Reference:
Abstract:
Defined as a neurodevelopmental disorder that affects specific maturational processes of nerve cells, the Rett syndrome (RTT) results in impaired brain development and a consequent severe deficiency of the organism.ﾠThe etiology of the syndrome is due to the alteration of the MECP2 gene or other genes linked to it, located on chromosome X.ﾠThis explains the occurrence of the disease almost exclusively in females with an incidence of 1:12000, occurring after the first year of a seemingly normal life.ﾠThe reading of this book – which identifies the main areas of research in the two sections “Clinical and nature of Rett syndrome” and “therapy, communication, social integration” – can serve to encourage parents, doctors, teachers and speech therapists and traction in the belief that intervene successfully in complex clinical and social implications of the RTT is possible, taking care to protect the patients from the most common orthopedic and neurological complications, and opening a passage in their social isolation and school through an appropriate and personalized intervention cognitive and psychomotor to encourage mobility and communication.ﾠAnother merit of this collection of essays is that it has shown great phenotypic variability of the disease with specific references to the many variants of atypical and whips and congenital or early ejaculation, indicating the genotype-phenotype correlation and suggesting the most appropriate therapy and degree of improvement that can still be expected from a targeted and individualized treatment tends to alleviate the pathological aspects and to promote, at the same time, the untapped potential
PROJECT DETAILS
beginning: n.a
end: n.a
Country of research: Italy
Counry of funding source: Italy
Funding organization: National Research Council
Financing: NATIONAL FUNDINGS – 0 €