Lana S. Seemed To Be A Healthy Newborn In Fact She Seemed To

Question

1lana S Seemed To Be A Healthy Newborn In Fact She Seemed To Be Hi 1. Lana S. seemed to be a healthy newborn. In fact, she seemed to be hitting developmental milestones ahead of schedule, trying to lift her head up at only 3 weeks. But then she rapidly lost skills. Her head flopped, she stopped trying to turn over, and her arms and legs became spastic. When she no longer made eye contact, her anxious parents took her to the pediatrician. She referred the family to a pediatric neurologist, who was puzzled. “She has all the symptoms of Canavan disease, but that can't be. You're not Jewish.” Explain how the neurologist was incorrect. The neurologist's assumption was based on a misconception relating to the genetic transmission of Canavan disease. Canavan disease is a rare autosomal recessive disorder primarily prevalent among Ashkenazi Jews, with carriers having a mutation in the ASPA gene affecting myelin production. However, the neurologist mistakenly linked the disease exclusively to Jewish ethnicity, ignoring that autosomal recessive disorders occur in any population where two carriers mate, regardless of ethnicity. The neurologist was incorrect because Canavan disease is not exclusive to Jewish populations; cases have been documented across various ethnic groups worldwide. The underlying mutation can occur sporadically or in populations through genetic drift, and the disease's presence in Lana’s case supports its occurrence outside the Jewish population. Therefore, the assumption that her ethnicity precluded the diagnosis was incorrect.

Dr. Jack HW Helper · Accepted Answer

Genetic disorders such as Canavan disease highlight the importance of understanding inheritance patterns and the distribution of genetic mutations across different populations. Canavan disease is classified as an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene—one from each parent—to manifest the disease. Carriers are typically asymptomatic but can pass the mutation to their offspring. This inheritance pattern explains why the disease can appear in diverse populations, not solely within specific ethnic groups like Ashkenazi Jews, who are known to have higher carrier frequencies (Shouman et al., 2020). The neurologist's misconception likely stemmed from ethnocentric biases and limited knowledge about the global prevalence of such genetic disorders. Historically, certain disorders have been associated predominantly with particular populations due to founder effects or genetic drift. For example, Tay-Sachs disease is more common in Ashkenazi Jews, but it also occurs in other Jewish communities and some non-Jewish populations (Davison et al., 2017). Similarly, the assumption that Lana's ethnicity protected her from Canavan disease illustrates a stereotyping bias that can hinder accurate diagnosis. It is critical for healthcare professionals to recognize that genetic mutations do not respect ethnic boundaries. The mutation causing Canavan disease can be present in any population, especially with the increasing admixture of populations worldwide. Advances in genetic testing now allow for more comprehensive screening across various ethnic groups, leading to earlier diagnosis and intervention (Liu et al., 2019). Thus, the neurologist's error highlights the necessity of a thorough genetic assessment rather than relying on ethnicity-based stereotypes. Furthermore, understanding the distribution of genetic disorders enhances genetic counseling and carrier screening programs, which help at-risk populations identify their carr

Lana S. Seemed To Be A Healthy Newborn In Fact She Seemed To

1lana S Seemed To Be A Healthy Newborn In Fact She Seemed To Be Hi

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1lana S Seemed To Be A Healthy Newborn In Fact She Seemed To Be Hi

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