Pubmed du 28/04/23

Pubmed du jour

1. Autism Spectrum Disorders and Cardiometabolic Disorders-is There a Connection?. Pediatric dentistry. 2023; 45(2): 89.

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2. Aldossari AA, Ansari MA, Nadeem A, Attia SM, Bakheet SA, Al-Ayadhi LY, Alanazi MM, Shahid M, Alwetaid MY, Hussein MH, Ahmad SF. Upregulation of Inflammatory Mediators in Peripheral Blood CD40(+) Cells in Children with Autism Spectrum Disorder. International journal of molecular sciences. 2023; 24(8).

Autism spectrum disorder (ASD) is a common and severe neurodevelopmental disorder in early childhood, defined as social and communication deficits and repetitive and stereotypic behaviours. The aetiology is unknown in most cases. However, several studies have identified immune dysregulation as potentially promoting ASD. Among the numerous immunological findings in ASD, reports of increased pro-inflammatory markers remain the most consistently observed. C-C chemokine receptor type 1 (CCR1) activation is pro-inflammatory in several neurological disorders. Previous evidence has implied that the expression of chemokine receptors, inflammatory mediators, and transcription factors play a pivotal role in several neuroinflammatory disorders. There have also been reports on the association between increased levels of proinflammatory cytokines and ASD. In this study, we aimed to investigate the possible involvement of CCR1, inflammatory mediators, and transcription factor expression in CD40(+) cells in ASD compared to typically developing controls (TDC). Flow cytometry analysis was used to determine the levels of CCR1-, IFN-γ-, T-box transcription factor (T-bet-), IL-17A-, retinoid-related orphan receptor gamma t (RORγt-), IL-22- and TNF-α-expressing CD40 cells in PBMCs in children with ASD and the TDC group. We further examined the mRNA and protein expression levels of CCR1 using real-time PCR and western blot analysis. Our results revealed that children with ASD had significantly increased numbers of CD40(+)CCR1(+), CD40(+)IFN-γ(+), CD40(+)T-bet(+), CD40(+)IL-17A(+), CD40(+)RORγt(+), CD4(+)IL-22(+), and CD40(+)TNF-α(+) cells compared with the TDC group. Furthermore, children with ASD had higher CCR1 mRNA and protein expression levels than those in the TDC group. These results indicate that CCR1, inflammatory mediators, and transcription factors expressed in CD40 cells play vital roles in disease progression.

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3. Al-Dossari AM, Al-Harbi LN, Al-Otaibi NM, Almubarak A, Almnaizel AT, Alshammari GM, Shamlan G, Alshatwi AA, El-Ansary A. The Potency of Goat Milk in Reducing the Induced Neurotoxic Effects of Valproic Acid in Rat Pups as a Rodent Model of Autism Spectrum Disorder. Metabolites. 2023; 13(4).

Autism spectrum disorder (ASD) is a progressively prevalent neurodevelopmental disorder with substantial clinical heterogeneity. Despite the considerable interest in dietary interventions, no consensus has been reached regarding the optimal nutritional therapy. The present study aimed to investigate the possible positive effect of goat’s milk (GM) compared to cow’s milk (CM) on ASD autistic features in a valproic acid (VPA; 600 mg/kg)-induced white albino rat model of autism. All tests were conducted on rats that were divided into four groups (n = 15/group): control with goat milk (GM) treatment, control with cow milk (CM) treatment, autistic with goat milk (GM) treatment, and autistic with cow milk treatment. The casein levels were also measured in GM and CM. Social behavior was assessed by three-chambered sociability to test social interaction after the intervention. After 15 days of intervention, selected biomarkers, such as glutathione (GSH), thiobarbituric acid reactive substance (TBARS), interleukin-6 (IL-6), neurotransmitter dopamine (DA), serotonin (5-hydroxytryptamine, 5-HT), and glutamate (GLU), were measured in blood serum and brain homogenates. The results showed a significant positive effect on social interaction in the VPA rat ASD model fed GM. Blood serum and brain samples showed a positive increase in TBARS in the VPA rat model fed GM, but brain and serum serotonin levels were lower in both VPA-GM and VPA-CM groups. Dopamine in serum was also lower in the VPA-CM group than in the VPA-GM group. IL-6 levels were slightly lower in the VPA-GM group than in the VPA-CM group. In comparison with cow’s milk, goat’s milk was effective in ameliorating the neurotoxic effects of VPA. Goat’s milk may be considered a suitable source of dairy for children diagnosed with ASD. Autistic children with allergies to cow’s milk could possibly convert to goat’s milk. Nevertheless, more in-depth studies and clinical trials are recommended.

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4. Alonazi M, Ben Bacha A, Alharbi MG, Khayyat AIA, Al-Ayadhi L, El-Ansary A. Bee Pollen and Probiotics’ Potential to Protect and Treat Intestinal Permeability in Propionic Acid-Induced Rodent Model of Autism. Metabolites. 2023; 13(4).

Rodent models may help investigations on the possible link between autism spectrum disorder (ASD) and gut microbiota since autistic patients frequently manifested gastrointestinal troubles as co-morbidities. Thirty young male rats were divided into five groups: Group 1 serves as control; Group 2, bee pollen and probiotic-treated; and Group 3, propionic acid (PPA)-induced rodent model of autism; Group 4 and Group 5, the protective and therapeutic groups were given bee pollen and probiotic combination treatment either before or after the neurotoxic dose of PPA, respectively. Serum occludin, zonulin, lipid peroxides (MDA), glutathione (GSH), glutathione-S-transferase (GST), glutathione peroxidase (GPX), catalase, and gut microbial composition were assessed in all investigated groups. Recorded data clearly indicated the marked elevation in serum occludin (1.23 ± 0.15 ng/mL) and zonulin (1.91 ± 0.13 ng/mL) levels as potent biomarkers of leaky gut in the PPA- treated rats while both were normalized to bee pollen/probiotic-treated rats. Similarly, the high significant decrease in catalase (3.55 ± 0.34 U/dL), GSH (39.68 ± 3.72 µg/mL), GST (29.85 ± 2.18 U/mL), and GPX (13.39 ± 1.54 U/mL) concomitant with a highly significant increase in MDA (3.41 ± 0.12 µmoles/mL) as a marker of oxidative stress was also observed in PPA-treated animals. Interestingly, combined bee pollen/probiotic treatments demonstrated remarkable amelioration of the five studied oxidative stress variables as well as the fecal microbial composition. Overall, our findings demonstrated a new approach to the beneficial use of bee pollen and probiotic combination as a therapeutic intervention strategy to relieve neurotoxic effects of PPA, a short-chain fatty acid linked to the pathoetiology of autism.

