Validation strategies for subtypes in psychiatry: A systematic review of research on autism spectrum disorder

Rentergem, Joost A. Agelink van; Deserno, Marie K.; Geurts, Hilde M.

doi:10.1016/j.cpr.2021.102033

Cited by 86 publications

(51 citation statements)

References 178 publications

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“…Although the GeoPref Test has a low false positive rate and exceptional specificity, sensitivity was modest. Given the considerable heterogeneity inherent in ASD 31 , 83 – 86 , and the fact that several studies highlight the likelihood of specific subtypes in ASD, this is not surprising 87 , 88 . Toddlers who demonstrate reduced levels of social visual attention as measured by the GeoPref Test may indeed represent a unique biological subtype.…”

Section: Discussionmentioning

confidence: 99%

Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype

Wen

Cheng

Andreason

et al. 2022

Sci Rep

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Few clinically validated biomarkers of ASD exist which can rapidly, accurately, and objectively identify autism during the first years of life and be used to support optimized treatment outcomes and advances in precision medicine. As such, the goal of the present study was to leverage both simple and computationally-advanced approaches to validate an eye-tracking measure of social attention preference, the GeoPref Test, among 1,863 ASD, delayed, or typical toddlers (12–48 months) referred from the community or general population via a primary care universal screening program. Toddlers participated in diagnostic and psychometric evaluations and the GeoPref Test: a 1-min movie containing side-by-side dynamic social and geometric images. Following testing, diagnosis was denoted as ASD, ASD features, LD, GDD, Other, typical sibling of ASD proband, or typical. Relative to other diagnostic groups, ASD toddlers exhibited the highest levels of visual attention towards geometric images and those with especially high fixation levels exhibited poor clinical profiles. Using the 69% fixation threshold, the GeoPref Test had 98% specificity, 17% sensitivity, 81% PPV, and 65% NPV. Sensitivity increased to 33% when saccades were included, with comparable validity across sex, ethnicity, or race. The GeoPref Test was also highly reliable up to 24 months following the initial test. Finally, fixation levels among twins concordant for ASD were significantly correlated, indicating that GeoPref Test performance may be genetically driven. As the GeoPref Test yields few false positives (~ 2%) and is equally valid across demographic categories, the current findings highlight the ability of the GeoPref Test to rapidly and accurately detect autism before the 2nd birthday in a subset of children and serve as a biomarker for a unique ASD subtype in clinical trials.

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Section: Discussionmentioning

confidence: 99%

Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype

Wen

Cheng

Andreason

et al. 2022

Sci Rep

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“…Our monogenetic subgroup of ASD children with SHANK3 defects exhibited both common and distinct disruptions in local and networked structural organization compared to those idiopathic ASD, suggesting both common and distinct neuropathological mechanisms underlying ASD with and without SHANK3 deficiency. Differentiating the heterogeneity in ASD is critical to both clinicians and researchers to understand the phenotype and pathophysiology of the syndrome (Agelink van Rentergem et al, 2021;Ziats et al, 2021). Our study of monogenic ASD patients may thus offer new insights into the diverse findings of previous neuroimaging studies of idiopathic ASD.…”

Section: Discussionmentioning

confidence: 98%

Common and Distinct Disruptions of Cortical Surface Morphology Between Autism Spectrum Disorder Children With and Without SHANK3 Deficiency

Liu

Huang

et al. 2021

Front. Neurosci.

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SH3 and Multiple Ankyrin Repeat Domains 3 (SHANK3)-caused autism spectrum disorder (ASD) may present a unique opportunity to clarify the heterogeneous neuropathological mechanisms of ASD. However, the specificity and commonality of disrupted large-scale brain organization in SHANK3-deficient children remain largely unknown. The present study combined genetic tests, neurobehavioral evaluations, and magnetic resonance imaging, aiming to explore the disruptions of both local and networked cortical structural organization in ASD children with and without SHANK3 deficiency. Multiple surface morphological parameters such as cortical thickness (CT) and sulcus depth were estimated, and the graph theory was adopted to characterize the topological properties of structural covariance networks (SCNs). Finally, a correlation analysis between the alterations in brain morphological features and the neurobehavioral evaluations was performed. Compared with typically developed children, increased CT and reduced nodal degree were found in both ASD children with and without SHANK3 defects mainly in the lateral temporal cortex, prefrontal cortex (PFC), temporo-parietal junction (TPJ), superior temporal gyrus (STG), and limbic/paralimbic regions. Besides commonality, our findings showed some distinct abnormalities in ASD children with SHANK3 defects compared to those without. Locally, more changes in the STG and orbitofrontal cortex were exhibited in ASD children with SHANK3 defects, while more changes in the TPJ and inferior parietal lobe (IPL) in those without SHANK3 defects were observed. For the SCNs, a trend toward regular network topology was observed in ASD children with SHANK3 defects, but not in those without. In addition, ASD children with SHANK3 defects showed more alterations of nodal degrees in the anterior and posterior cingulate cortices and right insular, while there were more disruptions in the sensorimotor areas and the left insular and dorsomedial PFC in ASD without SHANK3 defects. Our findings indicate dissociable disruptions of local and networked brain morphological features in ASD children with and without SHANK3 deficiency. Moreover, this monogenic study may provide a valuable path for parsing the heterogeneity of brain disturbances in ASD.

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“…These subgroups need to be further examined and validated in order to make specific recommendations for clinical care. A recent review of subtyping efforts in autism research provides a checklist for validating subtypes that will be useful for future studies ( Agelink van Rentergem et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

The Autism Phenome Project: Toward Identifying Clinically Meaningful Subgroups of Autism

et al. 2022

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One of the most universally accepted facts about autism is that it is heterogenous. Individuals diagnosed with autism spectrum disorder have a wide range of behavioral presentations and a variety of co-occurring medical and mental health conditions. The identification of more homogenous subgroups is likely to lead to a better understanding of etiologies as well as more targeted interventions and treatments. In 2006, we initiated the UC Davis MIND Institute Autism Phenome Project (APP) with the overarching goal of identifying clinically meaningful subtypes of autism. This ongoing longitudinal multidisciplinary study now includes over 400 children and involves comprehensive medical, behavioral, and neuroimaging assessments from early childhood through adolescence (2–19 years of age). We have employed several strategies to identify sub-populations within autistic individuals: subgrouping by neural, biological, behavioral or clinical characteristics as well as by developmental trajectories. In this Mini Review, we summarize findings to date from the APP cohort and describe progress made toward identifying meaningful subgroups of autism.

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Validation strategies for subtypes in psychiatry: A systematic review of research on autism spectrum disorder

Cited by 86 publications

References 178 publications

Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype

Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype

Common and Distinct Disruptions of Cortical Surface Morphology Between Autism Spectrum Disorder Children With and Without SHANK3 Deficiency

The Autism Phenome Project: Toward Identifying Clinically Meaningful Subgroups of Autism

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