Pubmed du 29/04/20

mercredi 29 avril 2020

1. Athar YM, Joseph S. RNA-Binding Specificity of the Human Fragile X Mental Retardation Protein. Journal of molecular biology. 2020.

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and is caused by a deficiency of the fragile X mental retardation protein (FMRP) in neurons. FMRP regulates the translation of numerous mRNAs within dendritic synapses, but how FMRP recognizes these target mRNAs remains unknown. FMRP has KH0, KH1, KH2, and RGG domains, which are thought to bind to specific RNA recognition elements (RREs). Several studies used high-throughput methods to identify various RREs in mRNAs that FMRP may bind to in vivo. However, there is little overlap in the mRNA targets identified by each study, suggesting that the RNA-binding specificity of FMRP is still unknown. To determine the specificity of FMRP for the RREs, we performed quantitative in vitro RNA binding studies with various constructs of human FMRP. Unexpectedly, our studies show that the KH domains do not bind to the previously identified RREs. To further investigate the RNA-binding specificity of FMRP, we developed a new method called Motif Identification by Analysis of Simple sequences (MIDAS) to identify single-stranded RNA (ssRNA) sequences bound by KH domains. We find that the FMRP KH0, KH1, and KH2 domains bind weakly to the ssRNA sequences suggesting that they may have evolved to bind more complex RNA structures. Additionally, we find that the RGG motif of human FMRP binds with a high affinity to an RNA G-quadruplex (GQ) structure that lacks single-stranded loops, double-stranded stems, or junctions.

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2. Crowley JG, Peterson KM, Fisher WW, Piazza CC. Treating food selectivity as resistance to change in children with autism spectrum disorder. Journal of applied behavior analysis. 2020.

Change-resistant behavior, such as rigid and selective food consumption, is a core symptom of autism that can have significant negative consequences for the child (Flygare Wallen et al., 2018 ; Levy et al., 2019). In the current study, we used a matching-law-based intervention (Fisher et al., 2019) to treat the change-resistant feeding behavior of 7 young children with autism. The feeder gave the participant a choice between a change-resistant and an alternative food during free- and asymmetrical-choice conditions. Alternative-food consumption increased for 2 participants during asymmetrical choice when the feeder provided a preferred item for consuming the alternative food and no programmed consequence for consuming the change-resistant food. Alternative-food consumption increased for the other 5 participants after the feeder exposed at least 1 food to single choice in which the feeder guided the participant to put the bite of alternative food in his or her mouth if he or she did not do so within 8 s of presentation. Effects of the single-choice contingencies maintained during reversals and generalized to other alternative foods the feeder did not expose to single choice. These results are important because participants consumed alternative foods even when their change-resistant foods were present, which is similar to typical mealtime contexts in which children have choices among foods.

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3. Diallo FB, Pelletier E, Vasiliadis HM, Rochette L, Lin E, Smith M, Langille D, Thompspon A, Noiseux M, Vanasse A, St-Laurent D, Kisely S, Fombonne E, Lesage A. Estimation de la prévalence et du taux d’incidence du trouble du spectre de l’autisme (TSA). Comparaison interprovinciale. Sante mentale au Quebec. 2018 ; 43(2) : 65-81.

