Pubmed du 27/09/20

dimanche 27 septembre 2020

1. Cogley C, O’Reilly H, Bramham J, Downes M. A Systematic Review of the Risk Factors for Autism Spectrum Disorder in Children Born Preterm. Child Psychiatry Hum Dev ;2020 (Sep 27)

Preterm birth is associated with an increased risk for autism spectrum disorder, with various factors proposed to underlie this relationship. The aim of this systematic review was to provide a narrative synthesis of the literature regarding the prenatal, perinatal and postnatal factors associated with autism spectrum disorder in children born preterm. Medline, Embase and PsycINFO databases were searched via Ovid to identify studies published from January 1990 to December 2019. Original studies in which a standardized diagnostic tool and/or clinical assessment was used to diagnose autism, along with a risk factor analysis to identify associated predictors, were included. A total of 11 eligible studies were identified. Male sex, being born small for gestational age and general cognitive impairment were the most robust findings, with each reported as a significant factor in at least two studies. Comparisons across studies were limited by variation in risk factor measurement and gestational age ranges investigated.

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2. DiCriscio AS, Troiani V. Resting and Functional Pupil Response Metrics Indicate Features of Reward Sensitivity and ASD in Children. J Autism Dev Disord ;2020 (Sep 25)

The current study examined the relationship between quantitative measures of reward and punishment sensitivity, features of autism spectrum disorder (ASD), and resting and functional pupil response metrics across a clinically heterogeneous sample. Scores on a parent-report measure of punishment and reward sensitivity were correlated with ASD features. We also assessed whether pupil measurements could be used as a physiologic correlate of reward sensitivity and predictor of ASD diagnosis. In a logistic regression model, pupil dilation metrics, sex, and IQ, correctly classified 86.3% of participants as having an ASD diagnosis versus not. This research highlights individual differences of reward sensitivity associated with ASD features. Results support the use of pupil metrics and other patient-level variables as predictors of ASD diagnostic status.

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3. Garcia-Medina JJ, Rubio-Velazquez E, Lopez-Bernal MD, Parraga-Muñoz D, Perez-Martinez A, Pinazo-Duran MD, Del-Rio-Vellosillo M. Optical Coherence Tomography Angiography of Macula and Optic Nerve in Autism Spectrum Disorder : A Pilot Study. J Clin Med ;2020 (Sep 27) ;9(10)

The aim of this study was to compare retinal thicknesses and vascular parameters between autism spectrum disorder (ASD) and neurotypical (NT) individuals. Recruited ASD subjects and age- and sex-matched NT controls underwent 2 optical coherence tomography scans (OCT) (macular cube and optic nerve cube) and 2 OCT angiography (OCTA) scans (macular and optic nerve head (ONH) OCTA) with the device Cirrus 5000 (Zeiss). Concerning OCT, we considered full retina thickness in 9 macular sectors of the Early Treatment Diabetic Retinopathy Study (ETDRS) pattern and peripapillary retinal nerve fiber layer (pRNFL) thickness in 4 quadrants and 12 clock-hour sectors. Vessel density and capillary perfusion density in 9 sectors were measured using 6 × 6 mm macular OCTA. Foveal avascular zone (FAZ) parameters were also considered. ONH 4.5 × 4.5 mm OCTA estimated perfusion density and flux index in 4 peripapillary quadrants. Comparisons between groups of all these parameters were performed. ASD subjects showed higher ONH perfusion density and lower ONH flux index at the peripapillary inferior quadrant when compared with NT individuals (p < 0.05). Plus, a trend towards higher macular thicknesses, higher pRNFL thickness at inferior clock-hour sectors and higher macular vessel density and perfusion was observed in ASD. No differences were found in FAZ parameters. In conclusion, retinas of ASD subjects may present some structural and vascular differences when compared with retinas of NT individuals.

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4. Geniş B, Şahin F, Coşar B. Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms : Case Report. Turk Psikiyatri Derg ;2020 (Fall) ;31(3):216-220.

Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appearance, hypotonia at birth, hypernasal speech, characteristic craniofacial appearance and normal testis size. The frequency of the syndrome is not known thus the information obtained is solely based on case reports. Hereby, we present a patient with LFS diagnosis. The 29-year old male patient had mental retardation, aggression, and persecutory delusions, characteristic craniofacial and marfanoid features. During his speech pronominal reversal was observed (’the hurt him, he is so upset’ when talking abour himself). After examination and genetic analysis, fragile X, Klinefelter, Marfan and Down syndromes and homocystinuria were eliminated as causes of mental retardation. A preliminary diagnoses of LFS done. No mutation was detected in exon 22 of the MED12 gene ; but. Whole Exome Sequencing (WES) is ongoing. The patient was started on risperidone (4 mg/day) for psychotic symptoms and carbamazepine (200 mg/day) for impulse control and as an antiepileptic. After a follow up of 8 months, impulse control, psychotic symptoms and aggression improved significantly. Since the specific gene mutation of LFS was not determined in our case, we solely had to depend on clinical evaluation and genetic analysis. Although it is not easy to fully define or classify these syndromes, we believe every reported case will be a step in overcoming these difficulties.

