Newborn screening for mucopolysaccharidoses: opinions of patients and their families

doi:10.1111/j.1399-0004.2007.00783.x

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Wiley InterScience

Clinical Genetics

Volume 71 Issue 5, Pages 446 - 450

Published Online: 28 Mar 2007

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Short Report

Newborn screening for mucopolysaccharidoses: opinions of patients and their families

IM Hayes ^a,b , V Collins ^a,c , M Sahhar ^a,b , JE Wraith ^d MB Delatycki ^a,b,e

^a The Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, ^bGenetic Health Services Victoria, Royal Children's Hospital, and ^cPublic Health Genetics Unit, Murdoch Childrens Research Institute, Victoria, Australia, ^dWillink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK, and ^eDepartment of Paediatrics, University of Melbourne, Victoria, Australia

Correspondence to A/Prof Martin B
Delatycki, The Bruce Lefroy Centre for
Genetic Health Research, Murdoch
Childrens Research Institute,
10th Floor, Royal Children's Hospital,
Flemington Road, Parkville 3052,
Victoria, Australia.
Tel.: +61 3 8341 6284;
fax: +61 3 8341 6390;
e-mail: martin.delatycki@ghsv.org.au

KEYWORDS

lysosomal storage disorders • mucopolysaccharidoses • newborn screening • opinions • questionnaire

Hayes IM, Collins V, Sahhar M, Wraith JE, Delatycki MB. Newborn screening for mucopolysaccharidoses: opinions of patients and their families.
Clin Genet 2007: 71: 446–450. © Blackwell Munksgaard, 2007

ABSTRACT

We have conducted a study to assess the opinions of parents of individuals with mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for this condition, as testing is now technically possible. A questionnaire including a number of hypothetical clinical scenarios about NBS for MPS was distributed to members of MPS support groups from United States and Australia. Questionnaires were returned by 249 members of the US (40% response) and Australian (38% response) support groups. Eleven respondents were adults with MPS and the rest were parents of individuals with MPS. Eighty-six percent of respondents indicated that they would have wanted NBS for their own children. Ninety-seven percent supported the use of NBS for MPS in situations where early treatment that favorably impacts on disease outcome is available, 87% supported NBS when a severe form of MPS was diagnosed, but no treatment is available that improves the long-term outcome and 84% supported NBS for mild MPS where no disease-modifying treatment is available. The most common reason cited in support of NBS was that NBS could avoid a delay in diagnosis and the accompanying distress that delayed diagnosis created. This study has identified strong support for the introduction of NBS for MPS from this group. Psychosocial benefits of screening may outweigh potential harms.

Received 26 November 2006, revised and accepted for publication 24 January 2007

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1399-0004.2007.00783.x About DOI