VPT and FT children in person-based interventions.

Lien vers le texte intégral (Open Access ou abonnement)

9. Manzar S. Maternal infection, prenatal antibiotics, and risk of autism in the offspring. Paediatric and perinatal epidemiology. 2023.

Lien vers le texte intégral (Open Access ou abonnement)

10. Marterosyan J, Gooch J. Neurodivergence and radiology: How medical professionals can optimise the standard of care provided to autistic paediatric patients. Radiography (London, England : 1995). 2023; 29(4): 680-3.

INTRODUCTION: Several studies have been published regarding patients with various neurodevelopmental diagnoses attending hospital appointments, however, few focus on autism and the radiology department. This paper aims to identify how implementing patient-centred strategies and protocols for autistic paediatric patients will benefit the patient pathway and provide a more comfortable experience for those undergoing different scans and procedures within the radiology department. METHODS: Using several electronic databases, articles were collected using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and analysed with the Critical Appraisals Skills Programme (CASP). DISCUSSION: A total of 8 articles are discussed and analysed in this review, focussing specifically on patient-centred procedures and practice, costs of healthcare services and how multidisciplinary teamwork compares to applied behavioural analysis. RESULTS: The articles concluded that the current practice of multidisciplinary working is the most beneficial for patients. Furthermore, implementing autism awareness programmes and patient-specific protocols will help reduce anxiety surrounding scans within the radiology department. CONCLUSION AND IMPLICATIONS FOR PRACTICE: Implementing mandatory autism awareness programmes and continuing with the multidisciplinary approach for autistic paediatric patients would provide the best possible patient-centred care.

Lien vers le texte intégral (Open Access ou abonnement)

11. Martinez-Cayuelas E, Merino-Andreu M, Losada-Del Pozo R, Gavela-Pérez T, Garcés C, Soriano-Guillén L. Response to Melatonin Treatment in Children With Autism spectrum Disorder and Relationship to Sleep Parameters and Melatonin Levels. Journal of child neurology. 2023: 8830738231173606.

Melatonin is one of the most used pharmacologic treatments for sleep problems in autism spectrum disorder, though its relationship with circadian and sleep parameters is still not well stablished. A naturalistic study was conducted in children with autism spectrum disorder, previously drug-naïve, before and after treatment with immediate-release melatonin. Circadian rhythms and sleep parameters were studied using an ambulatory circadian-monitoring device, and saliva samples were collected enabling determination of dim light melatonin onset. Twenty-six children with autism spectrum disorder (age 10.50  ±  2.91) were included. Immediate-release melatonin modified circadian rhythm as indicated by wrist skin temperature, showing an increase at night. A positive correlation was found between time of peak melatonin and sleep efficiency improvement values. Sleep-onset latency and efficiency improved with immediate-release melatonin. Immediate-release melatonin could be an effective treatment to improve sleep onset and restore a typical pattern of wrist temperature, which appears to be lost in autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

12. Maurer JJ, Choi A, An I, Sathi N, Chung S. Sleep disturbances in autism spectrum disorder: Animal models, neural mechanisms, and therapeutics. Neurobiology of sleep and circadian rhythms. 2023; 14: 100095.

Sleep is crucial for brain development. Sleep disturbances are prevalent in children with autism spectrum disorder (ASD). Strikingly, these sleep problems are positively correlated with the severity of ASD core symptoms such as deficits in social skills and stereotypic behavior, indicating that sleep problems and the behavioral characteristics of ASD may be related. In this review, we will discuss sleep disturbances in children with ASD and highlight mouse models to study sleep disturbances and behavioral phenotypes in ASD. In addition, we will review neuromodulators controlling sleep and wakefulness and how these neuromodulatory systems are disrupted in animal models and patients with ASD. Lastly, we will address how the therapeutic interventions for patients with ASD improve various aspects of sleep. Together, gaining mechanistic insights into the neural mechanisms underlying sleep disturbances in children with ASD will help us to develop better therapeutic interventions.

Lien vers le texte intégral (Open Access ou abonnement)

13. Moo JT, Ho RT. Benefits and challenges of tele-dance movement psychotherapy with children with autism and their parents. Digital health. 2023; 9: 20552076231171233.

