Università degli studi di Modena e Reggio Emilia

International guidelines for Phelan-McDermid syndrome: in the team of scholars the only Italian is Prof. Antonio Persico

Prof. Antonio Persico of the Department of Biomedical, Metabolic and Neural Science at Unimore is the only Italian expert to have contributed to the drafting of the international guidelines for the clinical management of patients with Phelan-McDermid Syndrome, recently published in the American Journal of Medical Genetics.

Phelan-McDermid syndrome is a rare disease with a genetic basis, due to deletion of chromosome 22q13, mutations in the SHANK3 gene, or rearrangements of chromosome 22 with formation of a ring chromosome. These genetic abnormalities are almost always "de novo", i.e. they are not inherited from a parent, but only relate to the affected child. Clinically, the syndrome is mainly characterised by intellectual disability, muscular hypotonia, speech delay or absence, motor coordination deficits, and often by autism.

"These guidelines on the clinical management of Phelan-McDermid syndrome gather the consensus of the world's leading experts, mainly from the United States, and will allow a more accurate, timely and up-to-date follow-up of these patients. Phelan-McDermid syndrome is one of the most frequent causes of intellectual disability (once called “mental retardation”) and autism. Moreover, it represents a well-studied paradigm of how a genetic abnormality can alter the development of the nervous system and thus produce negative consequences on a child's neuropsychic structure”, said Prof. Persico.

Prof. Antonio Persico, Head of the Child and Adolescent Neuropsychiatry Programme at the Azienda Ospedaliero-Universitaria di Modena, is also a member of the Scientific Committee of the Italian Association for Phelan-McDermid Syndrome (AISPHEM) and of the “Phelan-McDermid Neuropsychiatric Consultation Group - Extension for Community Healthcare Outcomes”, coordinated by Prof. Alex Kolevzon of Mount Sinai Hospital in New York. This is a worldwide group of clinical experts on the syndrome that meets every 15 days to discuss particularly complex cases presented by the patient's treating physician.

Categorie: International - english