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5. Anggadiredja K, Fisheri Kurniati N, Kasai A, Hashimoto H. Decreased Expression of EP3 Receptor mRNA in the Brain of Mouse Model of Autism Spectrum Disorder. MicroRNA (Shariqah, United Arab Emirates). 2023.

BACKGROUND: Accumulating evidence has implicated the role of neuroinflammation in the pathology of autism spectrum disorder (ASD), a neurodevelopmental disorder. OBJECTIVES: To investigate the expression of prostaglandin EP3 (EP3) receptor mRNA in the brain of ASD mice model. METHODS: Pregnant mice were injected with valproic acid (VPA) 500 mg/kg intraperitoneally at 12.5 d gestation. The offspring were tested at the age of 5-6 weeks old for their social interaction behavior. Each mouse was assessed for prostaglandin EP3 receptor expression in the prefrontal cortical, hippocampal and cerebellar areas one day after the behavioral test. RESULTS: Compared to the naive, mice born to dams treated with VPA demonstrated a significantly shorter duration of sniffing behavior, a model of social interaction. Results further showed that the expression of EP3 receptor mRNA was significantly lower in all three brain regions of the mice born to VPA-treated dams. CONCLUSION: The present study provides further evidence of the relevance of the arachidonic acid cascade as an essential part of neuroinflammation in the pathology of ASD.

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6. Bağ Ö, Güney SA. Vaccine refusal risk factors among parents of children with autism spectrum disorders. The Turkish journal of pediatrics. 2023; 65(2): 218-26.

BACKGROUND: Vaccine refusal is a global trend and was announced as one of the top ten health threats in recent years. The rate of vaccine refusal (VR) among children with autism spectrum disorders (ASD) has also increased in parallel with the global trend but their vaccination behavior may differ from that of the normal population. This study aims to determine the VR rates among parents of children with ASD, to define the risk factors for developing VR, and to evaluate the parental concerns for childhood vaccinations in this susceptible population. METHODS: We conducted a 4-part survey questionnaire among parents of children with ASD, evaluating the vaccination status for both the child with ASD and their younger sibling. The vaccination uptake of the first child was accepted as the `baseline` behavior, while the following sibling`s uptake was suggested as the `current` behavior. The risk factors of VR were determined with logistic regression analysis. RESULTS: The study group included 110 parents of children with ASD (M/F:76/34) and their younger siblings (M/F:57/53). The rate of `baseline VR` was 12.7 % whereas the `current VR` was 40% (p=0.001). High socioeconomic status (relative risk [RR]: 4.4; 95% confidence interval [CI]: 1.01-16.6; p=0.04), using social media as the main source of information (RR: 7; 95% CI: 1.5-32; p= 0.01) and lack of regular well-child visits of the sibling (RR: 25; 95% CI 4.1-166; p=0.001) were determined as risk factors for VR. CONCLUSIONS: The vaccination behavior of parents changed after having a child with ASD, and thus, the younger siblings may constitute a risk group for VR. In clinical practice, pediatricians should be aware of this risk and evaluate the vaccination uptake of the younger siblings of children with ASD more carefully. Regular well-child visits and improving media literacy may be the key points to prevent VR in this susceptible population.

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7. Bryliński Ł, Kostelecka K, Woliński F, Duda P, Góra J, Granat M, Flieger J, Teresiński G, Buszewicz G, Sitarz R, Baj J. Aluminium in the Human Brain: Routes of Penetration, Toxicity, and Resulting Complications. International journal of molecular sciences. 2023; 24(8).

Aluminium (Al) is the most ubiquitous metal in the Earth’s crust. Even though its toxicity is well-documented, the role of Al in the pathogenesis of several neurological diseases remains debatable. To establish the basic framework for future studies, we review literature reports on Al toxicokinetics and its role in Alzheimer’s disease (AD), autism spectrum disorder (ASD), alcohol use disorder (AUD), multiple sclerosis (MS), Parkinson’s disease (PD), and dialysis encephalopathy (DE) from 1976 to 2022. Despite poor absorption via mucosa, the biggest amount of Al comes with food, drinking water, and inhalation. Vaccines introduce negligible amounts of Al, while the data on skin absorption (which might be linked with carcinogenesis) is limited and requires further investigation. In the above-mentioned diseases, the literature shows excessive Al accumulation in the central nervous system (AD, AUD, MS, PD, DE) and epidemiological links between greater Al exposition and their increased prevalence (AD, PD, DE). Moreover, the literature suggests that Al has the potential as a marker of disease (AD, PD) and beneficial results of Al chelator use (such as cognitive improvement in AD, AUD, MS, and DE cases).

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8. Curley K, Kotera Y. Qualitative Investigation into the Perception towards Compassionate Parenting among Parents of Autistic Children: Cross-Cultural Comparison between the UK and The Netherlands. Healthcare (Basel, Switzerland). 2023; 11(8).

Parenting a child with autism spectrum disorder is believed to present challenges that lead to increased levels of stress, as well as a reduction in the quality of the relationship between parent and child. This study aims to investigate parental perceptions toward a compassionate parenting style of parenting to better understand how this style may influence relationships and quality of life in parents. Parents from the United Kingdom (six parents) and the Netherlands (five parents) were invited take part in semi-structured interviews, whereby the data collected were subsequently analysed using thematic analysis. Data from both British and Dutch groups were overall similar to each other. Four themes were identified from the aggregated data: (a) « Parents believe compassionate parenting is important » (parents believed that compassion is an essential element of their parenting style and improves situational outcomes); (b) « Compassionate parenting de-escalates stressful situations » (compassionate parenting reduces stress and improves the quality of life); (c) « High pressure situations as a threat to practice compassion » (challenges and limitations to compassionate parenting style); and (d) « Greater public and professional awareness of autistic behaviours » (the general public and professional services often lack awareness to recognise autistic behaviour traits). Results are consistent with research examining the perceptions of parents of neurotypical children, in that a more compassionate approach to parenting is valued, as it is believed to create a greater connection with the child. Our findings inform researchers and educators as to what parents of children with ASD find useful, important, and worthwhile. Future research needs to investigate how compassionate parenting impacts autistic children’s quality of life.

