Skip to main content

Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.

Publication ,  Journal Article
Grosse, SD; Lam, WKK; Wiggins, LD; Kemper, AR
Published in: Genetics in medicine : official journal of the American College of Medical Genetics
September 2017

The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to improved cognitive outcomes. Consistent evidence from peer-reviewed studies suggests that transplantation in the first year of life is associated with improved developmental quotient or intelligence quotient and continued cognitive growth, with earlier age of treatment associated with improved outcomes. However, available evidence suggests that cognitive functioning and attention can still lag behind unaffected age-matched children, leading to the need for special education services. Verbal and nonverbal cognitive abilities outcomes may be affected differently by HCT. With the recent addition of MPS I to the recommended uniform screening panel, future work is needed to evaluate the impact of earlier, presymptomatic detection and treatment initiation and other supportive therapies on cognitive outcomes.Genet Med advance online publication 26 January 2017.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Genetics in medicine : official journal of the American College of Medical Genetics

DOI

EISSN

1530-0366

ISSN

1098-3600

Publication Date

September 2017

Volume

19

Issue

9

Start / End Page

975 / 982

Related Subject Headings

  • Treatment Outcome
  • Severity of Illness Index
  • Phenotype
  • Mucopolysaccharidosis I
  • Male
  • Infant
  • Humans
  • Hematopoietic Stem Cell Transplantation
  • Genetics & Heredity
  • Genetic Predisposition to Disease
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Grosse, S. D., Lam, W. K. K., Wiggins, L. D., & Kemper, A. R. (2017). Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 19(9), 975–982. https://doi.org/10.1038/gim.2016.223
Grosse, Scott D., Wendy K. K. Lam, Lisa D. Wiggins, and Alex R. Kemper. “Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.Genetics in Medicine : Official Journal of the American College of Medical Genetics 19, no. 9 (September 2017): 975–82. https://doi.org/10.1038/gim.2016.223.
Grosse SD, Lam WKK, Wiggins LD, Kemper AR. Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1. Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Sep;19(9):975–82.
Grosse, Scott D., et al. “Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 19, no. 9, Sept. 2017, pp. 975–82. Epmc, doi:10.1038/gim.2016.223.
Grosse SD, Lam WKK, Wiggins LD, Kemper AR. Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1. Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Sep;19(9):975–982.

Published In

Genetics in medicine : official journal of the American College of Medical Genetics

DOI

EISSN

1530-0366

ISSN

1098-3600

Publication Date

September 2017

Volume

19

Issue

9

Start / End Page

975 / 982

Related Subject Headings

  • Treatment Outcome
  • Severity of Illness Index
  • Phenotype
  • Mucopolysaccharidosis I
  • Male
  • Infant
  • Humans
  • Hematopoietic Stem Cell Transplantation
  • Genetics & Heredity
  • Genetic Predisposition to Disease