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MNAAP Newsletter

Newborn Screening: New Disorders and the Changing Landscape

SheldonBerkowitzBy Sheldon Berkowitz, MD, FAAP, MNAAP Board of Directors; Maggie Dreon, MS, CGC, Amy Gaviglio, MS, CGC, Sondra Rosendahl, MS, CGC, Minnesota Department of Health Newborn Screening Program

Minnesota has a long history of being a leader in newborn screening, often being one of the first states to tackle a new initiative or add a new disorder. Over the past year, Minnesota’s Newborn Screening program has been working to bring three disorders to Minnesota’s panel: mucopolysaccharidosis type I (MPS I), Pompe disease, and X-linked adrenoleukodystophy (X-ALD).

Adding a new condition always brings with it new challenges, and these three disorders present several novel issues not previously encountered in newborn screening. Because these conditions have variable severity, age of onset, and treatment efficacy, the role of the primary care provider (PCP) in follow-up of positive screens will be increasingly vital and ongoing.

Take X-ALD, for example. There are three types of X-ALD and screening cannot clearly distinguish among them: childhood cerebral, adrenomyeloneuropathy, and Addison’s disease only. Furthermore, diagnostic testing is often unable to determine type until symptoms present. In X-ALD, treatment isn’t usually initiated until the onset of symptoms, which can take years to develop. Even individuals with the childhood cerebral type (the most severe and earliest onset type), may not show symptoms prior to four years of age. This means that PCPs will need to work with specialists to monitor their patients for symptom onset for longer than they have had to do for newborn screening conditions in the past. This later age of onset puts families—and PCPs—in a “sit and wait” situation. The risk is that families will become complacent with waiting, will stop following up, and then miss the key features of the disorder that show onset has occurred. Once onset occurs, the impact of the disease is irreversible, making the goal of catching symptoms early essential and the relationship between the family and PCP critical.

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