Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children
A Cross-Sectional Study
Bibliographic Data
| ID | 15718344 |
|---|---|
| Authors | Beatriz de-Andrés-Beltrán (Universidad Rey Juan Carlos), Javier Güeita‐Rodríguez (0000-0003-4824-5915, Universidad Rey Juan Carlos, corresponding author), Domingo Palacios-Ceña (0000-0003-0669-6339, Universidad Rey Juan Carlos), A L Rodríguez Fernández (0000-0002-7575-9885, Universidad San Pablo CEU) |
| Year | 2023 |
| Volume | 10 |
| Issue | 5 |
| Pages | 892-892 |
| Publication date | 2023-05-16 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children10050892 |
| PMID | 37238440 |
| OpenAlex | W4376890789 |
| Language | EN |
| Citations received | 1 |
| References cited | 47 |
Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was conducted based on the STROBE guidelines. Patient questionnaires and standardized tools were used. A descriptive analysis was conducted establishing the proportions of subjects for each of the characteristics of interest. In total, 51 genetically confirmed SMA type I subjects were included. Fifty-seven percent received oral feeding, 33% received tube feeding and 10% combined both. Moreover, 21.6% had tracheostomies, and 9.8% needed more than 16 h/d ventilatory support. Regarding orthopedic status, 66.7% had scoliosis, and 68.6% had hip subluxation or dislocation. Up to 67% were able to sit independently, 23.5% walked with support and one child walked independently. Current SMA type I is a different entity from the classic phenotype but also from types II and III. In addition, no differences were found between SMA type I subgroups. These findings may enable the professionals involved in the care of these patients to improve their interventions in terms of prevention and rehabilitation measures for these children
Alternative medicine · Cross-sectional study · Disease · Orthopedic surgery · Pathology · Physical medicine and rehabilitation · Physical therapy · Psychological intervention · Scoliosis · SMA · Spinal muscular atrophy · Subluxation · Cardiac Structural Anomalies and Repair · Mechanical Circulatory Support Devices · Medicine · Neurogenetic and Muscular Disorders Research · Nursing · Internal Medicine · Rehabilitation · Surgery
| Citations per year | 0.33 |
|---|---|
| Citation span | 2023 - 2023 (1) |
| Highly cited | No |