“The Apulian record in the early diagnosis of SMA has been ascertained by a prestigious international scientific journal”. The announcement is by Fabiano Amati, president of the regional budget and planning commission. The journal that dealt with the Apulian case is the ‘Annals of Clinical and Translational Neurology’: an editorial product with a scientific object, completely open access and peer-reviewed for the 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 pioneer Italian region in introducing mandatory screening at the birth of SMA, starting from 6 December 2021. A recent Italian pilot study on a 2-year experience has shown that NBS has led to the identification of 15 newborns with a molecular diagnosis of SMA, highlighting the importance of standardizing current molecular diagnostic techniques.”
The aim of the work is then explained as “evaluating 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 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 of parents and the availability of a multidisciplinary team, including geneticists, pediatric neurologists, physiotherapists, anesthetists, genetic counselors and specialized nurses. This unique setup has facilitated collaboration between experts, streamlined processes and accelerated the creation of NBS programs.”
And all this to reach the satisfactory conclusion that “the successful launch of the SMA-NBS study in Puglia has illuminated the path towards early diagnosis and treatment throughout the country. While recognizing its benefits, the study highlights the need for equity in NBS programs, with the aim of making SMA-NBS mandatory throughout Italy. The journey ahead includes refining workflows, improving medical training, and promoting broader awareness to ensure rapid and equitable implementation of SMA-NBS across the nation. 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.”