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9. Du Y, Chen L, Yan MC, Wang YL, Zhong XL, Xv CX, Li YB, Cheng Y. Neurometabolite levels in the brains of patients with autism spectrum disorders: A meta-analysis of proton magnetic resonance spectroscopy studies (N = 1501). Molecular psychiatry. 2023.

Evidence suggests that neurometabolite alterations may be involved in the pathophysiology of autism spectrum disorders (ASDs). We performed a meta-analysis of proton magnetic resonance spectroscopy ((1)H-MRS) studies to examine the neurometabolite levels in the brains of patients with ASD. A systematic search of PubMed and Web of Science identified 54 studies for the meta-analysis. A random-effects meta-analysis demonstrated that compared with the healthy controls, patients with ASD had lower N-acetyl-aspartate-containing compound (NAA) and choline-containing compound (Cho) levels and NAA/(creatine-containing compound) Cr ratios in the gray matter and lower NAA and glutamate + glutamine (Glx) levels in the white matter. Furthermore, NAA and gamma-aminobutyric acid (GABA) levels, NAA/Cr ratios, and GABA/Cr ratios were significantly decreased in the frontal cortex of patients with ASD, whereas glutamate (Glu) levels were increased in the prefrontal cortex. Additionally, low NAA levels and GABA/Cr ratios in the temporal cortex, low NAA levels and NAA/Cr ratios in the parietal and dorsolateral prefrontal cortices, and low NAA levels in the cerebellum and occipital cortex were observed in patients with ASD. Meta-regression analysis revealed that age was positively associated with effect size in studies analyzing the levels of gray matter NAA and white matter Glx. Taken together, these results provide strong clinical evidence that neurometabolite alterations in specific brain regions are associated with ASD and age is a confounding factor for certain neurometabolite levels in patients with ASD.

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10. Efron D, Taylor K. Medicinal Cannabis for Paediatric Developmental, Behavioural and Mental Health Disorders. International journal of environmental research and public health. 2023; 20(8).

Parents of children with developmental, behavioural and mental health disorders are increasingly asking whether medicinal cannabis might be a therapeutic option for their child. This paper presents the current evidence for medicinal cannabis in this population. Preliminary evidence from open-label studies suggests the potential for medicinal cannabis to ameliorate some symptoms in children with autism spectrum disorder. However, only one double-blind placebo-controlled trial has been completed, with inconclusive findings. Synthetic, transdermal cannabidiol gel has demonstrated efficacy for reducing social avoidance in a sub-group of children with Fragile X syndrome. Studies of medicinal cannabis are planned or underway for children and/or adolescents with autism, intellectual disability, Tourette’s syndrome, anxiety, psychosis, anorexia nervosa and a number of specific neurodevelopmental syndromes. High quality evidence from double-blind placebo-controlled trials is needed to guide clinical practice.

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11. Fogarty MJ. Inhibitory Synaptic Influences on Developmental Motor Disorders. International journal of molecular sciences. 2023; 24(8).

During development, GABA and glycine play major trophic and synaptic roles in the establishment of the neuromotor system. In this review, we summarise the formation, function and maturation of GABAergic and glycinergic synapses within neuromotor circuits during development. We take special care to discuss the differences in limb and respiratory neuromotor control. We then investigate the influences that GABAergic and glycinergic neurotransmission has on two major developmental neuromotor disorders: Rett syndrome and spastic cerebral palsy. We present these two syndromes in order to contrast the approaches to disease mechanism and therapy. While both conditions have motor dysfunctions at their core, one condition Rett syndrome, despite having myriad symptoms, has scientists focused on the breathing abnormalities and their alleviation-to great clinical advances. By contrast, cerebral palsy remains a scientific quagmire or poor definitions, no widely adopted model and a lack of therapeutic focus. We conclude that the sheer abundance of diversity of inhibitory neurotransmitter targets should provide hope for intractable conditions, particularly those that exhibit broad spectra of dysfunction-such as spastic cerebral palsy and Rett syndrome.

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12. Friedman S, Noble R, Archer S, Gibson J, Hughes C. Respite and connection: Autistic adults’ reflections upon nature and well-being during the Covid-19 pandemic. Autism : the international journal of research and practice. 2023: 13623613231166462.

The Covid-19 pandemic and associated lockdowns provided opportunities to spend time in nature, with many people reporting that this benefitted their well-being. However, existing research from the pandemic period has focused on the way general populations experienced nature; less is known about how autistic people used nature to support their well-being during the pandemic. We created a survey that invited autistic adults living in the United Kingdom to reply to text box questions. A total of 127 people responded to our survey; we analysed their responses using a method called reflexive thematic analysis and developed themes based on patterns among all the responses. We developed two themes: respite in nature and connecting amid widespread disconnection. For some autistic adults during the pandemic, nature provided physical distance from others or from crowded homes, which helped them reduce their stress. In addition, some participants felt more psychologically connected to nature itself during the pandemic, while for others, nature served as a way of connecting with others during a potentially isolating time. These findings are important for autistic people and their families and carers who may want to seek out nature-based activities to support well-being in the wake of the pandemic.

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13. Gąssowska-Dobrowolska M, Czapski GA, Cieślik M, Zajdel K, Frontczak-Baniewicz M, Babiec L, Adamczyk A. Microtubule Cytoskeletal Network Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders. International journal of molecular sciences. 2023; 24(8).

Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder caused by loss-of-function mutations in the tumour suppressors TSC1/TSC2, both of which are negative regulators of the mammalian target of rapamycin (mTOR) kinase. Importantly, mTOR hyperactivity seems to be linked with the pathobiology of autism spectrum disorders (ASD). Recent studies suggest the potential involvement of microtubule (MT) network dysfunction in the neuropathology of « mTORopathies », including ASD. Cytoskeletal reorganization could be responsible for neuroplasticity disturbances in ASD individuals. Thus, the aim of this work was to study the effect of Tsc2 haploinsufficiency on the cytoskeletal pathology and disturbances in the proteostasis of the key cytoskeletal proteins in the brain of a TSC mouse model of ASD. Western-blot analysis indicated significant brain-structure-dependent abnormalities in the microtubule-associated protein Tau (MAP-Tau), and reduced MAP1B and neurofilament light (NF-L) protein level in 2-month-old male B6;129S4-Tsc2(tm1Djk)/J mice. Alongside, pathological irregularities in the ultrastructure of both MT and neurofilament (NFL) networks as well as swelling of the nerve endings were demonstrated. These changes in the level of key cytoskeletal proteins in the brain of the autistic-like TSC mice suggest the possible molecular mechanisms responsible for neuroplasticity alterations in the ASD brain.

