Pubmed du 14/01/20

mardi 14 janvier 2020

1. Andari E, Nishitani S, Kaundinya G, Caceres GA, Morrier MJ, Ousley O, Smith AK, Cubells JF, Young LJ. Epigenetic modification of the oxytocin receptor gene : implications for autism symptom severity and brain functional connectivity. Neuropsychopharmacology ;2020 (Jan 13)

The role of oxytocin in social cognition has attracted tremendous interest in social neuroscience and psychiatry. Some studies have reported improvement in social symptoms following oxytocin treatment in autism spectrum disorders (ASD), while others point to endogenous factors influencing its efficiency and to mixed results in terms of long-term clinical benefits. Epigenetic modification to the oxytocin receptor gene (OXTR) in ASD could be an informative biomarker of treatment efficacy. Yet, little is known about the relationship between OXTR methylation, clinical severity, and brain function in ASD. Here, we investigated the relationship between OXTR methylation, ASD diagnosis (in N = 35 ASD and N = 64 healthy group), measures of social responsiveness, and resting-state functional connectivity (rsFC) between areas involved in social cognition and reward processing (in a subset of ASD, N = 30). Adults with ASD showed higher OXTR methylation levels in the intron 1 area compared with healthy subjects. This hypermethylation was related to clinical symptoms and to a hypoconnectivity between cortico-cortical areas involved in theory of mind. Methylation at a CpG site in the exon 1 area was positively related to social responsiveness deficits in ASD and to a hyperconnectivity between striatal and cortical brain areas. Taken together, these findings provide initial evidence for OXTR hypermethylation in the intron area as a potential biomarker for adults with ASD with less severe developmental communication deficits, but with impairments in theory of mind and self-awareness. Also, OXTR methylation in the exon 1 area could be a potential biomarker of sociability sensitive to life experiences.

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2. Bailey B, Arciuli J. Indigenous Australians with autism : A scoping review. Autism ;2020 (Jan 13):1362361319894829.

LAY ABSTRACT : Aboriginal and Torres Strait Islander people with developmental disabilities such as autism are among the most marginalised people in Australian society. We reviewed research involving Indigenous Australians with autism based on a search of the peer-reviewed and grey literature. Our search identified 1457 potentially relevant publications. Of these, 19 publications were in line with our main areas of inquiry : autism spectrum disorder diagnosis and prevalence, carer and service provider perspectives on autism, and autism support services. These included 12 journal publications, 3 conference presentations, 1 resource booklet and 1 thesis dissertation. Findings suggest similar prevalence rates for autism among Indigenous and non-Indigenous Australians, although some Aboriginal and Torres Strait Islander people with autism may not receive a diagnosis or may be misdiagnosed. We also discuss research on the perspectives of Aboriginal and Torres Strait Islander carers and Indigenous and non-Indigenous service providers, as well as barriers and strategies for improving access to diagnosis and support services.

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3. Dawson G, Campbell K, Hashemi J, Lippmann SJ, Smith V, Carpenter K, Egger H, Espinosa S, Vermeer S, Baker J, Sapiro G. Author Correction : Atypical postural control can be detected via computer vision analysis in toddlers with autism spectrum disorder. Sci Rep ;2020 (Jan 14) ;10(1):616.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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4. Jasenovec T, Radosinska D, Celusakova H, Filcikova D, Babinska K, Ostatnikova D, Radosinska J. Erythrocyte deformability in children with autism spectrum disorder : correlation with clinical features. Physiol Res ;2019 (Dec 20) ;68(Supplementum 3):S307-S313.

