Pubmed du 30/05/20

samedi 30 mai 2020

1. Avlund SH, Thomsen PH, Schendel D, Jørgensen M, Clausen L. Time Trends in Diagnostics and Clinical Features of Young Children Referred on Suspicion of Autism : A Population-Based Clinical Cohort Study, 2000-2010. J Autism Dev Disord ;2020 (May 30)

The present study aimed to explore clinical trends in the period 2000-2010, along with discriminating clinical factors for autism spectrum disorder (ASD), in young children suspected of ASD. The following trends were observed : (1) a rise in referrals including an increase in referrals among language-abled children, (2) an increase in children assigned an ASD diagnosis after assessment, and (3) a decrease in Autism Diagnostic Observation Schedule total score. The distribution of ASD subtypes and IQ level did not change. Results suggest that a higher proportion of children with less severe autism symptoms were referred and diagnosed. Further, restricted and repetitive behaviors seemed to be a key discriminating factor when distinguishing between ASD and no-ASD children with a discordant symptom profile.

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2. Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED. Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study. Ann Neurol ;2020 (May 30)

OBJECTIVE : Rett Syndrome, CDKL5-Deficiency Disorder, FOXG1 Disorder, and MECP2 Duplication Disorder are Developmental Encephalopathies with shared and distinct features. Though historically linked, no direct comparison has been performed. The first head-to-head comparison of clinical features in these conditions is presented. METHODS : Comprehensive clinical information was collected from 793 individuals enrolled in the Rett Syndrome and Related Disorders Natural History Study. Clinical features including clinical severity, regression, and seizures were cross-sectionally compared between diagnoses to test the hypothesis that these are 4 distinct disorders. RESULTS : Distinct patterns of clinical severity, seizure onset age, and regression were present. Individuals with CDKL5-Deficency Disorder were the most severely affected and had the youngest age of seizure onset (2 months) whereas children with MECP2-duplication syndrome had the oldest median age of seizure onset (64 months) and lowest severity scores. Rett syndrome and FOGX1 were intermediate in both features. Smaller head circumference correlates with increased severity in all disorders and earlier age of seizure onset in MECP2-duplication syndrome. Developmental regression occurred in all Rett syndrome participants (median 18 months) but only 23-34% of the other disorders. Seizure incidence prior to the baseline visit was highest for CDKL5-Deficency Disorder (96.2%) and lowest for Rett syndrome (47.5%). Other clinical features including seizure types and frequency differed amongst groups. INTERPRETATION : While these Developmental Encephalopathies share many clinical features, clear differences in severity, regression, and seizures warrant considering them as unique disorders. These results will aid in the development of disease specific severity scales, precise therapeutics, and future clinical trials. This article is protected by copyright. All rights reserved.

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3. Hatila S, Solanki G. Co-Occurrence of Autistic Spectrum Disorder and Childhood-Onset Schizophrenia. Prim Care Companion CNS Disord ;2020 (May 28) ;22(3)

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4. Kayarian FB, Jannati A, Rotenberg A, Santarnecchi E. Targeting Gamma-Related Pathophysiology in Autism Spectrum Disorder Using Transcranial Electrical Stimulation : Opportunities and Challenges. Autism Res ;2020 (May 28)

A range of scalp electroencephalogram (EEG) abnormalities correlates with the core symptoms of autism spectrum disorder (ASD). Among these are alterations of brain oscillations in the gamma-frequency EEG band in adults and children with ASD, whose origin has been linked to dysfunctions of inhibitory interneuron signaling. While therapeutic interventions aimed to modulate gamma oscillations are being tested for neuropsychiatric disorders such as schizophrenia, Alzheimer’s disease, and frontotemporal dementia, the prospects for therapeutic gamma modulation in ASD have not been extensively studied. Accordingly, we discuss gamma-related alterations in the setting of ASD pathophysiology, as well as potential interventions that can enhance gamma oscillations in patients with ASD. Ultimately, we argue that transcranial electrical stimulation modalities capable of entraining gamma oscillations, and thereby potentially modulating inhibitory interneuron circuitry, are promising methods to study and mitigate gamma alterations in ASD. LAY SUMMARY : Brain functions are mediated by various oscillatory waves of neuronal activity, ranging in amplitude and frequency. In certain neuropsychiatric disorders, such as schizophrenia and Alzheimer’s disease, reduced high-frequency oscillations in the "gamma" band have been observed, and therapeutic interventions to enhance such activity are being explored. Here, we review and comment on evidence of reduced gamma activity in ASD, arguing that modalities used in other disorders may benefit individuals with ASD as well.

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5. Li Y, Huang D. Questions about the data : Negative correlation between Treg cells and autism spectrum disorder severity. J Neuroimmunol ;2020 (May 21) ;345:577265.

