Pubmed du 15/11/19

vendredi 15 novembre 2019

1. Alfageh BH, Man KKC, Besag FMC, Alhawassi TM, Wong ICK, Brauer R. Psychotropic Medication Prescribing for Neuropsychiatric Comorbidities in Individuals Diagnosed with Autism Spectrum Disorder (ASD) in the UK. J Autism Dev Disord ;2019 (Nov 13)

Autism spectrum disorder (ASD) is a lifelong disorder. In the UK, risperidone is the only psychotropic medication approved for the management of the behavioural symptoms that may accompany autism. This is a population-based study aimed to provide an evaluation of the changing trend in the incidence and prevalence of ASD and to analyse the pattern of psychotropic medication prescribing in the UK. 20,194 patients with ASD were identified. The prevalence increased 3.3-fold from 0.109 per 100 persons in 2009 to 0.355 per 100 persons in 2016. Approximately one-third of the identified cohort was prescribed at least one psychotropic medication. Although the medications approved to manage the symptoms of ASD are limited, the prescribing of such medications is increasing.

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2. Behmanesh H, Moghaddam HS, Mohammadi MR, Akhondzadeh S. Risperidone Combination Therapy With Propentofylline for Treatment of Irritability in Autism Spectrum Disorders : A Randomized, Double-Blind, Placebo-Controlled Clinical Trial. Clin Neuropharmacol ;2019 (Nov/Dec) ;42(6):189-196.

OBJECTIVES : Propentofylline is a xanthine phosphodiesterase inhibitor and adenosine reuptake blocker with neuroprotective effects linked to anti-inflammatory and antiexcitatory properties. This is a double-blind, placebo-controlled trial investigating the potential beneficial effects of propentofylline, as an adjunctive treatment with risperidone, on the severity and behavioral abnormalities of autism spectrum disorder (ASD). METHODS : A total of 48 children with ASD were randomly allocated into 2 groups of risperidone (initiating at 0.5 mg/d) plus propentofylline (initiating at 300 mg/d) and risperidone plus placebo. The Aberrant Behavior Checklist-Community (ABC-C) and Childhood Autism Rating Scale (CARS) were used for the evaluation of ASD severity and behavioral disruptions at baseline, week 4, and week 10. Primary outcome measure of the study was ABC-C irritability subscale score, whereas CARS score along with other 4 subscales of ABC-C (lethargy/social withdrawal, stereotypic behavior, hyperactivity/noncompliance, and inappropriate speech subscales) were considered as secondary outcome measures. RESULTS : Results from the general linear model repeated measures analysis demonstrated significant time-treatment interaction on irritability subscale (F1.55 = 3.45 ; P = 0.048) and CARS (F1.41 = 4.08 ; P = 0.034) scores. Compared with the placebo group, children receiving propentofylline showed greater improvements in the CARS score (P = 0.037) from baseline to the study endpoint. Our results found no significant time-treatment effect on other subscales of ABC-C. Two trial groups were comparable based on the frequency of adverse effects. CONCLUSIONS : Our findings demonstrated that adjunctive treatment with propentofylline is effective in alleviating disease severity and improving irritability in ASD patients. However, larger studies with longer durations are required to confirm these results.

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3. Gaetz W, Rhodes E, Bloy L, Blaskey L, Jackel CR, Brodkin ES, Waldman A, Embick D, Hall S, Roberts TP. Evaluating motor cortical oscillations and age-related change in autism spectrum disorder. Neuroimage ;2019 (Nov 11):116349.

Autism spectrum disorder (ASD) is primarily characterized by impairments in social communication and the appearance of repetitive behaviors with restricted interests. Increasingly, evidence also points to a general deficit of motor tone and coordination in children and adults with ASD ; yet the neural basis of motor functional impairment in ASD remains poorly characterized. In this study we used magnetoencephalography (MEG) to (1) assess potential group differences between typically developing (TD) and ASD participants in motor cortical oscillatory activity observed on a simple button-press task and (2) to do so over a sufficiently broad age-range so as to capture age-dependent changes associated with development. Event-related desynchronization was evaluated in Mu (8-13Hz) and Beta (15-30Hz) frequency bands (Mu-ERD, Beta-ERD). In addition, post-movement Beta rebound (PMBR), and movement-related gamma (60-90Hz) synchrony (MRGS) were also assessed in a cohort of 123 participants (63 typically developing (TD) and 59 with ASD) ranging in age from 8 to 24.9 years. We observed significant age-dependent linear trends in Beta-ERD and MRGS power with age for both TD and ASD groups ; which did not differ significantly between groups. However, for PMBR, in addition to a significant effect of age, we also observed a significant reduction in PMBR power in the ASD group (p<0.05). Post-hoc tests showed that this omnibus group difference was driven by the older cohort of children >13.2 years (p<0.001) and this group difference was not observed when assessing PMBR activity for the younger PMBR groups (ages 8-13.2 years ; p=0.48). Moreover, for the older ASD cohort, hierarchical regression showed a significant relationship between PMBR activity and clinical scores of ASD severity (SRS-T scores), after regressing out the effect of age (p<0.05). Our results show substantial age-dependent changes in motor cortical oscillations (Beta-ERD and MRGS) occur for both TD and ASD children and diverge only for PMBR, and most significantly for older adolescents and adults with ASD. While the functional significance of PMBR and reduced PMBR signaling remains to be fully elucidated, these results underscore the importance of considering age as a factor when assessing motor cortical oscillations and group differences in children with ASD.