Dance movement psychotherapy can be physically and psychologically beneficial for children with autism spectrum disorder. The coronavirus disease 2019 pandemic required therapy to take place online. However, tele-dance movement psychotherapy with children with autism spectrum disorder has yet to be studied. This mixed methods study involving qualitative research and movement analyses entailed providing tele-dance movement psychotherapy to children with autism spectrum disorder and their parents, during the coronavirus disease 2019 pandemic, and exploring its potential benefits and challenges. The parents who completed the programme reported positive outcomes including the child’s social development, enjoyment, improved understanding of their child, insight and ideas, as well as relationship-building. Movement analyses using the Parent Child Movement Scale (PCMS) lent greater insight into these developments. All of the parents reported challenges in participating in tele-dance movement psychotherapy. These were related to screen-to-screen interactions, home, and physical distance. There was a relatively high attrition rate. These findings highlight the challenges of tele-dance movement psychotherapy with children with autism spectrum disorder and the unique benefits of meeting in person whilst the positive outcomes may indicate that tele-dance movement psychotherapy can be beneficial, perhaps particularly as an interim or adjunct form of therapy. Specific measures can be taken to enhance engagement.

Lien vers le texte intégral (Open Access ou abonnement)

14. Mottron L, Gagnon D. Prototypical autism: New diagnostic criteria and asymmetrical bifurcation model. Acta psychologica. 2023; 237: 103938.

The current « autism spectrum » DSM 5 diagnostic criteria and autism standardized diagnostic instruments promote considerable heterogeneity or clinical indecision and may be detrimental to the advancement of fundamental research on autism mechanisms. To increase clinical specificity and reorient research towards core autistic presentations, we propose new diagnostic criteria for prototypical autism during the age of 2- to 5-years. We include autism within other non-dominant, familiarly aggregated phenomena sharing asymmetrical developmental bifurcations, such as twin pregnancy, left handedness, and breech presentation/delivery. Following this model, nature, trajectory, and positive/negative signs structure of autism would result from the polarized problem of whether or not language and information is processed in a socially biased manner. Prototypical autism would follow a canonical developmental trajectory by which a gradual decline in social bias in the processing of incoming information, overtly beginning at the end of the first year, bifurcates into a prototypical autistic presentation in the second half of the second year of life. This bifurcation event is followed by a plateau, in which these atypicalities show maximal stringency and distinctiveness, and then ultimately, in most cases, by partial normalization. During the plateau period, the orientation towards, and processing of, information is considerably modified, with an absence of bias for social information, contrasting with a high level of interest in complex, unbiased information, independently of its social or non-social nature. Integrating autism into asymmetrical developmental bifurcations would explain the absence of deleterious neurological and genetic markers and the presence of familial transmission in canonical autistic presentations.

Lien vers le texte intégral (Open Access ou abonnement)

15. Pepe G, Fioriniello S, Marracino F, Capocci L, Maglione V, D’Esposito M, Di Pardo A, Della Ragione F. Blood-Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome. Biomolecules. 2023; 13(4).

Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for brain functioning. Despite intensive studies, the RTT pathogenetic mechanism remains to be fully elucidated. Impaired vascular function has been previously reported in RTT mouse models; however, whether an altered brain vascular homeostasis and the subsequent blood-brain barrier (BBB) breakdown occur in RTT and contribute to the disease-related cognitive impairment is still unknown. Interestingly, in symptomatic Mecp2-null (Mecp2(-/y), Mecp2(tm1.1Bird)) mice, we found enhanced BBB permeability associated with an aberrant expression of the tight junction proteins Ocln and Cldn-5 in different brain areas, in terms of both transcript and protein levels. Additionally, Mecp2-null mice showed an altered expression of different genes encoding factors with a role in the BBB structure and function, such as Cldn3, Cldn12, Mpdz, Jam2, and Aqp4. With this study, we provide the first evidence of impaired BBB integrity in RTT and highlight a potential new molecular hallmark of the disease that might open new perspectives for the setting-up of novel therapeutic strategies.

Lien vers le texte intégral (Open Access ou abonnement)

16. Reynolds M, Culican SM. Visual Autism. Children (Basel, Switzerland). 2023; 10(4).

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors. It affects approximately 2.2% of children. Both genetic and environmental risk factors have been identified for ASD. Visual comorbidities are relatively common among children with ASD. Between 20 and 44% of ASD children have visually significant refractive error, on-third have strabismus, and one-fifth have amblyopia. In addition, ASD is 30 times more common in children with congenital blindness. It is unknown whether the association of ASD with visual morbidity is causal, comorbid, or contributing. Structural and functional abnormalities have been identified in MRIs of ASD children, and ASD children have been noted to have aberrant eye tracking. ASD children with visually significant refractive errors and poor spectacle compliance (present in 30% of ASD children) offer the opportunity for investigation into how improved visual acuity influences ASD behaviors. In this review, we focus on what is known of the visual system, refractive surgery, and ASD.

