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Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

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Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening. / Mütze, Ulrike; Garbade, Sven F; Gramer, Gwendolyn; Lindner, Martin; Freisinger, Peter; Grünert, Sarah Catharina; Hennermann, Julia; Ensenauer, Regina; Thimm, Eva; Zirnbauer, Judith; Leichsenring, Michael; Gleich, Florian; Hörster, Friederike; Grohmann-Held, Karina; Boy, Nikolas; Fang-Hoffmann, Junmin; Burgard, Peter; Walter, Magdalena; Hoffmann, Georg F; Kölker, Stefan.

In: PEDIATRICS, Vol. 146, No. 5, 11.2020, p. e20200444.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Mütze, U, Garbade, SF, Gramer, G, Lindner, M, Freisinger, P, Grünert, SC, Hennermann, J, Ensenauer, R, Thimm, E, Zirnbauer, J, Leichsenring, M, Gleich, F, Hörster, F, Grohmann-Held, K, Boy, N, Fang-Hoffmann, J, Burgard, P, Walter, M, Hoffmann, GF & Kölker, S 2020, 'Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening', PEDIATRICS, vol. 146, no. 5, pp. e20200444. https://doi.org/10.1542/peds.2020-0444

APA

Mütze, U., Garbade, S. F., Gramer, G., Lindner, M., Freisinger, P., Grünert, S. C., Hennermann, J., Ensenauer, R., Thimm, E., Zirnbauer, J., Leichsenring, M., Gleich, F., Hörster, F., Grohmann-Held, K., Boy, N., Fang-Hoffmann, J., Burgard, P., Walter, M., Hoffmann, G. F., & Kölker, S. (2020). Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening. PEDIATRICS, 146(5), e20200444. https://doi.org/10.1542/peds.2020-0444

Vancouver

Mütze U, Garbade SF, Gramer G, Lindner M, Freisinger P, Grünert SC et al. Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening. PEDIATRICS. 2020 Nov;146(5):e20200444. https://doi.org/10.1542/peds.2020-0444

Bibtex

@article{c5b16aeedb0c4614994b2c242bf47e50,
title = "Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening",
abstract = "BACKGROUND: Although extended newborn screening (NBS) programs have been introduced more than 20 years ago, their impact on the long-term clinical outcome of individuals with inherited metabolic diseases (IMDs) is still rarely investigated.METHODS: We studied the clinical outcomes of individuals with IMDs identified by NBS between 1999 and 2016 in a prospective multicenter observational study.RESULTS: In total, 306 screened individuals with IMDs (115 with phenylketonuria and 191 with other IMDs with a lifelong risk for metabolic decompensation) were followed for a median time of 6.2 years. Although the risk for metabolic decompensation was disease-specific and NBS could not prevent decompensations in every individual at risk (n = 49), the majority did not develop permanent disease-specific signs (75.9%), showed normal development (95.6%) and normal cognitive outcome (87.7%; mean IQ: 100.4), and mostly attended regular kindergarten (95.2%) and primary school (95.2%). This demonstrates that not only individuals with phenylketonuria, serving as a benchmark, but also those with lifelong risk for metabolic decompensation had a favorable long-term outcome. High NBS process quality is the prerequisite of this favorable outcome. This is supported by 28 individuals presenting with first symptoms at a median age of 3.5 days before NBS results were available, by the absence of neonatal decompensations after the report of NBS results, and by the challenge of keeping relevant process parameters at a constantly high level.CONCLUSIONS: NBS for IMDs, although not completely preventing clinical presentations in all individuals, can be considered a highly successful program of secondary prevention.",
keywords = "Female, Humans, Infant, Newborn, Male, Metabolic Diseases/complications, Neonatal Screening, Phenylketonurias/diagnosis, Prospective Studies, Time Factors",
author = "Ulrike M{\"u}tze and Garbade, {Sven F} and Gwendolyn Gramer and Martin Lindner and Peter Freisinger and Gr{\"u}nert, {Sarah Catharina} and Julia Hennermann and Regina Ensenauer and Eva Thimm and Judith Zirnbauer and Michael Leichsenring and Florian Gleich and Friederike H{\"o}rster and Karina Grohmann-Held and Nikolas Boy and Junmin Fang-Hoffmann and Peter Burgard and Magdalena Walter and Hoffmann, {Georg F} and Stefan K{\"o}lker",
note = "Copyright {\textcopyright} 2020 by the American Academy of Pediatrics.",
year = "2020",
month = nov,
doi = "10.1542/peds.2020-0444",
language = "English",
volume = "146",
pages = "e20200444",
journal = "PEDIATRICS",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "5",

