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. N..