In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review

Parellada, Mara; Andreu-Bernabeu, Álvaro; Burdeus, Mónica; Cáceres, Antonia San José; Urbiola, Elena; Carpenter, Linda L.; Kraguljac, Nina; McDonald, William M.; Nemeroff, Charles B.; Rodriguez, Carolyn I.; Widge, Alik S.; State, Matthew W.; Sanders, Stephan J.

doi:10.1176/appi.ajp.21100992

Cited by 53 publications

(22 citation statements)

References 61 publications

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“…[247][248][249] For example, IL-6 has been extensively studied and its levels are elevated in ASD and correlate with severity. 199 Indeed, cytokine changes have also been reported in postmortem brain tissue 250,251 and PBMCs. 248 The changes in mRNA expression of some cytokines were found in whole blood from subjects with ASD.…”

Section: Biomarkers Associated With Immunity/inflammationmentioning

confidence: 98%

“…A recent study conducted a systematic review of diagnostic molecular markers for ASD. 199 The majority of these markers are measured peripherally via blood, and although there is considerable variation between and within individual biomarkers, two major groups are apparent, one consisting of cytokines and growth factors (e.g., IL-6, brain-derived neurotrophic factor) and the other consisting of amino acids, neurotransmitters (e.g., cysteine, serotonin, GABA), and hormones (e.g., vitamin D). In between these two groups are molecules related to reduction/oxidation (redox), including GSH, which is the most frequently detected molecule.…”

Section: Study On Diagnostic Biomarkers Of Asdmentioning

confidence: 99%

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Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy

Zhuang,

Liang,

et al. 2024

MedComm

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Autism spectrum disorder (ASD) has become a common neurodevelopmental disorder. The heterogeneity of ASD poses great challenges for its research and clinical translation. On the basis of reviewing the heterogeneity of ASD, this review systematically summarized the current status and progress of pathogenesis, diagnostic markers, and interventions for ASD. We provided an overview of the ASD molecular mechanisms identified by multi‐omics studies and convergent mechanism in different genetic backgrounds. The comorbidities, mechanisms associated with important physiological and metabolic abnormalities (i.e., inflammation, immunity, oxidative stress, and mitochondrial dysfunction), and gut microbial disorder in ASD were reviewed. The non‐targeted omics and targeting studies of diagnostic markers for ASD were also reviewed. Moreover, we summarized the progress and methods of behavioral and educational interventions, intervention methods related to technological devices, and research on medical interventions and potential drug targets. This review highlighted the application of high‐throughput omics methods in ASD research and emphasized the importance of seeking homogeneity from heterogeneity and exploring the convergence of disease mechanisms, biomarkers, and intervention approaches, and proposes that taking into account individuality and commonality may be the key to achieve accurate diagnosis and treatment of ASD.

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Section: Biomarkers Associated With Immunity/inflammationmentioning

confidence: 98%

Section: Study On Diagnostic Biomarkers Of Asdmentioning

confidence: 99%

Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy

Zhuang,

Liang,

et al. 2024

MedComm

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“…Establishing robust biomarkers for autism spectrum disorder (ASD) is essential for understanding the pathophysiological mechanisms of this disorder and for early diagnosis and appropriate interventions. A plethora of modalities, including genetics, electrophysiology, and neuroimaging, are employed to identify biomarkers for ASD (1) . Yet, no reliable biomarker has been established (2) because of the complicated relationships of various factors, such as genetic and environmental factors (3, 4) , biological sex (5) , cultural factors (6) , and developmental factors (7, 8) , all of which form the heterogeneity of ASD.…”

Section: Introductionmentioning

confidence: 99%

Generalizable neuromarker for autism spectrum disorder across imaging sites and developmental stages: A multi-site study

