Severe immune deficiency syndromes. Pediatricians: “Three out of four children are not diagnosed in time”

The data presented at the opening press conference at the congress of the Italian Society of Pediatric Research. Pignata: “We have a research project dedicated to strategies to increase the attention of family pediatricians: early symptoms must be recognized, it is necessary to intervene quickly”. Siani: “Biological drug-based therapies are capable of acting with precision medical mechanisms”

10 JUN

One child in 50,000, with newborn screening, suffers from a severe genetic defect. But for every case diagnosed, three are not recognized in time and die within the first year of life. A serious situation where an extension of the scientific methodology to territorial pediatrics is necessary to increase physicians’ monitoring of these rare forms.

This and much more will be discussed on 13 and 14 June in Naples on the occasion of the National Conference of the Italian Society of Pediatric Research. The event, divided into several sessions, will see the presence of specialists from the most qualified research centers used for pediatric pathologies.

“Immune deficiency syndromes are a real emergency because most of these small patients are undiagnosed and suffer from a poor outcome due to the delay in starting treatments – he says. Claudio Pignata, full professor of pediatrics Chairman of the Italian Society of Pediatric Research Department of Translational Medical Sciences Federico II University -. In order to identify and treat these children in a timely manner, the direct involvement of family pediatricians is crucial. We have a research project, coordinated by De Giovanni, dedicated precisely to strategies to increase doctors’ attention: early symptoms must be recognized, it is necessary to intervene quickly to ensure that the drugs work properly. “

During the two days, post-Covid will also discuss high-profile scientific projects and interdisciplinary working methods. An important news is the results of the first pilot study of the Mediterranean diet used for children, which shows the benefits of this type of diet rich in fruits and vegetables even on the smallest – emphasizes Pignata – We also focus a lot on pediatrician predictions from now until 2050: I medicine has changed radically in the last 30 years, today, thanks to the acceleration of the knowledge process, the quality of care and the number of identified patients, we expect even greater changes, not only from a scientific point of view, but also from the Italian “We have a major problem with public funding for pediatric research, which is far too punitive compared to other areas of medicine.”

“The conference will be the only opportunity for a comparison with the methods of subsidies from other countries in the world: there will be international guests from the United States, Germany and England. As SIRP, we propose the establishment of an independent agency that guarantees the correctness of the process. We would like the evaluations to be carried out by specialists in the specific sector. It is also important to give a lot of space to the young people and think about turnover in time, because the scientific preparation is very long, it requires at least 10 years of study. to involve and encourage the ‘new’ pediatricians to take it on. We would like to launch an experimental program dedicated to those with an interest in research, which includes the inclusion of a high-profile scientific path during the course of specialization. “

“It is important that the institutions recognize the vital role that scientific research plays, secure funding and support specialists, especially when it comes to pediatrics – declares the Honorable Paolo Siani, pediatrician, Vice President of the Two-Chamber Commission on Childhood and Adolescence and former Director of the Pediatric Complex Operating Unit at the Santobono-Pausilipon Hospital in Naples -. Innovation in this area means looking at the citizens of the future, guaranteeing them good health and never letting their studies stop. Research has had an important development after the pandemic, especially for post SARS-CoV-2 syndromes, which affect even the smallest. For them, SIRP has created a national project, ‘long-covid kids’. There are numerous other pathologies under investigation. Today, therapies based on biological drugs that are capable of working with precision medical mechanisms are of great interest. Excellent results have been shown in the treatment of atopic dermatitis, as highlighted by Moschese and some autoimmune disorders and generic diseases such as Pompe and Wilson’s syndromes. For the latter, experimental therapies have completely changed the scenario. “

June 10, 2022
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