Lien vers le texte intégral (Open Access ou abonnement)

17. Samadi SA, Biçak CA, Osman N, Abdalla B. Organizational Challenges in Healthcare Services Providers for Individuals with Autism Spectrum Disorder (ASD) Considering Personnel Turnover Rate. Brain sciences. 2023; 13(4).

The organizational strategy and environment of the healthcare systems influence the turnover rate among healthcare provider personnel. These critical factors have received scant attention in the literature and particularly in the healthcare systems of the Kurdistan Region of Iraq (KRI) as one low-income country with a lack of infrastructural health provision foundations. In this cross-sectional study with qualitative synthesis, the turnover rate of a population consisting of 115 (85 « 74% » rehabilitation and training personnel) members of a daycare center for individuals with autism spectrum disorder (ASD) during eight years in the city of Erbil was considered. The aim was to understand the organizational strategy and its impacts on the personnel turnover rate, particularly among healthcare providers. The analysis was conducted utilizing collective data over an eight-year period of service provisions. A qualitative methodological approach was adopted to understand the different aspects of turnover among the staff. The finding indicated a general turnover rate of 87% for the entire personnel and 72% for the rehabilitation and training service providers. This rate imposes considerable costs on the system. Interview analysis also yields supporting evidence for the desire of the staff to change jobs and the lack of understanding of the turnover among system authoritarians resulting in unpredictable changes and staff displacement. Further investigations are needed to understand different contributing factors to imposed or desired turnover rates among healthcare providers in KRI. The turnover over the years has imposed different challenges for the center where the data was collected and imposes unwanted negative impacts on healthcare organizations.

Lien vers le texte intégral (Open Access ou abonnement)

18. Shiloh G, Gal E, David A, Kohn E, Hazan A, Stolar O. The Relations between Repetitive Behaviors and Family Accommodation among Children with Autism: A Mixed-Methods Study. Children (Basel, Switzerland). 2023; 10(4).

Restricted and repetitive behaviors and interests (RRBI) are a significant component in diagnosing autism spectrum disorder (ASD). They often pose the main challenge in day-to-day functions for children with ASD and their families. Research addressing family accommodation behaviors (FAB) in the ASD population is scarce, and associations with the characteristics of the children’s behaviors are unclear. This sequential mixed-methods study assessed the correlation between RRBI and FAB within the ASD group to deepen the understanding of parents’ subjective experiences regarding their children’s RRBI. It included a quantitative phase with a follow-up qualitative study. A total of 29 parents of children with autism (5-13 yr) completed the study questionnaires; a total of 15 also were interviewed regarding their children’s RRBI and related FAB. We used the Repetitive Behavior Scale-Revised (RBS-R) to assess RRBI, and the Family Accommodation Scale (FAS-RRB) to assess FAS. In-depth interviews from phenomenological methodology were used in the qualitative phase. We found significant positive correlations between the RRBI and FAB overall and their subscores. Qualitative research supports these findings, adding descriptive examples of the accommodations families make to address the RRBI-related challenges. The results indicate relations between RRBI and FAB and the importance of practically addressing children with autism’s RRBI and their parents’ experiences. Both affect and are affected by the children’s behaviors.

Lien vers le texte intégral (Open Access ou abonnement)

19. Su X, Qu Y, Mu D. The Regulatory Network of METTL3 in the Nervous System: Diagnostic Biomarkers and Therapeutic Targets. Biomolecules. 2023; 13(4).

Methyltransferase-like 3 (METTL3) is a typical component of N6-methyladenosine writers that exhibits methyltransferase activity and deposits methyl groups on RNA. Currently, accumulating studies have demonstrated the involvement of METTL3 in the regulation of neuro-physiological and pathological events. However, no reviews have comprehensively summarized and analyzed the roles and mechanisms of METTL3 in these events. Herein, we are focused on reviewing the roles of METTL3 in regulating normal neurophysiological (Neurogenesis, Synaptic Plasticity and Glial Plasticity, Neurodevelopment, Learning and Memory,) and neuropathological (Autism Spectrum Disorder, Major Depressive Disorder, Neurodegenerative disorders, Brain Tumors, Brain Injuries, and Other Brain Disorders) events. Our review found that although the down-regulated levels of METTL3 function through different roles and mechanisms in the nervous system, it primarily inactivates neuro-physiological events and triggers or worsens neuropathological events. In addition, our review suggests that METTL3 could be used as a diagnostic biomarker and therapeutic target in the nervous system. Collectively, our review has provided an up-to-date research outline of METTL3 in the nervous system. In addition, the regulatory network for METTL3 in the nervous system has been mapped, which could provide directions for future research, biomarkers for clinical diagnosis, and targets for disease treatment. Furthermore, this review has provided a comprehensive view, which could improve our understanding of METTL3 functions in the nervous system.

