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Hunter Syndrome: Is It Time to Make It Part of Newborn Screening?
Rachel Joseph1, Emily B DiCesare, Amy Miller
1West Chester University, West Chester, Pennsylvania (Dr Joseph and Ms DiCesare); and Nemours/A. I. duPont Hospital for Children, Wilmington, Delaware (Ms Miller).
Background:
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a lysosomal storage disease that affects the breakdown of sugar in the body. Research has made it possible to reveal the cause of the disease, thus helping diagnose and treating this rare disorder. Enzyme replacement therapy will help children live longer and healthier lives.
Purpose:
The purpose of this literature review is to explore the existing knowledge on MPS II and to inform the nursing community about the prevalence of MPS II and examine why it is important to offer screening to parents of a newborn or child.
Search Strategy:
CINAHL, PubMed, Cochrane, and Google Scholar were searched using the key words to find publications in English on MPS II during 2009 to 2018.
Findings:
Early detection is key for successful management of MPS II. Early initiation of enzyme replacement therapy will enhance the health of children. Support groups advocate for services for the children and their families.
Implications For Practice:
Earlier initiation of treatment leads to better outcomes, and healthcare providers should advocate for including MPS II in newborn screening. Families should be offered genetic counseling and support services.
Implications For Research:
More research is essential to identify the long-term effects on families and the effect of enzyme replacement therapy on children with MPS II.
Conclusion:
The birth of a child with the rare disorder such as MPS II will change the lives of families forever. Early identification and treatment can slow down decline in health and improve quality of life of children and their families.
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