Diagnosing Fragile X Syndrome Sample Clauses

Diagnosing Fragile X Syndrome. The quest for a fragile X diagnosis is often a frustrating and slow-moving process. Fragile X is unlike many other causes of intellectual disability in that there are no obvious signs of disability at birth. Parents usually believe they have a healthy, “normal” child; it is not until developmental milestones begin to be delayed around the twelfth month of life that parents start to have concerns. These concerns are often met with a “wait and see” response from the primary care provider to whom the parents first turn for answers, resulting in delays to diagnosis and subsequent interventions. Further delaying diagnosis is the fact that many of the physical features associated with fragile X are subtle or completely missing in infants and young children. In all, it takes an average of more than 18 months after parents first have concerns about their child for fragile X to be correctly diagnosed (Xxxxxx et al. 2003). The diagnosis of fragile X syndrome begins with the clinical evaluation of the patient for the signs and symptoms comprising the fragile X phenotype. Several diagnostic checklists have been developed to assist clinicians as they attempt to identify patients who likely have fragile X (Xxxxxx et al. 1991a; Xxxxxx et al. 1991b; Xxxxxxxx et al. 1991; Lachiewicz et al. 2000; Xxxx et al. 2000; Xxxxxx et al. 2009). While each different checklist, upon presentation, was intended to include only diagnostically informative findings, subsequent studies have called the diagnostic value of many of the checklist items into question. For instance, transverse palmar and plantar creases, while sometimes seen in fragile X patients, have not consistently shown a specific association with fragile X as compared to other causes of ID (Lachiewicz et al. 2000; Xxxxxx et al. 2009). The most predictive fragile X features are macroorchidism, large ears, hyperextensible joints, hyperactivity, poor eye contact, and a family history of intellectual disability (Lachiewicz et al. 2000; Xxxxxx et al. 2009). Despite such checklists for the clinical prediction of which ID patients have fragile X, the diagnosis is ultimately made at the molecular level, where a definitive answer can be found. As a result, diagnostic checklists are not often used in practice; rather, the current standard of care dictates that all patients who present with ID of unknown etiology should be tested for the typical fragile X mutation (Xxxxxx et al. 2008). According to the American College of Medical Genet...
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Related to Diagnosing Fragile X Syndrome

  • Diagnosis For a condition to be considered a covered illness or disorder, copies of laboratory tests results, X-rays, or any other report or result of clinical examinations on which the diagnosis was based, are required as part of the positive diagnosis by a physician.

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  • Communicable Disease Bodily injury" or "property damage" which arises out of the transmission of a communi- cable disease by an "insured";

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