The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.

Barbara K Burton
Barbara K Burton
Children's Memorial Hospital
United States
Priya S Kishnani
Priya S Kishnani
Duke University Medical Center
United States

Pediatrics 2017 Jul;140(Suppl 1):S14-S23

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots. When GAA levels are below established cutoff values, then second-tier testing is required to confirm or refute a 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. Mutation analysis of the gene is essential for confirming the biochemical diagnosis of Pompe disease. For NBS laboratories that do not have DNA sequencing capabilities, the responsibility of obtaining sequencing of the gene will fall on the referral center. The recommendations for confirmatory testing and the initial evaluation are intended for a broad global audience. However, the Working Group recognizes that clinical practices, standards of care, and resource capabilities vary not only regionally, but also by testing centers. Individual patient needs and health status as well as local/regional insurance reimbursement programs and regulations also must be considered.

Download full-text PDF

Source Listing

Still can't find the full text of the article?

Sign up to send a request to the authors directly.
July 2017
19 Reads

Publication Analysis

Top Keywords

pompe disease
diagnosis pompe
newborn screening
nbs pompe
working group
confirmatory testing
recommendations confirmatory
disease newborn
dna sequencing
initial evaluation
disease disease/not
affected/carrier mutation
disease/not affected/carrier
late-onset pompe
diagnoses classic
classic infantile-onset
infantile-onset pompe

Similar Publications

Blood Loss Reduction with Tranexamic Acid and a Bipolar Sealer in Direct Anterior Total Hip Arthroplasty.

Am J Orthop (Belle Mead NJ) 2018 May;47(5)

Baptist Health South Florida, Miami, FL.

The purpose of this study is to determine the effectiveness of tranexamic acid (TXA) alone and in conjunction with a bipolar sealer in reducing postoperative transfusions during direct anterior (DA) total hip arthroplasty (THA).In this retrospective review, we analyzed 173 consecutive patients who underwent primary unilateral DA THA performed by 2 surgeons during a 1-year period. Subjects were divided into 3 groups based on TXA use: 63 patients received TXA alone (TXA group), 49 patients received TXA in addition to a bipolar sealer (TXA + bipolar sealer group), and 61 patients received neither TXA nor a bipolar sealer (control group). Read More

View Article
May 2018
12 Reads

Outcome of paediatric cataract surgery in Northwest Ethiopia: a retrospective case series.

Br J Ophthalmol 2018 Apr 18. Epub 2018 Apr 18.

Orbis International-Ethiopia, Addis Ababa, Ethiopia.

Aim: To assess visual acuity outcomes, and factors associated with the outcome, of paediatric cataract surgery at the Child Eye Health Tertiary Facility, Gondar, Northwest Ethiopia.

Methods: The medical records of children aged below 16 years who underwent cataract surgery between September 2010 and August 2014 were reviewed for preoperative, surgical and postoperative data.

Results: One hundred and seventy-six eyes of 142 children (mean age 7. Read More

View Article
April 2018
8 Reads
2.98 Impact Factor

An assessment of healthcare professionals' knowledge about and attitude towards influenza vaccination in Freetown Sierra Leone: a cross-sectional study.

BMC Public Health 2017 09 5;17(1):692. Epub 2017 Sep 5.

School of Pharmacy, Monash University Malaysia, 45700, Bandar Sunway, Selangor, Malaysia.

Background: Vaccinating healthcare professionals against influenza is considered an effective infection control measure. However, there is a low uptake of influenza vaccine among healthcare professionals around the globe. Currently, it is unknown whether healthcare professionals in Sierra Leone are aware of, and have been vaccinated against influenza. Read More

View Article
September 2017
28 Reads
2 PubMed Central Citations(source)
2.26 Impact Factor

A genetic female mouse model with congenital genitourinary anomalies and adult stages of urinary incontinence.

Neurourol Urodyn 2017 Nov 28;36(8):1981-1987. Epub 2017 Feb 28.

University Hospitals Cleveland Medical Center, Urology Institute, Cleveland, Ohio.

Aims: To characterize the urinary incontinence observed in adult Gli2 ; Gli3 female mice and identify the defects underlying the condition.

Methods: Gli2 and Gli3 mice were crossed to generate: wild-type, mutant Gli2 (Gli2 ), mutant Gli3 (Gli3 ), and double mutant (Gli2 ; Gli3 ) female mice, verified via Polymerase Chain Reactions. Bladder functional studies including cystometrogram (CMG), leak point pressure (LPP), and voiding testing were performed on adult female mice. Read More

View Article
November 2017
4 Reads
2.87 Impact Factor

An intermediate term benefits and complications of gamma knife surgery in management of glomus jugulare tumor.

World J Surg Oncol 2016 Feb 15;14(1):36. Epub 2016 Feb 15.

Department of Neurosurgery and Gamma Knife center, International Medical Center (IMC), Cairo, Egypt.

Glomus tumors are rare skull base slow-growing, hypervascular neoplasms that frequently involve critical neurovascular structures, and delay in diagnosis is frequent. Surgical removal is rarely radical and is usually associated with morbidity or mortality. Gamma knife surgery (GKS) has gained an increasing dependable role in the management of glomus jugulare tumors, with high rate of tumor growth control, preserving or improving clinical status and with limited complications. Read More

View Article
February 2016
23 Reads
2 PubMed Central Citations(source)
1.20 Impact Factor