title: Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.
abstract: BACKGROUND
  Newborn screening (NBS) techniques have been developed for several lysosomal storage disorders (LSDs), including Mucopolysaccharidosis type I (MPS I). MPS I is an LSD with a wide phenotypic spectrum that ranges from the severe Hurler phenotype to the attenuated Scheie phenotype. To improve the ethical discussion about NBS for MPS I, we performed an interview study to explore the experiences of MPS I patients and their parents with the timings of their diagnoses.
  
  
  METHODS
  We used a qualitative research approach consisting of 17 interviews with the parents of patients with all MPS I phenotypes and with patients with attenuated forms of MPS I. The interviews were audio-recorded, transcribed and subsequently analyzed to identify the main themes identified by the participants.
  
  
  RESULTS
  Five important themes, focusing on the experienced disadvantages of delayed diagnosis and the advantages and disadvantages of a hypothetical earlier diagnosis, were identified in our group of participants: 1) delayed diagnosis causing parental frustration, 2) delayed diagnosis causing patient frustration, 3) early diagnosis enabling reproductive decision-making, 4) early diagnosis enabling focusing on the diagnosis, and 5) early diagnosis enabling timely initiation of treatment. There was a remarkable similarity in the experiences with timing of diagnosis between parents of patients with the severe and the attenuated forms.
  
  
  CONCLUSIONS
  This was the first study to explore the personal experiences of MPS I patients and their parents with diagnostic timing. Our study identified five important themes that are highly relevant to the ethical discussion on expanding NBS programs for MPS I.
authors.affiliation: Department of Pediatrics, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Minke H
authors.initials: MH
authors.lastname: de Ru
authors.forename: Machtelt G
authors.initials: MG
authors.lastname: Bouwman
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: Myra C B
authors.initials: MC
authors.lastname: van Zwieten
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D042241:Early Diagnosis; D005260:Female; D005817:Genetic Counseling / Q000941:ethics / Q000523:psychology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000473:pathology / Q000523:psychology*; D015997:Neonatal Screening / Q000941:ethics* / Q000458:organization & administration / Q000523:psychology; D010290:Parents / Q000523:psychology*; D010641:Phenotype; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D013997:Time Factors