Objective The prevalence of diagnosed autism spectrum disorders (ASD) has risen steadily over time. There is therefore a need for the monitoring of treated ASD for timely policy making. The objective of this study is to report and compare over a 10-year period the prevalence and incidence rate of diagnosed ASD in four Canadian provinces. Methods This study utilized data from the provinces of Manitoba, Ontario, Quebec and Nova Scotia with access to linked administrative database sources used in the Canadian Chronic Diseases Surveillance Systems to assess the prevalence and incidence rate of a physician diagnosis of ASD. Estimates were produced using health datasets for outpatient and inpatient care (Med-Echo in Quebec, the Canadian Institute of Health Information Discharge Abstract Database in the three other provinces, plus the Ontario Mental Health Reporting System). Dates of service, diagnosis, and physician specialty were extracted. The target population consisted of all residents aged 24 and under eligible for healthcare coverage under provincial law between 1999 and 2012. To be considered as having ASD, an individual had to have at least one physician claim or hospital discharge abstract indicating one of the following : ICD-9 codes 299.0 to 299.9 or their ICD-10 equivalents, F84.0 to F84.9. The estimates were presented in yearly brackets between 1999-2000 and 2011-2012 by sex and age groups. The main analyses focused on those aged 17 years or less, with the 18 to 24 years group added to show the subsequent progression of the disorder. Results Our findings show that the annual prevalence of ASD rose steadily between 1999 and 2012 in all provinces and for all age groups although this increase varied across Canadian provinces. There were higher annual prevalence estimates in Ontario (4.8 per 1,000) and Nova Scotia (4.2 per 1,000) compared to Quebec (3.0 per 1,000) and Manitoba (2.5 per 1,000), among persons aged 17 years and younger in 2011. As compared to 1999, Quebec and Ontario reported a fivefold and fourfold increase in 2010-2012, the highest among provinces. The prevalence was four times higher in boys than in girls. By age group, the highest prevalence was observed in those aged between 1 to 4 and 5 to 9 years depending on the province. ASD was generally diagnosed before age 10. Incident cases were more frequently diagnosed by pediatricians followed by either psychiatrists or general practitioners depending on the province. Conclusion Our research confirms that ASD has risen steadily in terms of prevalence and incidence rate and that it varies considerably across provinces. It also demonstrates that health administrative databases can be used as registers for ASD. Information derived from these databases could support and monitor development of improved coordination and shared care to meet the continuous and changing needs of patients and families over time. Implication for future research include exploring the etiology of ASD in more recent cohorts as well as investigating the association between variations in health service availability and the prevalence of ASD.

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4. Duan S, Lee M, Wolf J, Naples AJ, McPartland JC. Higher Depressive Symptoms Predict Lower Social Adaptive Functioning in Children and Adolescents with ASD. J Clin Child Adolesc Psychol. 2020 : 1-8.

Objective : Despite the frequent occurrence of depressive symptoms in children and adolescents with autism spectrum disorder (ASD), few studies have investigated the relationship between depressive symptoms and adaptive functioning. The present study explored the impact of depressive symptoms on different domains of adaptive functioning in children and adolescents with ASD.Methods : Depressive symptoms and adaptive functioning were analyzed in 62 children and adolescents with ASD (20 females) and 36 children and adolescents (15 females) with typical development between 5 and 18 years of age.Results : After controlling for IQ, age and sex, higher depressive symptoms predicted lower functioning in the social domain among children and adolescents with ASD. Depressive symptoms did not significantly predict communication or daily living skills.Conclusions : These findings highlight the relevance of depression in social adaptive function in ASD and emphasize the importance of assessing depressive symptomatology when evaluating social skills and planning treatment for children and adolescents with ASD.

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5. Dunn K, Rydzewska E, Fleming M, Cooper SA. Prevalence of mental health conditions, sensory impairments and physical disability in people with co-occurring intellectual disabilities and autism compared with other people : a cross-sectional total population study in Scotland. BMJ Open. 2020 ; 10(4) : e035280.

