{"title":"成年期自闭症诊断的途径。","authors":"Isabelle Dufour, Yohann Chiu, Sébastien Brodeur, Mireille Courteau, Josiane Courteau, Émilie Dubé, Alain Lesage, Éric Fombonne, Mélanie Couture","doi":"10.1186/s11689-025-09627-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>This study explored Trajectories of Diagnoses (TDs) preceding a first diagnosis of autism in adulthood.</p><p><strong>Methods: </strong>This retrospective cohort study used health administrative data from Quebec, Canada, and included all adults with a first recorded diagnosis of autism between 2012 and 2017. A TDs was defined as a succession of medical records of psychiatric and/or neurodevelopmental conditions over time. These TDs were retrospectively analyzed from 2002 to 2017, using a state sequence analysis of diagnoses, in order: Autism, Intellectual or developmental disabilities (IDDs), Schizophrenia spectrum disorder (SSD), Bipolar Disorder (BD), Depressive Disorder (DD), Anxiety Disorder (AD), Attention-deficit/hyperactivity disorder (ADHD), and Other psychiatric and/or neurodevelopmental conditions.</p><p><strong>Results: </strong>The cohort included 2799 adults with a first recorded diagnosis of autism between 2012 and 2017. Several psychiatric and/or neurodevelopmental conditions were recorded since 2002, including AD (77.5%), DD (58.0%), SSD (49.4%), BD (48.3%), and IDDs (33.2%). Results revealed 5 distinct types of TDs. Types 1 (63.8%), 2 (17.6%) and 3 (6%) represented individuals in younger age groups with similar characteristics but with very different sequences of diagnoses, characterized by mixed diagnoses in type 1, SSD and AD in Type 2, and IDDs, DD, AD, and ADHD in type 3. Types 4 and 5 (9.0% and 3.6%), representing middle-aged/older groups, displayed distinctive TDs associated with high healthcare use, almost entirely associated with SSD (Type 4) and BD (Type 5).</p><p><strong>Conclusion: </strong>This study proposes a complementary examination of the multiple pathways to diagnosis experienced by adults, highlighting the need to address differential diagnosis and co-occurring psychiatric and neurodevelopmental conditions.</p>","PeriodicalId":16530,"journal":{"name":"Journal of Neurodevelopmental Disorders","volume":"17 1","pages":"35"},"PeriodicalIF":4.1000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12217371/pdf/","citationCount":"0","resultStr":"{\"title\":\"Pathways to autism diagnosis in adulthood.\",\"authors\":\"Isabelle Dufour, Yohann Chiu, Sébastien Brodeur, Mireille Courteau, Josiane Courteau, Émilie Dubé, Alain Lesage, Éric Fombonne, Mélanie Couture\",\"doi\":\"10.1186/s11689-025-09627-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>This study explored Trajectories of Diagnoses (TDs) preceding a first diagnosis of autism in adulthood.</p><p><strong>Methods: </strong>This retrospective cohort study used health administrative data from Quebec, Canada, and included all adults with a first recorded diagnosis of autism between 2012 and 2017. A TDs was defined as a succession of medical records of psychiatric and/or neurodevelopmental conditions over time. These TDs were retrospectively analyzed from 2002 to 2017, using a state sequence analysis of diagnoses, in order: Autism, Intellectual or developmental disabilities (IDDs), Schizophrenia spectrum disorder (SSD), Bipolar Disorder (BD), Depressive Disorder (DD), Anxiety Disorder (AD), Attention-deficit/hyperactivity disorder (ADHD), and Other psychiatric and/or neurodevelopmental conditions.</p><p><strong>Results: </strong>The cohort included 2799 adults with a first recorded diagnosis of autism between 2012 and 2017. Several psychiatric and/or neurodevelopmental conditions were recorded since 2002, including AD (77.5%), DD (58.0%), SSD (49.4%), BD (48.3%), and IDDs (33.2%). Results revealed 5 distinct types of TDs. Types 1 (63.8%), 2 (17.6%) and 3 (6%) represented individuals in younger age groups with similar characteristics but with very different sequences of diagnoses, characterized by mixed diagnoses in type 1, SSD and AD in Type 2, and IDDs, DD, AD, and ADHD in type 3. Types 4 and 5 (9.0% and 3.6%), representing middle-aged/older groups, displayed distinctive TDs associated with high healthcare use, almost entirely associated with SSD (Type 4) and BD (Type 5).</p><p><strong>Conclusion: </strong>This study proposes a complementary examination of the multiple pathways to diagnosis experienced by adults, highlighting the need to address differential diagnosis and co-occurring psychiatric and neurodevelopmental conditions.</p>\",\"PeriodicalId\":16530,\"journal\":{\"name\":\"Journal of Neurodevelopmental Disorders\",\"volume\":\"17 1\",\"pages\":\"35\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12217371/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neurodevelopmental Disorders\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s11689-025-09627-3\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neurodevelopmental Disorders","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s11689-025-09627-3","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Background: This study explored Trajectories of Diagnoses (TDs) preceding a first diagnosis of autism in adulthood.
Methods: This retrospective cohort study used health administrative data from Quebec, Canada, and included all adults with a first recorded diagnosis of autism between 2012 and 2017. A TDs was defined as a succession of medical records of psychiatric and/or neurodevelopmental conditions over time. These TDs were retrospectively analyzed from 2002 to 2017, using a state sequence analysis of diagnoses, in order: Autism, Intellectual or developmental disabilities (IDDs), Schizophrenia spectrum disorder (SSD), Bipolar Disorder (BD), Depressive Disorder (DD), Anxiety Disorder (AD), Attention-deficit/hyperactivity disorder (ADHD), and Other psychiatric and/or neurodevelopmental conditions.
Results: The cohort included 2799 adults with a first recorded diagnosis of autism between 2012 and 2017. Several psychiatric and/or neurodevelopmental conditions were recorded since 2002, including AD (77.5%), DD (58.0%), SSD (49.4%), BD (48.3%), and IDDs (33.2%). Results revealed 5 distinct types of TDs. Types 1 (63.8%), 2 (17.6%) and 3 (6%) represented individuals in younger age groups with similar characteristics but with very different sequences of diagnoses, characterized by mixed diagnoses in type 1, SSD and AD in Type 2, and IDDs, DD, AD, and ADHD in type 3. Types 4 and 5 (9.0% and 3.6%), representing middle-aged/older groups, displayed distinctive TDs associated with high healthcare use, almost entirely associated with SSD (Type 4) and BD (Type 5).
Conclusion: This study proposes a complementary examination of the multiple pathways to diagnosis experienced by adults, highlighting the need to address differential diagnosis and co-occurring psychiatric and neurodevelopmental conditions.
期刊介绍:
Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.