It is estimated that 5% of the world's population, about 30 million in Europe alone, is affected by rare diseases. According to the Orphanet Italia network, there are about 2 million rare patients in Italy and 70% of cases are of pediatric patients. The number of rare diseases known and diagnosed is about 10,000, but it is a figure that increases with advances in science and research: if 72% of rare diseases have a genetic origin, the others are the result of infections, allergies and environmental causes, or are rare cancers. According to data from the National Registry for Rare Diseases of the Istituto Superiore di Sanità (ISS), which has been released on the occasion of the Rare Disease Day celebrated yesterday, every year in Italy about 19,000 new cases of rare diseases are estimated, and they are often united by several aspects such as the difficulty for the patient to obtain an appropriate and rapid diagnosis; the rare availability of curative treatments; the situation of the chronic-disabling disease with consequent individual, family and social burden. Therefore, long-term, multidisciplinary neuropsychiatric and rehabilitative care is often necessary. Rare diseases can affect many organs or apparatuses: about 40% of these diseases have a neurological component and involve the central and peripheral nervous system and muscle. Numerous children and adolescents suffering from rare diseases also carry neurological, neuropsychological and psychiatric disabilities, some as a biological outcome of the disease, many others due to the social isolation they experience in life contexts.
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