title: Newborn screening for mucopolysaccharidoses: opinions of patients and their families.
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.
authors.affiliation: The Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: I M
authors.initials: IM
authors.lastname: Hayes
authors.forename: V
authors.initials: V
authors.lastname: Collins
authors.forename: M
authors.initials: M
authors.lastname: Sahhar
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: M B
authors.initials: MB
authors.lastname: Delatycki
mesh_terms: D001315:Australia / Q000453:epidemiology; D005190:Family; D006801:Humans; D007231:Infant, Newborn; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000523:psychology; D011795:Surveys and Questionnaires; D014481:United States / Q000453:epidemiology