Pubmed du 03/07/20

vendredi 3 juillet 2020

1. Ben-Ari Y. [Changing software to understand and treat autism : replacing genetic reductionism by study of maternity and birth]. Med Sci (Paris) ;2020 (Jun-Jul) ;36(6-7):547-549.

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2. Cai RY, Uljarević M, Leekam SR. Predicting Mental Health and Psychological Wellbeing in Mothers of Children with Autism Spectrum Disorder : Roles of Intolerance of Uncertainty and Coping. Autism Res ;2020 (Jul 3)

Research has consistently shown that parents of children with autism spectrum disorder (ASD) are more likely to report chronic stress and symptoms of psychopathology when compared to parents of typically developing children and children with other psychological or physical conditions. Certain individual characteristics might either put parents at risk or allow them to cope more effectively under the strenuous conditions of raising children with neurodevelopmental conditions. Previous research has suggested that higher levels of intolerance of uncertainty and certain coping styles are associated with higher parental levels of anxiety and depression. The aim of this study is to characterize the way in which intolerance of uncertainty and coping (avoidant and problem-focused coping) predict mental health and psychological wellbeing in parents of children with ASD. Only mothers participated in this study. Fifty mothers (M(age) = 44.28 years, SD(age) = 6.58) of children with ASD completed questionnaires assessing anxiety and depression, psychological wellbeing, intolerance of uncertainty, and avoidant and problem-focused coping. The results from this study provide preliminary evidence that higher use of problem-focused coping but not avoidant coping and intolerance of uncertainty predicts psychological wellbeing. Furthermore, our observation of greater intolerance of uncertainty and higher use of avoidant coping predicting anxiety and depression supports previous research. The findings from this study have implications for the development of intervention programs to help improve the mental health and psychological wellbeing of parents. LAY SUMMARY : This research studied the factors that impact the mental health of parents of children on the autism spectrum. We found that mothers, who are not comfortable with uncertainty, use more avoidant coping, and less problem-focused coping have poorer mental health. Identifying these factors is a crucial first step in developing intervention programs to help improve the mental health of parents.

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3. Crunkhorn S. Rebalancing protein synthesis in fragile X syndrome. Nat Rev Drug Discov ;2020 (Jul) ;19(7):446.

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4. Eissa N, Sadeq A, Sasse A, Sadek B. Role of Neuroinflammation in Autism Spectrum Disorder and the Emergence of Brain Histaminergic System. Lessons Also for BPSD ?. Front Pharmacol ;2020 ;11:886.

Many behavioral and psychological symptoms of dementia (BPSD) share similarities in executive functioning and communication deficits with those described in several neuropsychiatric disorders, including Alzheimer’s disease (AD), epilepsy, schizophrenia (SCH), and autism spectrum disorder (ASD). Numerous studies over the last four decades have documented altered neuroinflammation among individuals diagnosed with ASD. The purpose of this review is to examine the hypothesis that central histamine (HA) plays a significant role in the regulation of neuroinflammatory processes of microglia functions in numerous neuropsychiatric diseases, i.e., ASD, AD, SCH, and BPSD. In addition, this review summarizes the latest preclinical and clinical results that support the relevance of histamine H1-, H2-, and H3-receptor antagonists for the potential clinical use in ASD, SCH, AD, epilepsy, and BPSD, based on the substantial symptomatic overlap between these disorders with regards to cognitive dysfunction. The review focuses on the histaminergic neurotransmission as relevant in these brain disorders, as well as the effects of a variety of H3R antagonists in animal models and in clinical studies.

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5. Ghuman A, Close A, Malec L. Case 3 : Cytopenias and Myelopathy in a 15-year-old Boy with Autism. Pediatr Rev ;2020 (Jul) ;41(7):365-368.

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6. Hadjipanayi C, Michael-Grigoriou D. Conceptual knowledge and sensitization on Asperger’s syndrome based on the constructivist approach through virtual reality. Heliyon ;2020 (Jun) ;6(6):e04145.