Biomechanical properties of erythrocytes play an important role in health and disease. Deformability represents intrinsic property of erythrocytes to undergo deformation that is crucial for their passage through the narrow capillaries. The erythrocyte damage can lead to compromised tissue perfusion and consequently play a role in the pathogenesis of various diseases including neurological ones. Data available in databases indicate that erythrocytes in autism spectrum disorder (ASD) are altered. This may affect the clinical symptoms of ASD. The aim of our study was to determine erythrocyte deformability in 54 children with ASD and correlate it with clinical symptoms. We found significant negative correlation between erythrocyte deformability and score in C domain of the Autism Diagnostic Interview-Revised (ADI-R) diagnostic tool describing the measure of restrictive, repetitive, and stereotyped behaviors and interests, mainly observable in C1 and C2, but not in C3 and C4 subdomains. This supports the findings of other authors and suggest that behavioral domain C comprises of more subcategories with different underlying etiology. Our results also indicate that abnormalities in erythrocyte deformability may be involved in ASD pathomechanisms and contribute to its clinical manifestation. Further research is necessary to bring more data and identify erythrocyte deformability as prognostic biomarker in ASD.

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5. Karthikeyan R, Cardinali DP, Shakunthala V, Spence DW, Brown GM, Pandi-Perumal SR. Understanding the role of sleep and its disturbances in Autism spectrum disorder. Int J Neurosci ;2020 (Jan 14):1-14.

Background : Several studies have established a positive relationship between sleep difficulties and symptomatology in ASD children. The rationale for this review is to describe and discuss the sleep difficulties, which are one of the significant complications associated with autism spectrum disorder (ASD).Purpose : Many types of sleep disorders have been reported in ASD individuals, but still lack a comprehensive study and in-depth analysis. Despite the contribution of sleep problems to the overall symptoms of ASD, the symptoms of disturbed sleep experienced by many affected patients have only recently started to receive attention from clinicians and family members.Materials and methods : This narrative overview has been prepared based on searching standard research databases with specific keywords ; b. Additional search was made using the bibliographies of the retrieved articles ; and c. author’s collection of relevant peer-reviewed articles. Once selected, manuscripts are then compared and summarized based on the author’s perspective. Results are based on a qualitative rather than a quantitative level.Results : This article highlights the role of sleep in the brain and neural development of children and emphasizes that the intensity of sleep problems is associated with an increased occurrence of ASD symptoms. It also suggests the significance of treating sleep problems in ASD individuals.Conclusions : The review provides broader perspectives and a better understanding of sleep problems in pathophysiology, mechanism, and management with respect to ASD individuals. Finally, the implications for clinical practice and future agendas have also been discussed.

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6. Khoury E, Carment L, Lindberg P, Gaillard R, Krebs MO, Amado I. [Sensorimotor aspects and manual dexterity in autism spectrum disorders : A literature review]. Encephale ;2020 (Jan 9)

OBJECTIVES : Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by difficulties in communication and social interactions as well as by restricted and repetitive patterns of behavior and interests. They are frequently associated with motor signs. However, literature concerning these motor anomalies remains scarce when it comes to the adult population. Among motor aspects, those concerning manual motor skills warrant a particular attention as their alteration often persists through adulthood with a major impact on functioning and quality of life. The purpose of this article was to systematically review and analyze the literature on sensorimotor aspects and manual motor impairments in ASD. METHODS : We have searched the Medline database using the Pubmed search engine and retaining all articles published since the year 2000 with either their title, abstract or key-words containing the root autis* and any combination of the following terms : hand, manual, finger, dexterity, prehension, grip or grasp. Reference lists where also reviewed. After irrelevant articles were excluded, 33 studies were retained for this work. RESULTS : The basic motor anomaly in autism seems to be a deficit in sensorimotor integration. The central nervous system of individuals with ASD seems unable to efficiently extract sensory information and integrate it correctly into a motor plan and execution. This type of online correction aims to save time on the initial ballistic phase of a movement. Thus, its alteration results in generalized slowness and motor clumsiness that require retroactive feedback corrections. Moreover, difficulties in integrating external sensory information to correctly adapt movement to environmental requirements could explain stereotyped and inflexible behaviors characteristic of autism. The same sensorimotor alterations are found in both gross and fine manual dexterity tasks. They seem to persist significantly though adolescence and into adulthood. To explain these anomalies, the underlying neuroanatomical and neurofunctional substratum might be a hypoconnectivity within cortico-cerebellar tracts. However, several other cerebral structures are also implicated. A delay in the maturational processes of these structures appears to be the common determinant of motor signs found in ASD but also in neurodevelopmental disorders as a whole. CONCLUSIONS : Current works tackling motor aspects in autism comprise several limitations preventing homogenization of their findings. Firstly, characterization of the extremely diverse clinical forms of ASD does not always rely on the same clinical criteria or tools. Furthermore, the motor tasks and the clinical assessments used are not always the same across publications complicating comparison. Moreover, sample sizes are almost always small and only a few studies have addressed motor impairments in adults with ASD. Furthermore, only two studies examine the dynamic longitudinal evolution of motor aspects from childhood to adult age. Finally, despite a recent effort of a consistent number of publications converging towards the hypothesis of a deficit in sensorimotor integration, a common pathophysiological model explaining these deficits in ASD is lacking. A more precise description of these motor signs and further comprehension of the neurological mechanisms underpinning them would allow more tailored managements directed towards subgroups with more homogenous neurodevelopmental profiles.

