Affilation: UniversitÃ Cattolica Sacro Cuore, Italy
Journal Associated: Journal of Neuroscience and Neurological Disorders
Roberta Battini is a specialist in Pediatrics and Child Neuro-psychiatry and after her specialization in Pediatrics with studies in pediatric endocrinological matter she devoted her interest and new specialization toward the neurology of developmental age into the Institute of Scientific Research “Stella Maris” in Pisa. Since her first neuropsychiatric research studies she has always dedicated herself to the Laboratory aspects of neurometabolic disorders, including in particular the biochemical and genetical biomarkers. Since she arrived at the Stella Maris Scientific Institute the main topics of both her clinical and research interests were neurodevelopmental disorders, including neurometabolic and neurodegenerative disorders, neuromuscular disorders and movement disorders. She started to work at MRI Lab with a specific interest in the study of MR Spectroscopy (MRS) and, in collaboration with the MRI team, she tried to apply this particular technique in children and adolescents in order to better define their clinical pictures. In this way she contributed to the clinical, neurochemical (biochemical and MRS profile) and genetical definition of a new inborn error of metabolism in children (Brain Creatine Deficiency Syndromes).
During 2001-2002, in her PhD training period, she participated for various months to the clinical and laboratory activity in the Dpt. of Neurometabolic Disorders in Vienna (Universitatsklinik fur kinder- und jugendheilkunde) with prof. Sylvia Stockler-Ipsiroglu in particular to better define the creatine deficiency syndrome identified and studied in those years from the first discovering just by S. Stockler.
Thanks to the cooperation with Stella Maris MRI Lab, in the last years, she started the muscle MRI study able to identify different muscular pattern as useful “biomarker” of the different diseases. The adjustment in IRCCS Fondazione Stella Maris of the 31P Magnetic Resonance Spectroscopy allowed her, in addition, to study in-vivo the brain energy metabolism but also the muscle metabolic response to dynamic exercise in patients affected by muscular dystrophy and in normal subjects. This last experience has been added to the previous topics of interest and she could integrate the MRI-MRS studies also in neuromuscular disorders. Moreover from 2002 to 2008 she periodically attended the “Dubowitz Neuromuscular Centre”, Dpt. of Paediatrics, Imperial College, in London with prof. Francesco Muntoni and the Dpt. of Paediatric Neurology, Catholic University, Rome, with prof. Eugenio Mercuri in order to acquired clinical and MRI experience in the field of neuromuscular disease in childhood and to participate to multicenter studies on this pathology.
Pediatric endocrinological research; Neurometabolic and neurodegenerative disorders; Rare neurologic diseases; Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Gene mutations.