Evaluation of body composition as a potential biomarker in spinal muscular atrophy.

INTRODUCTION: We aimed to investigate the correlation between body composition (BC) and spinal muscular atrophy (SMA)-specific motor function assessments. METHODS: Patients with SMA types I or II, aged 1 to 10 years, were recruited in this cross-sectional study. The protocol included anthropometric measurements, and dual-energy X-ray absoprtiometry to assess fat mass (FM), lean mass (LM), fat-free mass (FFM), FM and FFM indexes (FMI, FFMI), and motor function assessments (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scale for SMAI, and Hammersmith Functional Motor Scale-Expanded for SMAII). RESULTS: Eighty-eight children were included. All had a higher FM percentage than reference values. Motor function was moderately correlated with body mass index (BMI), FFMI, and LMI in SMAI, and weakly correlated with FFMI, LMI, and LM:FM ratio in SMAII. DISCUSSION: BC shows promise as a potential biomarker for SMA, but further studies are needed.

3D Facial morphology in children affected by spinal muscular atrophy type 2 (SMAII).

OBJECTIVES: The main objective of this study was to assess the three-dimensional facial characteristics of children affected by spinal muscular atrophy (SMA), a severe muscular disorder characterized by hypotonia, areflexia, weakness, and respiratory impairment. MATERIALS/METHODS: Stereophotogrammetric facial scans from 22 SMA type II patients aged 2-7 years were obtained. Data were analysed using both inter-landmark distances and principal component analysis and compared with data collected from matched control subjects. RESULTS: Patients had wider transverse facial diameters, but smaller biocular width. Middle and lower anterior face heights were increased, whereas the mandibular ramus was shorter, with a reduced posterior-to-anterior face height ratio. Facial width-to-length ratio was reduced. In the sagittal plane, mandibular body length, and facial divergence were increased, whereas the gonial angles were decreased. In the horizontal plane, lower facial convexity was greater in patients, whereas mandibular convexity was smaller. Patients had smaller and down-slanted eye fissures, with a larger and more vertically developed nose. LIMITATIONS: This study assessed a relatively small number of patients, due to the rare frequency of SMA type II. CONCLUSIONS/IMPLICATIONS: SMA type II children possess peculiar facial alterations that may be due to the altered muscular activity. As feeding problems may derive also by malocclusion and masticatory muscular alterations, a detailed assessment of the craniofacial individual alterations should be considered in the standards of care of these patients.

A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children.

The involvement of the respiratory muscular pump makes SMA children prone to frequent hospitalization and morbidity, particularly in type 1. Progressive weakness affects ribcage muscles resulting in bell-shaped chest that was never quantified. The aims of the present work were: (1) to quantify the presence of bell-shaped chest in SMA infants and children and to correlate it with the action of ribcage muscles, assessed by the contribution of pulmonary ribcage to tidal volume (ΔVRC, p); (2) to verify if and how the structure of the ribcage and ΔVRC, p change after 1-year in SMA type 2. 91 SMA children were studied in supine position during awake spontaneous breathing: 32 with type 1 (SMA1, median age: 0.8 years), 51 with type 2 (SMA2, 3.7 years), 8 with type 3 (SMA3, 5.4 years) and 20 healthy children (HC, 5.2 years). 14 SMA2 showed negative ΔVRC, p (SMA2px), index of paradoxical inspiratory inward motion. The bell-shaped chest index was defined as the ratio between the distance of the two anterior axillary lines at sternal angle and the distance between the right and left 10th costal cartilage. If this index was < < 1, it indicated bell shape, if ~1 it indicated rectangular shape, while if >> 1 an inverted triangle shape was identified. While the bell-shaped index was similar between HC (0.92) and SMA3 (0.91), it was significantly (p < 0.05) reduced in SMA2 (0.81), SMA2px (0.74) and SMA1 (0.73), being similar between the last two. There was a good correlation (Spearman's rank correlation coefficient, ρ = 0.635, p < 0.001) between ribcage geometry and ΔVRC, p. After 1 year, ΔVRC, p reduced while bell-shaped chest index did not change being significantly lower than HC. The shape of the ribcage was quantified and correlated with the action of ribcage muscles in SMA children. The impaired ribcage muscles function alters the ribcage structure. HC and SMA3 show an almost rectangular ribcage shape, whereas SMA2, SMA2px and SMA1 are characterized by bell-shaped chest. In SMA, therefore, a vicious cycle starts since infancy: the disease progressively affects ribcage muscles resulting in reduced expansion of lung and ribcage that ultimately alters ribcage shape. This puts the respiratory muscles at mechanical disadvantage.