Congenital Disorders in Psychiatry: Screening & Management
Aug 12, 2024
auto_awesome
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.
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.
The Role of Genetic Testing
Genetic testing plays a vital role in diagnosing conditions associated with dysmorphology, like Fragile X and 22Q deletion syndrome, which can present with psychiatric manifestations. The American Academy of Pediatrics recommends that children with developmental challenges and autism undergo specific genetic tests, including microarrays, to identify underlying genetic anomalies. Unfortunately, many children miss out on these tests due to barriers like insurance coverage and lack of awareness among healthcare providers. By implementing routine genetic screenings, early intervention strategies can be better personalized, enhancing the support provided to affected families.
Overcoming Bias and Enhancing Care
Implicit biases surrounding genetic disorders can negatively impact both diagnosis and the expectations set for affected children. It is essential for healthcare providers to maintain high hopes and expectations for children with genetic conditions, as every child has the potential to thrive when given adequate support. Clinicians should adopt inclusive practices in their discussions with families, emphasizing the possibility of growth and development despite the challenges associated with these conditions. Additionally, utilizing resources like parent support groups and online platforms can empower families and enhance the overall quality of care provided.
Today, we are talking about dysmorphology and genetic disorders in psychiatry. Dr. Marilyn Jones joins us to help us identify and understand these conditions. Dr. Jones tells us about the prevalence and diagnostic considerations for these conditions, such as 22q and Fragile X. Join us as we talk about the importance of early identification, genetic testing, and strategies for supporting individuals and families affected by these conditions.
Joshua Feder, MD, and Mara Goverman, LCSW, have disclosed no relevant financial or other interests in any commercial companies pertaining to this educational activity.
Get the Snipd podcast app
Unlock the knowledge in podcasts with the podcast player of the future.
AI-powered podcast player
Listen to all your favourite podcasts with AI-powered features
Discover highlights
Listen to the best highlights from the podcasts you love and dive into the full episode
Save any moment
Hear something you like? Tap your headphones to save it with AI-generated key takeaways
Share & Export
Send highlights to Twitter, WhatsApp or export them to Notion, Readwise & more
AI-powered podcast player
Listen to all your favourite podcasts with AI-powered features
Discover highlights
Listen to the best highlights from the podcasts you love and dive into the full episode