Women 's Illness History And Family History Essay

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PBL 2- FRAGILE X SYNDROME FUNMED PBL WRITE UP ROSHAN RAYMOND INTRODUCTION Fragile X is said to be “the most common cause of inherited intellectual disability”(CDC, 2016) and generally is more prevalent in men than it is in women. This paper will look at the genetic inheritance of Fragile X syndrome but also some general information regarding the genetic disorder. It will also include the methods by which genetic diseases are diagnosed and how genetic counselling is used to aid patients. LEARNING OBJECTIVES Explain process by which GP (general practitioner) obtained the diagnosis The starting point of all patient-GP consultations is by the GP understanding the array of symptoms that a patient possesses, giving them the reason to attend the general practice. Not only does the GP collect this information about the symptoms, but they also aim to understand the chronological order by which the patient has acquired these symptoms and furthermore, the severity of these symptoms. The patient’s illness history and family history is useful as in a test study from a group of “61 patients, for 76% the history led to the final diagnosis”(Peterson et al., 1992). Anders Baerheim proposes a two phase diagnostic process consisting of inferring the possible diagnoses from the patient (abductive phase) and then checking these assumptions with specific tests (deductive phase) (Baerheim, 2001). In this scenario, Baerheims model can be seen as the GP identifies the child’s
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