Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression

  title={Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression},
  author={John N. Constantino and Tony Charman},
  journal={The Lancet Neurology},

Figures from this paper

An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options

This review provides a broad overview of the history, prevalence, etiology, clinical presentation, and heterogeneity of ASD and explores the potential of a new wave of research examining objective biomarkers to facilitate the evaluation of sub-typing, diagnosis, and treatment response in ASD.

The autism “epidemic”

The evolving dimensions of the autism/ASD diagnosis are examined, certain bioethics principles related to its evaluation and management are outlined, relevant laws and disability rights are reviewed, and the societal obligation to recognize neurodevelopmental variation and human neurodiversity is emphasized.

Biomarkers in Autism Spectrum Disorder: Challenges, Advances, and the Need for Biomarkers of Relevance to Public Health.

  • A. Klin
  • Medicine, Psychology
  • 2018
The goal is to develop objective procedures and measures for population-based screening and diagnosis to increase access to early treatment and intervention in autism spectrum disorder.

Autism spectrum disorder

This Primer by Lord and colleagues reviews the epidemiology, mechanisms, clinical detection and treatment of autism and identifies the long-term needs of people with autism.

Clinical impact of early diagnosis of autism on the prognosis and parent–child relationships

A growing body of evidence supports the value of early diagnosis and treatment with evidence-based interventions, which can significantly improve the quality of life of individuals with ASD as well as of their carers and families.

Moving beyond a categorical diagnosis of autism

A radical change in our autism research strategy is needed: Back to prototypes

  • L. Mottron
  • Psychology
    Autism research : official journal of the International Society for Autism Research
  • 2021
It is argued that an emphasis on the reliability rather than specificity of diagnostic criteria and the misuse of diagnostic instruments leads to confound autism with the entire range of neurodevelopmental conditions and personality variants and is proposed to change research strategy by focusing on the study of the latter, fewer in number, but more representative of the "prototype" of autism.

Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition consisting of deficits in social communication and presentation of restricted and repetitive behaviors and interests. An increasingly

Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

Emerging evidence shows that signal transduction molecular events are involved in pathological processes such as transcription, translation, synaptic transmission, epigenetics and immunoinflammatory responses, which has important implications for the discovery of precise molecular targets for autism.



Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

The guidelines in this paper have been developed to assist the clinician in the consideration of factors and are updates the original publication from 2008.

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

The guidelines in this article have been developed to assist the clinician in the consideration of a host of different factors, including an accurate diagnosis of autism before proceeding with any investigation and an individualized evaluation scheme based on the unique history and clinical features of a given patient.

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

How some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder is discussed, and it is argued that only through such advances will the authors begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments.

The Quantitative Nature of Autistic Social Impairment

A recent body of research in genetics and epidemiology is presented to examine a dimensional reconceptualization of autistic social impairment—as manifested in clinical autistic syndromes, the broader autism phenotype, and normal variation in the general population.

A multisite study of the clinical diagnosis of different autism spectrum disorders.

Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments, and results support the move from existing subgroupings of autism Spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors.

Measurement Issues: Screening and diagnostic instruments for autism spectrum disorders - lessons from research and practice.

Instruments help clinicians to collect detailed, structured information and increase accuracy and reliability of referral for in-depth assessment and recommendations for support, but further research is needed to refine their effective use in clinical settings.

Practitioner review: Diagnosis of autism spectrum disorder in 2- and 3-year-old children.

  • T. CharmanG. Baird
  • Medicine, Psychology
    Journal of child psychology and psychiatry, and allied disciplines
  • 2002
Earlier diagnosis and rising recognition of ASD have significant implications for primary healthcare and specialist diagnostic and therapeutic services.

Explaining differences in age at autism spectrum disorder diagnosis: A critical review

  • A. DanielsD. Mandell
  • Medicine, Psychology
    Autism : the international journal of research and practice
  • 2014
Early detection efforts should include enhanced parental and provider education on the early recognition of developmental problems, interventions aimed at streamlining the process from first concern to eventual diagnosis, and strategies that target underserved populations.