Special Issue "Newborn Screening for Spinal Muscular Atrophy"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (30 April 2021).
Interests: Genetic diseases affecting infants and children; newborn screening; genetic epidemiology; Expanded genetic analysis and next-generation sequencing in newborn screening; cystic fibrosis (cf); Spinal Muscular Atrophy (SMA); Genetics of congenital malformations
Spinal Muscular Atrophy (SMA) is one of the most common genetic diseases affecting infants and children. SMA was nominated for addition to the newborn screening Recommended Uniform Screening Panel (RUSP) more than 10 years ago; however, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommended that prospective pilot studies be conducted by public health laboratories prior to formal evidence review. SMA was added to the RUSP in 2018, following demonstration of feasibility of high-throughput screening for the homozygous SMN1 exon 7 deletion via qPCR, and availability of an FDA-approved treatment. As of July 2020, several countries worldwide and 31 states in the US have implemented newborn screening for SMA. Many programs multiplex the SMA screen with a qPCR assay for Severe Combined Immunodeficiency (SCID). Some programs also conduct SMN2 gene copy number analysis for phenotype prediction internally, but testing is typically conducted after referral. Newborn screening programs have rapidly incorporated SMA screening, and at the same time, treatment options and algorithms continue to expand and evolve.
This special issue on Newborn Screening for Spinal Muscular Atrophy, to be published in the International Journal of Neonatal Screening, will focus on methods, algorithms and experiences following implementation of SMA newborn screening. Topics of interest include:
- SMA newborn screening methodology and algorithms
- Outcomes in infants identified via newborn screening
- SMA incidence differences by region, SMN2 copy number, race/ethnicity
- Challenges in identifying, following and treating infants with higher SMN2 copy number
Dr. Denise M. Kay
Prof. Dr. Anne Marie Comeau
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Newborn screening
- Spinal muscular atrophy (SMA)
- SMN1 gene
- SMN2 gene copy number