OBJECTIVES : To investigate prevalence of mental health conditions, sensory impairments and physical disability in children, adults and older adults with co-occurring intellectual disabilities and autism, given its frequent co-occurrence, compared with the general population. DESIGN : Whole country cohort study. SETTING : General community. PARTICIPANTS : 5709 people with co-occurring intellectual disabilities and autism, compared with 5 289 694 other people. OUTCOME MEASURES : Rates and ORs with 95% CIs for mental health conditions, visual impairment, hearing impairment and physical disability in people with co-occurring intellectual disabilities and autism compared with other people, adjusted for age, sex and interaction between age and co-occurring intellectual disabilities and autism. RESULTS : All four long-term conditions were markedly more common in children, adults and older adults with co-occurring intellectual disabilities and autism compared with other people. For mental health, OR=130.8 (95% CI 117.1 to 146.1) ; visual impairment OR=65.9 (95% CI 58.7 to 73.9) ; hearing impairment OR=22.0 (95% CI 19.2 to 25.2) ; and physical disability OR=157.5 (95% CI 144.6 to 171.7). These ratios are also greater than previously reported for people with either intellectual disabilities or autism rather than co-occurring intellectual disabilities and autism. CONCLUSIONS : We have quantified the more than double disadvantage for people with co-occurring intellectual disabilities and autism, in terms of additional long-term health conditions. This may well impact on quality of life. It raises challenges for staff working with these people in view of additional complexity in assessments, diagnoses and interventions of additional health conditions, as sensory impairments and mental health conditions in particular, compound with the persons pre-existing communication and cognitive problems in this context. Planning is important, with staff being trained, equipped, resourced and prepared to address the challenge of working for people with these conditions.

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6. Gibbs V, Haas K. Interactions Between the Police and the Autistic Community in Australia : Experiences and Perspectives of Autistic Adults and Parents/Carers. J Autism Dev Disord. 2020.

This study aimed to describe the experiences of autistic people who had interacted with police in Australia in the previous 5 years. Fifty autistic adults and 61 parent/carers completed a questionnaire and 30 participants took part in an interview. Participants were most commonly interacting with police in the context of seeking assistance or as victims of crime. Autistic adults were largely unsatisfied with their interactions and reluctant to disclose their autism. Parent/carers reported significantly higher satisfaction than autistic adults and incidents involving children were rated more highly than those involving adults. Suggestions for improved interactions included increased autism awareness amongst police and use of appropriate accommodations. Areas for future research in relation to the evaluation of police training is discussed.

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7. Momtazmanesh S, Amirimoghaddam-Yazdi Z, Moghaddam HS, Mohammadi MR, Akhondzadeh S. Sulforaphane as an adjunctive treatment for irritability in Autism Spectrum Disorder : a randomized, double-blind, placebo-controlled clinical trial. Psychiatry and clinical neurosciences. 2020.

AIM : Autism Spectrum Disorder (ASD)-related irritability complicates the management of autistic patients at home and clinical settings. In this randomized, double-blind, placebo-controlled clinical trial, we aimed to investigate the beneficial effects of adjuvant treatment with risperidone and sulforaphane in alleviating irritability of ASD patients. METHODS : Sixty drug-free patients, aged 4-12 years, were randomly assigned to two groups receiving risperidone plus sulforaphane or placebo. Risperidone was started with a daily dose of 0.5 mg [>20 kg] and 0.25 mg in others and increased stepwise to reach a maximum of 1 mg [<20 kg], 2.5 mg [20 to <45kg], and 3.5 mg [>45kg]. Sulforaphane was administered with a daily dose of 50 mumol [<45kg] and 100 mumol [>45kg]. The participants were assessed with the Aberrant Behavior Checklist-Community (ABC-C) at baseline, weeks five and ten. RESULTS : Compared to the placebo group, ASD patients in the sulforaphane group showed greater improvements in irritability (primary outcome measure) (p = 0.001), hyperactivity/noncompliance (secondary outcome measure) (p = 0.015), and significant time x treatment effect for irritability (p = 0.007) and hyperactivity/noncompliance (p = 0.008). However, no difference was seen in improvements in the other secondary measures : lethargy/social interaction, stereotypic behavior, inappropriate speech, and frequency of adverse events. CONCLUSION : Our results support the safety and efficacy of sulforaphane as an adjuvant to risperidone for improvement of irritability and hyperactivity symptoms in ASD children. This article is protected by copyright. All rights reserved.

