Now it is done for 40 metabolic diseases. Appeal of the Associations: «It should be extended to other severe diseases for which there are therapies. Immediately approve the Tariff Decree ”
Every year it
extended newborn screening
(SNE) saves the lives of over 400 children ma it could save many more, as well as avoiding serious disabilities to other little ones. The compulsory and free test, done to all new born in Italy by taking a few drops of blood from the heel in the first 72 hours of life, to date pit allows the early detection of up to more than 40 congenital metabolic diseases and, if so, of start the appropriate treatment immediately. Ma other severe pathologiesfor which treatments are available that can prevent permanent damage or even death of the child, are waiting to be included in the panel of diseases to be tested with the SNE.
Appeal to the Regions
The hub is
l’approval of
so-called “Tariffs Decree”which establishes the rates to be paid to providers for the services of specialist outpatient and prosthetic assistance included in 2017 in the Essential levels of assistance (LEA)
, but not yet available. The measure is
all’
agenda of the State-Regions Conference on 28 September
. From here the appeal for the green light to the Agreement between the State and the Regions on the “Outline of the decree concerning the definition of the rates of specialist outpatient and prosthetic assistance”, r
received from Patient associations mainly to the presidents of the regionssince the
first version
of the Decree that updated the rates for specialist visits and prostheses – prepared by the Ministries of Health and Economy and Finance – had been rejected last January by the Conference of the Regions.
Immediate diagnosis
Extended neonatal screening, introduced by Law no. 167/2016 “Provisions on mandatory neonatal diagnostic tests for the prevention and treatment of hereditary metabolic diseases”, currently includes over 40 pathologies identified by the Decree of 13 October 2016. In 2017, the SNE has been included in the DPCM updating the LEA (art.38 paragraph 2), the essential levels of assistance to which all citizens are entitled. “Thanks to the extended newborn screening, alone last year They were 426 children born with genetic metabolic diseases saved – reports Manuela Vaccarotto, vice president of the Italian Association for Hereditary Metabolic Diseases (AISMME onlus), which has been involved in promoting the SNE for years -. In 2016per
get to one diagnosis they expected on average 7 years
with terrible consequences, not
col test it is practically immediate for over 40 metabolic diseases (out of more than 1,700 known)
which allows you to start treatment immediately adequate, sometimes even just one special diet».
Update the list
“On the occasion of the month of awareness on newborn screening – continues Vaccarotto – we ask that the delays in applying the rules, which provide for theextension of newborn screening to further disabling pathologies for which there is a therapy».
In particular, the 2019 Budget Law (Article 1 paragraph 544) has extended newborn screening to genetic neuromuscular diseasesat severe congenital immunodeficiencies and at lysosomal storage diseases and established the“at least biennial” update of the “list of pathologies to be searched for through newborn screening, in relation to the evolution over time of scientific evidence in the diagnostic-therapeutic field for hereditary genetic diseases “.
Among these congenital diseases for which treatments are available, are waiting to be added to the list of those to be tested with the SNE: the SMA– spinal muscular atrophy, some lysosomal pathologies such as m
type I ucopolysaccharidosis, Fabry, Gaucher and Pompe diseases, severe combined immunodeficiencies (SCIDs), X-linked adrenoleukodystrophy, metachromatic leukodystrophy.
Regional disparities
Some of these diseases have been included in regional screening programs. The vice president of AISMME underlines: «They are being created unacceptable disparities between children: depending on the place where they are born, they may or may not have access to neonatal screening for some pathologies not included in the official panel. But the right to early diagnosis and timely treatment must be guaranteed for every child».
In addition to the diseases that must enter the panel of those tested at birth throughout Italy, then, there are other problems on the table. Vaccarotto summarizes: «The operating protocol
to manage the methods of taking charge of the patient positive at newborn screeningmust be organized there t
reaction of the patient from adolescence to adulthood,
the analysis laboratories and the treatment centers
with expert staff, and then it is necessary to bind by law the resources dedicated to newborn screening attributed to the Regions “.
September 26, 2022 (change September 26, 2022 | 11:21)
© Time.News