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4. Ichiyanagi S, Takeshita I, Kandil AI, Miyazu M, Kojima T. Pulmonary Hypertensive Crisis During General Anesthesia in a 3-Year-Old Autistic Boy With Undiagnosed Scurvy, Undergoing Cardiac Catheterization : A Case Report. A A Pract ;2019 (Nov 15) ;13(10):379-381.

Pulmonary hypertension in children is commonly caused by underlying cardiac and pulmonary disease. Within the past 10 years, scurvy has been identified as a cause for pulmonary hypertension. We describe the case of a 3-year-old autistic boy with undiagnosed scurvy who was scheduled for cardiac catheterization. Immediately after induction, the patient became hemodynamically unstable, which worsened with administration of nitrous oxide. Cardiac catheterization revealed pulmonary hypertension, which dramatically improved with administration of vitamin C. Anesthesiologists should be aware that scurvy is more common than previously thought, even in developed countries and can cause unexpected circulatory collapse from pulmonary hypertensive crisis.

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5. Lovell B, Wetherell MA. Exploring the Moderating Role of Benefit Finding on the Relationship Between Child Problematic Behaviours and Psychological Distress in Caregivers of Children with ASD. J Autism Dev Disord ;2019 (Nov 14)

Caregivers of children with ASD often find benefits associated with their caregiving role, and benefit finding predicts lower distress. Child problematic behaviours (CPB), which positively predict caregivers’ distress, are perceived to be being less problematic, or more manageable, by caregivers who find benefits. Benefit finding therefore might mitigate the negative psychological impact of CPB. A sample of n = 158 caregivers of children with ASD completed an online survey assessing benefit finding, CPB, and psychological distress. CPB positively, and benefit finding negatively, predicted caregivers’ distress. Moderation effects however were not observed. Findings implicate increased CPB and lower benefit finding as risk factors for caregivers’ psychological distress. Findings provide clearly definable targets for intervention.

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6. Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Genevieve D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Eichler EE, Vincent JB, Bamshad MJ. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med ;2019 (Nov 14)

PURPOSE : Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS : We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships. RESULTS : Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. CONCLUSION : De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.

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7. Mukherjee SB, Aneja S, Sharma S, Sharma M. Diagnostic Accuracy of Indian Scale for Assessment of Autism in Indian Children Aged 2-5 Years. Indian Pediatr ;2019 (Oct 15) ;56(10):831-836.

OBJECTIVE : To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged between 2-5 years. Design : Setting :. STUDY DESIGN : Study of diagnostic accuracy. PARTICIPANTS : A consecutive sample of 500 children with suspected Autism (delay or regression of developmental milestones, delay or regression in speech, age-inappropriate understanding, behaviour, play and/or social interaction) was recruited. SETTING : Tertiary level hospital, (November 2015 - November 2017). PROCEDURE : Each child underwent an expert comprehensive assessment of Autism (reference tool) that included history, observation, examination, diagnostic criteria for Autism Spectrum Disorder (ASD) of the Diagnostic and Statistical Manual of Mental Disorders’, 5th edition, Childhood Autism Rating Scale-2 (CARS2), developmental status and adaptive function. This was followed by the administration of ISAA (test tool) in Hindi language. Parameters of diagnostic accuracy and Receiver Operating Characteristic curves were computed. MAIN OUTCOME MEASURES : ASD based on (i) expert assessment, (ii) CARS-2, and (iii) ISAA. RESULTS : In children aged 2-3 years, sensitivity of ISAA was 100% (95% CI 98.2% -100%), specificity 28.9% (95% CI 17.7% to 43.4%), positive likelihood ratio 1.4 and negative likelihood ratio 0. In 3-5 year olds, sensitivity was 99.6% (95% CI 97.6% to 99.6%), specificity 33.3% (95% CI 15.1% to 58.3%), positive likelihood ration 1.5 and negative likelihood ratio 0.01. The degrees of autism based on the existing cut off values were inaccurate. CONCLUSIONS : ISAA has sub-optimal performance in diagnosing and assessing severity in 2-5 year old children.

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8. Pedapati EV, Mooney LN, Wu SW, Erickson CA, Sweeney JA, Shaffer RC, Horn PS, Wink LK, Gilbert DL. Motor cortex facilitation : a marker of attention deficit hyperactivity disorder co-occurrence in autism spectrum disorder. Transl Psychiatry ;2019 (Nov 13) ;9(1):298.

