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Cited by 219Autism Spectrum Disorder ResearchChild Nutrition and Feeding IssuesPsychology and Mental Health

Missed diagnoses and misdiagnoses of adults with autism spectrum disorder

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Fusar-Poli, Laura, Brondino, Natascia, Politi, Pierluigi, Aguglia, Eugenio·2022·European Archives of Psychiatry and Clinical Neuroscience
DOI 10.1007/s00406-020-01189-wPMC PMC8866369
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Abstract

Autism spectrum disorder (ASD) is a group of life-long neurodevelopmental disorders affecting 1.5% of the general population. The present study aimed to evaluate the psychiatric history of a group of adults who received the first diagnosis of ASD in two Italian university centers. Diagnoses of ASD were confirmed by a team of psychiatrists with wide expertise in the field, after the administration of standardized tools (i.e., ADOS-2, ADI-R). The sample comprised 161 participants, of which 114 (79.5%) were males. The median age of diagnosis was 23 years (range 18-55), with a median IQ of 100 (range 30-145). The first evaluation by a mental health professional was performed at a median age of 13 years, with a gap of 11 years between the first evaluation and the diagnosis of ASD. 33.5% of participants had never received a psychiatric diagnosis, while the rest of the sample had received one or more diagnoses different from ASD. The most common past diagnoses were intellectual disability, psychoses, personality disorders, and depression. Sex differences were detected in the age of diagnosis and ADOS-2 scores. Our results provide important information for both child and adult psychiatrists. Given the prevalence of autism and the high rates of co-occurrent psychiatric conditions, it is important for clinicians to consider ASD in the differential diagnostic process.

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  • The participant base for this study was largely female, but the authors considered it justified in relation to both the small sample size and the largely male focus of most previous work on ADHD, autism, and neurodivergence.

    “The participant base for this study was largely female, however the authors considered it justified in relation to both the small sample size of this work and the largely male focus of most previous work on ADHD, autism, and neurodivergence [34, 36, 44, 87].”

    From Burnout by Design: How Digital Systems Overburden Neurodivergent Students in Higher Education (2025) · cites this paper as [36]

    The Introduction (page unavailable) says autism diagnostic tools were standardized on male samples, and the Discussion, ‘Sex differences’ (page unavailable), says tests such as the ADOS-2 were developed around a typical male autism phenotype. This supports a male focus in autism assessment, but the paper does not establish that most previous work across ADHD, autism, and neurodivergence focused on males. Its own sample was mainly male, and its small-sample discussion does not justify the citing study’s largely female participant base. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • Diagnostic error research has primarily focused on capturing disease-related factors, including laboratory results, imaging, and treatments, which are easier to extract from medical records.

    “Diagnostic error research has primarily focused on capturing disease-related factors [18,19,20,21], including laboratory results, imaging, and treatments, which are easier to extract from medical records.”

    From Toward Safer Diagnoses: A SEIPS-Based Narrative Review of Diagnostic Errors (2026) · cites this paper as [20]

    The Procedures section describes a retrospective review of clinical charts for adults diagnosed with ASD, while the Discussion addresses difficulties in psychiatric assessment. Neither addresses whether diagnostic-error research primarily captures disease-related factors or whether laboratory results, imaging, and treatments are easier to extract from medical records. Searches for those terms and for the proposed research focus found no supporting passage; page numbers were unavailable. (LLM, conf=0.78)

    Experimental — accuracy not yet measured

  • Scheduling appointments poses significant challenges in primary care and postpones critical diagnoses.

    “Scheduling appointments poses significant challenges in primary care and postpones critical diagnoses.”

    From Toward Safer Diagnoses: A SEIPS-Based Narrative Review of Diagnostic Errors (2026) · cites this paper as [20]

    The Discussion (General findings) considers possible reasons for late autism diagnoses, including limited time for psychiatric assessment. Neither that passage nor the Clinical implications section addresses difficulty scheduling appointments in primary care or says it postpones diagnoses. Searches for appointment scheduling and primary-care access found no supporting passage. (LLM, conf=0.76)

    Experimental — accuracy not yet measured

  • Given the mismatch between available time slots, clinician schedules, and patient needs, clinics often find it challenging to meet patients' expectations, especially during busy periods.

    “Given the mismatch between available time slots, clinician schedules, and patient needs, clinics often find it challenging to meet patients’ expectations, especially during busy periods [20,276,277].”

    From Toward Safer Diagnoses: A SEIPS-Based Narrative Review of Diagnostic Errors (2026) · cites this paper as [20]

    The Discussion (General findings; page unavailable) suggests that limited time for psychiatric assessment may contribute to missed ASD diagnoses. It does not address appointment availability, clinician schedules, patient expectations, or busy periods; searches for scheduling and wait-time terms found no passage supporting that claim. (LLM, conf=0.76)

    Experimental — accuracy not yet measured

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Cites

1 retracted

Flagged first, then by citations

Research works printed but not linked: 31

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Cited by

Sorted by citations

Authors
Fusar-Poli, L., Brondino, N., Politi, P., & Aguglia, E.
Affiliations
  • University of Pavia (IT)
  • University of Catania (IT)
ORCID
Venue
European Archives of Psychiatry and Clinical Neuroscience
Publisher
Springer Science and Business Media LLC
Published
2020-09-06
Volume
272
Issue
2
Pages
187-198
ISSN
  • 0003-9373 (ISSN-L)
  • 0940-1334
  • 1433-8491
DOI
10.1007/s00406-020-01189-w
PMC
PMC8866369
OpenAlex
W3083547431
Cited by
219
References
25
Citations by year
2026: 46 · 2025: 40 · 2024: 33 · 2023: 41 · 2022: 33 · 2021: 22 · 2020: 4
FWCI
13.44
Type
journal article
Language
en
Open access
Licence
Locations
  • European Archives of Psychiatry and Clinical Neuroscience (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • Università di Catania
  • Università degli Studi di Pavia
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
  • Social Sciences › Psychology › Clinical Psychology › Psychology and Mental Health
Keywords
autism spectrum disorder, autistic adults, misdiagnosis, missed diagnosis, psychiatric comorbidity, intellectual disability, psychosis, personality disorders, depression, differential diagnosis, age at diagnosis, sex differences, ADOS-2, ADI-R
MeSH terms
Autism Spectrum Disorder, Missed Diagnosis, Adolescent, Adult, Female, Humans, Male, Middle Aged, Young Adult

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