Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder
This publication is included in the Autistic Autism Scholarship Project. one author of this publication is identified as autistic in the project.
About the autistic author markerRødgaard, E. M., Rodríguez-Herreros, B., Zeribi, A., Jensen, K., Courchesne, V., Douard, E., Gagnon, D., Huguet, G., Jacquemont, S., & Mottron, L. (2024). Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder. Molecular Autism, 15(1), 15-15. https://doi.org/10.1186/s13229-024-00592-7
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Abstract
Abstract Background Clinicians diagnosing autism rely on diagnostic criteria and instruments in combination with an implicit knowledge based on clinical expertise of the specific signs and presentations associated with the condition. This implicit knowledge influences how diagnostic criteria are interpreted, but it cannot be directly observed. Instead, insight into clinicians’ understanding of autism can be gained by investigating their diagnostic certainty. Modest correlations between the certainty of an autism diagnosis and symptom load have been previously reported. Here, we investigated the associations of diagnostic certainty with specific items of the ADOS as well as other clinical features including head circumference. Methods Phenotypic data from the Simons Simplex Collection was used to investigate clinical correlates of diagnostic certainty in individuals diagnosed with Autistic Disorder (n = 1511, age 4 to 18 years). Participants were stratified by the ADOS module used to evaluate them. We investigated how diagnostic certainty was associated with total ADOS scores, age, and ADOS module. We calculated the odds-ratios of being diagnosed with the highest possible certainty given the presence or absence of different signs during the ADOS evaluation. Associations between diagnostic certainty and other cognitive and clinical variables were also assessed. Results In each ADOS module, some items showed a larger association with diagnostic certainty than others. Head circumference was significantly higher for individuals with the highest certainty rating across all three ADOS modules. In turn, head circumference was positively correlated with some of the ADOS items that were associated with diagnostic certainty, and was negatively correlated with verbal/nonverbal IQ ratio among those assessed with ADOS module 2. Limitations The investigated cohort was heterogeneous, e.g. in terms of age, IQ, language level, and total ADOS score, which could impede the identification of associations that only exist in a subgroup of the population. The variability of the certainty ratings in the sample was low, limiting the power to identify potential associations with other variables. Additionally, the scoring of diagnostic certainty may vary between clinicians. Conclusion Some ADOS items may better capture the signs that are most associated with clinicians’ implicit knowledge of Autistic Disorder. If replicated in future studies, new diagnostic instruments with differentiated weighting of signs may be needed to better reflect this, possibly resulting in better specificity in standardized assessments.
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These indicators describe the bibliography cited by this publication. An author name is counted each time it appears in one cited reference, so the same person can be counted more than once. Names not yet linked to an author already present in AutiHub are treated as unknown, not as non-autistic. Last computed: 15 Sep 2026 07:45.
- With a DOI
- 33
- Without a DOI, from raw bibliography text
- 4
- References with detected author names
- 37 / 39 (94.9%)
- Without detected author names
- 2
- Without a structured title
- 3
- Without a stable identifier
- 4
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- 2
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- 0
- From DOI or external metadata
- 188
- From validated raw bibliography text
- 0
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- 0
- Raw names still to review
- 2
-
Sarah R. Crissey (2009). Educational Attainment in the United States: 2007.Type: Article OpenAlex: https://openalex.org/W86959386OpenAlex
-
(n.d.). Kanner L. Autistic Disturbances of Affective Contact. Nervous Child. 1943;(2).Type: OtherCrossref
-
Janet E. Lainhart , Erin D. Bigler , Maureen Bocian , Hilary Coon , Elena Dinh , Géraldine Dawson et al. (2006). Head circumference and height in autism: A study by the collaborative program of excellence in autism . American Journal of Medical Genetics Part A, 140A(21), 2257-2274. Wiley.Crossref OpenAlex OpenCitations
-
Curtis K. Deutsch , Robert M. Joseph (2003). Brief Report: Cognitive Correlates of Enlarged Head Circumference in Children with Autism . Journal of Autism and Developmental Disorders, 33(2), 209-215. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
MV Lombardo (2022). Lombardo MV, Mandelli V. Rethinking our concepts and assumptions about Autism. Front Psychiatry. 2022;13(June):1–7. Front Psychiatry, 13(June), 1.Type: OtherCrossref
-
Juliette Rabot , Eya-Mist Rødgaard *Autistic author. Learn more… , Ridha Joober , Guillaume Dumas , Danilo Bzdok , Boris Bernhardt et al. (2023). Genesis, modelling and methodological remedies to autism heterogeneity . Neuroscience & Biobehavioral Reviews, 150, 105201. Elsevier BV.
