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Ann Child Neurol > Volume 26(4); 2018 > Article
Journal of the Korean Child Neurology Society 2018;26(4):189-196.
DOI: https://doi.org/10.26815/jkcns.2018.26.4.189    Published online December 31, 2018.
Etiological Classification and Developmental Outcomes in Floppy Infants: A Single Tertiary Center Experience
Jung Min Park1, Young Ha Choi1, Ha Neul Lee1, Hee Jung Chung2
1Department of Pediatrics, Yonsei University Col­ lege of Medicine, Seoul, Korea
2Department of Pediatrics, National Health Insu­ rance Service Ilsan Hospital, Goyang, Korea
Correspondence:  Ha Neul Lee, Tel: +82-2-2019-3350, Fax: +82-2-3461-9473, 
Email: haneul_sky_lee@yuhs.ac
Hee Jung Chung, Tel: +82-31-900-0520, Fax: +82-31-900-0343, 
Email: agathac@nhimc.or.kr
Received: 30 July 2018   • Revised: 5 October 2018   • Accepted: 9 October 2018
Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants.
We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children’s Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants’ families.
Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.
Key Words: Decreased muscle tone, Hypotonia, Prader-Willi syndrome, Myotonic dystrophy, Spinal muscular atrophy


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