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7. Nabgha EA, Eqani S, Khuram F, Alamdar A, Tahir A, Shah STA, Nasir A, Javed S, Bibi N, Hussain A, Rasheed H, Shen H. Environmental exposure pathway analysis of trace elements and autism risk in Pakistani children population. Sci Total Environ ;2020 (Jan 7) ;712:136471.

The pursuit of industrialization and urbanization in developing countries disrupt the fragile environment, resulting in biogeochemical extra-emission of the trace elements into human inhabitance causing serious health concerns. We aimed to determine the associations between Autism spectrum disorder (ASD) risk and exposure to trace elements (As, Zn, Ni, Pb, Hg, Cu, Cd, and Co), associations between the internal doses and environmental sources of these elements were also assessed. Genetic susceptibility to toxins was assessed through GSTT1 and GSTM1 null polymorphism analysis. Our results showed that lower BMI in children was significantly associated with ASD (p < 0.05, AOR = 0.86 ; 95% CI : 0.76, 0.98). As was significantly higher in both hair (p < 0.01, AOR = 18.29 ; 95% CI : 1.98, 169) and urine (p < 0.01, AOR = 1.04 ; 95% CI : 1.01, 1.06) samples from children with ASD ; urinary Hg (p < 0.05, AOR = 2.90 ; 95% CI : 1.39, 6.07) and Pb (p < 0.05, AOR = 1.95 ; 95% CI : 1.01, 3.77) were also positively associated with ASD. Regarding the genetic susceptibility, Cu was significantly associated with GSTM1 positive genotype (p < 0.05, AOR = 1.05 ; 95% CI : 1.00, 1.10). Children inhabiting the urban areas exposed to significantly higher levels of studied trace elements. The Estimated Daily Intake (EDI) values highlighted that the different land use settings resulted in children’s source specific exposure to studied trace elements. The exposure pathway analysis showed that the distal factors of land-use settings associated with children increased exposure risk for most of the investigated elements, noticeably As, Pb and Hg associated with ASD prevalence.

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8. Nichols HM, Dababnah S, Troen B, Vezzoli J, Mahajan R, Mazefsky CA. Racial Disparities in a Sample of Inpatient Youth with ASD. Autism Res ;2020 (Jan 13)

Although more than one in 10 youth with Autism Spectrum Disorder (ASD) is admitted to a psychiatric facility before they reach adulthood, the inpatient population is underrepresented in research. Furthermore, Black youth are more likely to be psychiatrically hospitalized, compared to their White counterparts. Yet, prior research has been inconsistent in potential racial differences in ASD symptoms and severity. This study examined differences in the symptom presentation of psychiatrically hospitalized Black and White youth with ASD. Researchers collected data as part of a larger study of youth admitted to one of six US specialized inpatient psychiatric units between 2013 and 2017. We used bivariate and multivariate models to analyze the data. The study included 654 youth diagnosed with ASD, with an average age of 13 years. While bivariate analyses found that Black youth had lower written language and daily living skills and more impaired social affect and inappropriate speech, multivariate regression models suggested that overall ability level and age may be driving these differences. Specifically, the only variables that significantly predicted adaptive functioning (written language, daily living) and behavioral profiles (social affect, inappropriate speech) were verbal ability, IQ, and age. Race was not a significant predictor in any of the models. Cultural diversity and competency are vital to the identification and treatment of ASD clinical care. Thus, understanding the role race may play in early detection and accurate diagnosis is important to improving ASD identification, diagnosis, and treatment. LAY SUMMARY : This study examined differences in autism symptoms between Black and White youth in psychiatric hospitals. We found that while it initially appeared that Black and White youth differed in written language and daily living skills, these racial differences were not significant once we accounted for differences in IQ, age, and verbal ability. Our findings suggest that providers should pay greater attention to other potential reasons for racial disparities in autism services.

