ReviewJournal of genetic counseling2016
A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes.
Review in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Setting multidisciplinary intervention goals for spinal muscular atrophy patients utilizing the international classification of functioning, disability, and health: a pilot study in a small sample sizes.Acta neurologica Belgica · 2025Article
- Prenatal genetic counseling challenges with indeterminate SMA results.Journal of genetic counseling · 2025Article
- Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China.Biochemical genetics · 2025Article
- Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.Journal of community genetics · 2024Article
- Safety and Efficacy of Nusinersen and Risdiplam for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.Brain sciences · 2023Review
- Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy.Therapeutic advances in neurological disorders · 2023Article
- Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers.Frontiers in pediatrics · 2022Article
- Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in aDisease models & mechanisms · 2020Article
- Quantitative description of upper extremity function and activity of people with spinal muscular atrophy.Journal of neuroengineering and rehabilitation · 2020Article
- Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.Annals of clinical and translational neurology · 2019Article
- "I didn't take it too seriously because I'd just never heard of it": Experiential knowledge and genetic screening for thalassaemia in the UK.Journal of genetic counseling · 2019Article
- The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy.Health expectations : an international journal of public participation in health care and health policy · 2018Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant death. There is presently no cure, but the therapeutic pipeline is promising. Given the prevalence of SMA coupled with the potential for new treatment options, universal carrier screening, and newborn screening, we conducted a literature review of the awareness, knowledge, and attitudes held by the public and non-geneticist clinicians about various aspects of SMA. We then identify recommendations for targeting additional research, training, and educational efforts to increase awareness. In the limited available literature, we found that the public is generally unfamiliar with SMA but has favorable views of carrier and newborn screening. Clinicians also had limited understanding of SMA. Further research into knowledge and attitudes of healthcare providers and the general public will help develop a better understanding of education gaps and inform outreach efforts. These educational efforts are needed to complement the momentum as treatments are being developed and tested. Furthermore, professional societies are proposing routine carrier screening and SMA may achieve newborn screening status, which will change the SMA landscape for genetics professionals and families. Thus, it is important to explore knowledge and attitudes about SMA to allow us to prepare for when SMA attains higher public and clinician recognition.
Indexed as
Identifiers
27084745What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.