Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder
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 int...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-04-01
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| Series: | Molecular Autism |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13229-024-00592-7 |
| _version_ | 1797219836388966400 |
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| author | Eya-Mist Rødgaard Borja Rodríguez-Herreros Abderrahim Zeribi Kristian Jensen Valérie Courchesne Elise Douard David Gagnon Guillaume Huguet Sebastien Jacquemont Laurent Mottron |
| author_facet | Eya-Mist Rødgaard Borja Rodríguez-Herreros Abderrahim Zeribi Kristian Jensen Valérie Courchesne Elise Douard David Gagnon Guillaume Huguet Sebastien Jacquemont Laurent Mottron |
| author_sort | Eya-Mist Rødgaard |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T12:39:58Z |
| format | Article |
| id | doaj.art-f156ce5c0ff94870b5111790df82b259 |
| institution | Directory Open Access Journal |
| issn | 2040-2392 |
| language | English |
| last_indexed | 2024-04-24T12:39:58Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Autism |
| spelling | doaj.art-f156ce5c0ff94870b5111790df82b2592024-04-07T11:20:49ZengBMCMolecular Autism2040-23922024-04-0115111510.1186/s13229-024-00592-7Clinical correlates of diagnostic certainty in children and youths with Autistic DisorderEya-Mist Rødgaard0Borja Rodríguez-Herreros1Abderrahim Zeribi2Kristian Jensen3Valérie Courchesne4Elise Douard5David Gagnon6Guillaume Huguet7Sebastien Jacquemont8Laurent Mottron9CIUSSS du Nord-de-l’Île-de-MontréalCIUSSS du Nord-de-l’Île-de-MontréalUHC Sainte-Justine Research Center, Université de MontréalDépartement de psychiatrie et addictologie, Université de MontréalCIUSSS du Nord-de-l’Île-de-MontréalDépartement de psychiatrie et addictologie, Université de MontréalCIUSSS du Nord-de-l’Île-de-MontréalUHC Sainte-Justine Research Center, Université de MontréalUHC Sainte-Justine Research Center, Université de MontréalCIUSSS du Nord-de-l’Île-de-MontréalAbstract 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.https://doi.org/10.1186/s13229-024-00592-7DiagnosisCertaintyADOSMacrocephaly |
| spellingShingle | Eya-Mist Rødgaard Borja Rodríguez-Herreros Abderrahim Zeribi Kristian Jensen Valérie Courchesne Elise Douard David Gagnon Guillaume Huguet Sebastien Jacquemont Laurent Mottron Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder Molecular Autism Diagnosis Certainty ADOS Macrocephaly |
| title | Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder |
| title_full | Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder |
| title_fullStr | Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder |
| title_full_unstemmed | Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder |
| title_short | Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder |
| title_sort | clinical correlates of diagnostic certainty in children and youths with autistic disorder |
| topic | Diagnosis Certainty ADOS Macrocephaly |
| url | https://doi.org/10.1186/s13229-024-00592-7 |
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