Use of Developmental Screening Tools to Identify Early Signs of SMA

EP: 1.Pediatric Neurological Exam to Identify SMA

EP: 2.Virtual Exam Findings in an Infant Affected by Spinal Muscular Atrophy

EP: 3.Signs and Symptoms of SMA

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EP: 4.Use of Developmental Screening Tools to Identify Early Signs of SMA

EP: 5.Urgency for Early Diagnosis and Treatment in SMA

EP: 6.Use of Telehealth to Address Parental Concerns

EP: 7.Workflow for Remote Visits During COVID-19

EP: 8.Hallmark Signs of SMA in Pediatric Patients

EP: 9.SMA Resources for Physicians and Families

EP: 10.Advice to Community Pediatricians Evaluating SMA

Diana Castro, MD: Pediatricians are really busy. Your practice is extremely busy, and sometimes you have nurses or MAs [medical assistants] running through the developmental screening. Does that help you recognize some of these early signs of spinal muscular atrophy [SMA]?

Garey H. Noritz, MD: Yes. We think it’s really important to have these standardized screens, and there are lots of instruments that a pediatrician could use. We don’t necessarily think one is better than another, but the important thing is to choose one and get familiar with it. Then you and your staff do it over and over. Not all parents will know the normal progression of motor milestones—holding the head up well by 2 months, sitting by 6 months, that kind of thing—but it’s on the checklist for parents to go through.

One of the things we’ll talk about is other places that parents can go to get information about motor problems that they might be worried about with their children. But these standardized evaluations are very important because they give us a very clear sign—at a baby’s 2- or 4-month visit, whether or not they’re doing this developmental milestone or they’re about to gives us something to follow. Most of the time, kids who have developmental problems will catch up, but we want to find them, make sure they don’t have something very serious like SMA, and get them into diagnostics and therapy as fast as we can.

Diana Castro, MD: Is this something that the person who works in your office will help you with, or is this kind of screening, are these kinds of questionnaires done by you?

Garey H. Noritz, MD: It’s different in every office, and it depends on what kind of staff you have. In our program, this is a big part of our medical assistant’s job, and she goes through the papers. We even have them on iPads, which the families get. They can score them really quickly and say, “This one’s normal, this one’s normal, this one’s normal, there’s something wrong with this one,” and then flag it for me or one of the other pediatricians to examine more closely.

Diana Castro, MD: I would like to come back to that once we talk about the telehealth visits because that’s something I’m sure has changed.

Dr Noritz, thank you so much. It was a very interesting conversation. Thank you for watching this HCPLive® Cure Connections® program. If you’re enjoying the content, please subscribe to our e-newsletter to receive upcoming programs and other great content in your inbox. Thank you so much.

Garey H. Noritz, MD: Thank you.

Transcript Edited for Clarity