Abstract Details

Title Demographic and Clinical Profiles of Neonates Diagnosed with Spinal Muscular Atrophy (SMA) via the Kentucky Newborn Screening (NBS) Program: A Two-Year Experience

Topic Child Neurology and Developmental Neurology

Presentation(s) P17 - Poster Session 17 (11:45 AM-12:45 PM)

Poster/Presentation
Number 6-001

Objective Present two-year data from Kentucky SMA newborn screening (NBS) program.

Background SMA was added to Recommended Universal Screening Panel (RUSP) in 2018. Kentucky NBS program screens ~55,000 babies annually for 37 conditions, and SMA was added on August 13th, 2019.

Design/Methods Data sharing agreement was executed between University of Louisville and University of Kentucky. Information on positive SMA screens was provided by the Cabinet for Health and Family Services to institutions. This retrospective study was considered IRB exempt. Anonymized data was shared between collaborators.

Results

Between 2019 – 2021, ~108,511 neonates were screened for SMA on Kentucky NBS. 16 neonates screened positive, of which 11 (68.75%) were confirmed to have SMA. 4/5 neonates with false positive SMA screen, had an accompanying false positive SCID screen. Average gestational age was ~37 weeks (range 26-40). NBS typically resulted within the first week of life (range 2-13 days). Specialist visits were typically quick (median 0, range -6 to 4 days). 11/16 had a normal neurological examination. SMA confirmatory testing resulted between 2-22 days of being sent (median 4).

Of neonates confirmed to have 5q-SMA, 8/11 (72%) were male and 8/11 were Caucasian. 1/11 had 1 SMN2 gene copy, 2/11 with 2 copies, and equal numbers (4/11) had 3 and 4 copies. Treatment was pursued in 9/11 (81%) patients. First treatment was with nusinersen in 2/11 and onasemnogene abeparvovec-xioi in 7/11 neonates. Time to first treatment ranged between 16-331 days of life (median 48). Factors causing delayed treatment were insurance denial (4), abnormal labs (3), prematurity (1).

Conclusions Two-year data shows SMA incidence of ~1 in 10,000 live births, similar to natural history studies. The overall SMN2 copy number in this cohort, is higher than what has been reported previously. In this cohort, while SMA diagnosis and confirmation were quick, there were treatment delays due to varying factors.

Authors/Disclosures
Arpita Lakhotia, MD, FAAN (University of Louisville/Norton Children Medical Group) PRESENTER	Dr. Lakhotia has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Catalyst. Dr. Lakhotia has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier.
David Toupin, MD (University of Kentucky College of Medicine)	Dr. Toupin has nothing to disclose.
Anna R. Thamann, MD (University of Kentucky Child Neurology)	Dr. Thamann has nothing to disclose.
Kelly Jackson (Norton children’s genetics group)	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Alexander Asamoah (University of Louisville)	No disclosure on file
William C. Robertson, Jr., MD (UK Neurology)	No disclosure on file

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