The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient’s health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with ...
Source: PEDIATRICS - June 30, 2017 Category: Pediatrics Authors: Atherton, A. M., Day-Salvatore, D., on behalf of the Pompe Disease Newborn Screening Working Group Tags: Supplement Article Source Type: research
Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum
After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with alglucosidase alfa must be determined. In classic infantile-onset Pompe disease, ERT should start as soon as possible. Once started, regular, routine follow-up is necessary to monitor for treatment effects, disease progression, and adverse effects. Decision-making for when or if to start ERT in late-onset Pompe disease (LOPD) is more challenging because patients typically have no measurable signs or symptoms or predictable time of symptom onset at NBS....
Source: PEDIATRICS - June 30, 2017 Category: Pediatrics Authors: Kronn, D. F., Day-Salvatore, D., Hwu, W.-L., Jones, S. A., Nakamura, K., Okuyama, T., Swoboda, K. J., Kishnani, P. S., on behalf of the Pompe Disease Newborn Screening Working Group Tags: Supplement Article Source Type: research
The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease
This article in the "Newborn Screening, Diagnosis, and Treatment for Pompe Disease" guidance supplement provides recommendations for confirmatory testing after a positive NBS result indicative of Pompe disease is obtained. Two algorithms were developed by the Pompe Disease Newborn Screening Working Group, a group of international experts on both NBS and Pompe disease, based on whether DNA sequencing is performed as part of the screening method. Using the recommendations in either algorithm will lead to 1 of 3 diagnoses: classic infantile-onset Pompe disease, late-onset Pompe disease, or no disease/not affected/carrier. Mut...
Source: PEDIATRICS - June 30, 2017 Category: Pediatrics Authors: Burton, B. K., Kronn, D. F., Hwu, W.-L., Kishnani, P. S., on behalf of the Pompe Disease Newborn Screening Working Group Tags: Supplement Article Source Type: research
Newborn Screening for Pompe Disease
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good candidate for NBS. Because decisions regarding which diseases should be included in NBS panels are made regionally and locally, programs and efforts for NBS for Pompe disease have been inconsistent both in the United States and global...
Source: PEDIATRICS - June 30, 2017 Category: Pediatrics Authors: Bodamer, O. A., Scott, C. R., Giugliani, R., on behalf of the Pompe Disease Newborn Screening Working Group Tags: Supplement Article Source Type: research
Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement
(Source: PEDIATRICS)
Source: PEDIATRICS - June 30, 2017 Category: Pediatrics Authors: Kishnani, P. S., Hwu, W.-L., on behalf of the Pompe Disease Newborn Screening Working Group Tags: Supplement Article Source Type: research