Itahashi

Yamashita

Takahara

et al. 2023

Preprint

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Autism spectrum disorder (ASD) is a lifelong condition, and its underlying biological mechanisms remain elusive. The complexity of various factors, including inter-site and development-related differences, makes it challenging to develop generalizable neuroimaging-based biomarkers for ASD. This study used a large-scale, multi-site dataset of 730 Japanese adults to develop a generalizable neuromarker for ASD across independent sites (U.S., Belgium, and Japan) and different developmental stages (children and adolescents). Our adult ASD neuromarker achieved successful generalization for the US and Belgium adults (area under the curve [AUC] = 0.70) and Japanese adults (AUC = 0.81). The neuromarker demonstrated significant generalization for children (AUC = 0.66) and adolescents (AUC = 0.71; all P<0.05, family-wise-error corrected). We identified 141 functional connections (FCs) important for discriminating individuals with ASD from TDCs. These FCs largely centered on social brain regions such as the amygdala, hippocampus, dorsomedial and ventromedial prefrontal cortices, and temporal cortices. Finally, we mapped schizophrenia (SCZ) and major depressive disorder (MDD) onto the biological axis defined by the neuromarker and explored the biological continuity of ASD with SCZ and MDD. We observed that SCZ, but not MDD, was located proximate to ASD on the biological dimension defined by the ASD neuromarker. The successful generalization in multifarious datasets and the observed relations of ASD with SCZ on the biological dimensions provide new insights for a deeper understanding of ASD.

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“…In this scenario, combining different approaches to measure the E/I ratio in the same sample could provide valuable insight into the consistency and reliability of the E/I measurements. Another aspect that might add to the incongruences among studies is the intrinsic heterogeneity of ASD (22). The impact of E/I alterations in the autistic phenotype might vary across different forms of ASD.…”

Section: Introductionmentioning

confidence: 99%

Role of cortical excitatory/inhibitory imbalance in autism spectrum disorders from a symptom severity trajectories framework: a study protocol

Colomar

Cáceres

Álvarez‐Linera

et al. 2023

Preprint

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Background. There is considerable evidence reporting an excitatory/inhibitory (E/I) cortical imbalance in autism spectrum disorders (ASD). However, previous findings on the direction of this imbalance and its relationship to ASD symptomatology are heterogeneous. Some factors contributing to these mixed results might be the methodological differences between studies assessing the E/I ratio and the intrinsic variability within the autistic spectrum. Studying the evolution of ASD symptoms and the factors that modulate it might help to explain and reduce this variability. Here we present a study protocol to explore the longitudinal role of E/I imbalance in ASD symptoms, combining different approaches to measure the E/I ratio and using the trajectories of symptom severity as a framework. Methods. This observational two time-point prospective study assesses the E/I ratio and the evolution of the behavioural symptoms in a sample of at least 98 participants with ASD. Participants are enrolled at 12 to 72 months of age and followed from 18 to 48 months after. A comprehensive battery of tests is applied to evaluate ASD clinical symptoms. The E/I ratio is approached from electrophysiology, magnetic resonance, and genetics. We will calculate the individual change for the main ASD symptoms and, based on that, we will define the trajectories of symptom severity. Then, we will investigate the correlation between measures of excitation/inhibition balance and autistic symptomatology cross-sectionally, as well as the ability of these measurements to predict changes in symptoms over time. Discussion. This study presents a robust multisystemic approach to the E/I imbalance theory in autism and its relation to divergent symptom trajectories. That setting will allow us to relate and compare the neurobiological information coming from different sources and its impact on behavioural symptoms while accounting for the high variability in ASD. The findings derived from this study could contribute to the ASD biomarkers research and might provide valuable evidence for the development of more personalized treatments in ASD.

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In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review

Cited by 53 publications

References 61 publications

Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy

Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy

Generalizable neuromarker for autism spectrum disorder across imaging sites and developmental stages: A multi-site study

Role of cortical excitatory/inhibitory imbalance in autism spectrum disorders from a symptom severity trajectories framework: a study protocol

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