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14. Girard D, Courchesne V, Cimon-Paquet C, Jacques C, Soulières I. Visual abilities and exploration behaviors as predictors of intelligence in autistic children from preschool to school age. Autism : the international journal of research and practice. 2023: 13623613231166189.

At the time of diagnosis, parents of autistic children frequently wonder what the future holds for their children in terms of intellectual development. It remains however difficult to answer this question at such a young age. Indeed, while early precursors of intelligence are well known for children following a typical development, these precursors remain to be identified for autistic children. Some theoretical models of intelligence suggest that perceptual abilities or behaviors, as seen early in autistic cognitive development, could be early indicators of intelligence. However, research examining the relation between early perceptual predictors and autistic intelligence over time is needed. This article is the first to consider a variety of early perceptual abilities and behaviors as precursors/predictors of intelligence at school age in autistic children. We showed that better performance in perceptual tasks at preschool age predicted better intellectual abilities measured later in autistic children. Importantly, our sample of autistic children represented the whole spectrum, including children with few to no spoken words, who are an important proportion of autistic preschoolers. While early perceptual abilities and behaviors may not substitute for a formal intellectual assessment, our results support that these indices may help estimate later intellectual level in autistic children. Perceptual abilities have the advantage to be easy to observe at preschool age and seem to fit the cognitive style of autistic children. Assessment methods could probably gain from including and focusing more on the perceptual strengths of autistic children.

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15. Justus SA, Mirjalili S, Powell PS, Duarte A. Neural reinstatement of context memory in adults with autism spectrum disorder. Cerebral cortex (New York, NY : 1991). 2023.

Autism spectrum disorder (ASD) is associated with episodic memory impairment. However, episodic memories include a variety of contextual details, and it is difficult to solely rely on behavioral data to assess how specifically (i.e. event-specific reinstatement) an event is remembered. We applied encoding-retrieval representational similarity (ERS) analysis to EEG data to assess event-specific ERS for object-context associations in a sample of 34 adults (17 with, 17 without ASD). Participants studied objects presented alongside 2 contextual features: scene/color, and attention was directed toward one object-context relationship. At retrieval, memory was assessed for the object and both contexts. Behavioral results revealed no group differences in item or context memory performance. ERS results revealed group temporal differences in reinstatement. Results may indicate differences in both encoding (i.e. fewer perceptual details) and retrieval (i.e. ineffectively skipping through memory fragments) in ASD and should be further investigated in studies modulating the perceptual detail required for memory decisions. Results highlight the utility of ERS as a methodology used to evaluate episodic reinstatement even in the absence of behavioral differences in memory performance.

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16. Larson EA. 5Minutes4Myself: Development of a Wellness Program for Caregivers of Children with Autism. Canadian journal of occupational therapy Revue canadienne d’ergotherapie. 2023: 84174231172036.

Background. Many caregivers of autistic children experience increased stress, and diminished health often due to the caregiving demands. Purpose. The project aim was to design a feasible and sustainable wellness program tailored to these caregivers’ lives. Methods. In this collaborative research-informed project, participants (N = 28) were mostly female, white, and well-educated. In focus groups, we delineated lifestyle issues, then designed, delivered and assessed an initial program with one cohort; and repeated this process with a second group. Findings. Focus group data were transcribed then coded qualitatively to inform following steps. Data analysis identified lifestyle issues key to program design, desired program elements, and after program delivery, affirmed elements and recommended changes. The team used meta-inferences to guide program revisions after each cohort. Implications. Caregivers viewed resulting 5Minutes4Myself program as filling a significant service gap; its hybrid design used in-person coaching and a habit-building app with mindfulness content to support lifestyle change.

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17. Levine MA, Chen H, Wodka EL, Caffo BS, Ewen JB. Autism and Hierarchical Models of Intelligence. Journal of autism and developmental disorders. 2023.

BACKGROUND: The Wechsler Intelligence Scale for Children (WISC) employs a hierarchical model of general intelligence in which index scores separate out different clinically-relevant aspects of intelligence; the test is designed such that index scores are statistically independent from one another within the normative sample. Whether or not the existing index scores meet the desired psychometric property of being statistically independent within autistic samples is unknown. METHOD: We conducted a factor analysis on WISC fifth edition (WISC-V) (N = 83) and WISC fourth edition (WISC-IV) (N = 131) subtest data in children with autism. We compared the data-driven exploratory factor analysis with the manual-derived index scores, including in a typically developing (TD) WISC-IV cohort (N = 209). RESULTS: The WISC-IV TD cohort showed the expected 1:1 relationship between empirically derived factors and manual-derived index scores. We observed less unique correlations between our data-driven factors and manualized IQ index scores in both ASD samples (WISC-IV and WISC-V). In particular, in both WISC-IV and -V, working memory (WM) influenced index scores in autistic individuals that do not load on WM in the normative sample. CONCLUSIONS: WISC index scores do not show the desired statistical independence within autistic samples, as judged against an empirically-derived exploratory factor analysis. In particular, within the currently used WISC-V version, WM influences multiple index scores.

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18. Li JH, Zhao JZ, Hua L, Hu XL, Tang LN, Yang T, He TY, Hu C, Yu XQ, Xiong TT, Wu DD, Hao Y. Efficacy of Children Neuropsychological and Behavioral Scale in Screening for Autism Spectrum Disorders through a Combination of Developmental Surveillance. Current medical science. 2023.

OBJECTIVE: This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016 (CNBS-R2016) for Autism Spectrum Disorder (ASD) screening in the presence of developmental surveillance. METHODS: All participants were evaluated by the CNBS-R2016 and Gesell Developmental Schedules (GDS). Spearman’s correlation coefficients and Kappa values were obtained. Taking GDS as a reference assessment, the performance of the CNBS-R2016 for detecting the developmental delays of children with ASD was analyzed with receiver operating characteristic (ROC) curves. The efficacy of the CNBS-R2016 to screen for ASD was explored by comparing Communication Warning Behavior with Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). RESULTS: In total, 150 children aged 12-42 months with ASD were enrolled. The developmental quotients of the CNBS-R2016 were correlated with those of the GDS (r=0.62-0.94). The CNBS-R2016 and GDS had good diagnostic agreement for developmental delays (Kappa=0.73-0.89), except for Fine Motor. There was a significant difference between the proportions of Fine Motor, delays detected by the CNBS-R2016 and GDS (86.0% vs. 77.3%). With GDS as a standard, the areas under the ROC curves of the CNBS-R2016 were above 0.95 for all the domains except Fine Motor, which was 0.70. In addition, the positive rate of ASD was 100.0% and 93.5% when the cut-off points of 7 and 12 in the Communication Warning Behavior subscale were used, respectively. CONCLUSION: The CNBS-R2016 performed well in developmental assessment and screening for children with ASD, especially by Communication Warning Behaviors subscale. Therefore, the CNBS-R2016 is worthy of clinical application in children with ASD in China.

