{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:43:18Z","timestamp":1792417398138,"version":"4.4.0"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Objectives:<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder in children, with an incidence of 1 in 6000\u201310000 live births. It is characterized by progressive lower motor neuron weakness. Studies on the natural history and long-term follow-up of an Indian cohort are sparse. We aim to study the clinical course, systemic complications, and treatment outcomes of children with genetically confirmed SMA during a 2-year follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      A prospective observational study was conducted at Aster MIMS Hospital Calicut, Kerala, including patients with genetically confirmed SMA aged 1 month to 18 years attending the neuromuscular clinic of the pediatric neurology department from 1\n                      <jats:sup>st<\/jats:sup>\n                      April 2022 to 31\n                      <jats:sup>st<\/jats:sup>\n                      March 2024. Data were collected using a standardized neuromuscular clinical proforma and were followed up biannually.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Of the 80 enrolled patients, there were 33 boys and 47 girls. Our study included three types of SMA: 6 with SMA type 1, 55 with SMA type 2, and 19 with SMA type 3. A total of 22\/80 had a positive family history of SMA. Among 46 patients on disease-modifying therapies, 24 showed improvement in functional scores. Bilevel positive airway pressure (BIPAP) ventilation was initiated in 21\/25 patients with abnormal sleep studies. Scoliosis surgery was performed in 10\/54 children with scoliosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>A multidisciplinary approach and early initiation of disease-modifying drugs significantly improved the quality of life in SMA patients and their functional scores. Early BIPAP initiation and timely management of scoliosis were crucial.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_671_25","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T05:00:14Z","timestamp":1775710814000},"page":"206-209","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience"],"prefix":"10.4103","volume":"29","author":[{"family":"Hafsa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smilu","family":"Mohanlal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PM","family":"Mubeena","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aarthi","family":"Balaji","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rajarajeshwari Medical College Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Pramod","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Spine Surgery, Apollo Hospitals, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Aster Malabar Institute of Medical Sciences, Kozhikode, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya","family":"Pachat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Aster Malabar Institute of Medical Sciences, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,4,8]]},"reference":[{"key":"R1-20261019","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1212\/WNL.0000000000009715","article-title":"Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy","volume":"95","author":"Chambers","year":"2020","journal-title":"Neurology"},{"key":"R2-20261019","doi-asserted-by":"crossref","first-page":"393","DOI":"10.5435\/JAAOS-20-06-393","article-title":"Spinal muscular atrophy: Manifestations and management","volume":"20","author":"Mesfin","year":"2012","journal-title":"J Am Acad Orthop 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