The immense capabilities provided by virtual reality for enhancing empathy and altering social behaviors, make it possible to use virtual reality for the promotion of the understanding between individuals. A social issue that needs to be addressed is the discrimination and marginalization of people with Asperger’s syndrome (AS) from the working force, stemming from the lack of recognition and justification of their oddities. In this paper, the effectiveness of a virtual reality simulation, raising awareness on this specific issue, is evaluated. Awareness is a term used in this research to refer to the combination of conceptual knowledge and sensitization on a specific issue. An experiment with between-group design has been carried out, where half of the participants used the simulation via a VR headset device and the other half was given a transcript of relevant medical articles instead. The comparison between the two groups indicates that the group which used the simulation gained more knowledge on AS than the group which used the transcript. Moreover, the parameter of sensitization indicates positive correlations with place illusion in the VR group.

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7. Jain A, Tiwari S, Padickaparambil S. Cross-Disciplinary Appraisal of Knowledge and Beliefs Regarding the Diagnosis of Autism Spectrum Disorders in India : A Cross-Sectional Survey. Indian J Psychol Med ;2020 (May-Jun) ;42(3):219-224.

BACKGROUND : Many healthcare professionals, including pediatricians, psychiatrists, Clinical Psychologists (CPs), Occupational Therapists (OTs), and Speech-Language Pathologists (SLPs), are involved in the identification and intervention of Autism Spectrum Disorders (ASD) in children. Distinctive training backgrounds and professional exposure can result in contrasting ideas regarding the assessment, diagnosis, and treatment of ASD. Only a few studies have addressed the cross-disciplinary perspective of knowledge, belief, and awareness about diagnostic criteria required for diagnosing ASD. MATERIALS AND METHODS : A total of 154 allied healthcare professionals (98 SLPs, 33 CPs, and 23 OTs) participated in the study. The survey tool used for this study was adapted from a previously available survey on the assessment of knowledge and belief about ASD and self-efficacy. RESULTS : The overall knowledge and belief of allied healthcare professionals regarding ASD differed significantly across the groups. However, the knowledge of Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) diagnostic criteria for ASD did not differ significantly between the groups. CONCLUSION : Our findings have salient clinical implications and advocates for the continued education of healthcare professionals in India regarding recent diagnostic criteria for ASD.

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8. Klein-Tasman BP. Are the autism symptoms in neurofibromatosis type 1 actually autism ?. Dev Med Child Neurol ;2020 (Jul 2)

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9. Nuñez-Rios DL, Chaskel R, Lopez A, Galeano L, Lattig MC. The role of 5-HTTLPR in autism spectrum disorder : New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders. PLoS One ;2020 ;15(7):e0235512.

The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The short (S)/long (L) 5-HTTLPR polymorphism has a functional role in the regulation of extracellular serotonin levels and both alleles have been associated to ASD. Most studies including European, American, and Asian populations have suggested an ethnical heterogeneity of this polymorphism ; however, the short/long frequencies from Latin American population have been under-studied in recent meta-analysis. Here, we evaluated the 5-HTTLPR polymorphism in Colombian individuals with idiopathic ASD and reported a non-preferential S or L transmission and a non-association with ASD risk or symptom severity. Moreover, to recognize the allelic frequencies of an under-represented population we also recovered genetic studies from Latin American individuals and compared these frequencies with frequencies from other ethnicities. Results from meta-analysis suggest that short/long frequencies in Latin American are similar to those reported in Caucasian population but different to African and Asian regions.

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10. Ollendick T, Muskett A, Radtke SR, Smith I. Adaptation of One-Session Treatment for Specific Phobias for Children with Autism Spectrum Disorder Using a Non-concurrent Multiple Baseline Design : A Preliminary Investigation. J Autism Dev Disord ;2020 (Jul 1)

Anxiety disorders are among the most common co-occurring disorders for individuals with ASD. Several adaptations to cognitive behavioral approaches have been proposed for this population (Moree & Davis, 2010). The current study examined feasibility and preliminary efficacy of an ASD-specific adaptation of one-session treatment (OST) for specific phobia (SP). Standard OST consists of one 3-h session followed by four weekly phone calls. Modifications for ASD included increased parental involvement, use of visual aids, and inclusion of four 1-h booster sessions in place of the four weekly phone calls. Visual inspection and Friedman tests revealed significant reductions in fear ratings and phobia severity from pre- to post-treatment and follow-up assessments. Modest changes were observed in behavioral avoidance. These findings provide initial evidence that this treatment merits further study.

