Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study.

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.

Evaluation of the psychometric properties of the Spanish version of the Denver Developmental Screening Test II.

UNLABELLED: The objective of this study was to examine the psychometric properties of the Spanish version of the Denver Developmental Screening Test II in a population of Spanish children. Two hundred children ranging from 9 month to 6 years were grouped into two samples (healthy/with psychomotor delay) and screened in order to check whether they suffered from psychomotor delay. Children from three Early Intervention Centres and three schools participated in this study. Criterion validity was calculated by the method of extreme groups, comparing healthy children to those with development delay. Interobserver and intraobserver reliability were calculated using Cohen Kappa coefficient, and internal consistency was calculated via the Kuder-Richardson coefficient. The scale demonstrated 89% sensitivity, 92% specificity, a positive predicted value of 91% and a negative predicted value of 89%, whereas the positive and negative likelihood ratio was 11.12 and 0.12, respectively. Intraobserver reliability ranged from 0.662 to 1, and interobserver reliability ranged from 0.886 to 1. The Kuder-Richardson coefficient values ranged from 87.5 to 97.6%. CONCLUSION: The Spanish version of the Denver Developmental Screening Test II was found to have a good criterion validity, reliability and internal consistency and is a suitable screening test for use in a population of Spanish children.