Paediatric neurology is an important branch of medicine which has undergone rapid and extensive development in recent years, mainly due to new knowledge in the field of neurobiology and molecular genetics and the scientific progress of laboratory and imaging diagnostics methods. Childhood neurological disorders include a wide variety of diseases affecting the nervous system, including hereditary genetic diseases, neuromuscular and neurometabolic diseases, diseases associated with intellectual disabilities, malformative and epileptic syndromes, infective diseases of the central and peripheral nervous system, neuroimmune diseases, brain and spinal cord tumours, autism spectrum disorders,behavioural and attention disorders and learning problems. Childhood neurological disorders can co-exist with clinical features that are sometimes overlapping and difficult to interpret from a clinical point of view. However, thanks to the progress of genetic knowledge, it has been possible to identify numerous genetic anomalies responsible for a variety of previously unspecified pathologies, encouraging the molecular characterisation of syndromic pictures into subtypes (endophenotypes) and early, differential and targeted diagnosis.In addition, studies on genotype-phenotype correlation made it possible to improve the nosological and nosographic aspects of several neurological diseases of childhood. The main aim of this research is to explore new clinical approaches for screening tests of a diagnostic and preventive nature, including genetic and epigenetic analyses, to improve not only medical interpretation, but especially to make the type of pharmacological and rehabilitation interventions more effective and dynamic according to the patient’s genomic structure (pharmacogenomics) and neuro-psychopathological assessments. From the approach of translational medicine, the project aims to test and validate a new method based on the collection of clinical data, various clinical-diagnostic, genetic and biomolecular tools and laboratory/instrumental assessments. This will provide for the application of customized therapies and increasing the effectiveness of rehabilitation treatments.
In collaboration with:
IRIB CNR TEAM
- Enrico Parano Senior Researcher, Catania’s Section Manager
- Paola Dell’Albani Researcher
- Rosalia Pellitteri Researcher
- Margherita Rodolico Technologist
- Xena Giada Pappalardo PhD student