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11. Pankert K, Pankert A, Lotter LD, Herpertz-Dahlmann B, Konrad K. [Autism spectrum symptoms in children with congenital blindness]. Z Kinder Jugendpsychiatr Psychother ;2020 (Jul) ;48(4):289-302.

Autism spectrum symptoms in children with congenital blindness Abstract. Objective : Previous studies reported increased rates of autistic symptoms in children with impaired visual abilities (IV). However, the application of existing screening questionnaires for autism spectrum disorders (ASD) proved problematic, as intact visual abilities are typically required. The current study examines the general applicability of three autism-screening questionnaires in children with congenital blindness. Methods : Autistic symptoms were assessed in 15 children with congenital blindness, 15 children with ASD (without IV), and 20 typically developing controls (aged from 8 to 14 years), using the Social Communication Questionnaire, the Marburg Rating Scale for Asperger’s Syndrome, and the Social Responsiveness Scale. Results : Items assessing motor, mimic/gesture-related, or joint attention deficits were identified as highly prevalent in children with congenital blindness. These children scored, in general, higher on ASD-screening questionnaires than typically developing controls but lower than sighted children with ASD. Depending on the screening questionnaire used, between 23 % and 67 % of the sample with congenital blindness reached clinical cutoff scores for ASD. SRS total score was negatively correlated to cognitive empathy and verbal IQ in those children. Conclusions : Mothers of children with congenital blindness reported increased autistic symptoms in ASD-screening questionnaires. ASD and IV might share a broad range of symptoms. Future development and validation of screening instruments specifically adapted to the needs of persons with impaired visual abilities seem necessary.

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12. Selvakumar N, Panicker AS. Stress and Coping Styles in Mothers of Children with Autism Spectrum Disorder. Indian J Psychol Med ;2020 (May-Jun) ;42(3):225-232.

BACKGROUND : Children with autism spectrum disorder (ASD) require well-balanced care and a comprehensive therapeutic approach. Mental health problems often go unnoticed in mothers of children with ASD due to the focus on training for the children. The presence of stress and depressive symptoms in mothers can interfere with the quality of care and therapy given to the child. The present study aimed to assess the quality of life, coping styles, and symptoms of depression, anxiety, and stress in mothers of children with ASD. METHODS : This study recruited thirty mothers of children with ASD, to whom Depression, Anxiety and Stress Scale (DASS 21), WHO Quality of Life Scale (WHOQOL-BREF), and COPE Inventory were administered. RESULTS : Results indicated the presence of depressive and anxiety symptoms and impaired quality of life among the mothers. Despite this, they exhibited positive coping styles. CONCLUSION : As part of a comprehensive intervention for children with ASD, there is also a need to address the psychological distress and coping styles of mothers.

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13. Seymour RA, Rippon G, Gooding-Williams G, Sowman PF, Kessler K. Reduced auditory steady state responses in autism spectrum disorder. Mol Autism ;2020 (Jul 1) ;11(1):56.

BACKGROUND : Auditory steady state responses (ASSRs) are elicited by clicktrains or amplitude-modulated tones, which entrain auditory cortex at their specific modulation rate. Previous research has reported reductions in ASSRs at 40 Hz for autism spectrum disorder (ASD) participants and first-degree relatives of people diagnosed with ASD (Mol Autism. 2011 ;2:11, Biol Psychiatry. 2007 ;62:192-197). METHODS : Using a 1.5 s-long auditory clicktrain stimulus, designed to elicit an ASSR at 40 Hz, this study attempted to replicate and extend these findings. Magnetencephalography (MEG) data were collected from 18 adolescent ASD participants and 18 typically developing controls. RESULTS : The ASSR localised to bilateral primary auditory regions. Regions of interest were thus defined in left and right primary auditory cortex (A1). While the transient gamma-band response (tGBR) from 0-0.1 s following presentation of the clicktrain stimulus was not different between groups, for either left or right A1, the ASD group had reduced oscillatory power at 40 Hz from 0.5 to 1.5 s post-stimulus onset, for both left and right A1. Additionally, the ASD group had reduced inter-trial coherence (phase consistency over trials) at 40 Hz from 0.64-0.82 s for right A1 and 1.04-1.22 s for left A1. LIMITATIONS : In this study, we did not conduct a clinical autism assessment (e.g. the ADOS), and therefore, it remains unclear whether ASSR power and/or ITC are associated with the clinical symptoms of ASD. CONCLUSION : Overall, our results support a specific reduction in ASSR oscillatory power and inter-trial coherence in ASD, rather than a generalised deficit in gamma-band responses. We argue that this could reflect a developmentally relevant reduction in non-linear neural processing.

