Over 40% of rare diseases in pediatric age involve the nervous system, interfering with the child's neuropsychological development.
An early diagnosis and timely intervention by a child neuropsychiatrist can in many cases change the path of diseases which in our country, according to the Orphanet Italia network, affect around 2 million people, in 70% of cases children.
This is underlined by the Italian Society of Childhood and Adolescent Neuropsychiatry (Sinpia) in view of World Rare Disease Day (29 February).
"Many of the rare diseases with onset in developmental age - explains Elisa Fazzi, President of Sinpia and Director of the Child and Adolescent Neuropsychiatry Unit of the Asst Spedali Civili and University of Brescia - require long-term and multidisciplinary neuropsychiatric and rehabilitation management because these are pathologies that have different aspects in common, including: the difficulty for the child to obtain an appropriate and rapid diagnosis; the rare availability of definitive treatments; the progress of the disease which is often chronic-disabling with consequent individual, family burden and social".
From Angelman syndrome to Spinal Muscular Atrophy (Sma), from Ataxia Telangiectasia to Aicardi-Goutières syndrome to gene therapy for Aadc deficiency (aromatic L-amino acid decarboxylase deficiency), there are various diseases that can interfere with the neuropsychic development of the child but "the diagnostic techniques, the attention to early diagnosis and the development of orphan drugs - says Simona Orcesi, associate of Child Neuropsychiatry at the University of Pavia and member of the Board of Directors of Sinpia - today allow us to cure an ever-increasing number of rare diseases".
For Vincenzo Leuzzi, former Director of the Institute of Child Neuropsychiatry of the Sapienza University of Rome, expert in rare diseases and Sinpia member, "the improvement of the prognosis is linked to the early and appropriateness of the interventions activated, with a view to taking charge made up of treatment paths and a coordinated network of health, social, educational and personalized interventions".
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