Literature DB >> 34202531

Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021.

Kshea Hale1, Jelili Ojodu1, Sikha Singh1.   

Abstract

Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status.

Entities:  

Keywords:  new disorders implementation; newborn screening; spinal muscular atrophy

Year:  2021        PMID: 34202531     DOI: 10.3390/ijns7030033

Source DB:  PubMed          Journal:  Int J Neonatal Screen        ISSN: 2409-515X


  4 in total

1.  Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.

Authors:  Bo Hoon Lee; Stella Deng; Claudia A Chiriboga; Denise M Kay; Obehioya Irumudomon; Emma Laureta; Leslie Delfiner; Simona O Treidler; Yaacov Anziska; Ai Sakonju; Chelsea Kois; Osman Farooq; Kristin Engelstad; Alexandra Laurenzano; Katherine Hogan; Michele Caggana; Carlos A Saavedra-Matiz; Colleen F Stevens; Emma Ciafaloni
Journal:  Neurology       Date:  2022-07-14       Impact factor: 11.800

Review 2.  Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs.

Authors:  Maja Brandt; Lene Johannsen; Laura Inhestern; Corinna Bergelt
Journal:  Orphanet J Rare Dis       Date:  2022-07-19       Impact factor: 4.303

3.  Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.

Authors:  Kevin A Strauss; Michelle A Farrar; Francesco Muntoni; Kayoko Saito; Jerry R Mendell; Laurent Servais; Hugh J McMillan; Richard S Finkel; Kathryn J Swoboda; Jennifer M Kwon; Craig M Zaidman; Claudia A Chiriboga; Susan T Iannaccone; Jena M Krueger; Julie A Parsons; Perry B Shieh; Sarah Kavanagh; Melissa Wigderson; Sitra Tauscher-Wisniewski; Bryan E McGill; Thomas A Macek
Journal:  Nat Med       Date:  2022-06-17       Impact factor: 87.241

4.  Newborn screening for spinal muscular atrophy in Japan: One year of experience.

Authors:  Takaaki Sawada; Jun Kido; Keishin Sugawara; Shinichiro Yoshida; Shiro Ozasa; Keiko Nomura; Kentaro Okada; Natsumi Fujiyama; Kimitoshi Nakamura
Journal:  Mol Genet Metab Rep       Date:  2022-08-02
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.