3.43 MED13 Syndrome: A Literature Review of a Rare Genetic Mutation and Exploration of Associated Psychiatric Features

Document Type

Abstract

Publication Date

10-1-2025

Abstract

Objectives: The objectives of this study were to: 1) examine the prevalence of neurodevelopmental and psychiatric manifestations in MED13 syndrome, emphasizing their clinical significance; and 2) address the importance of comprehensive neurodevelopmental and genetic testing in patients with suspected intellectual and developmental disabilities (IDDs). Methods: A PubMed search for reports including keywords such as “MED13 syndrome” and “MED13 chromosome 17q23.2” produced a total of 116 articles. Results: were narrowed to include 7 reports detailing the neurodevelopmental characteristics of 21 individuals with MED13 syndrome. One additional individual was examined based on a clinical case report finding in an article that is pending publication submission. Data frequencies were calculated using SPSS statistical software. Results: Of the 22 MED13 syndrome cases reviewed, the prevalence of neuropsychiatric diagnoses was stratified as follows: IDD (72.7% present, 4.5% absent, 22.7% not reported/assessed), ASD (45% present, 55% not reported/assessed), and ADHD (18.2% present, 81.8% not reported/assessed). Only 4 of the 22 cases reported other unspecified psychiatric symptoms, including sleep disturbance or MDD. It is well known that in the general population, there is a relatively high co-occurrence of IDD and ASD, with these diagnoses often linked to genetic mutations. Many adolescents with IDD also have comorbid psychiatric disorders. One study highlights the benefits of receiving a genetic diagnosis, including improved monitoring of comorbid conditions, a stronger sense of identity, and a greater understanding of their condition. Conclusions: Early screening and intervention for neuropsychiatric comorbidities in MED13 syndrome and other underlying genetic disorders may improve patient outcomes, and clinicians should maintain a high index of suspicion. This review suggests that these conditions may be undertested. Similarly, with many IDDs linked to genetic causes, genetic testing can aid in identifying comorbid conditions and empowering patients and caretakers. Neuropsychiatric manifestations in MED13 syndrome remain poorly characterized. A key limitation of this study is the small number of reported cases due to how rare this disorder is. Future research should focus on their prevalence, clinical significance, and treatment strategies. ND, GS, SP

Publication Title

Journal of the American Academy of Child and Adolescent Psychiatry

Volume

64

Issue

10 Supplement

First Page

S235

Last Page

S235

Comments

Journal of the American Academy of Child & Adolescent Psychiatry Conference held 2025-10-20 to 2025-10-25 in Chicago, IL, USA.

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