Examining the phenotypic heterogeneity of early autism spectrum disorder: subtypes and short‐term outcomes

Kim, So Hyun; Macari, Suzanne; Koller, Judah; Chawarska, Katarzyna

doi:10.1111/jcpp.12448

Cited by 133 publications

(131 citation statements)

References 30 publications

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“…There has been ASD gender subgrouping Ypma et al 2016), ASD brain feature subgrouping (Piras et al 2014;Hahamy et al 2015), ASD behavior subgrouping (Chaste et al 2015;Kim et al 2016;Veatch et al 2014), ASD developmental course subgrouping (Fountain et al 2012;Lord et al 2015), ASD behavior and brain feature subgrouping , ASD MPAs subgrouping , ASD MCAs subgrouping (Timonen-Soivio et al 2015), and ASD risk gene variant subgrouping (Hormozdiari et al 2015;Krumm et al 2014;Noh et al 2013).…”

Section: Rates Of Recovery From Asd Are Variedmentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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ASD research is at an important crossroads. The ASD diagnosis is important for assigning a child to early behavioral intervention and explaining a child's condition. But ASD research has not provided a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying ASD-defined samples would be warranted. Consequently, this paper reviews recent findings for the neurobiological validity of ASD, the construct validity of ASD diagnostic criteria, and the construct validity of ASD spectrum features. The findings reviewed indicate that the ASD diagnosis lacks biological and construct validity. The paper concludes with proposals for research going forward.Keywords DSM-5 . ASD . Autism . Diagnosis . Validity . Comorbidity . HeterogeneityThe goal of the DSM-3 nosology (American Psychiatric Association 1980) was to create reliable and standard categorical psychiatric diagnoses (Robins and Guze 1970). However, in the past 30 years, clinical, genetics, and neuroscience findings have revealed that the DSM diagnoses are not biologically valid. The National Institutes of Mental Health (NIMH) responded by proposing the Research Domain Criteria (RDoC) framework for a brain-based transdiagnostic psychiatric symptom nosology (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016). Peterson (2015) and Weinberger et al. (2015) argued that the RDoC could not replace the DSM-5 psychiatric nosology (American Psychiatric Association 2013) or the parallel International Classification of Diseases (ICD) psychiatric nosology (World Health Organization 2012). But BFor the foreseeable future, RDoC is not envisioned as a system of psychiatric classification in its own right. Instead, in the near term, RDoC and DSM-ICD are expected to coexist. Nevertheless, RDoC is intended to provide scaffolding for a large-scale research program that will ultimately yield an alternative to DSM-ICD^ (Lilienfeld and Treadway 2016, p. 445).RDoC advocates accept that DSM-5/ICD psychiatric categories remain necessary in clinical practice, but argue that researchers should shift to RDoC study designs immediately. They assert that studying psychiatric categories lacking biological validity blocks the discovery of brain bases for psychopathology and thus cannot lead to effective medical treatments for specific psychiatric symptoms (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016;Yee et al. 2015). Against this RDoC imperative for biological validity, Weinberger et al. (2015) countered that current DSM-5 psychiatric behavioral diagnoses were valid when they yielded effective medical treatment, clear prognosis, and a life course specific to a diagnosis.Autism spectrum disorder (ASD) research has been productive (Dawson 2016;de la Torre-Ubieta et al. 2016;Szatmari et al. 2016), but no ASD research findings have met the validity criteria of Weinberger et al. (2015). DSM-5 ASD research has found no s...

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Section: Rates Of Recovery From Asd Are Variedmentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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“…Some studies are now taking a life course health development perspective by focusing on trajectories (Kim et al 2015). The Pathways in ASD study, for example, followed roughly 400 children from the point of diagnosis at 2-4 years of age to the transition into primary school at 6 years of age allowing for the possibility of heterogeneous trajectories of autism symptoms and adaptive functioning.…”

Section: Childhoodmentioning

confidence: 99%

Life Course Health Development in Autism Spectrum Disorders

Drmic

Szatmári

Volkmar

2017

Handbook of Life Course Health Development

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Life course health development (LCHD) incorporates theories and empirical evidence from the biological, physical, and social sciences to formulate a framework that explains how health develops over the life course. The life course health development conceptual framework can be applied to autism spectrum disorders (ASD) to help prioritize a research agenda and improve health development across the lifespan for individuals with ASD, their families, and communities. The following chapter highlights some issues and findings that are pertinent to an understanding of ASD using the lens of the life course health development principles. The chapter begins with a description of the clinical phenotype, followed by epidemiology of the disorder, and reviews changes in classification and diagnosis over time. Pathogenesis of the disorder is discussed, including information pertaining to hereditability, genetic and nongenetic factors, epigenetics, biomarkers, and genotype-phenotype correlations. Long-term follow-up outcome studies of adult independence and quality of life are reviewed, including examination of predictors of outcome, as well as stability of the diagnosis, symptom presentation, and cognitive functioning over time. Areas of key transitions over the life course are discussed from childhood to later adulthood. In addition, the importance of mental health status and care are highlighted. Finally, a number of research, data/methods, and translational priorities are offered that may help lead to a better understanding of life course health development in ASD.

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“…9 Another recent study identified 4 phenotypic clusters and found that they varied in short-term prognosis regarding diagnostic stability. 10 To understand how ASD-related characteristics are manifested in the general population, one recent study clustered 2343 cases based on the autism spectrum quotient (AQ), revealing 2- and 3-factor solutions varying in combinations of severity of impairments in socialization, mentalizing, and orientation to detail. 11 …”

Section: Complexities Of Autism Spectrum Disordermentioning

confidence: 99%

Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders

Beversdorf

2016

J Dev Behav Pediatr

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ABSTRACT:Despite the progress made in understanding the biology of autism spectrum disorder (ASD), effective biological interventions for the core symptoms remain elusive. Because of the etiological heterogeneity of ASD, identification of a “one-size-fits-all” treatment approach will likely continue to be challenging. A meeting was convened at the University of Missouri and the Thompson Center to discuss strategies for stratifying patients with ASD for the purpose of moving toward precision medicine. The “white paper” presented here articulates the challenges involved and provides suggestions for future solutions.

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Examining the phenotypic heterogeneity of early autism spectrum disorder: subtypes and short‐term outcomes

Cited by 133 publications

References 30 publications

ASD Validity

ASD Validity

Life Course Health Development in Autism Spectrum Disorders

Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders

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