J Korean Child Neurol Soc.  2018 Dec;26(4):189-196. 10.26815/jkcns.2018.26.4.189.

Etiological Classification and Developmental Outcomes in Floppy Infants: A Single Tertiary Center Experience

• Park JM
• Choi YH
• Lee HN
• Chung HJ

• KMID: 2437099
• DOI: http://doi.org/10.26815/jkcns.2018.26.4.189

Abstract

PURPOSE
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.
METHODS
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.
RESULTS
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.

Keyword

Decreased muscle tone; Hypotonia; Prader-Willi syndrome; Myotonic dystrophy; Spinal muscular atrophy

MeSH Terms

Caregivers
Classification*
Diagnosis
Humans
Infant*
Muscle Hypotonia
Muscular Atrophy, Spinal
Myotonic Dystrophy
Peripheral Nervous System
Prader-Willi Syndrome
Prognosis
Quality of Life
Retrospective Studies