Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

• DOI: 10.1007/s00431-022-04470-3
• Publication Date: 2022-05-06T06:03:36Z
• Authors: Marika Pane; Maria Alice Donati; Costanza Cutrona; Roberto De Sanctis; Matteo Pirinu; Giorgia Coratti; Martina Ricci; Concetta Palermo; Beatrice Berti; Daniela Leone; Chiara Ticci; Michele Sacchini; Margherita Cerbon...; Anna Capasso; Gianpaolo Cicala; Maria Carmela Pera; Chiara Bravetti; Emanuela Abiusi; Alessandro Vaisfeld; Giovanni Vento; Francesco Danilo ...; Eugenio Mercuri
• Keywords: Neurological examination; Signs and symptoms

The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate possible presence of early neurological signs. aim this study was use Hammersmith Neonatal Neurological Examination (HNNE) and a module specifically designed floppy infants assess variability findings in identified screening. included were as part pilot exploring screening two Italian regions. A examination performed using HNNE an additional developed assessment infants. Seventeen One patient had 1 SMN2 copy, 9 2 copies, 3 3, 4 more than copies. Nine 17 (53%) completely normal results on both scales, minimal signs, other 5 obvious number copies related abnormal signs (p = 0.036) but associated variable they found some respectively or severe signs.Our suggest combination scales increases detect define different patterns involvement also identifying paucisymptomatic patients.• new therapeutic options presymptomatic SMA leads dramatic reduction onset severity diesease. • already existing tools commonly used Type I (HINE CHOP-intend) not be suitable minor period.• Combining infant module, we able newborn help predict individual outcome these patients. Iinfants compared those three agreement similar older