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6. Lim J, Greenspoon D, Hunt A, McAdam L. Rehabilitation interventions in Rett syndrome : a scoping review. Dev Med Child Neurol ;2020 (May 30)

AIM : To summarize existing interventions and their outcomes in Rett syndrome (RTT) rehabilitation and identify gaps in the literature. METHOD : Five databases (Ovid MEDLINE, Ovid Embase Classic, Ovid PsycINFO, EBSCO CINAHL Plus, and ProQuest ERIC) were systematically searched up to 23rd July 2018 for studies describing rehabilitation interventions. Data on study participants, design, and outcomes were extracted. RESULTS : Sixty-two articles were included in the final review. Evidence consistently demonstrated that females with RTT can improve their gross motor, fine motor, and communicative skills with rehabilitation. All 11 interventions targeting gross motor function, namely ambulation, achieved functional improvements. Twenty of 24 articles describing fine motor rehabilitation studies succeeded in decreasing stereotypies, improving functional hand use, and/or reducing self-injurious behaviors. Twenty-one of 22 studies describing communication interventions succeeded in training choice-making, communicative language, or socialization behavior. Other key findings include the positive interplay between physical and communicative rehabilitation outcomes, and the ability of females with RTT to improve their cognitive abilities during intervention. INTERPRETATION : Rehabilitation can impact the daily lives of females with RTT and their caregivers in clinically meaningful ways.

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7. Loyacono N, Sanz ML, Gerbi MD, Martínez LM, Ferreira ML, Iermoli R. Gastrointestinal, nutritional, endocrine, and microbiota conditions in autism spectrum disorder. Arch Argent Pediatr ;2020 (Jun) ;118(3):e271-e277.

Gastrointestinal, nutritional, metabolic, endocrine, and microbiota medical problems in pediatric patients diagnosed with autism spectrum disorder (ASD) are some of the coexisting medical conditions in ASD diagnosis. Their prevalence reaches more than 91 % for gastrointestinal problems, up to 89 % for nutritional and metabolic disorders, more than 50 % for thyroid dysfunction, and up to 100 % for microbiota-related conditions. There is an urgency for medical practice to be updated and to include the assessment, testing, diagnosis, and treatment of these coexisting medical conditions in ASD diagnosis in the pediatric, adolescent, and adult population. A strict management of such conditions results in positive changes in the quality of life and symptoms based on which ASD is diagnosed many times. It should be based on high-quality scientific evidence with an adequate medical care and control.

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8. Mano-Sousa BJ, Pedrosa AM, Alves BC, Galduróz JCF, Belo VS, Chaves VE, Duarte-Almeida JM. Effects of risperidone in autistic children and young adults : A Systematic Review and Meta-Analysis. Curr Neuropharmacol ;2020 (May 29)

There are several studies investigating the effects of risperidone in autism, but many of these studies are contradictory or inconclusive. This systematic review and meta-analysis investigated the effects of risperidone on five domains of Aberrant Behaviour Checklist (ABC) scale on Autism Spectrum Disorder (ASD), as well as weight gain and waist circumference. The protocol for the present systematic review and meta-analysis was registered on International Prospective Register of Systematic Reviews (PROSPERO). For this study, we analysed articles (2,459), selecting them according to the PICOS strategy (Population, Intervention, Comparison, Outcome, Study design). Although risperidone is effective for the treatment of lethargy and inadequate speech, concerns about the association between weight gain, waist circumference and risperidone require a need to evaluation of the risk-benefit ratio in its use. There was a significant association between weight gain, waist circumference and risperidone. In Conclusion, it was possible to suggest the efficacy of risperidone for the treatment of lethargy and inadequate speech. Finally, we emphasize that the risk-benefit in its use should be evaluated. Protocol number CRD42019122316.

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9. Merritt JK, Collins BE, Erickson KR, Dong H, Neul JL. Pharmacological readthrough of R294X Mecp2 in a novel mouse model of Rett Syndrome. Hum Mol Genet ;2020 (May 29)

Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). More than 35% of affected individuals have nonsense mutations in MECP2. For these individuals, nonsense suppression has been suggested as a possible therapeutic approach. To assess the viability of this strategy, we created and characterized a mouse model with the common p.R294X mutation introduced into the endogenous Mecp2 locus (Mecp2R294X). Mecp2R294X mice exhibit phenotypic abnormalities similar to those seen in complete Null mouse models, however, these occur at a later time point consistent with the reduced phenotypic severity seen in affected individuals containing this specific mutation. The delayed onset of severe phenotypes is likely due to the presence of truncated MeCP2 in Mecp2R294X mice. Supplying the MECP2 transgene in Mecp2R294X mice rescued phenotypic abnormalities including early death and demonstrated that the presence of truncated MeCP2 in these mice does not interfere with wild-type MeCP2. In vitro treatment of a cell line derived from Mecp2R294X mice with the nonsense suppression agent G418 resulted in full-length MeCP2 protein production, demonstrating feasibility of this therapeutic approach. Intraperitoneal administration of G418 in Mecp2R294X mice was sufficient to elicit full-length MeCP2 protein expression in peripheral tissues. Finally, intracranial ventricular injection of G418 in Mecp2R294X mice induced expression of full-length MeCP2 protein in the mouse brain. These experiments demonstrate that translational read-through drugs are able to suppress the Mecp2 p.R294X mutation in vivo and provide a proof-of-concept for future preclinical studies of nonsense suppression agents in RTT.

