FRIDAY, Jan. 20, 2023 (HealthDay News) — Newborn screening for spinal muscular atrophy (SMA), together with access to disease-modifying therapies, improves functional burden, according to a study published online Jan. 17 in The Lancet Child & Adolescent Health.
Didu S. Kariyawasam, Ph.D., from the Sydney Children’s Hospital Network, and colleagues conducted a prospective, nonrandomized cohort study involving children younger than 16 years with homozygous exon 7 deletions of survival motor neuron 1 gene mutations, nonselectively assigned to a screening group (incident population diagnosed by newborn screening) or a comparator group (incident population diagnosed by clinical referral; 15 and 18 children, respectively). The screening group had access to disease-modifying therapeutics as an intervention for SMA.
The researchers found that the two-year survival rate was 93 and 89 percent in the screening group and comparator group, respectively. Among survivors, 79 and 6 percent walked independently or with assistance in the screening and comparator groups, respectively. Over two years, there was a significantly greater change in motor function observed in the screening versus the comparator group. Compared with the screening group, the comparator group had a higher requirement for noninvasive ventilation or feeding support. The Hammersmith Infant Neurological Examination-2 score, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, compound muscle action potential, and disease status at diagnosis were significant predictors of functional motor outcomes.
People are also reading…
“This study has bridged the data gap, providing evidence for the effectiveness of screening for SMA and impetus for its wider dissemination,” the authors write.
Two authors disclosed financial ties to biopharmaceutical companies, including sponsors of disease-modifying treatment for spinal muscular atrophy.
Stay connected with us on social media platform for instant update click here to join our Twitter, & Facebook
We are now on Telegram. Click here to join our channel (@TechiUpdate) and stay updated with the latest Technology headlines.
For all the latest Health News Click Here
For the latest news and updates, follow us on Google News.
Denial of responsibility! NewsAzi is an automatic aggregator around the global media. All the content are available free on Internet. We have just arranged it in one platform for educational purpose only. In each content, the hyperlink to the primary source is specified. All trademarks belong to their rightful owners, all materials to their authors. If you are the owner of the content and do not want us to publish your materials on our website, please contact us by email – [email protected]. The content will be deleted within 24 hours.
