mucopolysaccharidosis type 1

Grosse, Scott D.; Lam, Wendy K.K.; Wiggins, Lisa D.; Kemper, Alex R.

i

mucopolysaccharidosis type 1

Supporting Files

Jan 26 2017
By Grosse, Scott D. ; Lam, Wendy K.K. ; Wiggins, Lisa D. ; ...

File Language:

English

Details

Alternative Title:

Genet Med
Personal Author:

Grosse, Scott D. ; Lam, Wendy K.K. ; Wiggins, Lisa D. ; Kemper, Alex R.
Description:

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.
Subjects:

Age Factors Article Child, Preschool Cognition Disease Management Dried Bloodspot Testing Enzyme Replacement Therapy Evidence-based Practice Female Genetic Association Studies Genetic Predisposition To Disease Hematopoietic Stem Cell Transplantation Humans Infant Male Mucopolysaccharidosis I Mucopolysaccharidosis Type I Phenotype Public Health Severity Of Illness Index Treatment Outcome
Source:

Genet Med. 19(9):975-982.
Pubmed ID:

28125077
Pubmed Central ID:

PMC5763496
Document Type:

Journal Article
Funding:

CC999999/ImCDC/Intramural CDC HHS/United States
Volume:

19
Issue:

9
Collection(s):

CDC Public Access
Main Document Checksum:

urn:sha256:cd93d511e46b18c1a90bbb8d02d4005829486c6b8c38ff40b00b96bfd2d77a59
Download URL:

https://stacks.cdc.gov/view/cdc/50859/cdc_50859_DS1.pdf
File Type:

[PDF - 327.67 KB ]

nihms931603.nxml

Download xml

File Language:

English

ON THIS PAGE

Details Supporting Files

CDC STACKS serves as an archival repository of CDC-published products including scientific findings, journal articles, guidelines, recommendations, or other public health information authored or co-authored by CDC or funded partners.

As a repository, CDC STACKS retains documents in their original published format to ensure public access to scientific information.