TY - JOUR
T1 - Disparities in late and lost
T2 - Pediatricians' role in following Pompe disease identified by newborn screening
AU - Pillai, Nishitha R.
AU - Fabie, Noelle Andrea V.
AU - Kaye, Tory V.
AU - Rosendahl, Sondra D.
AU - Ahmed, Alia
AU - Hietala, Amy D.
AU - Jorgenson, Alissa B.
AU - Lanpher, Brendan C.
AU - Whitley, Chester B.
N1 - Publisher Copyright:
© 2023 Elsevier Inc.
PY - 2023/9/1
Y1 - 2023/9/1
N2 - Background and objectives: Pompe disease (PD) results from a deficiency of lysosomal acid α-glucosidase that leads to glycogen accumulation in lysosomes in multiple tissues. There are two phenotypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The objective was to evaluate the diagnostic and follow-up outcomes of children identified with PD through newborn screening (NBS) in the state of Minnesota over a 4-year period. Methods: This study is a retrospective analysis of infants born in Minnesota between August 1, 2017, and July 31, 2021, by the Minnesota Department of Health NBS Program for Pompe disease. Newborn screening and clinical diagnostic data are summarized for all newborns with positive newborn screens for Pompe disease. Results: Children with IOPD had abnormal biomarkers necessitating immediate initiation of treatment. Children with LOPD are asymptomatic to date (1.25–4.58 years) with normal biomarkers including creatine kinase, urine glucotetrasaccharides, liver function tests, and echocardiogram. The estimated birth prevalence of PD is 1:15,160. The positive predictive value for PD was 81% with a false positive rate of 1.9 per 10 positive screens. 32% of the children with LOPD were lost to follow up among which 66% were from minority ethnic groups. Conclusion: This emphasizes the disparity in access to health care among specific demographics, as well as the importance of a primary care provider's early involvement in educating these families. To accomplish this, and ensure equality in follow-up care, the Minnesota Pompe Disease Consortium has been formed.
AB - Background and objectives: Pompe disease (PD) results from a deficiency of lysosomal acid α-glucosidase that leads to glycogen accumulation in lysosomes in multiple tissues. There are two phenotypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The objective was to evaluate the diagnostic and follow-up outcomes of children identified with PD through newborn screening (NBS) in the state of Minnesota over a 4-year period. Methods: This study is a retrospective analysis of infants born in Minnesota between August 1, 2017, and July 31, 2021, by the Minnesota Department of Health NBS Program for Pompe disease. Newborn screening and clinical diagnostic data are summarized for all newborns with positive newborn screens for Pompe disease. Results: Children with IOPD had abnormal biomarkers necessitating immediate initiation of treatment. Children with LOPD are asymptomatic to date (1.25–4.58 years) with normal biomarkers including creatine kinase, urine glucotetrasaccharides, liver function tests, and echocardiogram. The estimated birth prevalence of PD is 1:15,160. The positive predictive value for PD was 81% with a false positive rate of 1.9 per 10 positive screens. 32% of the children with LOPD were lost to follow up among which 66% were from minority ethnic groups. Conclusion: This emphasizes the disparity in access to health care among specific demographics, as well as the importance of a primary care provider's early involvement in educating these families. To accomplish this, and ensure equality in follow-up care, the Minnesota Pompe Disease Consortium has been formed.
KW - Clinical outcome
KW - IOPD
KW - LOPD
KW - Newborn screening
KW - Pompe disease
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U2 - 10.1016/j.ymgme.2023.107633
DO - 10.1016/j.ymgme.2023.107633
M3 - Article
C2 - 37414610
AN - SCOPUS:85164369121
SN - 1096-7192
VL - 140
JO - Molecular genetics and metabolism
JF - Molecular genetics and metabolism
IS - 1-2
M1 - 107633
ER -