title: Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
abstract: New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.
authors.affiliation: Departments of Neurology and Pediatrics, University of Rochester Medical Center, Rochester, New York.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kwon
authors.affiliation: Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania.
authors.forename: Hoda Z
authors.initials: HZ
authors.lastname: Abdel-Hamid
authors.affiliation: Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio.
authors.forename: Samiah A
authors.initials: SA
authors.lastname: Al-Zaidy
authors.affiliation: Department of Pediatrics, The Ohio State University and Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio.
authors.forename: Jerry R
authors.initials: JR
authors.lastname: Mendell
authors.affiliation: Parent Project Muscular Dystrophy, Headquarters, Hackensack, New Jersey.
authors.forename: Annie
authors.initials: A
authors.lastname: Kennedy
authors.affiliation: Parent Project Muscular Dystrophy, Middletown, Ohio.
authors.forename: Kathi
authors.initials: K
authors.lastname: Kinnett
authors.affiliation: Muscular Dystrophy Association, Tucson, Arizona.
authors.forename: Valerie A
authors.initials: VA
authors.lastname: Cwik
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
authors.forename: Natalie
authors.initials: N
authors.lastname: Street
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.
authors.forename: Julie
authors.initials: J
authors.lastname: Bolen
authors.affiliation: Department of Neurology, Stanford University, Stanford, California.
authors.forename: John W
authors.initials: JW
authors.lastname: Day
authors.affiliation: Departments of Neurology and Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Connolly
mesh_terms: D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis*; D015997:Neonatal Screening / Q000379:methods*
keywords: Duchenne muscular dystrophy; clinical; follow-up; long-term; management; newborn screening; public health