Lien vers le texte intégral (Open Access ou abonnement)

20. Tempio A, Boulksibat A, Bardoni B, Delhaye S. Fragile X Syndrome as an interneuronopathy: a lesson for future studies and treatments. Frontiers in neuroscience. 2023; 17: 1171895.

Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability (ID) and a primary genetic cause of autism spectrum disorder (ASD). FXS arises from the silencing of the FMR1 gene causing the lack of translation of its encoded protein, the Fragile X Messenger RibonucleoProtein (FMRP), an RNA-binding protein involved in translational control and in RNA transport along dendrites. Although a large effort during the last 20  years has been made to investigate the cellular roles of FMRP, no effective and specific therapeutic intervention is available to treat FXS. Many studies revealed a role for FMRP in shaping sensory circuits during developmental critical periods to affect proper neurodevelopment. Dendritic spine stability, branching and density abnormalities are part of the developmental delay observed in various FXS brain areas. In particular, cortical neuronal networks in FXS are hyper-responsive and hyperexcitable, making these circuits highly synchronous. Overall, these data suggest that the excitatory/inhibitory (E/I) balance in FXS neuronal circuitry is altered. However, not much is known about how interneuron populations contribute to the unbalanced E/I ratio in FXS even if their abnormal functioning has an impact on the behavioral deficits of patients and animal models affected by neurodevelopmental disorders. We revise here the key literature concerning the role of interneurons in FXS not only with the purpose to better understand the pathophysiology of this disorder, but also to explore new possible therapeutic applications to treat FXS and other forms of ASD or ID. Indeed, for instance, the re-introduction of functional interneurons in the diseased brains has been proposed as a promising therapeutic approach for neurological and psychiatric disorders.

Lien vers le texte intégral (Open Access ou abonnement)

21. Warreman EB, Ester WA, Geurts HM, Vermeiren RR, Nooteboom LA. How do primary care providers and autistic adults want to improve their primary care? A Delphi-study. Autism : the international journal of research and practice. 2023: 13623613231172865.

Autistic adults often encounter different types of healthcare barriers. Because autistic adults also have an increased risk for health problems, the aim of this study was to evaluate barriers and to explore how primary care providers and autistic adults want to improve their primary healthcare. In this co-created study, semi-structured interviews with three autistic adults, two parents of autistic children and six care providers were performed to evaluate barriers in Dutch healthcare. Next, in the survey-study (using the Delphi-method including controlled feedback in three consecutive questionnaires), 21 autistic adults and 20 primary care providers rated the impact of barriers and the usefulness and feasibility of recommendations to improve primary healthcare. In the interviews, 20 barriers in Dutch healthcare for autistic people were found. In the survey-study, the primary care providers rated the negative impact of most barriers lower than the autistic adults. This survey-study resulted in 22 recommendations to improve primary healthcare focused on: primary care providers (including education in collaboration with autistic people), autistic adults (including improvement of preparation for general practitioner-appointments) and organization of general practice (including improvement of continuity in care). In conclusion, primary care providers seem to view healthcare barriers as less impactful than autistic adults. In this co-created study, recommendations to improve primary healthcare for autistic adults were identified, based on the needs of autistic adults and primary care providers. These recommendations provide a basis for primary care providers, autistic adults and their support network to start conversations about, for example, strategies to improve primary care providers’ knowledge, autistic adults’ preparation for a general practitioner-appointment and organization of primary care.

Lien vers le texte intégral (Open Access ou abonnement)

22. Wilczyński KM, Stasik A, Cichoń L, Auguściak-Duma A, Janas-Kozik M. Polymorphisms in Oxytocin and Vasopressin Receptor Genes as a Factor Shaping the Clinical Picture and the Risk of ASD in Males. Brain sciences. 2023; 13(4).

Autism spectrum disorders (ASD) are a heterogeneous group of disorders affecting virtually every population, regardless of their ethnic or socioeconomic background. Their pathogenesis is multifactorial, based on interactions between genetic and environmental factors. The key symptom of ASD are deficits in social communication, which are the basis of many difficulties in everyday functioning. The aim of the presented study was to analyze the clinical picture of social cognition deficits in boys with autism spectrum disorders and to relate its elements with the frequency of alleles of selected polymorphisms within the oxytocin receptor (OXTR) and vasopressin receptor 1A (AVPR1A) genes. The study included 58 boys with IQ > 90, who were divided into two groups based on a confirmed or excluded ASD diagnosis based on the DSM-5 and ICD-10 criteria and then using the ADOS-2 protocol. The results indicated that polymorphism rs10877969 (T) within the AVPR1a gene was the only one to show a statistically significant association with a higher risk of autism spectrum disorders and has an impact on clinical presentation in the ADOS-2 study, primarily in terms of the social affect subscale. Polymorphisms in the OXTR gene showed no significant association with ASD risk and severity of autistic traits in the ADOS-2 study. In the group of people with ASD and those who are neurotypical, the rs53572 (A) genotype in the OXTR gene significantly increased the severity of the clinical picture of social cognition disorders in reading mind in the eyes test (RMiE) and empathy quotient (EQ) studies.

