Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology

Journal of Child Psychology and Psychiatry, Journal Year: 2017, Volume and Issue: 58(10), P. 1068 - 1080

Published: March 30, 2017

Background Lack of agreement about criteria and terminology for children's language problems affects access to services as well hindering research practice. We report the second phase a study using an online Delphi method address these issues. In first phase, we focused on disorder. Here consider terminology. Methods The is iterative process in which initial set statements rated by panel experts, who then have opportunity view anonymised ratings from other members. On this basis they can either revise their views or make case position. are revised based feedback, again commented panel. study, feedback round was used prepare final narrative form. included 57 individuals representing range professions nationalities. Results achieved at least 78% 19 21 within two rounds ratings. These were collapsed into 12 consensus reported here. term ‘Language Disorder’ recommended refer profile difficulties that causes functional impairment everyday life associated with poor prognosis. term, ‘Developmental Language ( DLD ) endorsed use when disorder not known biomedical aetiology. It also agreed (a) presence risk factors (neurobiological environmental) does preclude diagnosis , (b) co‐occur neurodevelopmental disorders (e.g. ADHD (c) require mismatch between verbal nonverbal ability. Conclusions This exercise highlights reasons disagreements proposes standard definitions nomenclature.

Language: Английский

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Identification, Evaluation, and Management of Children With Autism Spectrum Disorder

PEDIATRICS, Journal Year: 2019, Volume and Issue: 145(1)

Published: Dec. 16, 2019

Autism spectrum disorder (ASD) is a common neurodevelopmental with reported prevalence in the United States of 1 59 children (approximately 1.7%). Core deficits are identified 2 domains: social communication/interaction and restrictive, repetitive patterns behavior. Children youth ASD have service needs behavioral, educational, health, leisure, family support, other areas. Standardized screening for at 18 24 months age ongoing developmental surveillance continues to be recommended primary care (although it may performed settings), because common, can diagnosed as young age, has evidenced-based interventions that improve function. More accurate culturally sensitive approaches needed. Primary providers should familiar diagnostic criteria ASD, appropriate etiologic evaluation, co-occurring medical behavioral conditions (such disorders sleep feeding, gastrointestinal tract symptoms, obesity, seizures, attention-deficit/hyperactivity disorder, anxiety, wandering) affect child's function quality life. There an increasing evidence base support address specific skills symptoms. Shared decision making calls collaboration families evaluation choice interventions. This single clinical report updates 2007 American Academy Pediatrics reports on treatment one publication online table contents section view available through Gateway help reader identify topic areas within report.

Language: Английский

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Sensory perception in autism

Nature reviews. Neuroscience, Journal Year: 2017, Volume and Issue: 18(11), P. 671 - 684

Published: Sept. 27, 2017

Language: Английский

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Conscious Processing and the Global Neuronal Workspace Hypothesis

Neuron, Journal Year: 2020, Volume and Issue: 105(5), P. 776 - 798

Published: March 1, 2020

Language: Английский

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The Changing Epidemiology of Autism Spectrum Disorders

Annual Review of Public Health, Journal Year: 2017, Volume and Issue: 38(1), P. 81 - 102

Published: Jan. 9, 2017

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on epidemiology has made significant advances in the past decade. Current prevalence estimated be at least 1.5% developed countries, recent increases primarily among those without comorbid intellectual disability. studies have identified number of rare de novo mutations gained footing areas polygenic risk, epigenetics, gene-by-environment interaction. Epidemiologic investigations focused nongenetic established advanced parental age preterm birth as risk factors, indicated that prenatal exposure air pollution short interpregnancy interval are potential suggested need for further exploration certain nutrients, metabolic conditions, endocrine-disrupting chemicals. We discuss future challenges goals well public health implications.

Language: Английский

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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Nature Neuroscience, Journal Year: 2017, Volume and Issue: 20(4), P. 602 - 611

Published: March 6, 2017

Language: Английский

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An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options

Neuroscience Bulletin, Journal Year: 2017, Volume and Issue: 33(2), P. 183 - 193

Published: Feb. 17, 2017

Since the documented observations of Kanner in 1943, there has been great debate about diagnoses, sub-types, and diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, continual refinement from DSM-III with 'Infantile Autism' current DSM-V diagnosis. The widely accepted a complex, pervasive, heterogeneous condition multiple etiologies, developmental trajectories. Diagnosis remains based on observation atypical behaviors, criteria persistent deficits social communication restricted repetitive patterns behavior. This review provides broad overview prevalence, etiology, clinical presentation, heterogeneity ASD. Factors contributing heterogeneity, including genetic variability, comorbidity, gender are reviewed. We then explore evidence-based pharmacological behavioral treatments for ASD highlight complexities conducting trials evaluate therapeutic efficacy populations. Finally, we discuss potential new wave research examining objective biomarkers facilitate evaluation sub-typing, diagnosis, treatment response

Language: Английский

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SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse

Neuron, Journal Year: 2019, Volume and Issue: 103(2), P. 217 - 234.e4

Published: June 3, 2019

Language: Английский

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Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders

Molecular Psychiatry, Journal Year: 2019, Volume and Issue: 24(9), P. 1248 - 1257

Published: May 14, 2019

Language: Английский

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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Molecular Autism, Journal Year: 2017, Volume and Issue: 8(1)

Published: May 22, 2017

BackgroundOver the past decade genome-wide association studies (GWAS) have been applied to aid in understanding of biology traits. The success this approach is governed by underlying effect sizes carried true risk variants and corresponding statistical power observe such effects given study design sample size under investigation. Previous ASD GWAS identified significant (GWS) loci; however, these were only low identify GWS loci at lower (odds ratio (OR) <1.15).MethodsWe conducted a large-scale coordinated international collaboration combine independent genotyping data improve robust discovery loci. This uses from (7387 cases 8567 controls) followed meta-analysis summary statistics two replication sets (7783 11359 controls; 1369 137308 controls).ResultsWe locus 10q24.32 that overlaps several genes including PITX3, which encodes transcription factor as playing role neuronal differentiation CUEDC2 previously reported be associated with social skills an population cohort. We also overlap regions implicated schizophrenia was further supported strong genetic correlation between disorders (Rg = 0.23; P 9 × 10−6). combined Psychiatric Genomics Consortium (PGC) recent PGC additional may important common neurodevelopmental phenotype 12 novel These include FOXP1 3p13, ATP2B2 3p25.3, ‘neurodevelopmental hub’ on chromosome 8p11.23.ConclusionsThis step ongoing endeavour underpin variant signal ASD. In addition loci, we neurodevelopmental-related EXT1, ASTN2, MACROD2, HDAC4.

Language: Английский

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