Pubmed du 27/03/22

Pubmed du jour

1. Ashikin MN, Norazlin KN, Juriza I. The prevalence of Autism Spectrum Disorder in Down Syndrome children attending the Child Development Centre in Universiti Kebangsaan Malaysia Medical Centre. The Medical journal of Malaysia. 2022; 77(2): 137-42.

INTRODUCTION: The main objective of this study was to determine the prevalence of Autism Spectrum Disorder (ASD) in Down Syndrome (DS) children attending the DS clinic at Child Development Centre Universiti Kebangsaan Malaysia Medical Centre (CDC-UKMMC) and to assess the appropriateness of using an M-CHAT as an ASD screener in this population. We traced the karyotype results of our study population from their medical record and compared this to study participant with a dual diagnosis of Down Syndrome- Autism Spectrum Disorder (DS-ASD). Lastly, we assessed the awareness among parents attending our DS follow up clinic regarding the possibility of an ASD diagnosis in DS children. MATERIALS AND METHODS: This a single-centre cross-sectional study among DS children aged 18-60 months who attend the DS follow up clinic in UKMMC. Overall, 24 children were recruited to our study. The accompanying parent was given the Modified Checklist for Autism in Toddlers (M-CHAT) questionnaire and a data collection sheet prior to their consultation. The chromosomal study was traced from their medical case notes. Children that were eligible for the study had their development assessed using the tool Schedule of Growing Skills II. The diagnosis of ASD was determined by the attending paediatrician using The Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) criteria. RESULTS: The prevalence of dual diagnoses DS-ASD in our study population was 4.2%. Using M-CHAT as a screener, 8 children failed the M-CHAT, of whom only one was diagnosed with ASD. None of the children that passed the MCHAT was diagnosed with ASD. Only 17 chromosomal study results were available for analysis, 2 children had mosaic DS whereas the remaining was caused by non-disjunction; the only DS-ASD patient had non-disjunction. Regarding parental awareness of dual diagnoses of ASD and DS, about 60% of the parents attending UKMMC clinic were aware of the possibility of ASD-DS diagnosis. CONCLUSIONS: Our results suggest that ASD prevalence in our DS study population is consistent with those previously reported, and that paediatricians managing DS children should be aware of the dual diagnoses of ASD and DS when managing these patients. Even though, we are unable to make a definitive conclusion regarding the use of M-CHAT in this population of children due to the very small sample size, possibly a multi-centre research in the future may help elucidate this issue.

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2. Georgopoulos MA, Brewer N, Lucas CA, Young RL. Speed and accuracy of emotion recognition in autistic adults: The role of stimulus type, response format, and emotion. Autism research : official journal of the International Society for Autism Research. 2022.

Emotion recognition difficulties are considered to contribute to social-communicative problems for autistic individuals. Prior research has been dominated by a focus on forced-choice recognition response accuracy for static face presentations of basic emotions, often involving small samples. Using free-report and multiple-choice response formats, we compared emotion recognition in IQ-matched autistic (N = 63) and nonautistic (N = 67) adult samples using 12 face emotion stimuli presented in three different stimulus formats (static, dynamic, social) that varied the degree of accompanying contextual information. Percent agreement with normative recognition responses (usually labeled « recognition accuracy ») was slightly lower for autistic adults. Both groups displayed marked inter-individual variability and, although there was considerable overlap between groups, a very small subset of autistic individuals recorded lower percent agreement than any of the nonautistic sample. Overall, autistic individuals were significantly slower to respond and less confident. Although stimulus type, response format, and emotion affected percent agreement, latency and confidence, their interactions with group were nonsignificant and the associated effect sizes extremely small. The findings challenge notions that autistic adults have core deficits in emotion recognition and are more likely than nonautistic adults to be overwhelmed by increasingly dynamic or complex emotion stimuli and to experience difficulties recognizing specific emotions. Suggested research priorities include clarifying whether longer recognition latencies reflect fundamental processing limitations or adjustable strategic influences, probing age-related changes in emotion recognition across adulthood, and identifying the links between difficulties highlighted by traditional emotion recognition paradigms and real-world social functioning. LAY SUMMARY: It is generally considered that autistic individuals are less accurate than nonautistic individuals at recognizing other people’s facial emotions. Using a wide array of emotions presented in various contexts, this study suggests that autistic individuals are, on average, only slightly less accurate but at the same time somewhat slower when classifying others’ emotions. However, there was considerable overlap between the two groups, and great variability between individuals. The differences between groups prevailed regardless of how stimuli were presented, the response required or the particular emotion.

