{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:42:26Z","timestamp":1787071346373,"version":"build-2736575974"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T00:00:00Z","timestamp":1748908800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7]]},"abstract":"Abstract<\/jats:title>\n \n Background and Objectives:<\/jats:title>\n \n The clinical spectrum of spinal muscular atrophy (SMA) is heterogenous and depends on several factors. This study aimed to investigate the correlation between the motor outcomes and genetic modifiers of\n SMN1<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n \n In this cross-sectional study, children with genetically confirmed diagnosis of SMA were enrolled. Motor outcomes were assessed using standard age-appropriate scale (Children\u2019s Hospital of Philadelphia infant test of neuromuscular disorders [CHOP], Revised Hammersmith Scale [RHS], and Medical Research Council [MRC] sum score). The copy numbers of\n SMN1<\/jats:italic>\n ,\n SMN2<\/jats:italic>\n , and\n NAIP<\/jats:italic>\n genes were estimated using multiplex ligation probe analysis.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n Fifty children with SMA (26 males), with a mean age of 36 (17\u201384) months, were enrolled. Late-onset subtypes of SMA (types 2 and 3) constituted 78% of cases. The mean \u00b1 standard deviation (SD) CHOP score of children with type 1 SMA having one, two, and three copies of\n SMN2<\/jats:italic>\n gene exon 7 was 24 \u00b1 5, 24 \u00b1 8, and 35 \u00b1 13, respectively. The mean \u00b1 SD RHS score of children with type 2 and 3 SMA was 32 \u00b1 16, 29.4 \u00b1 17, 37.8 \u00b1 16, 56 \u00b1 4 among children having two, three, four, and five copies of\n SMN2<\/jats:italic>\n gene exon 7. The RHS score and MRC sum score correlated significantly with\n SMN2<\/jats:italic>\n gene exon 7 copy numbers (\n p<\/jats:italic>\n < 0.05). Homozygous deletion of\n NAIP<\/jats:italic>\n gene was significantly higher in children with type 1 SMA compared to those with type 2 and 3 SMA (\n p<\/jats:italic>\n value- 0.006).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n The\n SMN2<\/jats:italic>\n gene exon 7 copy numbers correlate significantly with motor outcomes in children with SMA.\n NAIP<\/jats:italic>\n gene deletion negatively influences the disease severity.\n NAIP<\/jats:italic>\n gene can serve as a biomarker for disease prognostication.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/aian.aian_974_24","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T10:00:21Z","timestamp":1755511221000},"page":"579-584","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy"],"prefix":"10.4103","volume":"28","author":[{"given":"Shubhangi","family":"Singh","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renu","family":"Suthar","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhishek","family":"Pandey","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitendra K","family":"Sahu","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,6,3]]},"reference":[{"key":"R1-20250821","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol 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