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9. Oie MG, Andersen PN, Hovik KT, Skogli EW, Rund BR. Similar impairments shown on a neuropsychological test battery in adolescents with high-functioning autism and early onset schizophrenia : a two-year follow-up study. Cogn Neuropsychiatry ;2020 (Jan 14):1-16.

Introduction : Cognitive impairments are common in both Autism Spectrum Disorders (ASD) and schizophrenia, but it is unclear whether the pattern of difficulties is similar or different in the two disorders. This cross-sectional and longitudinal study compared the neuropsychological functioning in adolescents with ASD with adolescents with Early Onset Schizophrenia (EOS).Methods : At baseline and at two-year follow-up, participants were assessed with a brief neuropsychological test battery measuring executive functions, visual and verbal learning, delayed recall and recognition and psychomotor speed.Results : We found similar levels of neuropsychological impairment across groups and over time in the adolescents with ASD or EOS. Adolescents in both groups did not improve significantly on verbal learning, verbal delayed recall, visual learning, visual delayed recall or visual delayed recognition, and both groups performed poorer on verbal recognition. Both groups improved on measures of psychomotor processing and executive functions.Conclusion : The findings suggest that it may be difficult to differentiate adolescents with EOS and ASD based on neuropsychological task performance. An implication of the results is that adolescents with either disorder may benefit from a similar approach to the treatment of cognitive impairment in the disorders.

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10. Pahlman M, Gillberg C, Wentz E, Himmelmann K. Autism spectrum disorder and attention-deficit/hyperactivity disorder in children with cerebral palsy : results from screening in a population-based group. Eur Child Adolesc Psychiatry ;2020 (Jan 11)

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are more common in children with cerebral palsy (CP) than in the general population, but may still be underdiagnosed. This study aimed to estimate screen-positive ASD and ADHD in a population-based group of 264 school-aged children with CP born 1999-2006 from the CP register of western Sweden. Validated parent-completed questionnaires were used at a median age of 12 years 11 months (range 8-17 years). Three different scales were used to detect signs of ASD and ADHD, respectively. Response rate was 88% (232/264). In 19 children, all in the most disabled group, the screening procedure was not feasible due to too few questionnaire items completed, leaving 213 for analyses. One third (74/213) of the children screened positive for ASD and half of the children (106/213) for ADHD, which was about twice as often as ASD/ADHD diagnoses had been clinically identified. Children with intellectual disability, epilepsy and/or impaired speech ability more often screened positive for ASD as well as ADHD. Severe motor impairment was more frequently associated with screen-positive ASD, but not ADHD. Neither sex nor CP type was associated with screen-positive ASD/ADHD. In conclusion, school-aged children with CP very often screened positive for ASD and/or ADHD. The prevalence of ASD and ADHD is most likely underestimated in children with CP. These screening findings require further investigations.

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11. Salcedo-Arellano MJ, Dufour B, McLennan Y, Martinez-Cerdeno V, Hagerman R. Fragile X syndrome and associated disorders : Clinical aspects and pathology. Neurobiol Dis ;2020 (Jan 9):104740.

This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin : the mutation of the FMR1 gene ; revealing the complexity of expansion genetics.