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5. Mottron L. Autism spectrum disorder. Handb Clin Neurol ;2020 ;174:127-136.

Autism is a frequent, precocious behavioral constellation of social and communicative atypicalities associated with apparently restricted interests and repetitive behavior and paired with an uneven ability profile. Its definition has constantly broadened in the past 75 years, introducing phenotypes increasingly distant from its initial description, heterogeneous in intelligence and speech level, and associated conditions. When it is unassociated with other conditions, its origin is mostly genetic, transmissible, and favored by frequent polymorphisms with small effects present in the general population. Identified de novo rare mutations with large deleterious effects produce phenotypes only loosely related to nonsyndromic autism. Autism is associated with brain reorganization at multiple levels, and with a variant of typical information processing, i.e., the way humans perceive, memorize, manipulate, and attribute emotional value to available information. Its phenotype evolves over the span of life, with an overall reduction of autistic signs, but it still requires some level of support. There is no treatment for this condition ; however, it is compatible with high levels of integration into society.

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6. Perin C, Valagussa G, Mazzucchelli M, Gariboldi V, Cerri CG, Meroni R, Grossi E, Cornaggia CM, Menant J, Piscitelli D. Physiological Profile Assessment of Posture in Children and Adolescents with Autism Spectrum Disorder and Typically Developing Peers. Brain Sci ;2020 (Sep 27) ;10(10)

A sound postural system requires sensorimotor integration. Evidence suggests that individuals with Autism Spectrum Disorder (ASD) present sensorimotor integration impairments. The Physiological Profile Assessment (PPA) can be used to evaluate postural capacity assessing five physiological subsets (i.e., vision, reaction time, peripheral sensation, lower limb strength, balance) ; however, no studies applied the PPA in young individuals. Therefore, this study aimed to investigate the PPA in children and adolescents with ASD compared with age-matched typically developing (TD) individuals and examine the relationship between the PPA subset within the ASD and TD participants according to different age groups. Percentiles from the PPA were obtained from the TD children and adolescents (n = 135) for each test. Performances of the individuals with ASD (n = 18) were examined relative to the TD percentiles. ASD participants’ scores were above the 90th percentile (i.e., poor performance) in most sensory, motor and balance parameters. Performance in most of the PPA tests significantly improved with older age in the TD group but not in the ASD group. The study findings support the use of the PPA in TD children and adolescents while further research should investigate postural capacity in a larger ASD sample to enhance the understanding of sensorimotor systems contributing to compromised postural control.

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7. Ramaswami G, Won H, Gandal MJ, Haney J, Wang JC, Wong CCY, Sun W, Prabhakar S, Mill J, Geschwind DH. Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism. Nat Commun ;2020 (Sep 25) ;11(1):4873.

Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown patterns of molecular convergence in post-mortem brain tissue from autistic subjects. Here, we integrate genome-wide measures of mRNA expression, miRNA expression, DNA methylation, and histone acetylation from ASD and control brains to identify a convergent molecular subtype of ASD with shared dysregulation across both the epigenome and transcriptome. Focusing on this convergent subtype, we substantially expand the repertoire of differentially expressed genes in ASD and identify a component of upregulated immune processes that are associated with hypomethylation. We utilize eQTL and chromosome conformation datasets to link differentially acetylated regions with their cognate genes and identify an enrichment of ASD genetic risk variants in hyperacetylated noncoding regulatory regions linked to neuronal genes. These findings help elucidate how diverse genetic risk factors converge onto specific molecular processes in ASD.

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8. Tanaka S, Komagome A, Iguchi-Sherry A, Nagasaka A, Yuhi T, Higashida H, Rooksby M, Kikuchi M, Arai O, Minami K, Tsuji T, Tsuji C. Participatory Art Activities Increase Salivary Oxytocin Secretion of ASD Children. Brain Sci ;2020 (Sep 27) ;10(10)

Autism spectrum disorder (ASD) occurs in 1 in 160 children worldwide. Individuals with ASD tend to be unique in the way that they comprehend themselves and others, as well as in the way that they interact and socialize, which can lead to challenges with social adaptation. There is currently no medication to improve the social deficit of children with ASD, and consequently, behavioral and complementary/alternative intervention plays an important role. In the present pilot study, we focused on the neuroendocrinological response to participatory art activities, which are known to have a positive effect on emotion, self-expression, sociability, and physical wellbeing. We collected saliva from 12 children with ASD and eight typically developed (TD) children before and after a visual art-based participatory art workshop to measure the levels of oxytocin, a neuropeptide involved in a wide range of social behaviors. We demonstrated that the rate of increase in salivary oxytocin following art activities in ASD children was significantly higher than that in TD children. In contrast, the change rate of salivary cortisol after participatory art activities was similar between the two groups. These results suggest that the beneficial effects of participatory art activities may be partially mediated by oxytocin release, and may have therapeutic potential for disorders involving social dysfunction.