Lien vers le texte intégral (Open Access ou abonnement)

23. Wong T, Falcomata TS, Barnett M. The Collateral Effects of Antecedent Exercise on Stereotypy and Other Nonstereotypic Behaviors Exhibited by Individuals with Autism Spectrum Disorder: A Systematic Review. Behavior analysis in practice. 2023; 16(2): 407-20.

The presence of stereotypy is one of the core features exhibited by individuals diagnosed with autism spectrum disorder (ASD). Stereotypy can interfere with academic engagement and become a major barrier to appropriate education and social development of individuals with ASD. Studies have shown that antecedent physical exercise can produce reductions in stereotypy and positive collateral effects. The purpose of the current systematic review was to examine the collateral effects of antecedent physical exercise on stereotypy and engagement in nonstereotypic behaviors. The findings suggest that individuals with ASD can benefit from incorporating antecedent physical exercise with regard to stereotypy and other positive collateral behaviors. Implications of the results and areas for further research are discussed.

Lien vers le texte intégral (Open Access ou abonnement)

24. Yang B, Wang M, Zhou W, Wang X, Chen S, Yuan LX, Dong GH. Edge-centric functional network analyses reveal disrupted network configuration in autism spectrum disorder. Journal of affective disorders. 2023.

BACKGROUND: Neuroscientific evidence suggests that the pathological symptoms associated with autism spectrum disorders (ASD) are not confined to a single brain region but involve networks of the brain on a larger spatial scale. Analyzing diagrams of edge-edge interactions could provide important perspectives on the organization and function of complex systems. METHODS: Resting-state fMRI data from 238 ASD patients and 311 healthy controls (HCs) were included in the current study. We used the thalamus as the mediating node to calculate the edge functional connectivity (eFC) of the brain network and compared the ASD subjects and HCs. RESULTS: Compared with the HCs, the ASD subjects exhibited abnormalities in the central node thalamus and four brain regions (amygdala, nucleus accumbens, pallidum and hippocampus), as well as in the eFC formed by the inferior frontal gyrus (IFG) (or middle temporal gyrus (MTG)). In addition, ASD subjects showed variable characteristics of the eFC between nodes in different networks. CONCLUSIONS: The changes in these brain regions may be due to the disturbance in the reward system, which leads to coherence in the instantaneous comovement of the functional connections formed by these brain regions in ASD. This notion also reveals a functional network feature between the cortical and subcortical regions in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

25. Zerihun T, Kinfe M, Koly KN, Abdurahman R, Girma F, Hanlon C, de Vries PJ, Hoekstra RA. Non-specialist delivery of the WHO Caregiver Skills Training Programme for children with developmental disabilities: Stakeholder perspectives about acceptability and feasibility in rural Ethiopia. Autism : the international journal of research and practice. 2023: 13623613231162155.

Children with developmental disabilities including autism who live in low- and middle-income countries have very limited access to care and intervention. The World Health Organization initiated the caregiver skills training programme to support families with children with developmental disabilities. In Ethiopia, contextual factors such as poverty, low literacy and stigma may affect the success of the programme. In this study, we aimed to find out if the caregiver skills training programme is feasible to deliver in rural Ethiopia and acceptable to caregivers and programme facilitators. We trained non-specialist providers to facilitate the programme. Caregivers and non-specialist facilitators were asked about their experiences in interviews and group discussions. Caregivers found the programme relevant to their lives and reported benefits of participation. Facilitators highlighted the skills they had acquired but also emphasised the importance of support from supervisors during the programme. They described that some caregiver skills training programme topics were difficult to teach caregivers. In particular, the idea of play between caregiver and child was unfamiliar to many caregivers. Lack of available toys made it difficult to practise some of the caregiver skills training programme exercises. Participants indicated that the home visits and group training programme components of the caregiver skills training were acceptable and feasible, but there were some practical barriers, such as transportation issues and lack of time for homework practice. These findings may have importance to non-specialist delivery of the caregiver skills training programme in other low-income countries.

Lien vers le texte intégral (Open Access ou abonnement)