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12. Talmi Z, Mankuta D, Raz R. Birth weight and autism spectrum disorder : A population-based nested case-control study. Autism Res ;2020 (Jan 13)

Low birth weight (<2,500 g) and preterm birth (<37 weeks) were found to be associated with increased risk of autism spectrum disorder (ASD), however, the data regarding the entire birth weight (BW) and gestational age (GA) range are inconclusive. In this population nested case-control study, based on the Israeli National Insurance Institute records, we aimed to estimate the associations in the Israeli population. The study population included all children born between 2000 and 2012 and diagnosed with ASD (N = 12,635 cases), and a random 20% sample of children born in the same period who were not diagnosed with ASD (N = 369,548 controls). We used multiple logistic regression models to calculate the risk of ASD for each BW and GA category, adjusted for covariates (child sex, maternal age, paternal age, population group, maternal wage, paternal wage, having a sibling with ASD, multiple gestation and socioeconomic status). BW < 3,000 g and GA < 39 weeks were associated with higher risk of ASD, including BW of 2,500-3,000 g (adjusted odds ratio [AOR], 1.18 ; 95% CI, 1.12-1.24, in comparison to the 3,000-3,500 g category) and GA of 37 & 38 weeks (AOR, 1.35 ; 95% CI, 1.25-1.45 and AOR, 1.13 ; 95% CI 1.06-1.20, respectively ; in comparison to GA of 40 weeks). To account for the high correlation between GA and BW, we modeled BW percentiles for gestational age and found that the BW < 20th percentile was associated with an increased risk of ASD (AOR, 1.10 ; 95% CI, 1.01-1.19). These results demonstrate that associations of ASD with BW and GA are not limited to commonly used clinical cutoffs. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Autism spectrum disorder (ASD) has been associated with low birth weight (<2,500 g) in prior research. Our study aims to describe the relationship between birth weight (BW) and ASD in the Israeli population. We found that BW <3,000 g was associated with a higher risk of ASD. These results demonstrate that an increased risk of ASD is not confined to clinically defined cutoffs such as BW < 2,500 g.

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13. Tomova A, Kemenyova P, Filcikova D, Szapuova Z, Kovac A, Babinska K, Ostatnikova D. Plasma levels of glial cell marker S100B in children with autism. Physiol Res ;2019 (Dec 20) ;68(Supplementum 3):S315-S323.

Autism spectrum disorder (ASD) is a neurodevelopmental condition with increasing incidence. Recent evidences suggest glial cells involvement in autism pathophysiology. S100B is a calcium binding protein, mainly found in astrocytes and therefore used as a marker of their activity. In our study, children with autism had higher plasma concentrations of S100B compared to non-autistic controls. No association of S100B plasma levels with behavioral symptoms (ADI-R and ADOS-2 scales) was found. Plasma S100B concentration significantly correlated with urine serotonin, suggesting their interconnection. Correlation of plasma S100B levels with stool calprotectin concentrations was found, suggesting not only brain astrocytes, but also enteric glial cells may take part in autism pathogenesis. Based on our findings, S100B seems to have a potential to be used as a biomarker of human neurodevelopmental disorders, but more investigations are needed to clarify its exact role in pathomechanism of autism.

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14. Van der Aa N, Kooy RF. GABAergic abnormalities in the fragile X syndrome. Eur J Paediatr Neurol ;2019 (Dec 24)

Many pathways have been involved in pathophysiology of the fragile X syndrome, one of the more frequent genetic causes of intellectual disability and autism. This review highlights the recent insights in the role the abnormalities in the GABAergic system play in the disorder. Since the initial observations made that the expression of specific subunits of the GABA(A) receptor were underexpressed in the fragile X knockout mouse model more than a decade ago, evidence has accumulated that the expression of approximately half of the GABAergic system is compromised in multiple species, including in fragile X patients. Functional consequences of the GABAergic deficiencies could be measured using whole-cell voltage clamp recordings. Pharmalogical treatment with agonist of the receptor was been able to restore several behavioral deficits in the fragile X mouse model, including seizures, marble burying and, in part, prepulse inhibition. Trials in patients with the same agonist have demonstrated encouraging post-hoc results in the most severely affected patients, although no effect could be demonstrated in the patient group as a whole. In conclusion, there can be little doubt that the GABAergic system is compromised in the fragile X syndrome and that these abnormalities contribute to the clinical abnormalities observed. However, at the moment the difference in treatment effectiveness of agonist of the receptor in animal models as opposed to in patients remains unexplained.

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