Facilitating Autism Research

Fein, Deborah; Helt, Molly

doi:10.1017/s1355617717001096

Cited by 20Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersChild Nutrition and Feeding Issues

Facilitating Autism Research

Fein, Deborah, Helt, Molly·2017·Journal of the International Neuropsychological Society

DOI 10.1017/s1355617717001096

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Abstract

Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903–915)

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Attempts to subtype ASD and look at environmental and genetic risk factors within subtypes including sex, comorbidities, verbal abilities, neurocognitive and biological endophenotypes have thus far not been very fruitful.
“However, despite effort to subtype ASD and look at environmental and genetic risk factors within subtypes including sex, comorbidities, verbal abilities, neurocognitive and biological endophenotypes, these attempts have thus far not been very fruitful [265].”
From The contribution of environmental exposure to the etiology of autism spectrum disorder (2019) · cites this paper as [265]

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BackgroundInfluential
Regression, Developmental Trajectory and Associated Problems in Disorders in the Autism Spectrum: The SNAP Study
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Pain Sensitivity and Observer Perception of Pain in Individuals with Autistic Spectrum Disorder
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“Possible high pain tolerance (although the possibility has been raised that it is the expression rather than the experience of pain that differs) (Allely, 2013) and distinctive physical parameters (e.g., head and body growth, dysmorphology) are other features likely to be relatively uninfluenced by…”
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Autism Plus Versus Autism Pure
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ASD Validity
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Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes
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Why Autism Must be Taken Apart
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Autism Spectrum Disorders (ASD) in Blind Children: Very High Prevalence, Potentially Better Outlook
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Basing psychiatric classification on scientific foundation: Problems and prospects
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The ASD diagnosis has blocked the discovery of valid biological variation in neurodevelopmental social impairment
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Autism and Comorbid Psychiatric Disorders: Assessment, Treatment, Services and Supports
Matthews, M. (2016) · Otago University Research Archive (University of Otago) · Cited by 1 · see citing works

