The Carlat Psychiatry Podcast
Congenital Disorders in Psychiatry: Screening & Management
Aug 12, 2024
Dr. Marilyn Jones, Clinical Service Chief at Rady Children's Hospital and a pediatrics expert at UCSD, dives deep into dysmorphology and genetic disorders in psychiatry. She discusses the prevalence and diagnosis of conditions like 22Q and Fragile X, emphasizing the critical role of early identification and genetic testing. The conversation also highlights the connection between congenital disorders and mental health challenges, alongside advancements in prenatal screening, while navigating the complex ethical landscape of genetic testing.
29:29
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Quick takeaways
- Early identification and genetic testing for conditions like 22Q and Fragile X are crucial for effective management and support in psychiatry.
- Healthcare providers must challenge implicit biases and maintain high expectations for children with genetic disorders to foster their growth potential.
Deep dives
Understanding Dysmorphology and Genetic Disorders
Dysmorphology and genetic disorders are significant considerations in psychiatry, especially regarding conditions like 22Q deletion syndrome and Fragile X. Approximately 3 to 4% of the general population has some form of congenital anomaly, which can lead to behavioral and psychiatric challenges as they grow. Early identification of these disorders is crucial, as many children may not have been previously diagnosed and could benefit from targeted interventions and support. Clinicians, particularly psychiatrists, should recognize the importance of thorough evaluations to uncover underlying genetic factors that may impact treatment outcomes.
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