Case Study: Relatively Late Diagnosis & Management of Rett Syndrome
b"Guest: Jeffrey L. Neul, MD, PhD
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Rett Syndrome (RTT) is an X-linked dominant genetic disease estimated to affect one in every 10,000 to 15,000 live female births across all racial and ethnic groups. It is the second most common cause of mental disability in females. RTT is associated with a spectrum of subtle symptoms, many of which manifest during specific ages during a child's development. Delayed diagnosis of RTT is very common. The inability to differentiate the subtle signs of RTT impedes a proper diagnosis and delays medical interventions desperately needed for positive patient outcomes. Recognizing the subtle symptoms and deploying the multidisciplinary healthcare team earlier is vital in improving patient quality of life and decreasing psychosocial stress. The desired outcome of this educational initiative is to help the multidisciplinary team understand the circumstances that impede an early diagnosis, improve the ability to recognize and diagnose the subtle signs and symptoms of RTT earlier, impart best practices in deploying the multidisciplinary team, and raise the awareness of current and emerging therapeutics used to manage RTT.
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