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14. Skalny AV, Mazaletskaya AL, Ajsuvakova OP, Bjørklund G, Skalnaya MG, Chernova LN, Skalny AA, Tinkov AA. Magnesium Status in Children with Attention-Deficit/Hyperactivity Disorder and/or Autism Spectrum Disorder. Soa Chongsonyon Chongsin Uihak ;2020 (Jan 1) ;31(1):41-45.

OBJECTIVE : The objective of this study was to assess serum, hair, and urinary magnesium (Mg) levels in children with attention-deficit/ hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and both ASD and ADHD to reveal potential interactive effects. METHODS : A total of 148 boys aged 4-9 years old were enrolled in this study, including 44 children with ADHD, 40 pediatric patients with ASD, 32 patients with both ADHD and ASD, as well as 32 healthy neurotypical children. Hair, serum, and urinary Mg levels were assessed using inductively-coupled plasma mass spectrometry (ICP-MS). Laboratory quality control was performed using certified reference materials of human hair, plasma, and urine. RESULTS : No significant group difference in serum Mg levels was observed. Mg content in hair was found to be reduced in children with ADHD and ADHD+ASD compared to that in healthy controls by 11% and 15%, respectively. Urinary Mg levels in children with ADHD+ASD exceeded the control, ADHD, and ASD values by 51, 76, and 65%, respectively. Factorial analysis revealed significant contribution of ADHD to hair and urinary Mg levels. Multiple regression analysis demonstrated that hair and urinary Mg levels were considered as significant predictors of neurodevelopmental disorder complexity. CONCLUSION : We propose that impaired Mg status may provide a link between ADHD and ASD.

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15. Smith TF, Kaczorowski JA, Acosta MT. An executive functioning perspective in neurofibromatosis type 1 : from ADHD and autism spectrum disorder to research domains. Childs Nerv Syst ;2020 (Jul 3)

PURPOSE : Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heightened risk for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The goal of this paper is to understand how EFs provide a common foundation to understand vulnerabilities for ADHD and ASD within NF1. METHODS : A literature review and synthesis was conducted. RESULTS : EF difficulties in working memory, inhibitory control, cognitive flexibility, and planning are evident in NF1, ADHD, and ASD. However, relatively little is known about the heterogeneity of EFs and ADHD and ASD outcomes in NF1. Assessment of ADHD and ASD in NF1 is based on behavioral symptoms without understanding neurobiological contributions. Recent efforts are promoting the use of dimensional and multidisciplinary methods to better understand normal and abnormal behavior, including integrating information from genetics to self-report measures. CONCLUSION : NF1 is a monogenic disease with well-developed molecular and phenotypic research as well as complementary animal models. NF1 presents an excellent opportunity to advance our understanding of the neurobiological impact of known pathogenic variation in normal and abnormal neural pathways implicated in human psychopathology. EFs are core features of NF1, ADHD, and ASD, and these neurodevelopmental outcomes are highly prevalent in NF1. We propose a multilevel approach for understanding EFs in patients with NF1.This is essential to advance targeted interventions for NF1 patients and to advance the exciting field of research in this condition.

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16. Srinivasaraghavan R, Koshy B, Devarajan C, Beulah R, Glory L, Manoharan M. The Impact of Autism Spectrum Disorder in Comparison with Other Neuro-Developmental Disorders in Children on the Family : Single Centre Experience. Indian J Psychol Med ;2020 (May-Jun) ;42(3):233-237.

BACKGROUND : Neurodevelopmental disorders (NDD), especially autism spectrum disorder (ASD), have a substantial impact on the family, with a consequent decrease in the quality of life. The current study was undertaken to understand if having ASD contributed to a higher impact on families compared to other NDD and to understand additional factors impacting families of children with either disorder in a low-middle income country (LMIC) setting. METHODS : Impact of ASD and other NDD along with sociodemographic factors was examined, by a retrospective analysis, among 540 children in a tertiary care center in South India. RESULTS : Both ASD and NDD had high, but comparable, impact on the family. Being a girl child, having seizures, and having sleep problems predicted a higher impact. CONCLUSIONS : In children with NDD, managing co-morbidities such as achieving better seizure control and addressing sleep-related problems may improve the impact of NDD on the family. Gender disparity in disability needs to be studied within the local cultural context.

