What's New with Newborn Screening: Newborn Screening is the Process of Testing and Screening Newborns Shortly After Birth for Certain, Potentially Dangerous, Conditions and/Or Impairments--Conditions That Include Everything from Inborn Errors of Metabolism and Other Genetic Disorders to Hearing Impairment (Newborn Screening)
The Exceptional Parent 2008, August, 38, 8
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- 2,99 €
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- 2,99 €
Description de l’éditeur
Absent detection through newborn screening, many conditions, like inborn errors of metabolism, do not present until a time period after birth, with some conditions not being diagnosed until even years later. By way of definition, inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy and which are usually caused by defects in specific proteins, or enzymes, that aid in the break down, or metabolizing, of different foods. Some infants don't present symptoms of an inborn error of metabolism until the baby experiences his/her first feeding fast, going off food perhaps as a result of a cold virus or other minor ailment. The change in metabolism, caused by the fast, initiates the manifestation of the inborn error of metabolism. Thus, early detection through newborn screening is paramount, often allowing the opportunity for intervention, which can lessen or even eliminate the effects of the disorder. As an example, some inborn errors of metabolism can result in mental retardation to child who was otherwise born with no cognitive delays. If these metabolic errors are detected at birth, through screening of the small blood sample taken from a baby's heel, the child, and his or her family, can be saved from potentially life-altering consequences. Newborn screening for impairments like hearing loss can also be highly beneficial as early detection can lead to intervention with far reaching effects. Undetected hearing loss can greatly alter a child's ability to move through other developmental stages like the advancement of speech and language skills.