Observational longitudinal study of growth patterns, body composition, energy expenditure and dietary intake in Italian infants and children with spinal muscular atrophy type I and II

Patients with spinal muscular atrophy (SMA), particularly type 1 (SMAI) and type 2 (SMAII), are affected by the highest burden of co-morbidities, causing negative effects on nutritional status. Several factors increase the risk of underweight: respiratory problems (weak cough, increased work of breathing, dyspnea) may increase energy expenditure for respiratory work, whereas gastrointestinal problems (dysphagia with ab ingestis pneumonia, delayed gastric emptying, gastroesophageal reflux disease and chronic constipation) may reduce food intake. On the contrary, the decrement in physical activity can lead to overweight and obesity. Moreover, bone mineral density is decreased in SMA patients and alterations of fatty acid metabolism, hyperlipidemia and hyperglycemia have been reported. The nutritional and metabolic abnormalities have been poorly investigated in international literature and no data are available at all in Italian SMAI and SMAII children. Nonetheless, they could be managed with appropriate nutritional strategies. Therefore, we propose an observational longitudinal study with a multidisciplinary integrated approach in order to investigate nutritional status in a large sample of SMAI and SMAII children, to obtain the necessary knowledge to optimize food habits and to improve the nutritional status, by developing predictive formulae to estimate body composition and resting energy expenditure, and by identifying the most common nutritional mistakes in term of macro and micronutrients. Moreover, the relations between nutritional status and motor functions will be investigated. Obtained data will be entered in the Italian Registry of Patients with Neuromuscular Diseases.