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3. Hauschild KM, Pomales-Ramos A, Strauss MS. Object label and category knowledge among toddlers at risk for autism spectrum disorder: An application of the visual array task. Infant behavior & development. 2022; 67: 101705.

Individuals diagnosed with autism spectrum disorder (ASD) demonstrate atypical development of receptive language and object category knowledge. Yet, little is known about the emerging relation between these two competencies in this population. The present study utilized a gaze-based paradigm, the visual array task (VAT), to examine the relation between object label and object category knowledge in a sample of toddlers at heightened genetic risk for developing ASD. Eighty-eight toddlers with at least one typically developing older sibling (low-risk; LR) or one older sibling diagnosed with ASD (high-risk; HR) completed the VAT at 17 (LR n = 20; HR n = 27) and/or 25 months of age (LR n = 42; HR n = 22). Results indicated that the VAT was both a sensitive measure of receptive vocabulary as well as capable of reflecting gains in category knowledge for toddlers at genetic risk of developing ASD. Notably, an early emerging difference in the relation between target label knowledge and category knowledge for the groups was observed at 17 months of age but dissipated by 25 months of age. This suggests that while the link between receptive vocabulary and category knowledge may develop earlier in LR groups, HR groups may potentially catch up by the second year of life. Therefore, it is likely meaningful to consider differences in category knowledge when conceptualizing the receptive language deficits associated with HR populations. During language learning, typically developing children are sensitive to the common features of category members and use this information to generalize known object labels to newly encountered exemplars. The inability to identify similarities between category members and/or utilize this information when learning new object referents at 17 months of age may be a potential mechanism underlying the delays observed in HR populations.

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4. Hegde R, Hegde S, Kulkarni S, Kulkarni SS, Pandurangi A, Kariduraganavar MY, Das KK, Gai PB. Total Reflection X-ray Fluorescence Analysis of Plasma Elements in Autistic Children from India. Biological trace element research. 2022.

Trace elements are essential for the human body’s various physiological processes but if they are present in higher concentration, these elements turn to be toxic and cause adverse effect on physiological processes. Similarly, deficiency of these essential elements also affects physiological processes and leads to abnormal metabolic activities. There is a lot of interest in recent years to know the mystery behind the involvement of trace elements in the metabolic activities of autistic children suspecting that it may be a risk factor in the aetiology of autism. The present study aims to analyse the plasma trace elements in autistic children using the total reflection X-ray fluorescence (TXRF) technique. Plasma samples from 70 autistic children (mean age: 11.5 ± 3.1) were analysed with 70 age- and sex-matched healthy children as controls (mean age: 12 ± 2.5). TXRF analysis revealed the higher concentration of copper (1227.8 ± 17.8), chromium (7.1 ± 2.5), bromine (2695.1 ± 24) and arsenic (126.3 ± 10) and lower concentration of potassium (440.1 ± 25), iron (1039.6 ± 28), zinc (635.7 ± 21), selenium (52.3 ± 8.5), rubidium (1528.9 ± 28) and molybdenum (162,800.8 ± 14) elements in the plasma of autistic children in comparison to healthy controls. Findings of the first study from India suggest these altered concentrations in elements in autistic children over normal healthy children affect the physiological processes and metabolism. Further studies are needed to clarify the association between the altered element concentration and physiology of autism in the North Karnataka population in India.

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5. Kozielec-Oracka BJ, Min Y, Bhullar AS, Stasiak B, Ghebremeskel K. Plasma and red blood cell n3 fatty acids correlate positively with the WISC-R verbal and full-scale intelligence quotients and inversely with Conner’s parent-rated ADHD index t-scores in children with high functioning autism and Asperger’s syndrome. Prostaglandins, leukotrienes, and essential fatty acids. 2022; 178: 102414.

