Pubmed du 18/07/20

samedi 18 juillet 2020

1. Alkire D, Warnell KR, Kirby LA, Moraczewski D, Redcay E. Explaining Variance in Social Symptoms of Children with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

The social symptoms of autism spectrum disorder are likely influenced by multiple psychological processes, yet most previous studies have focused on a single social domain. In school-aged autistic children (n = 49), we compared the amount of variance in social symptoms uniquely explained by theory of mind (ToM), biological motion perception, empathy, social reward, and social anxiety. Parent-reported emotional contagion-the aspect of empathy in which one shares another’s emotion-emerged as the most important predictor, explaining 11-14% of the variance in social symptoms, with higher levels of emotional contagion predicting lower social symptom severity. Our findings highlight the role of mutual emotional experiences in social-interactive success, as well as the limitations of standard measures of ToM and social processing in general.

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2. Baker EK, Arpone M, Kraan C, Bui M, Rogers C, Field M, Bretherton L, Ling L, Ure A, Cohen J, Hunter MF, Santa María L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende A, Amor DJ, Godler DE. FMR1 mRNA from full mutation alleles is associated with ABC-C(FX) scores in males with fragile X syndrome. Sci Rep. 2020 ; 10(1) : 11701.

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-C(FX)) in 62 males affected with FXS (3 to 32 years) stratified based on presence or absence of mosaicism and/or FMR1 mRNA silencing. Associations between ABC-C(FX) subscales and FMR1 mRNA levels, assessed using real-time PCR relative standard curve method, were also examined. The FXS group mosaic for premutation (PM : 55-199 CGGs) and FM alleles had lower irritability (p = 0.014) and inappropriate speech (p < 0.001) scores compared to males with only FM alleles and complete loss of FMR1 mRNA. The PM/FM mosaic group also showed lower inappropriate speech scores compared to the incomplete silencing (p = 0.002) group. Increased FMR1 mRNA levels were associated with greater irritability (p < 0.001), and lower health-related quality of life scores (p = 0.004), but only in the incomplete silencing FM-only group. The findings suggest that stratification based on CGG sizing and FMR1 mRNA levels may be warranted in future research and clinical trials utilising ABC-C(FX) subscales as outcome measures.

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3. Bowden N, Thabrew H, Kokaua J, Audas R, Milne B, Smiler K, Stace H, Taylor B, Gibb S. Autism spectrum disorder/Takiwātanga : An Integrated Data Infrastructure-based approach to autism spectrum disorder research in New Zealand. Autism. 2020 : 1362361320939329.

New Zealand has few estimates of the prevalence autism spectrum disorder and no national registry or data set to identify and track cases. This hinders the ability to make informed, evidence-based decisions relating to autism spectrum disorder. In this study, we utilised linked health and non-health data to develop a method for identifying cases of autism spectrum disorder among children and young people in New Zealand. In addition, we examined rates of co-occurring mental health, neurodevelopmental and related conditions among this cohort and compared these to the general population. The method identified almost 10,000 children and young people with autism spectrum disorder in New Zealand. Co-occurring mental health or related problems were found in over 68% of this group (nearly seven times higher than the general population), and around half were identified with multiple co-occurring conditions. The most frequently identified conditions were intellectual disability, disruptive behaviours and emotional problems. We have developed a useful method for monitoring service and treatment-related trends, number and types of co-occurring conditions and examining social outcomes among individuals with autism spectrum disorder. While the method may underestimate the prevalence of autism spectrum disorder in New Zealand, it provides a significant step towards establishing a more comprehensive evidence base to inform autism spectrum disorder-related policy.

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4. Dieu-Osika S, Bossière MC, Osika E. Early Media Overexposure Syndrome Must Be Suspected in Toddlers Who Display Speech Delay With Autism-Like Symptoms. Global pediatric health. 2020 ; 7 : 2333794x20925939.

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5. Digard BG, Sorace A, Stanfield A, Fletcher-Watson S. Bilingualism in autism : Language learning profiles and social experiences. Autism. 2020 : 1362361320937845.

