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Article

Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries

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Parent Advocate & Consumer Representative, Saint Louis, MO 63021, USA
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Department of Chemistry, University of Washington, Seattle, WA 98195, USA
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Department of Biochemistry, University of Washington, Seattle, WA 98195, USA
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Hunter’s Hope Foundation, P.O. Box 643, Orchard Park, NY 14127, USA
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Parent Advocate & Consumer Representative, Chicago, IL 60649, USA
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Parent Advocate & Consumer Representative, Powell, TN 37849, USA
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Duke University PBMT and Cellular Therapy Program, Durham, NC 27705, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(3), 66; https://doi.org/10.3390/ijns6030066
Received: 27 May 2020 / Revised: 14 August 2020 / Accepted: 14 August 2020 / Published: 20 August 2020
(This article belongs to the Special Issue Newborn Screening and Follow-Up Diagnostic Testing for Krabbe Disease)
Newborn screening (NBS) for Krabbe disease (KD) is currently underway in eight states in the USA, and there is continued discussion of whether to implement KD NBS in additional states. Workgroup members sought to survey a large number of families affected by KD. Families in KD and leukodystrophy family registries were contacted to seek their participation in The Krabbe Newborn Screening—Family Perspective Survey. The 170 respondents are comprised of the following: 138 family members with a KD individual diagnosed after development of symptoms, 20 notified about KD via NBS, and 12 with a KD individual diagnosed through family history of KD. The key results are that all NBS families with an early-infantile KD family member elected to pursue hematopoietic stem cell transplantation therapy. Of the 170 responders, 165 supported the implementation of KD NBS in all states in the USA. View Full-Text
Keywords: newborn screening; lysosomal storage diseases; Krabbe disease; leukodystrophy; Globoid cell leukodystrophy newborn screening; lysosomal storage diseases; Krabbe disease; leukodystrophy; Globoid cell leukodystrophy
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MDPI and ACS Style

Blackwell, K.; Gelb, M.H.; Grantham, A.; Spencer, N.; Webb, C.; West, T. Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries. Int. J. Neonatal Screen. 2020, 6, 66. https://doi.org/10.3390/ijns6030066

AMA Style

Blackwell K, Gelb MH, Grantham A, Spencer N, Webb C, West T. Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries. International Journal of Neonatal Screening. 2020; 6(3):66. https://doi.org/10.3390/ijns6030066

Chicago/Turabian Style

Blackwell, Karlita, Michael H. Gelb, Anna Grantham, Natasha Spencer, Christin Webb, and Tara West. 2020. "Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries" International Journal of Neonatal Screening 6, no. 3: 66. https://doi.org/10.3390/ijns6030066

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