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17. Tillmann J, Tuomainen J, Swettenham J. The Effect of Visual Perceptual Load on Auditory Awareness of Social vs. Non-social Stimuli in Individuals with Autism. J Autism Dev Disord ;2020 (Jul 1)

This study examined the effect of increasing visual perceptual load on auditory awareness for social and non-social stimuli in adolescents with autism spectrum disorder (ASD, n = 63) and typically developing (TD, n = 62) adolescents. Using an inattentional deafness paradigm, a socially meaningful (’Hi’) or a non-social (neutral tone) critical stimulus (CS) was unexpectedly presented under high and low load. For the social CS both groups continued to show high awareness rates as load increased. Awareness rates for the non-social stimulus were reduced when load increased for the TD, but not the ASD group. The findings indicate enhanced capacity for non-social stimuli in ASD compared to TD, and a special attentional status for social stimuli in the TD group.

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18. Valiyamattam GJ, Katti H, Chaganti VK, O’Haire ME, Sachdeva V. Do Animals Engage Greater Social Attention in Autism ? An Eye Tracking Analysis. Front Psychol ;2020 ;11:727.

BACKGROUND : Visual atypicalities in autism spectrum disorder (ASD) are a well documented phenomenon, beginning as early as 2-6 months of age and manifesting in a significantly decreased attention to the eyes, direct gaze and socially salient information. Early emerging neurobiological deficits in perceiving social stimuli as rewarding or its active avoidance due to the anxiety it entails have been widely purported as potential reasons for this atypicality. Parallel research evidence also points to the significant benefits of animal presence for reducing social anxiety and enhancing social interaction in children with autism. While atypicality in social attention in ASD has been widely substantiated, whether this atypicality persists equally across species types or is confined to humans has not been a key focus of research insofar. METHODS : We attempted a comprehensive examination of the differences in visual attention to static images of human and animal faces (40 images ; 20 human faces and 20 animal faces) among children with ASD using an eye tracking paradigm. 44 children (ASD n = 21 ; TD n = 23) participated in the study (10,362 valid observations) across five regions of interest (left eye, right eye, eye region, face and screen). RESULTS : Results obtained revealed significantly greater social attention across human and animal stimuli in typical controls when compared to children with ASD. However in children with ASD, a significantly greater attention allocation was seen to animal faces and eye region and lesser attention to the animal mouth when compared to human faces, indicative of a clear attentional preference to socially salient regions of animal stimuli. The positive attentional bias toward animals was also seen in terms of a significantly greater visual attention to direct gaze in animal images. CONCLUSION : Our results suggest the possibility that atypicalities in social attention in ASD may not be uniform across species. It adds to the current neural and biomarker evidence base of the potentially greater social reward processing and lesser social anxiety underlying animal stimuli as compared to human stimuli in children with ASD.

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19. Yost RT, Robinson JW, Baxter CM, Scott AM, Brown LP, Aletta MS, Hakimjavadi R, Lone A, Cumming RC, Dukas R, Mozer B, Simon AF. Abnormal Social Interactions in a Drosophila Mutant of an Autism Candidate Gene : Neuroligin 3. Int J Mol Sci ;2020 (Jun 29) ;21(13)

Social interactions are typically impaired in neuropsychiatric disorders such as autism, for which the genetic underpinnings are very complex. Social interactions can be modeled by analysis of behaviors, including social spacing, sociability, and aggression, in simpler organisms such as Drosophila melanogaster. Here, we examined the effects of mutants of the autism-related gene neuroligin 3 (nlg3) on fly social and non-social behaviors. Startled-induced negative geotaxis is affected by a loss of function nlg3 mutation. Social space and aggression are also altered in a sex- and social-experience-specific manner in nlg3 mutant flies. In light of the conserved roles that neuroligins play in social behavior, our results offer insight into the regulation of social behavior in other organisms, including humans.

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