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The contribution of environmental exposure to the etiology of autism spectrum disorder
Bölte, S., Girdler, S., & Marschik, P. B. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-018-2988-4 · Cited by 509 · see citing works
Autism severity and its relationship to disability
Waizbard‐Bartov, E., FEIN, D. A., Lord, C., & Amaral, D. G. (2023) · Autism Research · doi:10.1002/aur.2898 · Cited by 105 · see citing works
“Fein and Helt (2017) also suggest several approaches that could be included in classifying research “micro-groups” (Waterhouse & Gillberg, 2014), such as noting behaviors that seem relatively impervious to environmental differences (e.g., high pain thresholds, social improvement with fever),…”
BackgroundSelf-citation
The impact of glutathione metabolism in autism spectrum disorder
Bjørklund, G., Doşa, M. D., Maes, M. H. J., Dadar, M., Frye, R. E., Peana, M., & Chirumbolo, S. (2021) · Pharmacological Research · doi:10.1016/j.phrs.2021.105437 · Cited by 77 · see citing works
Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study
McCormick, C. E. B., Kavanaugh, B. C., Sipsock, D., Righi, G., Oberman, L. M., Moreno‐De‐Luca, D., Uzun, E. D. G., Best, C. R., Jerskey, B. A., Quinn, J. G., et al. (2020) · Autism Research · doi:10.1002/aur.2261 · Cited by 52 · see citing works
“…high level of reliability, the significant heterogeneity of ASD manifestations across multiple levels of analysis (e.g., genetic, neural, behavioral, cognitive) has created a notable degree of variability in well-designed research studies [Fein & Helt, 2017; Gillberg & Fernell, 2014; Rutter, 2014].”
Result
Atypicalities of Gesture Form and Function in Autistic Adults
de Marchena, A. B., Kim, E.-Y., Bagdasarov, A., Parish‐Morris, J., Maddox, B. B., Brodkin, E. S., & Schultz, R. T. (2018) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-018-3829-x · Cited by 45 · see citing works
“We appreciate the challenges inherent in conducting fine-grained analyses across a wide range of behaviors at once, and, as others have argued, consider this to be one of the most important frontiers facing autism research (Fein and Helt 2017).”
Background
Autism Pathogenesis: The Superior Colliculus
Jure, R. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.01029 · Cited by 34 · see citing works
“This complexity is increased by prenatal and postnatal genes-environment interactions (Fein and Helt, 2017).”
Background
DSM-5 symptom expression in toddlers
Coulter, K. L., Barton, M. L., Robins, D. L., Stone, W. L., & FEIN, D. A. (2021) · Autism · doi:10.1177/13623613211000160 · Cited by 12 · see citing works
“…in this age group, involves both ASD dimensions, despite theoretical controversies over the relationship between these two domains (reviewed in Fein and Helt (2017)) and previous work suggesting that RRBs may not be broadly apparent until somewhat later in childhood (Barton et al., 2013;…”
BackgroundSelf-citation
Are people with autism prosopagnosic?
Kamensek, T., Susilo, T., Iarocci, G., & Oruç, İ. (2023) · Autism Research · doi:10.1002/aur.3030 · Cited by 10 · see citing works
“The manifestations of autism differ widely between individuals, including substantial heterogeneity in behavioral and cognitive functioning, course, and response to intervention (Fein & Helt, 2017; Masi et al., 2017; McCormick et al., 2020).”
Background
Enhancement of an Optimized Key for Database Sanitization to Ensure the Security and Privacy of an Autism Dataset
Rahman, M. M., Muniyandi, R. C., Sahran, S., & Mohamed, S. B. (2021) · Symmetry · doi:10.3390/sym13101912 · Cited by 9 · see citing works
“In addition, electronic versions of record-keeping can ensure the efficiency of coordination and sharing information between sectors such as health, education, and social care [8,9].”
Background
Influence of swimming on sensory functioning, quality of life and behavior of children with autism
Musiyenko, O. V., Chopyk, R. V., & Kizlo, N. B. (2020) · Health sport rehabilitation · doi:10.34142/hsr.2020.06.03.07 · Cited by 8 · see citing works
Insights from losing the autism diagnosis: Autism spectrum disorder as a biological entity
Eigsti, I., & FEIN, D. A. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.972612 · Cited by 6 · see citing works
“Fein and Helt (17) argue that lack of co-occurrence or genetic linkage between the two autism domains in the general population does not bear directly on their relationship in a neurodevelopmental syndrome.”
BackgroundSelf-citation
Autism Spectrum Disorder Diagnosis and Other Child, Family, and Community Risk Factors for Obesity among Children and Adolescents Aged 10–17 Years in the United States: A Mediation Analysis
Buro, A. W., Salinas‐Miranda, A., Marshall, J. T., Gray, H. L., & Kirby, R. S. (2022) · Childhood Obesity · doi:10.1089/chi.2021.0260 · Cited by 5 · see citing works
“17,18 Research on obesity in children and adolescents with and without ASD exploring synergistic effects among multiple social-ecological risk factors is limited.”
Response to “A radical change in our autism research strategy is needed: Back to prototypes” by Mottron et al. (2021)
FEIN, D. A., Eigsti, I., & Barton, M. L. (2021) · Autism Research · doi:10.1002/aur.2596 · Cited by 4 · see citing works
Self-citation
‘Prototypical autism’ research is likely a dead end
FEIN, D. A., Amaral, D. G., & Waizbard‐Bartov, E. (2024) · The Transmitter · doi:10.53053/kzaa8884 · Cited by 2 · see citing works
Self-citation
Autism Severity and its Relationship to Disability
Waizbard‐Bartov, E., FEIN, D. A., Lord, C., & Amaral, D. G. (2024) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/appi.focus.24022007 · Cited by 2 · see citing works
Self-citation
Autism: a new approach to etiopathogenesis and treatment
Dmytrivna, R. O. (2025) · Journal of Psychology & Clinical Psychiatry · doi:10.15406/jpcpy.2025.16.00812 · Cited by 2 · see citing works
Застосування скелелазіння у адаптивному фізичному вихованні дітей з розладами спектру аутизму
Musiyenko, O. V., & Kizlo, К. (2019) · Health sport rehabilitation · doi:10.34142/hsr.2019.05.01.08 · Cited by 2 · see citing works
Reinvigorating the Promise of the National Database for Autism Research (NDAR) to Advance Autism Knowledge
Stransky, M. L., Cobb, L., Menon, N., Barnard, E., Belfleur, C., Scahill, L. D., & Kuhn, J. (2024) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-024-06641-7 · Cited by 1 · see citing works
“NDAR was created to accelerate autism knowledge and promote research discoveries beyond the scope of individual studies through data sharing and collaboration (Al-jawahiri & Milne, 2017; Fein & Helt, 2017).”
Autism
Wang, T. (2020) · Springer eBooks · doi:10.1007/978-3-030-54666-3_12
The influence of swimming on sensory functioning, quality of life and behavior of children with autism
Musiyenko, O. V., Волошин, О. Р., & Kopko, I. I. (2023) · Izdevniecība “Baltija Publishing” eBooks · doi:10.30525/978-9934-26-299-9-7

Authors: Fein, D., & Helt, M.
Affiliations: University of Connecticut (US)
Trinity College (US)
Corresponding author: Fein, Deborah
ORCID: Fein, Deborah
Venue: Journal of the International Neuropsychological Society
Publisher: Cambridge University Press (CUP)
Published: 2017-10
Volume: 23
Issue: 9-10
Pages: 903-915
ISSN: 1355-6177 (ISSN-L)
1469-7661
DOI: 10.1017/s1355617717001096
OpenAlex: W2772965363
Cited by: 20
References: 148
Citations by year: 2025: 1 · 2024: 3 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 3 · 2019: 2 · 2018: 2
FWCI: 0.21
Type: journal article
Language: en
Open access: closed
Licence: www.cambridge.org/core/terms (unspecified, 64 d)
Locations: Journal of the International Neuropsychological Society (publishedVersion)
PubMed (publishedVersion)
Funders: U.S. Department of Education
University of Connecticut
National Institutes of Health
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
Keywords: autism spectrum disorder, social dysfunction, restricted and repetitive behaviors, phenotypic heterogeneity, environmental risk factors, early intervention, longitudinal course
MeSH terms: Autistic Disorder, Mental Disorders, Brain, Humans, Neuropsychology, Neurocognitive Disorders, Biomedical Research, History, 20th Century, History, 21st Century, Genetic Association Studies

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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Facilitating Autism Research

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks