Pubmed du 26/01/21

mardi 26 janvier 2021

1. Correction for Pu et al., Maternal glyphosate exposure causes autism-like behaviors in offspring through increased expression of soluble epoxide hydrolase. Proc Natl Acad Sci U S A ;2021 (Feb 2) ;118(5)

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2. An KM, Ikeda T, Hasegawa C, Yoshimura Y, Tanaka S, Saito DN, Yaoi K, Iwasaki S, Hirosawa T, Jensen O, Kikuchi M. Aberrant brain oscillatory coupling from the primary motor cortex in children with autism spectrum disorders. Neuroimage Clin ;2021 (Jan 14) ;29:102560.

Autism spectrum disorder (ASD) often involves dysfunction in general motor control and motor coordination, in addition to core symptoms. However, the neural mechanisms underlying motor dysfunction in ASD are poorly understood. To elucidate this issue, we focused on brain oscillations and their coupling in the primary motor cortex (M1). We recorded magnetoencephalography in 18 children with ASD, aged 5 to 7 years, and 19 age- and IQ-matched typically-developing children while they pressed a button during a video-game-like motor task. The motor-related gamma (70 to 90 Hz) and pre-movement beta oscillations (15 to 25 Hz) were analyzed in the primary motor cortex using an inverse method. To determine the coupling between beta and gamma oscillations, we applied phase-amplitude coupling to calculate the statistical dependence between the amplitude of fast oscillations and the phase of slow oscillations. We observed a motor-related gamma increase and a pre-movement beta decrease in both groups. The ASD group exhibited a reduced motor-related gamma increase and enhanced pre-movement beta decrease in the ipsilateral primary motor cortex. We found phase-amplitude coupling, in which high-gamma activity was modulated by the beta rhythm in the primary motor cortex. Phase-amplitude coupling in the ipsilateral primary motor cortex was reduced in the ASD group compared with the control group. Using oscillatory changes and their couplings, linear discriminant analysis classified the ASD and control groups with high accuracy (area under the receiver operating characteristic curve : 97.1%). The current findings revealed alterations in oscillations and oscillatory coupling, reflecting the dysregulation of motor gating mechanisms in ASD. These results may be helpful for elucidating the neural mechanisms underlying motor dysfunction in ASD, suggesting the possibility of developing a biomarker for ASD diagnosis.

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3. Bjørklund G, Doşa MD, Maes M, Dadar M, Frye RE, Peana M, Chirumbolo S. The impact of glutathione metabolism in autism spectrum disorder. Pharmacol Res ;2021 (Jan 22):105437.

This paper reviews the potential role of glutathione (GSH) in autism spectrum disorder (ASD). GSH plays a key role in the detoxification of xenobiotics and maintenance of balance in intracellular redox pathways. Recent data showed that imbalances in the GSH redox system are an important factor in the pathophysiology of ASD. Furthermore, ASD is accompanied by decreased concentrations of reduced GSH in part caused by oxidation of GSH into glutathione disulfide (GSSG). GSSG can react with protein sulfhydryl (SH) groups, thereby causing proteotoxic stress and other abnormalities in SH-containing enzymes in the brain and blood. Moreover, alterations in the GSH metabolism via its effects on redox-independent mechanisms are other processes associated with the pathophysiology of ASD. GSH-related regulation of glutamate receptors such as the N-methyl-D-aspartate receptor can contribute to glutamate excitotoxicity. Synergistic and antagonistic interactions between glutamate and GSH can result in neuronal dysfunction. These interactions can involve transcription factors of the immune pathway, such as activator protein 1 and nuclear factor (NF)-κB, thereby interacting with neuroinflammatory mechanisms, ultimately leading to neuronal damage. Neuronal apoptosis and mitochondrial dysfunction are recently outlined as significant factors linking GSH impairments with the pathophysiology of ASD. Moreover, GSH regulates the methylation of DNA and modulates epigenetics. Existing data support a protective role of the GSH system in ASD development. Future research should focus on the effects of GSH redox signaling in ASD and should explore new therapeutic approaches by targeting the GSH system.