Findings of the fatty acid status of people with autism spectrum disorders have been incongruent perhaps because of the diversity of the condition. A cross-sectional design study was used to investigated fatty acid levels and relationships between fatty acids, and cognition and behaviour in a homogenous group of children with autism spectrum disorder. Children with Asperger’s syndrome (AS) /high functioning autism (n = 44) and healthy siblings (n = 17) were recruited from the Diagnostic and Therapeutic Centre for Children with Autism, Warsaw, Poland. In the AS group, plasma phosphatidylcholine 22:5n3 correlated positively with verbal (r = 0.357, p = 0.019) and full scale (r = 0.402, p = 0.008) IQs, red blood cell phosphatidylcholine 22:5n3 with verbal (r = 0.308, p = 0.044), performance (r = 0.304, p = 0.047) and full scale (r = 0.388, p = 0.011) IQs and red blood cell phosphatidylethanolamine 22:5n3 with verbal (r = 0.390, p = 0.010) and full scale (r = 0.370, p = 0.016) IQs. Whilst, plasma phosphatidycholine 20:5n3 (r = -0.395, p = 0.009), 22:6n3 (r = -0.402, p = 0.007) and total n3 fatty acids (r = -425, p = 0.005), red blood cell phosphatidlycholine 20:5n3 (r = -0.321, p = 0.036) and red blood cell phosphatidylethanolamine 20:5n3 (r = -0.317, p = 0.038), 22:6n3 (r = -0.297, p = 0.05) and total n3 fatty acids (r = -0.306, p = 0.046) correlated inversly with ADHD index. Similarly, inattention was negatively related with plasma phosphatidylcholine 22:6n3 (r = -0.335, p = 0.028), and total n3 fatty acids (r = -0.340, p = 0.026), oppositional with plasma phosphatidylcholine 18:3n3 (r = -0.333, p = 0.029), 20:5n3 (r = -0.365, p = 0.016), total n3 fatty acids (r = -0.293, p < 0.05), red blood cell phosphatidylcholine 18:3n3 (r = -0.337, p = 0.027) and red blood cell ethanolamine 18:3n3 (r = - 0.333, p = 0.029), 20:5n3 (r = -0.328, p = 0.032), 22:6n3 (r = 0.362, p = 0.017) and total n-3 fatty acids (r = -0.298, p < 0.05) and hyperactivity with plasma phosphatidylcholine 22:6n3 (r = -0.320, p = 0.039). In contrast, there were inverse correlations between red blood cell phosphatidylcholine 18:2n6 and performance (r = -0.358, p = 0.019) and full scale (r = -0.320, p = 0.039) IQs, and direct correlations between red blood cell phosphatidylcholine 22:4n6 (r = 0.339, p = 0.026) and 22:5n6 (r = 0.298, p < 0.05) and ADHD index, between red blood cell phosphatidylcholine 22:4n6 (r = 0.308, p = 0.044) and inattention, between plasma phosphatidylcholine 22:4n6 (r = 0.341, p = 0.025), red blood cell phosphatidylcholine 20:4n6 (r = 0.314, p = 0.041) and total n6 fatty acids (r = 0.336, p = 0.028) and oppositional and plasma phosphatidylcholine 20:3n6 (r = 0.362, p = 0.018) and red blood cell phosphatidylcholine 20:3n6 (r = 0.401, p = 0.009) and hyperactivity. The findings of the ethnically homogenous children with Asperger's syndrome/high functioning autism study revealed positive associations between 22:5n3 and cognition, and negative relationships between 20:5n3 and 22:6n3 and behavioural problem. In contrast, cognitive ability and behavioural problems were negatively and positively associated with n6 fatty acids. Further investigation is required to establish whether there a cause and effect relationship. Regardless, it would be prudent to ensure that children with the conditions have optimum n3 PUFA intake.

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6. López B. Commentary on Autism and the double-empathy problem: Implications for development and mental health. The British journal of developmental psychology. 2022.

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7. Lyons-Warren AM, Hirtz D. More Than a Brain Injury: A Novel Link Between Pediatric Stroke and Autism. Neurology. 2022.

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8. Matheson FI, Dastoori P, Whittingham L, Calzavara A, Keown LA, Durbin A, Kouyoumdjian FG, Lin E, Volpe T, Lunsky Y. Intellectual/developmental disabilities among people incarcerated in federal correctional facilities in Ontario, Canada: Examining prevalence, health and correctional characteristics. Journal of applied research in intellectual disabilities : JARID. 2022; 35(3): 900-9.