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19. Lindly OJ, Henderson DE, Vining CB, Running Bear CL, Nozadi SS, Bia S. « Know Your Children, Who They Are, Their Weakness, and Their Strongest Point »: A Qualitative Study on Diné Parent Experiences Accessing Autism Services for Their Children. International journal of environmental research and public health. 2023; 20(8).

BACKGROUND AND OBJECTIVE: Marked inequities in access to autism services and related health outcomes persist for U.S. children, undermining broader initiatives to advance the population’s health. At the intersection of culture, poverty, and ruralness little remains known about autism in many Indigenous communities. This qualitative study on the lived experiences of Navajo (Diné) parents raising a child with autism sought to identify factors affecting access to services. METHODS: A Diné researcher conducted in-depth interviews with 15 Diné parents of children with autism living in or around the Navajo Nation. A directed content analysis approach was used to identify themes, subthemes, and connections between themes. RESULTS: Twelve overarching themes emerged on Diné parents’ experiences accessing autism diagnostic and treatment services, as well as ways access to autism services can be improved. The following themes were related to diagnosis: the diagnostic process was often emotionally fraught; long wait times of up to years for diagnostic services were commonplace; limited clinician training and cultural humility impeded access to diagnostic services; and adequate health insurance, Indian Health Service referrals, care coordination, financial aid for travel, and efficient evaluation facilitated diagnosis. Themes on treatment access were as follows: parent perceptions of the extent to which an autism service helped their child affected access; social support helped parents to access treatment; obtaining referrals and care coordination influenced treatment access; treatment costs affected access; and service availability and geographic proximity impacted treatment access. Themes on ways to improve access to autism services were as follows: greater autism awareness is needed; autism-focused support groups may be helpful; and increased availability and quality of autism services across and around the Navajo Nation is paramount. CONCLUSIONS: Diné parents’ access to autism services was dynamically affected by sociocultural factors that must be addressed in future health equity-oriented initiatives.

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20. Mayerle M, Riesgo R, Gregory L, Borges VMS, Sleifer P. Mismatch Negativity in Children and Adolescents with Autism Spectrum Disorder. International archives of otorhinolaryngology. 2023; 27(2): e218-e25.

Introduction  Individuals with autism spectrum disorder (ASD) have abnormalities in auditory perception and sensitivity. The mismatch negativity (MMN) component of the evoked potential demonstrates a brain detection response to an auditory change due to memory, and enables the identification of changes in the auditory system. Objective  To analyze MMN responses in children and adolescents with ASD and compare them with those of a control group. Methods  Cross-sectional and comparative study. The sample was composed of 68 children and adolescents, divided into study group (SG), which contained those diagnosed with ASD, and the control group (CG), which contained those with typical development, normal hearing thresholds, and without hearing complaints. All participants were submitted to peripheral and central electrophysiological auditory evaluations. For the electrophysiological auditory evaluation and MMN recording, the electrodes were fixed in the following positions: Fz (active electrode), M1 and M2 (reference electrodes), and on the forehead (ground electrode). Auditory stimuli were presented in both ears simultaneously, with a frequency of 1,000 Hz for the frequent stimulus, and of 2,000 Hz for the rare stimulus, in an intensity of 80 dBNA. Results  Latency and amplitude values were increased in the SG, with a statistically significant difference in comparison with the CG. In the MMN analysis, there was no statistically significant difference in the comparison between right and left ears and between genders. Conclusion  Children and adolescents with ASD had higher latency and amplitude values in the MMN component than the individuals in the CG.

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21. Mendes SL, Pinaya WHL, Pan PM, Jackowski AP, Bressan RA, Sato JR. Generalizability of 3D CNN models for age estimation in diverse youth populations using structural MRI. Scientific reports. 2023; 13(1): 6886.

Recently, several studies have investigated the neurodevelopment of psychiatric disorders using brain data acquired via structural magnetic resonance imaging (sMRI). These analyses have shown the potential of sMRI data to provide a relatively precise characterization of brain structural biomarkers. Despite these advances, a relatively unexplored question is how reliable and consistent a model is when assessing subjects from other independent datasets. In this study, we investigate the performance and generalizability of the same model architecture trained from distinct datasets comprising youths in diverse stages of neurodevelopment and with different mental health conditions. We employed models with the same 3D convolutional neural network (CNN) architecture to assess autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), brain age, and a measure of dimensional psychopathology, the Child Behavior Checklist (CBCL) total score. The investigated datasets include the Autism Brain Imaging Data Exchange II (ABIDE-II, N = 580), Attention Deficit Hyperactivity Disorder (ADHD-200, N = 922), Brazilian High-Risk Cohort Study (BHRCS, N = 737), and Adolescent Brain Cognitive Development (ABCD, N = 11,031). Models’ performance and interpretability were assessed within each dataset (for diagnosis tasks) and inter-datasets (for age estimation). Despite the demographic and phenotypic differences of the subjects, all models presented significant estimations for age (p value < 0.001) within and between datasets. In addition, most models showed a moderate to high correlation in age estimation. The results, including the models' brain regions of interest (ROI), were analyzed and discussed in light of the youth neurodevelopmental structural changes. Among other interesting discoveries, we found that less confounded training datasets produce models with higher generalization capacity.

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22. Mesleh A, Ehtewish H, de la Fuente A, Al-Shamari H, Ghazal I, Al-Faraj F, Al-Shaban F, Abdesselem HB, Emara M, Alajez NM, Arredouani A, Decock J, Albagha O, Stanton LW, Abdulla SA, El-Agnaf OMA. Blood Proteomics Analysis Reveals Potential Biomarkers and Convergent Dysregulated Pathways in Autism Spectrum Disorder: A Pilot Study. International journal of molecular sciences. 2023; 24(8).