The neural correlates distinguishing youth with Autism Spectrum Disorder (ASD-) and ASD with co-occurring Attention Deficit Hyperactivity Disorder (ASD+) are poorly understood despite significant phenotypic and prognostic differences. Paired-pulse transcranial magnetic stimulation (TMS) measures, including intracortical facilitation (ICF), short interval cortical inhibition (SICI), and cortical silent period (CSP) were measured in an age matched cohort of youth with ASD- (n = 20), ASD + (n = 29), and controls (TDC) (n = 24). ASD- and ASD+ groups did not differ by IQ or social functioning ; however, ASD+ had significantly higher inattention and hyperactivity ratings. ICF (higher ratio indicates greater facilitation) in ASD+ (Mean 1.0, SD 0.19) was less than ASD- (Mean 1.3, SD 0.36) or TDC (Mean 1.2, SD 0.24) (F2,68 = 6.5, p = 0.003 ; post-hoc tests, ASD+ vs either TDC or ASD-, p

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9. Singh NN, Hwang YS. Mindfulness-based programs and practices for people with intellectual and developmental disability. Curr Opin Psychiatry ;2019 (Nov 12)

PURPOSE OF REVIEW : People with intellectual and developmental disability (IDD) commonly exhibit behaviors that present challenges to their parents, caregivers, and teachers. Mindfulness-based practices and programs have emerged as a viable alternative to current interventions for such behaviors and the stress faced by their caregivers. This review addresses publications between 2018 and 2019 that examined the effectiveness of mindfulness-based practices and programs for people living with IDD. RECENT FINDINGS : Individuals with IDD can learn mindfulness practices to self-manage their aggressive and destructive behaviors. Individual practices and group-based programs continue to show that mindfulness approaches are effective for this population. Randomized controlled trials indicate that comprehensive mindfulness-based programs (e.g., mindfulness-based stress reduction, MYmind, and mindfulness-based positive behavior support) are effective for enhancing the quality of life of people living with IDD. SUMMARY : Research supports the use of informal mindfulness practices for challenging behaviors of people with IDD. Formal mindfulness-based programs continue to be evaluated for their effectiveness across different populations, cultures, levels of IDD, components of the program, and length of training. The research literature on mindfulness is still in the early stages of development and much work remains.

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10. Tartaglione AM, Schiavi S, Calamandrei G, Trezza V. Prenatal valproate in rodents as a tool to understand the neural underpinnings of social dysfunctions in autism spectrum disorder. Neuropharmacology ;2019 (Nov 15) ;159:107477.

Impairments in social interaction and verbal and non verbal communication are among the main features of Autism Spectrum Disorder (ASD). The causes of ASD are still unknown but the research efforts of the last decade have identified a number of factors (rare gene mutations, gene variations and adverse environmental events) that, interacting in complex ways, affect early brain development. The clinical evidence that prenatal exposure to the antiepileptic drug valproate (VPA) is associated with increased risk of neurodevelopmental delay, cognitive deficits and autism in children, has drawn the attention of scientists on VPA as a tool to unravel the environment contribution to ASD risk in children. In agreement with the clinical evidence, rodents prenatally exposed to VPA display behavioral anomalies resembling ASD symptoms. The mechanisms by which administration of VPA in pregnancy increases the risk of autism are still far to be clear as are still undetermined the specific targets of VPA in the developing brain both in humans and rodents. However, the robustness of the behavioral alterations, mainly in the social domain, and the neural/molecular changes revealed so far support the VPA model as a reliable instrument to investigate the neural underpinnings of social impairment. Here we provide an update of preclinical studies on prenatal exposure to VPA in rodents with a focus on the social and communication deficits induced by VPA, discussing potential pitfalls and future directions in this research field and corroborating the potential of the VPA model to identify new pharmacological targets for ASD. This article is part of the Special Issue entitled ’The neuropharmacology of social behavior : from bench to bedside’.

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11. Yoon TH, Mun YK, Lee JS, Min SK, Jee YS. Analysis for reliability and validity of gross motor function and health fitness tests for children with developmental disabilities. J Exerc Rehabil ;2019 (Oct) ;15(5):667-675.

The aim of this study was to determine the reliability and validity of gross motor function and health fitness assessment tests for children with developmental disabilities. All 35 participants who took part in this study on a voluntary basis were male children (age, 10.31+/-1.25 years). All selected tests for gross motor function and health fitness assessments were used in previous studies to measure basic physical health and motor abilities, which include strength (grip strength test), muscular endurance (modified sit-ups test), flexibility (sit and reach test), and cardiopulmonary endurance (15-m shuttle run test). Reliability was analyzed using intraclass correlation coefficients in the pretest-posttest and Bland-Altman graphs study. Pearson correlation was used to analyze convergent validity and analysis of variance was used to analyze variations among age groups. Lastly, a correlation analysis was conducted between the tests in gross motor function and health fitness assessments. This study indicates that gross motor function and health fitness assessments have obtained adequate reliability parameters and are able to determine differences in children from 9 to 12 years of age. The tests performed were simple to use, safe, and suitable for children with developmental disabilities.

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