-
Katherine Gotham , Somer Bishop , Vanessa Hus , Marisela Huerta , Sabata Lund , Andreas Buja et al. (2013). Exploring the Relationship Between Anxiety and Insistence on Sameness in Autism Spectrum Disorders . Autism Research, 6(1), 33-41. Wiley.Crossref OpenAlex OpenCitations
-
Éric Fombonne (2023). Editorial: Is autism overdiagnosed? Journal of Child Psychology and Psychiatry, 64(5), 711-714. Wiley.Crossref OpenAlex OpenCitations
-
Karoline Alexandra Havdahl , Vanessa Bal , Marisela Huerta , Andrew Pickles , Anne-Siri Øyen , Camilla Stoltenberg et al. (2016). Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research . Journal of the American Academy of Child & Adolescent Psychiatry, 55(12), 1054-1063.e3. Elsevier BV.Crossref OpenAlex OpenCitations
-
Roberto Sacco , Stefano Gabriele , Antonio M. Persico (2015). Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis . Psychiatry Research: Neuroimaging, 234(2), 239-251. Elsevier BV.Crossref OpenAlex OpenCitations
-
Stijn Vanheule (2017). Psychiatric Diagnosis Revisited . Springer International Publishing.Crossref OpenAlex OpenCitations
-
Andrea Trubanova Wieckowski , Ashley de Marchena , Yasemin Algur , Lashae Nichols , Sherira Fernandes , Rebecca P. Thomas et al. (2021). The first five minutes: Initial impressions during autism spectrum disorder diagnostic evaluations in young children . Autism Research, 14(9), 1923-1934. Wiley.Crossref OpenAlex OpenCitations
-
Carolyn M. Shivers , Lauren K. Deisenroth , Julie Taylor (2013). Patterns and Predictors of Anxiety Among Siblings of Children with Autism Spectrum Disorders . Journal of Autism and Developmental Disorders, 43(6), 1336-1346. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
M Polanyi (1966). The Tacit Dimension . The Tacit Dimension.Type: OtherCrossref
-
Cheryl Klaiman , Stormi White , Shana Richardson , Emma McQueen , Hasse Walum , Christa Aoki et al. (2024). Expert Clinician Certainty in Diagnosing Autism Spectrum Disorder in 16–30-Month-Olds: A Multi-site Trial Secondary Analysis . Journal of Autism and Developmental Disorders, 54(2), 393-408. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
Daniel H Geschwind , Pat Levitt (2007). Autism spectrum disorders: developmental disconnection syndromes . Current Opinion in Neurobiology, 17(1), 103-111. Elsevier BV.Crossref OpenAlex OpenCitations
-
Darren Hedley , Neil Brewer , Rose Nevill , Mirko Uljarević , Eric Butter , James A. Mulick (2016). The Relationship Between Clinicians’ Confidence and Accuracy, and the Influence of Child Characteristics, in the Screening of Autism Spectrum Disorder . Journal of Autism and Developmental Disorders, 46(7), 2340-2348. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
Martha R. Herbert (2005). Large Brains in Autism: The Challenge of Pervasive Abnormality . The Neuroscientist, 11(5), 417-440. SAGE Publications.Crossref OpenAlex OpenCitations
-
Thomas W Frazier , Stelios Georgiades , Somer Bishop , Antonio Y. Hardan (2014). Behavioral and Cognitive Characteristics of Females and Males With Autism in the Simons Simplex Collection . Journal of the American Academy of Child & Adolescent Psychiatry, 53(3), 329-340.e3. Elsevier BV.Crossref OpenAlex OpenCitations
-
Gerald D. Fischbach , Catherine Lord (2010). The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors . Neuron, 68(2), 192-195. Elsevier BV.Crossref OpenAlex OpenCitations
-
Robert M. Joseph , Helen Tager‐Flusberg , Catherine Lord (2002). Cognitive profiles and social‐communicative functioning in children with autism spectrum disorder . Journal of Child Psychology and Psychiatry, 43(6), 807-821. Wiley.Crossref OpenAlex OpenCitations
-
Christina G. McDonnell , Theresa Andrzejewski , Saily Gomez Batista , Elizabeth A. DeLucia , Megan Fok , Kasey Stanton (2025). Demographic Factors Relate to Autism Diagnostic Certainty: Implications for Enhancing Equitable Diagnosis Among Youth . Journal of Clinical Child & Adolescent Psychology, 54(1), 152-162. Informa UK Limited.Crossref OpenAlex OpenCitations