Autism spectrum disorder (ASD) is an umbrella term that encompasses several disabling neurodevelopmental conditions. These conditions are characterized by impaired manifestation in social and communication skills with repetitive and restrictive behaviors or interests. Thus far, there are no approved biomarkers for ASD screening and diagnosis; also, the current diagnosis depends heavily on a physician’s assessment and family’s awareness of ASD symptoms. Identifying blood proteomic biomarkers and performing deep blood proteome profiling could highlight common underlying dysfunctions between cases of ASD, given its heterogeneous nature, thus laying the foundation for large-scale blood-based biomarker discovery studies. This study measured the expression of 1196 serum proteins using proximity extension assay (PEA) technology. The screened serum samples included ASD cases (n = 91) and healthy controls (n = 30) between 6 and 15 years of age. Our findings revealed 251 differentially expressed proteins between ASD and healthy controls, of which 237 proteins were significantly upregulated and 14 proteins were significantly downregulated. Machine learning analysis identified 15 proteins that could be biomarkers for ASD with an area under the curve (AUC) = 0.876 using support vector machine (SVM). Gene Ontology (GO) analysis of the top differentially expressed proteins (TopDE) and weighted gene co-expression analysis (WGCNA) revealed dysregulation of SNARE vesicular transport and ErbB pathways in ASD cases. Furthermore, correlation analysis showed that proteins from those pathways correlate with ASD severity. Further validation and verification of the identified biomarkers and pathways are warranted.

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23. Michel L, Ricou C, Bonnet-Brilhault F, Houy-Durand E, Latinus M. Sounds Pleasantness Ratings in Autism: Interaction Between Social Information and Acoustical Noise Level. Journal of autism and developmental disorders. 2023.

A lack of response to voices, and a great interest for music are part of the behavioral expressions, commonly (self-)reported in Autism Spectrum Disorder (ASD). These atypical interests for vocal and musical sounds could be attributable to different levels of acoustical noise, quantified in the harmonic-to-noise ratio (HNR). No previous study has investigated explicit auditory pleasantness in ASD comparing vocal and non-vocal sounds, in relation to acoustic noise level. The aim of this study is to objectively evaluate auditory pleasantness. 16 adults on the autism spectrum and 16 neuro-typical (NT) matched adults rated the likeability of vocal and non-vocal sounds, with varying harmonic-to-noise ratio levels. A group by category interaction in pleasantness judgements revealed that participants on the autism spectrum judged vocal sounds as less pleasant than non-vocal sounds; an effect not found for NT participants. A category by HNR level interaction revealed that participants of both groups rated sounds with a high HNR as more pleasant for non-vocal sounds. A significant group by HNR interaction revealed that people on the autism spectrum tended to judge as less pleasant sounds with high HNR and more pleasant those with low HNR than NT participants. Acoustical noise level of sounds alone does not appear to explain atypical interest for voices and greater interest in music in ASD.

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24. Miscusi M, Trungu S, Ricciardi L, Forcato S, Piazza A, Ramieri A, Raco A. Stand-Alone Oblique Lumbar Interbody Fusion (OLIF) for the Treatment of Adjacent Segment Disease (ASD) after Previous Posterior Lumbar Fusion: Clinical and Radiological Outcomes and Comparison with Posterior Revision Surgery. Journal of clinical medicine. 2023; 12(8).

Background: Radiological evidence of adjacent segment disease (ASD) has been reported to have a prevalence of more than 30% and several risk factors have been reported. The aim of this study is to evaluate the clinical and radiological outcomes of patients with symptomatic ASD treated with stand-alone OLIF and compare results with a posterior revision surgery cohort. Methods: This is a retrospective case-control study. Clinical-patient-reported outcomes were obtained at preoperative, postoperative and final follow-up visits using the Short Form (SF-36) scale, the Oswestry Disability Index (ODI) and the visual analog scale (VAS). Radiological measures include lumbar lordosis (LL), segmental lordosis (SL), pelvic incidence-lumbar lordosis (PI-LL) mismatch, segmental coronal Cobb angle and intervertebral disc height (DH). The data are compared with a retrospective series of patients that underwent a posterior revision surgery for ASD. Results: Twenty-eight patients in the OLIF group and 25 patients in the posterior group meet inclusion criteria. The mean ages at the time of the surgery are 65.1 years and 67.5, respectively. The mean follow-up time is 36.1 months (range of 14-56). The clinical outcomes significantly improve from preoperative values from the surgery in both groups. The radiological parameters are significantly improved postoperatively and were maintained at the last follow-up in both groups. A statistically significant difference is observed between the two groups for minor complication rate, length of surgery, blood loss and DH restoration. Conclusions: Stand-alone OLIF is an effective and safe technique with low morbidity and complication rates for the treatment of selected patients with symptomatic ASD following a previous lumbar fusion.

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25. Osredkar J, Baškovič B, Finderle P, Bobrowska-Korczak B, Gątarek P, Rosiak A, Giebułtowicz J, Vrhovšek MJ, Kałużna-Czaplińska J. Relationship between Excreted Uremic Toxins and Degree of Disorder of Children with ASD. International journal of molecular sciences. 2023; 24(8).

Autism spectrum disorder (ASD) is a complex developmental disorder in which communication and behavior are affected. A number of studies have investigated potential biomarkers, including uremic toxins. The aim of our study was to determine uremic toxins in the urine of children with ASD (143) and compare the results with healthy children (48). Uremic toxins were determined with a validated high-performance liquid chromatography coupled to mass spectrometry (LC-MS/MS) method. We observed higher levels of p-cresyl sulphate (pCS) and indoxyl sulphate (IS) in the ASD group compared to the controls. Moreover, the toxin levels of trimethylamine N-oxide (TMAO), symmetric dimethylarginine (SDMA), and asymmetric dimethylarginine (ADMA) were lower in ASD patients. Similarly, for pCS and IS in children classified, according to the intensity of their symptoms, into mild, moderate, and severe, elevated levels of these compounds were observed. For mild severity of the disorder, elevated levels of TMAO and comparable levels of SDMA and ADMA for ASD children as compared to the controls were observed in the urine. For moderate severity of ASD, significantly elevated levels of TMAO but reduced levels of SDMA and ADMA were observed in the urine of ASD children as compared to the controls. When the results obtained for severe ASD severity were considered, reduced levels of TMAO and comparable levels of SDMA and ADMA were observed in ASD children.

