Reaching typical developmental milestones

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Reference no: EM133718326

Question

Mrs. Anderson brings her 9-month-old daughter, Emily, to the pediatric clinic for a routine check-up. During the examination, the nurse practitioner notices that Emily is not reaching typical developmental milestones. Mrs. Anderson mentions that she has noticed a loss of formerly acquired skills, such as the ability to track objects with her eyes and respond to her name. Upon further inquiry, Mrs. Anderson discloses that she and her husband are carriers of Tay-Sachs disease, a genetic disorder that runs in their Ashkenazi Jewish heritage. The nurse practitioner decides to conduct a thorough assessment, including a neurological examination. During the examination, Emily exhibits decreased muscle tone, poor head control, and a lack of response to visual and auditory stimuli. The nurse also observes a cherry-red spot on the retina upon fundoscopic examination. Given Emily's clinical presentation and the family history, the nurse suspects Tay-Sachs disease. Additional diagnostic procedures, such as enzyme assays, validate the presence of hexosaminidase A deficiency, thereby establishing the diagnosis of Tay-Sachs disease. The nurse discusses the prognosis and challenges associated with Tay-Sachs with Mrs. Anderson, providing emotional support and referring the family to a genetic counselor for further guidance. Over subsequent visits, the nurse collaborates with the.

Reference no: EM133718326

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