NUTRITIONAL FINDINGS IN NAÏVE CHILDREN AFFECTED BY SPINAL MUSCULAR ATROPHY TYPE 1 AND TYPE 2

Spinal muscular atrophies (SMA) include a group of neuromuscular disorders characterized by degeneration of alpha motor neurons in the spinal cord with progressive muscle atrophy, weakness, and paralysis. Patients are affected by the highest burden of co-morbidities that deteriorate nutritional status. Respiratory and gastrointestinal problems increase the risk of underweight, whereas the decrement in physical activity can lead to overweight and obesity. Alterations of fatty acid metabolism and hyperglycaemia have been reported. These nutritional and metabolic abnormalities have been poorly investigated by means of systematic approaches so far, but in the last decade, these have become even more important thanks to the increasing evidence of improvements in survival and quality of life and the availability of the first approved treatment and other therapeutic options at an advanced phase. Aims of this study were to investigate growth patterns, body composition, energy expenditure and dietary intake in a large sample of Italian infants and children with SMA1 and SMA2. Secondary objectives were to evaluate the accuracy of field methods on a reference one to assess body fat mass in SMA patients; to develop predictive energy formula; to investigate glucose and lipid metabolism; to evaluate feeding and dietary habits, and to investigate association of body composition with motor function. An observational study was conducted in order to investigate nutritional and metabolic status in a large sample of Italian SMA1 and SMA2 children applying gold standard methods for body composition, energy expenditure, dietary intake, glucose, and lipid metabolism. This study provided a map of naïve SMA1 and SMA2 children in terms of growth pattern, body composition and resting energy expenditure. Anthropometry has proven to be a useful tool for nutritional assessment in SMA and the state of ventilation, besides demographic and anthropometric characteristics, determines the energy needs of SMA patients. Defects in glycaemic and fatty acid metabolism can lead to additional comorbidities, further emphasizing the importance of nutritional management, especially if several dietary deficiencies must be corrected after established checks by the specialist. These data on natural history provide a consistent reference by better understanding the natural progression of SMA and laying the foundations for the development of national, and therefore international, references to the nutritional management of this disease, even more necessary in the new therapeutic era of SMA.