title: Twenty-year follow-up of newborn screening for patients with muscular dystrophy.
abstract: BACKGROUND
  An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995.
  
  
  METHODS
  For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed.
  
  
  RESULTS
  All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety.
  
  
  CONCLUSIONS
  There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.
authors.affiliation: Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Chung
authors.affiliation: Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA.
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Smith
authors.affiliation: Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA.
authors.forename: Sarah C
authors.initials: SC
authors.lastname: Hughes
authors.affiliation: Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Niizawa
authors.affiliation: Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
authors.forename: Hoda Z
authors.initials: HZ
authors.lastname: Abdel-Hamid
authors.affiliation: Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina, USA.
authors.forename: Edwin W
authors.initials: EW
authors.lastname: Naylor
authors.affiliation: Department of Internal Medicine, School of Medicine, Wake Forest University, Winston-Salem, North Carolina, USA.
authors.forename: Timothy
authors.initials: T
authors.lastname: Hughes
authors.affiliation: Department of Neurology, University of Pittsburgh, S520 Biomedical Science Tower, 200 Lothrop Street, Pittsburgh, Pennsylvania, 15213, USA.|Neurology Service, Department of Veterans Affairs Medical Center, Pittsburgh, Pennsylvania, USA.
authors.forename: Paula R
authors.initials: PR
authors.lastname: Clemens
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods / Q000639:trends; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000523:psychology*; D015997:Neonatal Screening / Q000379:methods* / Q000639:trends*; D055815:Young Adult
keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; family planning; newborn screening; parental attitudes; patient attitudes; public health policy