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9. Vasa RA, Keefer A, McDonald RG, Hunsche MC, Kerns CM. A Scoping Review of Anxiety in Young Children with Autism Spectrum Disorder. Autism Res ;2020 (Sep 25)

Research on anxiety in children and adolescents with autism spectrum disorder (ASD) has burgeoned in the past 15 years. Most of the research has focused on school-age children, ages 6 to 18 years. Yet, recent studies suggest that anxiety can emerge in young children, under 6 years, with ASD. This scoping review synthesized the literature on anxiety in young children with ASD. Three domains of anxiety research were reviewed : (a) prevalence/severity, phenomenology, and course ; (b) correlates ; and (c) treatment. Four online databases were searched from the start of the database until March 2020. Keywords pertaining to anxiety, autism, and young children were entered. The search identified 44 articles for inclusion. These studies varied with respect to sample source, informants, and measures to assess anxiety. The overall prevalence of anxiety ranged from 1.6 to 62%. Sixteen of 17 studies found that young children with ASD had higher levels of anxiety compared to various control groups. A variety of DSM anxiety symptoms and disorders were present in young children with the most common symptoms being specific, social, and generalized fears. Correlates of anxiety included sensory over-responsivity, sleep disturbance, aggression/defiance, and attention deficit/hyperactivity disorder. Three cognitive behavioral treatment studies for anxiety and one developmental intervention targeting ASD symptoms showed promise in reducing anxiety. Findings indicate an early emergence of anxiety in some children with ASD. Further research on the measurement, pathophysiology, and treatment of anxiety in early childhood is critical to improving outcomes in children with ASD. LAY SUMMARY : This scoping review synthesizes the literature on anxiety in young children with autism spectrum disorder (ASD). Results indicate that children with ASD have higher levels of anxiety than children without ASD. Potential factors that could be contributing to anxiety include sensory, sleep, and behavioral problems. Preliminary studies show that anxiety can improve with cognitive behavioral treatment. These findings suggest that research on anxiety in young children with ASD should be prioritized to improve mental health outcomes.

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10. Yenen AS, Çak HT. Melatonin and Circadian Rhythm in Autism Spectrum Disorders. Turk Psikiyatri Derg ;2020 (Fall) ;31(3):201-211.

OBJECTIVE : Autism spectrum disorders (ASD) are neurodevelopmental disorders of early childhood which are characterized by limited social-emotional reciprocity and restricted, repetitive patterns of interest and behaviors. The pathophysiology of ASD has not been fully elucidated. Dysregulation of circadian rhythm and melatonin might play a role in ASD pathogenesis. This article aims to review the relationship between melatonin, circadian rhythm and ASD in detail. METHOD : Articles published in the PubMed database between 1990- 2019 were reviewed and prominent studies in the scope of the review were included. RESULTS : Decreased melatonin levels were detected frequently in ASD and melatonin replacement treatment for sleep disorders accompanying ASD has given satisfactory results. Similarly, circadian rhythm disorders were frequently reported in ASD, which might increase the susceptibility to ASD through their effects on synaptic plasticity in the early neurodevelopment. Mutations in the clock-controlled genes were also common in ASD. CONCLUSION : Further are required for understanding the relationship between melatonin, circadian rhythm and ASD, which will not only shed light on the role of melatonin in the etiology of ASD, but may also guide to early intervention options.

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11. Zhou HY, Yang HX, Shi LJ, Lui SSY, Cheung EFC, Chan RCK. Correlations Between Audiovisual Temporal Processing and Sensory Responsiveness in Adolescents with Autistic Traits. J Autism Dev Disord ;2020 (Sep 25)

Atypical sensory processing has recently gained much research interest as a key domain of autistic symptoms. Individuals with autism spectrum disorder (ASD) exhibit difficulties in processing the temporal aspects of sensory inputs, and show altered behavioural responses to sensory stimuli (i.e., sensory responsiveness). The present study examined the relation between sensory responsiveness (assessed by the Adult/Adolescent Sensory Profile) and audiovisual temporal integration (measured by unisensory temporal order judgement (TOJ) tasks and audiovisual simultaneity judgement (SJ) tasks) in typically-developing adolescents (n = 94). We found that adolescents with higher levels of autistic traits exhibited more difficulties in separating visual stimuli in time (i.e., larger visual TOJ threshold) and showed a stronger bias to perceive sound-leading audiovisual pairings as simultaneous. Regarding the associations between different measures of sensory function, reduced visual temporal acuity, but not auditory or multisensory temporal processing, was significantly correlated with more atypical patterns of sensory responsiveness. Furthermore, the positive correlation between visual TOJ thresholds and sensory avoidance was only found in adolescents with relatively high levels of autistic traits, but not in those with relatively low levels of autistic traits. These findings suggest that reduced visual temporal acuity may contribute to altered sensory experiences and may be linked to broader behavioural characteristics of ASD.

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