# MED13 syndrome and neuropsychiatric comorbidity: bridging the gap in diagnosis and treatment

- URL: https://alisanburak.com/en/wcp-2026-posterler/ev0319
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- Page title: MED13 syndrome and neuropsychiatric comorbidity: bridging the gap in diagnosis and treatment | WCP 2026 Summary

> A literature review encompassing twenty-two individuals found that developmental delay, intellectual disability, and autism spectrum disorder are common in MED…

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This page is an AI-assisted Turkish summary of the study presented at the 26th World Congress of Psychiatry. The study belongs to the presenting authors; please refer to the original source when citing it.

EV0319

E-PosterChild and AdolescentLiterature review and case report

# MED13 syndrome and neuropsychiatric comorbidity: bridging the gap in diagnosis and treatment

MED13 SYNDROME AND NEUROPSYCHIATRIC COMORBIDITY: BRIDGING THE GAP IN DIAGNOSIS AND MANAGEMENT

Presenter: Evan L. Tooker

Country: United States of America

Institution: Jefferson Einstein Philadelphia Hospital

A literature review encompassing twenty-two individuals found that developmental delay, intellectual disability, and autism spectrum disorder are common in MED13 syndrome, while other psychiatric comorbidities are likely underreported.

The aim is to review neuropsychiatric comorbidities in the rare neurodevelopmental disorder associated with variants in the MED13 gene in the 17q23 region and to emphasize the importance of early genetic testing and comprehensive neurodevelopmental assessment in patients with suspected intellectual and developmental disability (IDD). The methodology involved searching PubMed using the keywords "MED13 syndrome" and "MED13 chromosome 17q23.2"; 116 articles were identified, and 7 reports describing 21 individuals with detailed neurodevelopmental data were included. The addition of an unpublished clinical case brought the total to 22 individuals. Frequencies of neuropsychiatric diagnoses were calculated using SPSS. The findings (n=22) were presented as a bar chart, and numerical percentages were not provided in writing on the poster; the most frequently reported features were developmental delay and intellectual disability, followed by autism spectrum disorder, whereas attention-deficit/hyperactivity disorder (ADHD) and other psychiatric symptoms were reported markedly less frequently. For these latter two categories, most cases were classified as "not reported." The discussion notes that the high frequency of IDD and autism spectrum disorder is consistent with known genetic contributions to neurodevelopmental disorders, while the apparent lower frequency of ADHD, depression, anxiety, sleep disorders, and psychogenic nonepileptic seizures (PNES) reflects underreporting rather than an absence of symptoms. In conclusion, early screening for neuropsychiatric comorbidities may improve long-term outcomes, genetic testing plays a critical role in identifying the underlying cause of IDD and accompanying psychiatric features, and clinicians should maintain a high level of awareness given the possibility of unrecognized comorbidities. Limitations include the small number of reported cases due to the rarity of the syndrome and variability across studies in how psychiatric features are reported.

[View the original poster](https://cslide.ctimeetingtech.com/wcp26/attendee/eposter/file/1672)

How to cite this study

APA 7: Tooker, E. L., Cina, A. E., & Napalinga, K. (2026, September 23-26). Med13 syndrome and neuropsychiatric comorbidity: bridging the gap in diagnosis and management [E-poster]. 26th WPA World Congress of Psychiatry (WCP 2026), Stockholm, Sweden. https://cslide.ctimeetingtech.com/wcp26/attendee/eposter/file/1672

Vancouver: Tooker EL, Cina AE, Napalinga K. Med13 syndrome and neuropsychiatric comorbidity: bridging the gap in diagnosis and management [e-poster]. 26th WPA World Congress of Psychiatry (WCP 2026); 2026 Sep 23-26; Stockholm, Sweden. Available from: https://cslide.ctimeetingtech.com/wcp26/attendee/eposter/file/1672

Author names and title formatting were generated automatically from the congress system; please check them against the original poster before use.

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