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8. Nitschke A, Deonandan R, Konkle AT. The link between autism spectrum disorder and gut microbiota : A scoping review. Autism. 2020 : 1362361320913364.

LAY ABSTRACT : Gastrointestinal distress and gut microbial imbalances are commonly found in children with autism spectrum disorder, and therefore may play a key role in the development of the disorder. This scoping review aimed to examine the extent, range and nature of research conducted in the past 6 years that focused on furthering our understanding of autism spectrum disorder and its association with gut microbiota. A literature review was performed with predetermined key words. Studies were screened and selected based on defined inclusion and exclusion criteria. A total of 19 studies were included for final analysis. While there are continuous reports of differences in gut microbiota between autism spectrum disorder and neurotypical individuals, knowledge about the consistency in the presence and abundance of bacterial species, as well as metabolites, remains deficient. Treatments such as special diets, vitamin, prebiotic, probiotic, and microbiota transfer therapy show promising therapeutic potential, yet are in their infancy of investigation. Overall, further research with rigorous methodologies is required to support and strengthen the reliability of existing findings. Future research should aim to increase sample sizes, eliminate biases, and subgroup autism spectrum disorder groups to help accommodate for inter-individual variation. As increasing evidence of a unique autism spectrum disorder microbiome and metabolome is acquired, autism spectrum disorder-specific biomarkers can be identified. These biomarkers have great implications in terms of elucidating the molecular mechanisms of autism spectrum disorder, preventing the onset of autism spectrum disorder, and improving treatments for individuals with autism spectrum disorder.

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9. Oztan O, Garner JP, Constantino JN, Parker KJ. Neonatal CSF vasopressin concentration predicts later medical record diagnoses of autism spectrum disorder. Proceedings of the National Academy of Sciences of the United States of America. 2020.

Autism spectrum disorder (ASD) is a brain disorder characterized by social impairments. ASD is currently diagnosed on the basis of behavioral criteria because no robust biomarkers have been identified. However, we recently found that cerebrospinal fluid (CSF) concentration of the "social" neuropeptide arginine vasopressin (AVP) is significantly lower in pediatric ASD cases vs. controls. As an initial step in establishing the direction of causation for this association, we capitalized upon a rare biomaterials collection of newborn CSF samples to conduct a quasi-prospective test of whether this association held before the developmental period when ASD first manifests. CSF samples had been collected in the course of medical care of 0- to 3-mo-old febrile infants (n = 913) and subsequently archived at -70 degrees C. We identified a subset of CSF samples from individuals later diagnosed with ASD, matched them 1:2 with appropriate controls (n = 33 total), and quantified their AVP and oxytocin (OXT) concentrations. Neonatal CSF AVP concentrations were significantly lower among ASD cases than controls and individually predicted case status, with highest precision when cases with comorbid attention-deficit/hyperactivity disorder were removed from the analysis. The associations were specific to AVP, as ASD cases and controls did not differ in neonatal CSF concentrations of the structurally related neuropeptide, OXT. These preliminary findings suggest that a neurochemical marker of ASD may be present very early in life, and if replicated in a larger, prospective study, this approach could transform how ASD is detected, both in behaviorally symptomatic children, and in infants at risk for developing it.

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10. Picot MC, Michelon C, Bertet H, Pernon E, Fiard D, Coutelle R, Abbar M, Attal J, Amestoy A, Duverger P, Ritvo AR, Ritvo ER, Baghdadli A. The French Version of the Revised Ritvo Autism and Asperger Diagnostic Scale : A Psychometric Validation and Diagnostic Accuracy Study. J Autism Dev Disord. 2020.

