Abstract
A growing multitude of known genetic diagnoses can result in presentation to child psychiatry. For numerous reasons, it is important to identify a genetic etiology in child psychiatry patients when it is present. Genetic diagnoses can guide treatment and enable access to specialized clinics and appropriate screening measures. They can also allow for genetic counseling for the patient and family. A better understanding of etiology with a named diagnosis can itself be of great value to many patients and families; prognostic information can be empowering. Since patients with genetic conditions may present to psychiatric care in diverse ways, child psychiatrists must decide who to refer for genetic evaluation. Here we create a table to provide a framework of concerning/notable history and exam features that a practicing child psychiatrist may encounter that should prompt one to consider whether a larger, unifying genetic diagnosis is at hand. We hope this framework will facilitate referral of child psychiatry patients to genetics so that more patients can benefit from an appropriate diagnosis.
Highlights
Benefits of diagnosing genetic conditions Identifying a genetic etiology in child psychiatry patients has many benefits [9]
It is important to identify a genetic etiology in child psychiatry patients when it is present, as it has implications for treatment and counseling
We present a table of red flags that a practicing child psychiatrist may identify, which could indicate an underlying genetic diagnosis
Summary
A growing multitude of known genetic diagnoses can result in presentation to child psychiatry. There are a large number of different genetic conditions that may lead to psychiatric presentation in a child. A genetic condition may have a typical psychiatric presentation and psychiatric symptoms may appear isolated. In such cases, presentation may be indistinguishable from that of a typical psychiatric patient whose disease is polygenic and multifactorial and genetic diagnosis is more difficult [8]. If child psychiatrists are aware of red flags signifying possible genetic condition, more patients can be appropriately diagnosed. This article addresses two questions: Why is it important to diagnose genetic conditions in child psychiatry patients? This article addresses two questions: Why is it important to diagnose genetic conditions in child psychiatry patients? What should prompt a child psychiatrist to request a genetic consult for a patient?
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