Manifestation of Catatonia in an Adolescent With 22q11.2 Syndrome.

In this Letter to the Editor, we present a case of 22q11.2 deletion syndrome that was diagnosed in an adolescent girl after the onset of acute catatonic symptoms. We discuss the challenges in diagnosing catatonia in children and patients with comorbid neurodevelopmental disorders (NDDs), especially in the setting of recent traumatic exposure. We then review treatment strategies in this patient population and conclude with our recommendations regarding genetic workup in acute catatonia. The patient and guardians have reviewed this article and provided informed consent for its publication. In addition, the authors used the CARE guidelines and checklist in writing this report (Supplement 1, available online).

Leveraging electronic health records to inform genetic counseling practice surrounding psychiatric disorders.

Since nearly one-fifth of US adults have a psychiatric disorder, genetic counselors (GCs) will see many patients with these indications. However, GCs' reports of inadequate preparation and low confidence in providing care for patients with psychiatric disorders can limit their ability to meet patient's needs. How frequently psychiatric disorders present in GC sessions is currently unclear. Here, we used deidentified electronic health records (EHR) to estimate the prevalence of 16 psychiatric disorders. In 7,155 GC patients, 34% had a diagnostic code associated with a psychiatric disorder; 23% with anxiety/phobic disorders; 21% with mood disorder/depression; 5% with attention deficit hyperactivity disorder (ADHD); and 1% with psychotic disorders. Compared to 415,709 demographically matched controls, GC patients showed a significantly higher prevalence of psychiatric disorders (GC prevalence: 34%, matched prevalence: 30%, p-value < 0.0001) driven predominantly by anxiety disorder, major depressive disorder, generalized anxiety disorder, and ADHD. Within GC specialties (prenatal: n = 2,674, cancer: n = 1,474, pediatric: n = 465), only pediatric GC patients showed a significant increase in psychiatric disorder prevalence overall (pediatric GC prevalence: 28%, matched prevalence: 13%, p-value < 0.0001). However, significant evidence of increased prevalence existed for generalized anxiety disorder (prenatal GC prevalence 6.4%, matched prevalence: 4.9%, p-value < 0.0001), anxiety disorders (cancer GC prevalence: 26%, matched prevalence: 21%, p-value < 0.0001 and pediatric GC prevalence: 12%, matched prevalence: 5.5%), and ADHD (pediatric GC prevalence: 18%, matched prevalence: 7.9%, p-value < 0.0001). These results highlight the need for additional guidance around care for patients with psychiatric disorders and the value of EHR-based research in genetic counseling.