The early recognition of ASD in adults is challenging, in particular due to the lack of appropriate and robust diagnostic tools. We performed a psychometric validation and diagnostic accuracy study of the French version of the RAADS-R on a sample of 305 adults : 105 with ASD without ID, 99 with psychiatric disorders, and 103 non-psychiatric control groups. The French version of the RAADS-R demonstrates good reliability and diagnostic validity, suggesting that it can help clinicians during the diagnostic process in adults with ASD without ID. However, the finding that a two-factor structure better fits the results requires further validation. This study point out the need of further study of RAADS in psychiatric disorders group due to the relatively high false positive rate (55.6%) of ASD.

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11. Singh K, Singh IN, Diggins E, Connors SL, Karim MA, Lee D, Zimmerman AW, Frye RE. Developmental regression and mitochondrial function in children with autism. Annals of clinical and translational neurology. 2020.

BACKGROUND : Developmental regression (DR) occurs in about one-third of children with Autism Spectrum Disorder (ASD) yet it is poorly understood. Current evidence suggests that mitochondrial function in not normal in many children with ASD. However, the relationship between mitochondrial function and DR has not been well-studied in ASD. METHODS : This cross-sectional study of 32 children, 2 to 8 years old with ASD, with (n = 11) and without (n = 12) DR, and non-ASD controls (n = 9) compared mitochondrial respiration and mtDNA damage and copy number between groups and their relation to standardized measures of ASD severity. RESULTS : Individuals with ASD demonstrated lower ND1, ND4, and CYTB copy number (Ps < 0.01) as compared to controls. Children with ASD and DR had higher maximal oxygen consumption rate (Ps < 0.02), maximal respiratory capacity (P < 0.05), and reserve capacity (P = 0.01) than those with ASD without DR. Coupling Efficiency and Maximal Respiratory Capacity were associated with disruptive behaviors but these relationships were different for those with and without DR. Higher ND1 copy number was associated with better behavior. CONCLUSIONS : This study suggests that individuals with ASD and DR may represent a unique metabolic endophenotype with distinct abnormalities in respiratory function that may put their mitochondria in a state of vulnerability. This may allow physiological stress to trigger mitochondrial decompensation as is seen clinically as DR. Since mitochondrial function was found to be related to ASD symptoms, the mitochondria could be a potential target for novel therapeutics. Additionally, identifying those with vulnerable mitochondrial before DR could result in prevention of ASD.

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12. Strand M. Eggs, sugar, grated bones : colour-based food preferences in autism, eating disorders, and beyond. Medical humanities. 2020.

In 1913, eccentric French composer Erik Satie wrote a fragmentary, diary-like essay where he depicted a strikingly rigid diet consisting solely of white foods : eggs, sugar, coconuts, rice, cream cheese, fuchsia juice and so on. Satie’s brief essay has later been used as one of many puzzle pieces in attempts to retrospectively diagnose him with autism spectrum disorder. With Satie’s white meal as a starting point, this paper explores colour-based food preferences and selective eating in clinical and non-clinical populations, with a special focus on autism spectrum disorder and avoidant/restrictive food intake disorder (ARFID). General colour preferences and their causes as well as the impact of colour on taste and food identification are also explored. Selective eating during childhood is immensely common and does not generally lead to disordered eating in the long run, although subgroups may experience rigidity around food of a more enduring nature. Problems related to eating were repeatedly described in Kanner’s original 1943 autism case series and continue to be common in autism. Most studies on eating and sensory sensitivity in autism show that the texture and consistency of the food are the most common factors behind selective eating. In contrast, colour-based food preferences appear to be relatively rare, although numerous anecdotal reports exist. Foods that are white or colourless may be particularly appealing or tolerable for individuals with sensory hypersensitivity, which can occur in autism or ARFID. Ultimately, in the case of Erik Satie, this paper concludes that his description of a strictly white diet should not be read as an autobiographical account but rather as an ironic take on contemporary symbolist literature, with the famously decadent all-black dinner party in French novelist Joris-Karl Huysmans’ A Rebours (1884 ; also known as Against Nature) as an obvious source of inspiration.

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