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26. Ren P, Bi Q, Pang W, Wang M, Zhou Q, Ye X, Li L, Xiao L. Stratifying ASD and characterizing the functional connectivity of subtypes in resting-state fMRI. Behavioural brain research. 2023: 114458.

BACKGROUND: Although stratifying autism spectrum disorder (ASD) into different subtypes is a common effort in the research field, few papers have characterized the functional connectivity alterations of ASD subgroups classified by their clinical presentations. METHODS: This is a case-control rs-fMRI study, based on large samples of open database (Autism Brain Imaging Data Exchange, ABIDE). The rs-MRI data from n=415 ASD patients (males n=357), and n=574 typical development (TD) controls (males n=410) were included. Clinical features of ASD were extracted and classified using data from each patient’s Autism Diagnostic Interview-Revised (ADI-R) evaluation. Each subtype of ASD was characterized by local functional connectivity using regional homogeneity (ReHo) for assessment, remote functional connectivity using voxel-mirrored homotopic connectivity (VMHC) for assessment, the whole-brain functional connectivity, and graph theoretical features. These identified imaging properties from each subtype were integrated to create a machine learning model for classifying ASD patients into the subtypes based on their rs-fMRI data, and an independent dataset was used to validate the model. RESULTS: All ASD participants were classified into Cluster-1 (patients with more severe impairment) and Cluster-2 (patients with moderate impairment) according to the dimensional scores of ADI-R. When compared to the TD group, Cluster-1 demonstrated increased local connection and decreased remote connectivity, and widespread hyper- and hypo-connectivity variations in the whole-brain functional connectivity. Cluster-2 was quite similar to the TD group in both local and remote connectivity. But at the level of whole-brain functional connectivity, the MCC-related connections were specifically impaired in Cluster-2. These properties of functional connectivity were fused to build a machine learning model, which achieved ~75% for identifying ASD subtypes (Cluster-1 accuracy = 81.75%; Cluster-2 accuracy = 76.48%). CONCLUSIONS: The stratification of ASD by clinical presentations can help to minimize disease heterogeneity and highlight the distinguished properties of brain connectivity in ASD subtypes.

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27. Saeliw T, Kanlayaprasit S, Thongkorn S, Songsritaya K, Sanannam B, Sae-Lee C, Jindatip D, Hu VW, Sarachana T. Epigenetic Gene-Regulatory Loci in Alu Elements Associated with Autism Susceptibility in the Prefrontal Cortex of ASD. International journal of molecular sciences. 2023; 24(8).

Alu elements are transposable elements that can influence gene regulation through several mechanisms; nevertheless, it remains unclear whether dysregulation of Alu elements contributes to the neuropathology of autism spectrum disorder (ASD). In this study, we characterized transposable element expression profiles and their sequence characteristics in the prefrontal cortex tissues of ASD and unaffected individuals using RNA-sequencing data. Our results showed that most of the differentially expressed transposable elements belong to the Alu family, with 659 loci of Alu elements corresponding to 456 differentially expressed genes in the prefrontal cortex of ASD individuals. We predicted cis- and trans-regulation of Alu elements to host/distant genes by conducting correlation analyses. The expression level of Alu elements correlated significantly with 133 host genes (cis-regulation, adjusted p < 0.05) associated with ASD as well as the cell survival and cell death of neuronal cells. Transcription factor binding sites in the promoter regions of differentially expressed Alu elements are conserved and associated with autism candidate genes, including RORA. COBRA analyses of postmortem brain tissues showed significant hypomethylation in global methylation analyses of Alu elements in ASD subphenotypes as well as DNA methylation of Alu elements located near the RNF-135 gene (p < 0.05). In addition, we found that neuronal cell density, which was significantly increased (p = 0.042), correlated with the expression of genes associated with Alu elements in the prefrontal cortex of ASD. Finally, we determined a relationship between these findings and the ASD severity (i.e., ADI-R scores) of individuals with ASD. Our findings provide a better understanding of the impact of Alu elements on gene regulation and molecular neuropathology in the brain tissues of ASD individuals, which deserves further investigation.

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28. Sandoval-Talamantes AK, Mori M, Santos-Simarro F, García-Miñaur S, Mansilla E, Tenorio JA, Peña C, Adan C, Fernández-Elvira M, Rueda I, Lapunzina P, Nevado J. Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital. Genes. 2023; 14(4).

Autism spectrum disorders (ASD) comprise a group of neurodevelopmental disorders (NDD) characterized by deficits in communication and social interaction, as well as repetitive and restrictive behaviors, etc. The genetic implications of ASD have been widely documented, and numerous genes have been associated with it. The use of chromosomal microarray analysis (CMA) has proven to be a rapid and effective method for detecting both small and large deletions and duplications associated with ASD. In this article, we present the implementation of CMA as a first-tier test in our clinical laboratory for patients with primary ASD over a prospective period of four years. The cohort was composed of 212 individuals over 3 years of age, who met DSM-5 diagnostic criteria for ASD. The use of a customized array-CGH (comparative genomic hybridization) design (KaryoArray(®)) found 99 individuals (45.20%) with copy number variants (CNVs); 34 of them carried deletions (34.34%) and 65 duplications (65.65%). A total of 28 of 212 patients had pathogenic or likely pathogenic CNVs, representing approximately 13% of the cohort. In turn, 28 out of 212 (approximately 12%) had variants of uncertain clinical significance (VUS). Our findings involve clinically significant CNVs, known to cause ASD (syndromic and non-syndromic), and other CNVs previously related to other comorbidities such as epilepsy or intellectual disability (ID). Lastly, we observed new rearrangements that will enhance the information available and the collection of genes associated with this disorder. Our data also highlight that CMA could be very useful in diagnosing patients with essential/primary autism, and demonstrate the existence of substantial genetic and clinical heterogeneity in non-syndromic ASD individuals, underscoring the continued challenge for genetic laboratories in terms of its molecular diagnosis.

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29. Senarathne UD, Indika NR, Jezela-Stanek A, Ciara E, Frye RE, Chen C, Stepien KM. Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes. 2023; 14(4).