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10. Pellicano E, Lawson W, Hall G, Mahony J, Lilley R, Davis C, Arnold S, Trollor J, Yudell M. Documenting the untold histories of late-diagnosed autistic adults : a qualitative study protocol using oral history methodology. BMJ Open ;2020 (May 30) ;10(5):e037968.

INTRODUCTION : Receiving a diagnosis of autism in adulthood is increasingly common for a subset of individuals who were either misdiagnosed in childhood or missed out on a diagnosis altogether. This qualitative study, coproduced with autistic people, invites late-diagnosed autistic adults to share their life histories to (1) understand better the consequences of living without a diagnosis, (2) elucidate what precipitates an autism diagnosis in mid-to-late adulthood and (3) identify the perceived impact of receiving that diagnosis. METHODS AND ANALYSIS : Oral histories have been a successful way to uncover overlooked and marginalised voices. We therefore adopt qualitative, oral history methodology in this study to understand these adults’ experiences, especially of living in an era when autism was not well known. We will recruit 24 participants who will (1) have been born before 1975, (2) have received a clinical, autism diagnosis after the age of 35, (3) be English-speaking and (4) have spent most of their childhood and adulthood living in Australia. Participants will take part in four sessions, including the main, qualitative, oral history interview, through a range of possible formats to facilitate inclusion. The interview data will be analysed using reflexive thematic analysis. ETHICS AND DISSEMINATION : The protocol has received institutional research ethics approval from Macquarie University’s Human Research Ethics Committee (Ref. : 52019556310562). This study will yield understanding of the life experiences of autistic adults, especially middle-aged and older Australians, should inform more effective diagnostic practices and provide insight into the key factors that might promote resilience and enhance quality of life in autistic people. The findings will be disseminated to academic and clinical audiences through journal articles and conference presentations and to the autistic and autism communities through accessible reports. The interviews will also be prepared for digital archiving, which will enable ongoing access for future generations and communities.

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11. Tseng A, Biagianti B, Francis SM, Conelea CA, Jacob S. Social Cognitive Interventions for Adolescents with Autism Spectrum Disorders : A Systematic Review. J Affect Disord ;2020 (May 25) ;274:199-204.

INTRODUCTION : Autism spectrum disorder (ASD), a heterogeneous neurodevelopmental disorder, impacts social experience and functioning throughout the lifespan. Although the postnatal phase of neuroplasticity has been a focus for early interventions in ASD, a second critical period in adolescence has emerged as a promising target for experience-dependent remediation. Interventions addressing the multidimensional construct of social cognition have also shown potential as a therapeutic approach. Yet, to date, evidence-based social cognitive interventions (SCIs) designed for adolescents with ASD are still lacking. In this review, we aim to survey and synthesize the extant literature on SCIs for adolescents with ASD in order to inform next steps for treatment research. METHODS : Using the PRISMA guidelines, we limited our queries to peer-reviewed, English-language journal articles describing SCI trials for adolescents with ASD using a randomized controlled design. RESULTS : Eighteen articles in total met our inclusion/exclusion criteria. We present and discuss these trials using the non-exclusive categories of group-based social skills interventions, experiential-based interventions, and computer-assisted interventions. LIMITATIONS : To ensure a focus on adolescence, we excluded trials with teen-age participants if mean subject age was not between 12-18 years. Also, given the variability across studies in outcome measures, study designs, samples, and effect sizes, findings were incommensurable. CONCLUSIONS : Several reviewed SCIs reported post-treatment improvements in varied domains but findings were inconsistent. Further investigations of existing and novel interventions are warranted ; attention to assessing and improving long-term skill transfer is essential. Technology-assisted augmentations may improve treatment efficacy and ecological validity of therapeutic gains.

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12. Zwaigenbaum L, Warren Z. Commentary : Embracing innovation is necessary to improve assessment and care for individuals with ASD : a reflection on Kanne and Bishop (2020). J Child Psychol Psychiatry ;2020 (May 30)

This commentary is offered in response to Kanne and Bishop (2020) who urge caution in adopting new devices and processes for ASD assessment and advocate that that comprehensive, expert-driven, diagnostic models for ASD remain essential to maintain quality standards. While we agree that there is a critical shortage in current care, we propose that developing suites of tools and innovative approaches for screening, risk-classification, formal diagnosis, and rich assessment of abilities and challenges may be of great value to families and necessary to improve current systems of care. As well, the evaluation of ’assessment quality’ should take into consideration both content and process, with a focus on achieving meaningful outcomes and optimizing family experience.

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