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4. Bloch C, Burghof L, Lehnhardt FG, Vogeley K, Falter-Wagner C. Alexithymia traits outweigh autism traits in the explanation of depression in adults with autism. Sci Rep ;2021 (Jan 26) ;11(1):2258.

When contemplating the alarming depression rates in adults with autism spectrum disorder (ASD), there is a need to find factors explaining heightened symptoms of depression. Beyond the impact of autism traits, markedly increased levels of alexithymia traits should be considered as a candidate for explaining why individuals with ASD report higher levels of depressive symptoms. Here, we aim to identify the extent to which autism or alexithymia traits indicate depressive symptoms in ASD and whether the pattern of association are specific to ASD. Data of a large (N = 400) representative clinical population of adults referred to autism diagnostics have been investigated and split by cases with a confirmed ASD diagnosis (N = 281) and cases with a ruled out ASD diagnosis (N = 119). Dominance analysis revealed the alexithymia factor, difficulties in identifying feelings, as the strongest predictor for depressive symptomatology in ASD, outweighing autism traits and other alexithymia factors. This pattern of prediction was not specific to ASD and was shared by clinical controls from the referral population with a ruled out ASD diagnosis. Thus, the association of alexithymia traits with depression is not unique to ASD and may constitute a general psychopathological mechanism in clinical samples.

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5. Cakar NE, Yilmazbas P. Cases of inborn errors of metabolism diagnosed in children with autism. Ideggyogy Sz ;2021 (Jan 30) ;74(1-2):67-72.

BACKGROUND AND PURPOSE : Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. METHODS : One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. RESULTS : Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. CONCLUSION : Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

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6. D’Alò GL, De Crescenzo F, Amato L, Cruciani F, Davoli M, Fulceri F, Minozzi S, Mitrova Z, Morgano GP, Nardocci F, Saulle R, Schünemann HJ, Scattoni ML. Impact of antipsychotics in children and adolescents with autism spectrum disorder : a systematic review and meta-analysis. Health Qual Life Outcomes ;2021 (Jan 25) ;19(1):33.

BACKGROUND : The net health benefit of using antipsychotics in children and adolescents with ASD is unclear. This review was performed to provide the evidence necessary to inform the Italian national guidelines for the management of ASD. METHODS : We performed a systematic review of randomized controlled trials (RCTs) comparing antipsychotics versus placebo for the treatment of ASD in children and adolescents. For efficacy, acceptability and safety we considered outcomes evaluated by the guideline panel critical and important for decision-making. Continuous outcomes were analyzed by using standardized mean difference (SMD), and dichotomous outcomes by calculating the risk ratio (RR), with their 95% confidence interval (95% CI). Data were analyzed using a random effects model. We used the Cochrane tool to assess risk of bias of included studies. Certainty in the evidence of effects was assessed according to the GRADE approach. RESULTS : We included 21 RCTs with 1,309 participants, comparing antipsychotics to placebo. Antipsychotics were found effective on "restricted and repetitive interests and behaviors" (SMD - 0.21, 95% CI - 0.35 to - 0.07, moderate certainty), "hyperactivity, inattention, oppositional, disruptive behavior" (SMD - 0.67, 95% CI - 0.92 to - 0.42, moderate certainty), "social communication, social interaction" (SMD - 0.38, 95% CI - 0.59 to - 0.16, moderate certainty), "emotional dysregulation/irritability" (SMD - 0.71, 95% CI - 0.98 to - 0.43, low certainty), "global functioning, global improvement" (SMD - 0.64, 95% CI - 0.96 to - 0.33, low certainty), "obsessions, compulsions" (SMD - 0.30, 95% CI - 0.55 to - 0.06, moderate certainty). Antipsychotics were not effective on "self-harm" (SMD - 0.14, 95% CI - 0.58 to 0.30, very low certainty), "anxiety" (SMD - 0.38, 95% CI - 0.82 to 0.07, very low certainty). Antipsychotics were more acceptable in terms of dropout due to any cause (RR 0.61, 95% CI 0.48 to 0.78, moderate certainty), but were less safe in terms of patients experiencing adverse events (RR 1.19, 95% CI 1.07 to 1.32, moderate certainty), and serious adverse events (RR 1.07, 95% CI 0.48 to 2.43, low certainty). CONCLUSIONS : Our systematic review and meta-analysis found antipsychotics for children and adolescents with ASD more efficacious than placebo in reducing stereotypies, hyperactivity, irritability and obsessions, compulsions, and in increasing social communication and global functioning. Antipsychotics were also found to be more acceptable, but less safe than placebo.