}

RIS

TY - JOUR

T1 - Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

AU - Mütze, Ulrike

AU - Garbade, Sven F

AU - Gramer, Gwendolyn

AU - Lindner, Martin

AU - Freisinger, Peter

AU - Grünert, Sarah Catharina

AU - Hennermann, Julia

AU - Ensenauer, Regina

AU - Thimm, Eva

AU - Zirnbauer, Judith

AU - Leichsenring, Michael

AU - Gleich, Florian

AU - Hörster, Friederike

AU - Grohmann-Held, Karina

AU - Boy, Nikolas

AU - Fang-Hoffmann, Junmin

AU - Burgard, Peter

AU - Walter, Magdalena

AU - Hoffmann, Georg F

AU - Kölker, Stefan

N1 - Copyright © 2020 by the American Academy of Pediatrics.

PY - 2020/11

Y1 - 2020/11

N2 - BACKGROUND: Although extended newborn screening (NBS) programs have been introduced more than 20 years ago, their impact on the long-term clinical outcome of individuals with inherited metabolic diseases (IMDs) is still rarely investigated.METHODS: We studied the clinical outcomes of individuals with IMDs identified by NBS between 1999 and 2016 in a prospective multicenter observational study.RESULTS: In total, 306 screened individuals with IMDs (115 with phenylketonuria and 191 with other IMDs with a lifelong risk for metabolic decompensation) were followed for a median time of 6.2 years. Although the risk for metabolic decompensation was disease-specific and NBS could not prevent decompensations in every individual at risk (n = 49), the majority did not develop permanent disease-specific signs (75.9%), showed normal development (95.6%) and normal cognitive outcome (87.7%; mean IQ: 100.4), and mostly attended regular kindergarten (95.2%) and primary school (95.2%). This demonstrates that not only individuals with phenylketonuria, serving as a benchmark, but also those with lifelong risk for metabolic decompensation had a favorable long-term outcome. High NBS process quality is the prerequisite of this favorable outcome. This is supported by 28 individuals presenting with first symptoms at a median age of 3.5 days before NBS results were available, by the absence of neonatal decompensations after the report of NBS results, and by the challenge of keeping relevant process parameters at a constantly high level.CONCLUSIONS: NBS for IMDs, although not completely preventing clinical presentations in all individuals, can be considered a highly successful program of secondary prevention.

AB - BACKGROUND: Although extended newborn screening (NBS) programs have been introduced more than 20 years ago, their impact on the long-term clinical outcome of individuals with inherited metabolic diseases (IMDs) is still rarely investigated.METHODS: We studied the clinical outcomes of individuals with IMDs identified by NBS between 1999 and 2016 in a prospective multicenter observational study.RESULTS: In total, 306 screened individuals with IMDs (115 with phenylketonuria and 191 with other IMDs with a lifelong risk for metabolic decompensation) were followed for a median time of 6.2 years. Although the risk for metabolic decompensation was disease-specific and NBS could not prevent decompensations in every individual at risk (n = 49), the majority did not develop permanent disease-specific signs (75.9%), showed normal development (95.6%) and normal cognitive outcome (87.7%; mean IQ: 100.4), and mostly attended regular kindergarten (95.2%) and primary school (95.2%). This demonstrates that not only individuals with phenylketonuria, serving as a benchmark, but also those with lifelong risk for metabolic decompensation had a favorable long-term outcome. High NBS process quality is the prerequisite of this favorable outcome. This is supported by 28 individuals presenting with first symptoms at a median age of 3.5 days before NBS results were available, by the absence of neonatal decompensations after the report of NBS results, and by the challenge of keeping relevant process parameters at a constantly high level.CONCLUSIONS: NBS for IMDs, although not completely preventing clinical presentations in all individuals, can be considered a highly successful program of secondary prevention.

KW - Female

KW - Humans

KW - Infant, Newborn

KW - Male

KW - Metabolic Diseases/complications

KW - Neonatal Screening

KW - Phenylketonurias/diagnosis

KW - Prospective Studies

KW - Time Factors

U2 - 10.1542/peds.2020-0444

DO - 10.1542/peds.2020-0444

M3 - SCORING: Journal article

C2 - 33051224

VL - 146

SP - e20200444

JO - PEDIATRICS

JF - PEDIATRICS

SN - 0031-4005

IS - 5

ER -