Using developmental regression to reorganize the clinical importance of autistic atypicalities
Abstract Early regression (ER) is often reported in autistic children with a prototypical phenotype and has been proposed as a possible pathognomonic sign present in most autistic children. Despite the uncertainties attached to its definition and report, using ER to anchor the autism phenotype could...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2022-12-01
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| Series: | Translational Psychiatry |
| Online Access: | https://doi.org/10.1038/s41398-022-02263-8 |
| _version_ | 1811310892131811328 |
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| author | David Gagnon Abderrahim Zeribi Élise Douard Valérie Courchesne Guillaume Huguet Sébastien Jacquemont Mor Absa Loum Laurent Mottron |
| author_facet | David Gagnon Abderrahim Zeribi Élise Douard Valérie Courchesne Guillaume Huguet Sébastien Jacquemont Mor Absa Loum Laurent Mottron |
| author_sort | David Gagnon |
| collection | DOAJ |
| description | Abstract Early regression (ER) is often reported in autistic children with a prototypical phenotype and has been proposed as a possible pathognomonic sign present in most autistic children. Despite the uncertainties attached to its definition and report, using ER to anchor the autism phenotype could help identify the signs that best contribute to an autism diagnosis. We extracted retrospective data from 1547 autistic children between the ages of 6 and 18 years from the Simons Simplex collection. Logistic regression identified the atypicalities associated with a history of ER. Stepwise variable selection using logistic regression analysis followed by a bootstrap procedure of 1000 iterations identified the cluster of atypicalities best associated with ER. Linear and logistic regressions measured the association between combinations of atypicalities within the identified cluster and adaptative behaviors, diagnostic areas of severity, and other categories. Seven atypicalities significantly increased the likelihood of having experienced ER (OR = 1.73–2.13). Four (“hand leading—ever”, “pronominal reversal—ever”, “never shakes head at age 4–5” and “stereotypic use of objects or interest in parts of objects—ever”), when grouped together, best characterized the phenotype of verbal autistic children with ER. This clustering of signs was associated with certain persistent language difficulties, higher summary scores on a diagnostic scale for autism, and greater odds of receiving an “autistic disorder” diagnosis instead of another pervasive developmental disorder (PDD) diagnosis. These results raise questions about using language as a clinical specifier, defining cross-sectional signs independent of their relationship with an early developmental trajectory, and relying on polythetic criteria or equivalent weighted autistic atypicalities. |
| first_indexed | 2024-04-13T10:07:02Z |
| format | Article |
| id | doaj.art-0e350c9a6215454c8c4f75c5b61d5efd |
| institution | Directory Open Access Journal |
| issn | 2158-3188 |
| language | English |
| last_indexed | 2024-04-13T10:07:02Z |
| publishDate | 2022-12-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Translational Psychiatry |
| spelling | doaj.art-0e350c9a6215454c8c4f75c5b61d5efd2022-12-22T02:51:02ZengNature Publishing GroupTranslational Psychiatry2158-31882022-12-011211610.1038/s41398-022-02263-8Using developmental regression to reorganize the clinical importance of autistic atypicalitiesDavid Gagnon0Abderrahim Zeribi1Élise Douard2Valérie Courchesne3Guillaume Huguet4Sébastien Jacquemont5Mor Absa Loum6Laurent Mottron7Research Center of the CIUSSS-NIM, Hôpital Rivière-des-PrairiesDepartment of Pediatrics, University of MontrealPsychoeducation School, University of MontrealCampbell Family Mental Health Research Institute (CAMH)Department of Pediatrics, University of MontrealDepartment of Pediatrics, University of MontrealDepartment of Pediatrics, University of MontrealResearch Center of the CIUSSS-NIM, Hôpital Rivière-des-PrairiesAbstract Early regression (ER) is often reported in autistic children with a prototypical phenotype and has been proposed as a possible pathognomonic sign present in most autistic children. Despite the uncertainties attached to its definition and report, using ER to anchor the autism phenotype could help identify the signs that best contribute to an autism diagnosis. We extracted retrospective data from 1547 autistic children between the ages of 6 and 18 years from the Simons Simplex collection. Logistic regression identified the atypicalities associated with a history of ER. Stepwise variable selection using logistic regression analysis followed by a bootstrap procedure of 1000 iterations identified the cluster of atypicalities best associated with ER. Linear and logistic regressions measured the association between combinations of atypicalities within the identified cluster and adaptative behaviors, diagnostic areas of severity, and other categories. Seven atypicalities significantly increased the likelihood of having experienced ER (OR = 1.73–2.13). Four (“hand leading—ever”, “pronominal reversal—ever”, “never shakes head at age 4–5” and “stereotypic use of objects or interest in parts of objects—ever”), when grouped together, best characterized the phenotype of verbal autistic children with ER. This clustering of signs was associated with certain persistent language difficulties, higher summary scores on a diagnostic scale for autism, and greater odds of receiving an “autistic disorder” diagnosis instead of another pervasive developmental disorder (PDD) diagnosis. These results raise questions about using language as a clinical specifier, defining cross-sectional signs independent of their relationship with an early developmental trajectory, and relying on polythetic criteria or equivalent weighted autistic atypicalities.https://doi.org/10.1038/s41398-022-02263-8 |
| spellingShingle | David Gagnon Abderrahim Zeribi Élise Douard Valérie Courchesne Guillaume Huguet Sébastien Jacquemont Mor Absa Loum Laurent Mottron Using developmental regression to reorganize the clinical importance of autistic atypicalities Translational Psychiatry |
| title | Using developmental regression to reorganize the clinical importance of autistic atypicalities |
| title_full | Using developmental regression to reorganize the clinical importance of autistic atypicalities |
| title_fullStr | Using developmental regression to reorganize the clinical importance of autistic atypicalities |
| title_full_unstemmed | Using developmental regression to reorganize the clinical importance of autistic atypicalities |
| title_short | Using developmental regression to reorganize the clinical importance of autistic atypicalities |
| title_sort | using developmental regression to reorganize the clinical importance of autistic atypicalities |
| url | https://doi.org/10.1038/s41398-022-02263-8 |
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