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7. Langenfeld A, Schema L, Eckerle JK. Genetic developmental disability diagnosed in adulthood : a case report. J Med Case Rep ;2021 (Jan 25) ;15(1):28.

BACKGROUND : Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues. CASE PRESENTATION : In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor. CONCLUSIONS : This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

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8. Nadeem MS, Murtaza BN, Al-Ghamdi MA, Ali A, Zamzami MA, Khan JA, Ahmad A, Mujaddad Ur R, Kazmi I. Autism - A Comprehensive Array of Prominent Signs and Symptoms. Curr Pharm Des ;2021 (Jan 19)

BACKGROUND : Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition characterized by multiple psychological and physiological impairments in young children. According to the recent reports 1 out of every 58 newly born children is suffering from autism. The aetiology of disorder is complex and poorly understood, hindering the adaptation of targeted and effective therapies. There are no well-established diagnostic biomarkers for autism, hence the analysis of symptoms by the pediatricians play a critical role in the early intervention. METHODS : In the present report we have emphasized on 24 behavioral, psychological and clinical symptoms of autism. RESULTS : Impaired social interaction, restrictive and narrow interests, anxiety, depression ; aggressive, repetitive, rigid and self-injurious behavior, lack of consistency, short attention span, fear, shyness and phobias, hypersensitivity and rapid mood alterations, high level of food and toy selectivity ; inability to establish friendships or follow the instructions ; fascination by round spinning objects and eating non-food materials are common psychological characteristics of autism. Speech or hearing impairments, poor cognitive function, gastrointestinal problems, weak immunity, disturbed sleep and circadian rhythms, weak motor neuromuscular interaction, lower level of serotonin and neurotransmitters, headache and body pain include common physiological symptoms. CONCLUSION : A variable qualitative and quantitative impact of these wide range of symptoms is perceived in each autistic individual making him/her distinct, incomparable and exceptional. Selection and application of highly personalized medical and psychological therapies are therefore recommended for the management and treatment of autism.

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9. Wiggins LD, Nadler C, Rosenberg S, Moody E, Reyes N, Reynolds A, Alexander A, Daniels J, Thomas K, Giarelli E, Levy SE. Many Young Children with Autism Who Use Psychotropic Medication Do Not Receive Behavior Therapy : A Multisite Case-Control Study. J Pediatr ;2021 (Jan 22)

OBJECTIVES : to explore how many pre-school aged children with autism spectrum disorder (ASD) used psychotropic medication, (child and geographic factors associated with psychotropic medication use, and how many children who used psychotropic medication did or did not ever receive behavior therapy. STUDY DESIGN : Children 2-5 years of age were enrolled from 2012-2016 in a multisite case-control study designed to investigate the development and risk factors of ASD. Children with a positive ASD screen or ASD diagnosis upon enrollment were asked to complete a comprehensive evaluation to determine ASD status and developmental level. Caregivers completed a services and treatments questionnaire (STQ) and multiple self-administered questionnaires to determine child use of psychotropic medication, ever receipt of behavior therapy, and presence of co-occurring symptoms. RESULTS : 763 children were classified as ASD and had data collected on the STQ. Of those, 62 (8.1%) used psychotropic medication to treat behavioral symptoms and 28 (3.7%) were three years of age or younger when medication was first started. Attention problems (aOR=7.65 ; 95% CI=3.41,16.1 ; P<.001) and study site (aOR=2.62 ; 95% CI=1.04, 6.56 ; P = .04) were significantly associated with psychotropic medication use after controlling for maternal race/ethnicity. More than half (59.7%) of those who used psychotropic medication did not ever receive behavior therapy. CONCLUSIONS : Many preschool-aged children with ASD who use psychotropic medication do not receive behavior therapy. Pediatricians are an important resource for children and families and can help facilitate behavioral treatment for children with ASD and other disorders.

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