Bilingualism changes the way people relate to others. This is particularly interesting in the case of autism, where social interaction presents many challenges. A better understanding of the overlap between the social variations of bilingualism and autism could unveil new ways to support the social experiences of autistic people. This research aims to understand the language learning and social experiences of autistic people who speak one, two or more languages. A total of 297 autistic adults (aged between 16 and 80 years) completed an online questionnaire that included general demographic questions, social life quality self-rating questions, language history questions, and open questions about the respondents’ bilingualism experience. Respondents had a wide range of language experiences : there were 89 monolingual English speakers, 98 bilinguals, 110 respondents knew three languages or more, all with a wide range of abilities in their languages. In the full group, younger respondents were more satisfied with their social life, and respondents with many languages were more satisfied with their social life than respondents with few languages. In the multilingual group, younger respondents were more satisfied with their social life, and the more skilled in their third language the more satisfied with their social life. This is the first study describing the language history and social experiences of a large group of bilingual and multilingual autistic adults. It highlights how autistic people can encounter a new language, learn it and use it in their daily life, and how their bilingualism experiences shape their social life.

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6. Garcia Primo P, Weber C, Posada de la Paz M, Fellinger J, Dirmhirn A, Holzinger D. Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria. Brain Sci. 2020 ; 10(7).

This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main diagnostic centre for ASD in Upper Austria (ii) factors related to the age at diagnosis and (iii) whether specific factors differed between the two groups. A retrospective chart analysis included all children who received their first diagnosis before the age of 10 years (n = 211) between 2013 and 2018. Children with a migrant background were diagnosed 13 months earlier than those without (r = 0.278, p < 0.001), and had more severe delays in language, more severe autism, no Asperger’s syndrome, lower parental educational level and more frequent referrals by paediatricians. For the total sample, expressive language delay, severity of restricted and repetitive behaviours, higher nonverbal development, and paediatric referrals explained earlier diagnoses. There was a stronger effect of parental education and weaker effect of language impairment on age at ASD diagnosis in children with a migrant background. In conclusion, no delay in diagnosing ASD in children with a migrant background in a country with universal health care and an established system of paediatric developmental surveillance was found. Awareness of ASD, including Asperger’s syndrome, should be raised among families and healthcare professionals.

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7. Hawlader MDH, Alam MM, Zaman S, Ara A, Nasrin P, Akter S, Nabi MH. Prenatal, perinatal, and postnatal determinants of autism spectrum disorder (ASD) in Bangladesh : A school-based comparative study. Asian J Psychiatr. 2020 ; 54 : 102304.

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8. Johnson NL, Krueger W, Jilek E, Haglund K. Conversations With Health Care Providers and Parents Before Autism Diagnosis : A Qualitative Study. J Pediatr Health Care. 2020.

INTRODUCTION : The purpose of this study was to explore communication with health care providers from the perceptions of parents before their child’s diagnosis of autism spectrum disorder and provide some examples of how communication may contribute to the autism diagnosis. METHOD : This study used a qualitative descriptive design with multiple individual structured in-person interviews. RESULTS : Three themes captured parents’ (n = 8) descriptions of the phases of communication during their children’s diagnoses including, (1) anguished questioning, (2) urgently seeking help, and (3) expecting a diagnosis. In addition, three themes characterized the communication style that parents needed, although not always received, in each of the periods of diagnosis including (1) compassionate curiosity, (2) acknowledgment and affirmation, and (3) engagement with parents. DISCUSSION : Results point to opportunities for pediatric providers to use a more empathic and engaging communication style during the diagnostic process with better identification of education and support needed by parents and families.

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9. McCauley JB, Elias R, Lord C. Trajectories of co-occurring psychopathology symptoms in autism from late childhood to adulthood. Development and psychopathology. 2020 : 1-16.

Given high rates of co-occurring conditions in youth and adults with autism spectrum disorder (ASD), it is critical to examine the developmental trajectories of these symptoms of psychopathology. Using data from a cohort of participants (n = 194), most of whom were first assessed for ASD in very early childhood, we investigated the trajectories of co-occurring depressive, anxiety, and attention-deficit hyperactivity disorder (ADHD) symptoms from late childhood to adulthood. Additionally, childhood predictors and adult outcomes associated with these symptom trajectories were examined. Using group-based trajectory modeling, we found two distinct classes of individuals exhibiting each of these co-occurring symptom patterns : one class exhibited fairly low symptoms across time, and one class with elevated symptoms with varied fluctuation across time (ADHD symptoms starting high but decreasing, anxiety symptoms high and stable, and depressive symptoms fluctuating but peaking at clinically significant levels in young adulthood). All high trajectory classes were associated with age 9 adaptive skills ; verbal IQ predicted higher anxiety and depressive symptom classes. After accounting for verbal IQ, all high symptom trajectory classes were negative predictors of objective adult outcomes. These findings call for wide-ranging considerations of the needs of individuals across ability levels, autism symptoms, and behavioral and emotional challenges.

