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DiGeorge Syndrome: Unveiling Diagnostic Challenges and Opportunities for Practitioners

DiGeorge Syndrome: Unveiling Diagnostic Challenges and Opportunities for Practitioners

Introduction

DiGeorge Syndrome, also known as 22q11.2 Deletion Syndrome, presents a myriad of diagnostic challenges, particularly in low-resource settings. The recent case study of a 38-year-old woman diagnosed with DiGeorge Syndrome highlights the complexities and implications of delayed diagnosis. For practitioners, understanding these challenges is crucial for improving diagnostic accuracy and patient outcomes, especially in diverse and resource-limited environments.

Understanding the Challenges

The case study underlines several key challenges in diagnosing DiGeorge Syndrome:

Implications of a Missed Diagnosis

A missed or delayed diagnosis of DiGeorge Syndrome can have significant implications for the patient and their family:

Opportunities for Practitioners

Practitioners can play a pivotal role in improving outcomes for patients with DiGeorge Syndrome by:

Conclusion

DiGeorge Syndrome remains an underdiagnosed condition with significant implications for affected individuals and their families. By understanding the challenges and leveraging available resources, practitioners can improve diagnostic accuracy and patient outcomes. This case study serves as a reminder of the importance of vigilance and innovation in addressing complex genetic disorders.

To read the original research paper, please follow this link: DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.


Citation: Kuenstner, W., Rapisuwon, S., & Shobab, L. (2024). DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis. JCEM Case Reports, Oxford University Press. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11267221/?report=classic
Marnee Brick, President, TinyEYE Therapy Services

Author's Note: Marnee Brick, TinyEYE President, and her team collaborate to create our blogs. They share their insights and expertise in the field of Speech-Language Pathology, Online Therapy Services and Academic Research.

Connect with Marnee on LinkedIn to stay updated on the latest in Speech-Language Pathology and Online Therapy Services.

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