“The Apulian record in the early diagnosis of SMA has been ascertained by a prestigious international scientific journal. This is the health policy that I like and not the one equipped to direct and preserve the mechanisms of power, devoid of height, duration and therefore ephemeral”. This is what the President of the Regional Budget and Planning Commission Fabiano Amati declared.
The Apulian example in the treatment of SMA was discussed in an article in the journal ‘Annals of Clinical and Translational Neurology’ (here is the full article), an editorial product with a scientific object, completely open access and subjected to peer review for rapid dissemination of high-quality research relating to all areas of neurology. The title of the study is ‘Early treatment of spinal muscular atrophy after newborn screening: a 20-month review of the first Italian regional experience’.
Already in the introduction we read about Puglia “as the Italian region pioneered in introducing mandatory screening at birth for SMA, starting from 6 December 2021. A recent Italian pilot study over a 2-year experience demonstrated that NBS led to the identification of 15 newborns with molecular diagnosis of SMA, highlighting the importance of standardizing current molecular diagnostic techniques”.
The purpose of the work is then explained in “evaluate the impact of the implementation of NBS in Italy, on accessibility to care and patient outcomes, using the example of Puglia“.
In the body of the study we read: “The key factors that contributed to the success of the SMA-NBS in Puglia were the existence of a mandatory NBS program, the presence of a neuro-pediatric department capable of meeting the needs of both children and parents and the availability of a team multidisciplinary, including geneticists, pediatric neurologists, physiotherapists, anesthetists, genetic counselors, specialized nurses. This unique setup facilitated collaboration between experts, streamlined processes, and accelerated the creation of NBS programs.”
And all this to reach the satisfying conclusion that “The successful launch of the Sma-NBS study in Puglia has illuminated the path towards early diagnosis and treatment across the country. While recognizing its benefits, the study highlights the need for equity in NBS programmes, with the aim of make SMA-NBS mandatory throughout Italy. The journey ahead involves refining workflows, improving medical training and promoting broader awareness to ensure rapid and equitable implementation of SMA-NBS across the country. Furthermore, the study recommends both immediate treatment and a monitored approach, in line with evolving medical knowledge.”
The study was written by pediatric neurologists, biologists and geneticists from the Dino Ferrari center of the University of Milan, the Giovanni XXIII pediatric hospital in Bari and the Di Venere hospital in Bari: Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti , Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania Corti, Giacomo Pietro Comi, Mattia Gentile and Delio Gagliardi.