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10. Recio P, Molero F, García-Ael C, Pérez-Garín D. Perceived discrimination and self-esteem among family caregivers of children with autism spectrum disorders (ASD) and children with intellectual disabilities (ID) in Spain : The mediational role of affiliate stigma and social support. Res Dev Disabil. 2020 ; 105 : 103737.

BACKGROUND : People with autism spectrum disorders (ASD) and people with intellectual disabilities (ID) are stigmatized, and therefore discriminated against worldwide and, on many occasions, this stigma and discrimination are expanded to include their family caregivers. The main objective of this research was to examine the consequences of perceived discrimination on family caregivers of children with ASD and children with ID. METHODS : The sample consisted of 109 Spanish caregivers of children with ASD and 83 caregivers of children with ID. They completed four questionnaires : Multidimensional Perceived Discrimination Scale, Affiliate Stigma Scale, Social Support Questionnaire and Rosenberg Self-Esteem Scale. RESULTS : Using path analysis, we found support for a model in which personal discrimination perceived by caregivers was positively associated with affiliate stigma, which, in turn, was negatively related to caregivers’ self-esteem. The model also shows the total mediational role of affiliate stigma in the association between perceived discrimination and self-esteem and the partial mediational role that social support plays in the association between perceived discrimination and caregivers’ self-esteem. CONCLUSIONS : Caregivers’ perceived discrimination negatively influences caregivers’ self-esteem, but this relationship is mediated by both affiliate stigma (totally) and social support (partially). These results have theoretical and practical implications and may contribute to improving the quality of life of parents of children with ASD and ID that in turn would result in an improvement of the quality of life of their children.

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11. Shmarina GV, Ershova ES, Simashkova NV, Nikitina SG, Chudakova JM, Veiko NN, Porokhovnik LN, Basova AY, Shaposhnikova AF, Pukhalskaya DA, Pisarev VM, Korovina NJ, Gorbachevskaya NL, Dolgikh OA, Bogush M, Kutsev SI, Kostyuk SV. Oxidized cell-free DNA as a stress-signaling factor activating the chronic inflammatory process in patients with autism spectrum disorders. J Neuroinflammation. 2020 ; 17(1) : 212.

BACKGROUND : Autism spectrum disorders (ASD) are known to be associated with an inflammatory process related to immune system dysfunction. This study’s aim was to investigate the role of cell-free DNA in chronic inflammatory process in ASD patients. METHODS : The study included 133 ASD patients and 27 healthy controls. Sixty-two ASD patients were demonstrated to have mild-to-moderate disease severity (group I) and 71 individuals to have severe ASD (group II). Plasma cell-free (cf) DNA characteristics, plasma cytokine concentrations, expression of the genes for NFкB1 transcription factor and pro-inflammatory cytokines TNFα, IL-1β and IL-8 in peripheral blood lymphocytes (PBL) of ASD patients, and unaffected controls were investigated. Additionally, in vitro experiments with oxidized DNA supplementation to PBL cultures derived from ASD patients and healthy controls were performed. RESULTS : The data indicates that ASD patients have demonstrated increased cfDNA concentration in their circulation. cfDNA of patients with severe ASD has been characterized by a high abundance of oxidative modification. Furthermore, ASD patients of both groups have shown elevated plasma cytokine (IL-1β, IL-8, IL-17A) levels and heightened expression of genes for NFкB1 nuclear factor and pro-inflammatory cytokines TNFα, IL-1β, and IL-8 in PBL. In vitro experiments have shown that NF-κB/cytokine mRNA expression profiles of ASD patient PBL treated with oxidized DNA fragments were significantly different from those of healthy controls. CONCLUSIONS : It may be proposed that oxidized cfDNA plays a role of stress-signaling factor activating the chronic inflammatory process in patients with ASD.

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