-
Laurent Mottron (2021). Progress in autism research requires several recognition‐definition‐investigation cycles . Autism Research, 14(10), 2230-2234. Wiley.Crossref OpenAlex OpenCitations
-
F. J. ANSCOMBE (1956). On estimating binomial response relations . Biometrika, 43(3-4), 461-464. Oxford University Press (OUP).Crossref OpenAlex OpenCitations
-
Christina G. McDonnell , Catherine C. Bradley , Stephen M. Kanne , Clara Lajonchere , Zachary Warren , Laura A. Carpenter (2019). When Are We Sure? Predictors of Clinician Certainty in the Diagnosis of Autism Spectrum Disorder . Journal of Autism and Developmental Disorders, 49(4), 1391-1401. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
Sarah White , Helen O’Reilly , Uta Frith (2009). Big heads, small details and autism . Neuropsychologia, 47(5), 1274-1281. Elsevier BV.Type: Article DOI: 10.1016/j.neuropsychologia.2009.01.012 OpenAlex: https://openalex.org/W2073782996Crossref OpenAlex OpenCitations
-
Somer Bishop , Cristan Farmer , Vanessa Bal , Elise Robinson , A. Jeremy Willsey , Donna M. Werling et al. (2017). Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder . American Journal of Psychiatry, 174(6), 576-585. American Psychiatric Association Publishing.Crossref OpenAlex OpenCitations
-
Cristan Farmer , Christine Golden , Audrey Thurm (2016). Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders . Child Neuropsychology, 22(5), 556-569. Informa UK Limited.Crossref OpenAlex OpenCitations
-
Laurent Mottron (2021). A radical change in our autism research strategy is needed: Back to prototypes . Autism Research, 14(10), 2213-2220. Wiley.Crossref OpenAlex OpenCitations
-
Pauline Chaste , Lambertus Klei , Stephan J. Sanders , Michael T. Murtha , Vanessa Hus , Jennifer Lowe *Autistic author. Learn more… et al. (2013). Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait . Biological Psychiatry, 74(8), 576-584. Elsevier BV.Crossref OpenAlex OpenCitations
-
Lorna Wing (1981). Asperger's syndrome: a clinical account . Psychological Medicine, 11(1), 115-129. Cambridge University Press (CUP).Crossref OpenAlex OpenCitations
-
Yoav Benjamini , Yosef Hochberg (1995). Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing . Journal of the Royal Statistical Society Series B: Statistical Methodology, 57(1), 289-300. Oxford University Press (OUP).Crossref OpenAlex OpenCitations
-
Katarzyna Chawarska (2011). Early Generalized Overgrowth in Boys With Autism . Archives of General Psychiatry, 68(10), 1021. American Medical Association (AMA).Crossref OpenAlex OpenCitations
-
Katherine Gotham , Andrew Pickles , Catherine Lord (2009). Standardizing ADOS Scores for a Measure of Severity in Autism Spectrum Disorders . Journal of Autism and Developmental Disorders, 39(5), 693-705. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
Catherine Lord , Susan Risi , Linda Lambrecht , Edwin H. Cook , Bennett L. Leventhal , Pamela C. DiLavore et al. (2000). The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism . Journal of Autism and Developmental Disorders, 30(3), 205-223. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
L Kanner (1968). Autistic disturbances of affective contact. Acta Paedopsychiatr, 35(4), 100.Type: Article OpenAlex: https://openalex.org/W2192638454OpenAlex
-
Lisa D. Wiggins , Brian Barger , Eric Moody , Gnakub Soke , Juhi Pandey , Susan Levy (2019). Brief Report: The ADOS Calibrated Severity Score Best Measures Autism Diagnostic Symptom Severity in Pre-School Children . Journal of Autism and Developmental Disorders, 49(7), 2999-3006. Springer Science and Business Media LLC.Crossref OpenAlex OpenCitations
-
Michael Lombardo , Veronica Mandelli (2022). Rethinking Our Concepts and Assumptions About Autism . Frontiers in Psychiatry, 13, 903489-903489. Frontiers Media SA.OpenAlex
-
(n.d.). U. S. Census Bureau. Educational Attainment in the United States. 2018.Type: OtherCrossref