BACKGROUND: There is little research with people who experience intellectual/developmental disabilities and imprisonment. METHODS: The study linked health and correctional data to examine prevalence of intellectual/developmental disabilities and health and correctional characteristics among adults experiencing their first federal incarceration between 1 January 2002 and 31 December 2011 (n = 9278) and two non-incarcerated groups (n = 10,086,802). RESULTS: The prevalence of intellectual/developmental disabilities was 2.1% in the incarcerated group and 0.9% in the non-incarcerated group. Before incarceration, those with, versus without, intellectual/developmental disabilities were at greater risk of traumatic brain injury, mental illness, and substance use disorders. While incarcerated, those with intellectual/developmental disabilities were more likely to incur serious institutional disciplinary charges. Post-incarceration, persons with intellectual/developmental disabilities were at greater risk of emergency department visits, and psychiatric and acute hospitalizations, than the non-incarcerated groups. CONCLUSIONS: People with intellectual/developmental disabilities are overrepresented in Canadian federal correctional institutions. The authors offer strategies to support people prior to, during, and post-incarceration.

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9. Rossow T, MacLennan K, Tavassoli T. The Predictive Relationship Between Sensory Reactivity and Depressive Symptoms in Young Autistic Children with Few to No Words. Journal of autism and developmental disorders. 2022: 1-11.

Depression and sensory reactivity are both common in autism. However, there is little understanding of the predictive relationship between these factors, or the nature of this relationship in autistic children who speak few to no words. This study set out to explore the longitudinal relationship between sensory reactivity and depressive symptoms in 33 young autistic children who speak few to no words. We found positive correlations between depressive symptoms and hyper-reactivity and sensory seeking at both timepoints, and across timepoints. We further found a bidirectional predictive relationship between depressive symptoms and sensory seeking. These results implicate sensory seeking in the development of depressive symptoms in young autistic children who use few to no words. Our findings have important implications for preventative mental health interventions, especially for those with a developmental language delay.

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10. Sahin K, Orhan C, Karatoprak S, Tuzcu M, Deeh PBD, Ozercan IH, Sahin N, Bozoglan MY, Sylla S, Ojalvo SP, Komorowski JR. Therapeutic Effects of a Novel Form of Biotin on Propionic Acid-Induced Autistic Features in Rats. Nutrients. 2022; 14(6).

Magnesium biotinate (MgB) is a novel biotin complex with superior absorption and anti-inflammatory effects in the brain than D-Biotin. This study aimed to investigate the impact of different doses of MgB on social behavior deficits, learning and memory alteration, and inflammatory markers in propionic acid (PPA)-exposed rats. In this case, 35 Wistar rats (3 weeks old) were distributed into five groups: 1, Control; 2, PPA treated group; 3, PPA+MgBI (10 mg, HED); 4, PPA+MgBII (100 mg, HED); 5, PPA+MgBIII (500 mg, HED). PPA was given subcutaneously at 500 mg/kg/day for five days, followed by MgB for two weeks. PPA-exposed rats showed poor sociability and a high level of anxiety-like behaviors and cognitive impairments (p < 0.001). In a dose-dependent manner, behavioral and learning-memory disorders were significantly improved by MgB supplementation (p < 0.05). PPA decreased both the numbers and the sizes of Purkinje cells in the cerebellum. However, MgB administration increased the sizes and the densities of Purkinje cells. MgB improved the brain and serum Mg, biotin, serotonin, and dopamine concentrations, as well as antioxidant enzymes (CAT, SOD, GPx, and GSH) (p < 0.05). In addition, MgB treatment significantly regulated the neurotoxicity-related cytokines and neurotransmission-related markers. For instance, MgB significantly decreased the expression level of TNF-α, IL-6, IL-17, CCL-3, CCL-5, and CXCL-16 in the brain, compared to the control group (p < 0.05). These data demonstrate that MgB may ameliorate dysfunctions in social behavior, learning and memory and reduce the oxidative stress and inflammation indexes of the brain in a rat model.

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11. Schiavi S, Carbone E, Melancia F, di Masi A, Jarjat M, Brau F, Cardarelli S, Giorgi M, Bardoni B, Trezza V. Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder. Translational psychiatry. 2022; 12(1): 119.