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders characterized by impaired social interaction, limited communication skills, and restrictive and repetitive behaviours. The pathophysiology of ASD is multifactorial and includes genetic, epigenetic, and environmental factors, whereas a causal relationship has been described between ASD and inherited metabolic disorders (IMDs). This review describes biochemical, genetic, and clinical approaches to investigating IMDs associated with ASD. The biochemical work-up includes body fluid analysis to confirm general metabolic and/or lysosomal storage diseases, while the advances and applications of genomic testing technology would assist with identifying molecular defects. An IMD is considered likely underlying pathophysiology in ASD patients with suggestive clinical symptoms and multiorgan involvement, of which early recognition and treatment increase their likelihood of achieving optimal care and a better quality of life.

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30. Sourander A, Silwal S, Surcel HM, Hinkka-Yli-Salomäki S, Upadhyaya S, McKeague IW, Cheslack-Postava K, Brown AS. Maternal Serum Vitamin B12 during Pregnancy and Offspring Autism Spectrum Disorder. Nutrients. 2023; 15(8).

This study examined the association between maternal serum vitamin B12 levels during early pregnancy and offspring autism spectrum disorders (ASD) and subtypes. Based on a Finnish national birth cohort, case offspring (n = 1558) born in 1987-2007 and diagnosed with ASD by 2015 were matched with one control on date of birth, sex and place of birth. Maternal vitamin B12 levels were measured during first and early second trimesters of pregnancy. High maternal vitamin B12 levels (≥81th percentile) was associated with increased risk for offspring childhood autism, adjusted odds ratio, 1.59, 95% confidence interval 1.06-2.41 (p = 0.026). No significant associations were observed between maternal vitamin B12 levels and offspring Asperger’s or pervasive developmental disorder/NOS.

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31. Strathearn L, Momany A, Kovács E, Guiler W, Ladd-Acosta C. The Intersection of Genome, Epigenome and Social Experience in Autism Spectrum Disorder: Exploring Modifiable Pathways for Intervention. Neurobiology of learning and memory. 2023: 107761.

The number of children diagnosed with autism spectrum disorder (ASD) has increased substantially over the past two decades. Current research suggests that both genetic and environmental risk factors are involved in the etiology of ASD. The goal of this paper is to examine how one specific environmental factor, early social experience, may be correlated with DNA methylation (DNAm) changes in genes associated with ASD. We present an innovative model which proposes that polygenic risk and changes in DNAm due to social experience may both contribute to the symptoms of ASD. Previous research on genetic and environmental factors implicated in the etiology of ASD will be reviewed, with an emphasis on the oxytocin receptor gene, which may be epigenetically altered by early social experience, and which plays a crucial role in social and cognitive development. Identifying an environmental risk factor for ASD (e.g., social experience) that could be modified via early intervention and which results in epigenetic (DNAm) changes, could transform our understanding of this condition, facilitate earlier identification of ASD, and guide early intervention efforts.

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32. Yin H, Wang Z, Liu J, Li Y, Liu L, Huang P, Wang W, Shan Z, Sun R, Shen J, Duan L. Dysregulation of immune and metabolism pathways in maternal immune activation induces an increased risk of autism spectrum disorders. Life sciences. 2023; 324: 121734.

AIMS: Maternal immune activation (MIA) via infection during pregnancy is known to be an environmental risk factor for neurodevelopmental disorders and the development of autism spectrum disorders (ASD) in the offspring, but it still remains elusive that the molecular relevance between infection-induced abnormal neurodevelopmental events and an increased risk for ASD development. MAIN METHODS: Fully considering the extremely high genetic heterogeneity of ASD and the universality of risk-gene with minimal effect-sizes, the gene and pathway-based association analysis was performed with the transcriptomic and DNA methylation landscapes of temporal human embryonic brain development and ASD, and the time-course transcriptional profiling of MIA. We conducted the transcriptional profiling of mouse abnormal neurodevelopment two days following induced MIA via LPS injection at E10.5. KEY FINDINGS: A novel evidence was proved that illustrated altering four immune and metabolism-related risk pathways, including starch and sucrose metabolism, ribosome, protein processing in endoplasmic reticulum, and retrograde endocannabinoid signaling pathway, which were prominent involvement in the process of MIA regulating abnormal fetal brain development to induce an increased risk of ASD. Here, we have observed that almost all key genes within these risk pathways are significantly differentially expressed at embryonic days (E) 10.5-12.5, which is considered to be the optimal coincidence window of mouse embryonic brain development to study the intimate association between MIA and ASD using mouse animal models. SIGNIFICANCE: There search establishes that MIA causes dysregulation of immune and metabolic pathways, which leads to abnormal embryonic neurodevelopment, thus promoting development of ASD symptoms in offspring.

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33. Yon-Hernández JA, Canal-Bedia R, Wojcik DZ, García-García L, Fernández-Álvarez C, Palacio-Duque S, Franco-Martín MA. Executive functions in daily living skills: A study in adults with autism spectrum disorder. Frontiers in psychology. 2023; 14: 1109561.

INTRODUCTION: Adults with autism and adults with schizophrenia show difficulties in adaptive skills, especially those related to daily functioning. Some studies suggest that adaptive skills are associated with deficits in executive functions (EF), while others indicate that intelligence quotient (IQ) might also play a role. Literature suggests that autistic symptoms further affect adaptive skills. The interest of the current study, therefore, was to explore to what extent IQ, EFs as well as core autistic symptoms predict adaptive skills. METHODS: To do this, 25 controls, 24 adults with autism, and 12 with schizophrenia were assessed on IQ (Wechsler Adult Intelligence Scale), and executive functioning. The EF was measured with neuropsychological tasks (inhibition, updating, and task switching) and with the Dysexecutive-Spanish Questionnaire (DEX-Sp) which assessed everyday life EF problems. Core ASD symptoms were measured using the Autism Diagnostic Observation Schedule, the Autism Spectrum Quotient-Short version (AQ-S), and the Repetitive Behavior Questionnaire – 3 (RBQ-3). RESULTS: The results indicated EF difficulties in both, autism and schizophrenia. The IQ explained a high percentage of the variance found in adaptive skills, but only in the autism group. We can conclude, therefore, that high IQ is associated with low adaptive skills levels and EFs affect adaptive functioning in people with autism; however, this does not explain the difficulties in adaptive functioning in the schizophrenia group. Core features of autism assessed with self-report questionnaires (but not the ADOS-2) predicted low scores on the adaptive skills, only in the autism group. DISCUSSION: Both EF measures predicted adaptive skills scores in autism, but not in schizophrenia. Our results suggest that different factors affect the adaptive functioning in each disorder. For instance, the EFs should be a central focus for improvement, especially for individuals with autism.

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