Pharmacological inhibition of phosphodiesterase 2A (PDE2A), which catalyzes the hydrolysis of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), has recently been proposed as a novel therapeutic tool for Fragile X Syndrome (FXS), the leading monogenic cause of Autism Spectrum Disorder (ASD). Here, we investigated the role of PDE2A in ASD pathogenesis using two rat models that reflect one of either the genetic or environmental factors involved in the human disease: the genetic Fmr1-(Δ)exon 8 rat model and the environmental rat model based on prenatal exposure to valproic acid (VPA, 500 mg/kg). Prior to behavioral testing, the offspring was treated with the PDE2A inhibitor BAY607550 (0.05 mg/kg at infancy, 0.1 mg/kg at adolescence and adulthood). Socio-communicative symptoms were assessed in both models through the ultrasonic vocalization test at infancy and three-chamber test at adolescence and adulthood, while cognitive impairments were assessed by the novel object recognition test in Fmr1-(Δ)exon 8 rats (adolescence and adulthood) and by the inhibitory avoidance test in VPA-exposed rats (adulthood). PDE2A enzymatic activity in VPA-exposed infant rats was also assessed. In line with the increased PDE2A enzymatic activity previously observed in the brain of Fmr1-KO animals, we found an altered upstream regulation of PDE2A activity in the brain of VPA-exposed rats at an early developmental age (p < 0.05). Pharmacological inhibition of PDE2A normalized the communicative (p < 0.01, p < 0.05), social (p < 0.001, p < 0.05), and cognitive impairment (p < 0.001) displayed by both Fmr1-(Δ)exon 8 and VPA-exposed rats. Altogether, these data highlight a key role of PDE2A in brain development and point to PDE2A inhibition as a promising pharmacological approach for the deficits common to both FXS and ASD.

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12. Shobeiri P, Kalantari A, Teixeira AL, Rezaei N. Shedding light on biological sex differences and microbiota-gut-brain axis: a comprehensive review of its roles in neuropsychiatric disorders. Biology of sex differences. 2022; 13(1): 12.

Women and men are suggested to have differences in vulnerability to neuropsychiatric disorders, including major depressive disorder (MDD), generalized anxiety disorder (GAD), schizophrenia, eating disorders, including anorexia nervosa, and bulimia nervosa, neurodevelopmental disorders, such as autism spectrum disorder (ASD), and neurodegenerative disorders including Alzheimer’s disease, Parkinson’s disease. Genetic factors and sex hormones are apparently the main mediators of these differences. Recent evidence uncovers that reciprocal interactions between sex-related features (e.g., sex hormones and sex differences in the brain) and gut microbiota could play a role in the development of neuropsychiatric disorders via influencing the gut-brain axis. It is increasingly evident that sex-microbiota-brain interactions take part in the occurrence of neurologic and psychiatric disorders. Accordingly, integrating the existing evidence might help to enlighten the fundamental roles of these interactions in the pathogenesis of neuropsychiatric disorders. In addition, an increased understanding of the biological sex differences on the microbiota-brain may lead to advances in the treatment of neuropsychiatric disorders and increase the potential for precision medicine. This review discusses the effects of sex differences on the brain and gut microbiota and the putative underlying mechanisms of action. Additionally, we discuss the consequences of interactions between sex differences and gut microbiota on the emergence of particular neuropsychiatric disorders.

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13. Su WC, Culotta M, Tsuzuki D, Bhat A. Cortical activation during cooperative joint actions and competition in children with and without an autism spectrum condition (ASC): an fNIRS study. Scientific reports. 2022; 12(1): 5177.

Children with an Autism Spectrum Condition (ASC) have social communication and perceptuomotor difficulties that affect their ability to engage in dyadic play. In this study, we compared spatio-temporal errors and fNIRS-related cortical activation between children with and without an ASC during a Lincoln Log dyadic game requiring them to play leader or follower roles, move in synchrony or while taking turns, and move cooperatively or competitively with an adult partner. Children with an ASC had greater motor, planning, and spatial errors and took longer to complete the building tasks compared to typically developing (TD) children. Children with an ASC had lower superior temporal sulcus (STS) activation during Turn-take and Compete, and greater Inferior Parietal Lobe (IPL) activation during Lead and Turn-take compared to TD children. As dyadic play demands increased, TD children showed greater STS activation during Turn-take (vs. Synchrony) and Compete (vs. Cooperate) whereas children with an ASC showed greater IPL activation during Lead and Compete (vs. Cooperate). Our findings suggest that children with an ASC rely on self-generated action plans (i.e., increased IPL activation) more than relying on their partner’s action cues (i.e., reduced STS activation) when engaging in dyadic play including joint actions and competition.

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