Coratti G, Ricci M, Capasso A et al (2023) Prevalence of spinal muscular atrophy in the era of disease-modifying therapies: an Italian nationwide survey. Neurology 100:522–528. https://doi.org/10.1212/WNL.0000000000201654

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mercuri E, Pera MC, Scoto M et al (2020) Spinal muscular atrophy - insights and challenges in the treatment era. Nat Rev Neurol 16:706–715. https://doi.org/10.1038/s41582-020-00413-4

Article  CAS  PubMed  Google Scholar 

Burr P, Reddivari AKR (2023) Spinal muscle atrophy. In: StatPearls. StatPearls Publishing, Treasure Island (FL)

Kolb SJ, Kissel JT (2011) Spinal muscular atrophy: a timely review. Arch Neurol 68:979–984. https://doi.org/10.1001/archneurol.2011.74

Article  PubMed  Google Scholar 

de-Andrés-Beltrán B, Güeita-Rodríguez J, Palacios-Ceña D, Rodríguez-Fernández ÁL (2023) Clinical and functional characteristics of a new phenotype of SMA type I among a national sample of Spanish children: a cross-sectional study. Children (Basel) 10:892. https://doi.org/10.3390/children10050892

Article  PubMed  Google Scholar 

Wang CH, Finkel RS, Bertini ES et al (2007) Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 22:1027–1049. https://doi.org/10.1177/0883073807305788

Article  PubMed  Google Scholar 

Kaufmann P, McDermott MP, Darras BT et al (2011) Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 68:779–786. https://doi.org/10.1001/archneurol.2010.373

Article  PubMed  Google Scholar 

Trabacca A, Lucarelli E, Pacifico R et al (2020) The international classification of functioning, disability and health-children and youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study. Eur J Phys Rehabil Med 56:243–251. https://doi.org/10.23736/S1973-9087.20.05968-7

Article  PubMed  Google Scholar 

S L, L B, S R, et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80. https://doi.org/10.1016/0092-8674(95)90460-3

To C, Ca P (1996) The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 3. https://doi.org/10.1006/nbdi.1996.0010

Mendonça RH, Rocha AJ, Lozano-Arango A et al (2019) Severe brain involvement in 5q spinal muscular atrophy type 0. Ann Neurol 86:458–462. https://doi.org/10.1002/ana.25549

Article  CAS  PubMed  Google Scholar 

Reilly A, Chehade L, Kothary R (2023) Curing SMA: are we there yet? Gene Ther 30:8–17. https://doi.org/10.1038/s41434-022-00349-y

Article  CAS  PubMed  Google Scholar 

Trabacca A (2020) Neuromuscular diseases rehabilitation in the era of gene therapy. Neurol Sci 41:1971–1972. https://doi.org/10.1007/s10072-020-04280-1

Article  PubMed  Google Scholar 

Duong T, Staunton H, Braid J et al (2021) A patient-centered evaluation of meaningful change on the 32-item motor function measure in spinal muscular atrophy using qualitative and quantitative data. Front Neurol 12:770423. https://doi.org/10.3389/fneur.2021.770423

Article  PubMed  Google Scholar 

Antonaci L, Pera MC, Mercuri E (2023) New therapies for spinal muscular atrophy: where we stand and what is next. Eur J Pediatr 182:2935–2942. https://doi.org/10.1007/s00431-023-04883-8

Article  PubMed  PubMed Central  Google Scholar 

Finkel RS, Mercuri E, Meyer OH et al (2018) Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 28:197–207. https://doi.org/10.1016/j.nmd.2017.11.004

Article  PubMed  Google Scholar 

Lipnick SL, Agniel DM, Aggarwal R et al (2019) Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLoS One 14:e0213680. https://doi.org/10.1371/journal.pone.0213680

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ramos DM, d’Ydewalle C, Gabbeta V et al (2019) Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment. J Clin Invest 129:4817–4831. https://doi.org/10.1172/JCI124120

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dangouloff T, Servais L (2019) Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives. Ther Clin Risk Manag 15:1153–1161. https://doi.org/10.2147/TCRM.S172291

Article  CAS  PubMed  PubMed Central  Google Scholar 

Masson R, Brusa C, Scoto M, Baranello G (2021) Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. Dev Med Child Neurol 63:527–536. https://doi.org/10.1111/dmcn.14798

Article  PubMed  Google Scholar 

Polido GJ, de Miranda MMV, Carvas N et al (2019) Cognitive performance of children with spinal muscular atrophy: a systematic review. Dement Neuropsychol 13:436–443. https://doi.org/10.1590/1980-57642018dn13-040011

Article  PubMed  PubMed Central  Google Scholar 

Kizina K, Akkaya Y, Jokisch D et al (2021) Cognitive impairment in adult patients with 5q-associated spinal muscular atrophy. Brain Sci 11:1184. https://doi.org/10.3390/brainsci11091184

Article  CAS  PubMed  PubMed Central  Google Scholar 

von Gontard A, Zerres K, Backes M et al (2002) Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscul Disord 12:130–136. https://doi.org/10.1016/S0960-8966(01)00274-7

Article  Google Scholar 

Osmanovic A, Wieselmann G, Mix L et al (2020) Cognitive performance of patients with adult 5q-spinal muscular atrophy and with amyotrophic lateral sclerosis. Brain Sci 11:8. https://doi.org/10.3390/brainsci11010008

Article  PubMed  PubMed Central  Google Scholar 

Mix L, Schreiber-Katz O, Wurster CD et al (2021) Executive function is inversely correlated with physical function: the cognitive profile of adult spinal muscular atrophy (SMA). Orphanet J Rare Dis 16:10. https://doi.org/10.1186/s13023-020-01661-9

Article  PubMed  PubMed Central  Google Scholar 

Vidovic M, Freigang M, Aust E et al (2023) Cognitive performance of adult patients with SMA before and after treatment initiation with nusinersen. BMC Neurol 23:216. https://doi.org/10.1186/s12883-023-03261-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Buchignani B, Cicala G, Moriconi F et al (2023) Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment? Neuromuscul Disord 33:711–717. https://doi.org/10.1016/j.nmd.2023.08.005

Article  PubMed  Google Scholar 

Ngawa M, Dal Farra F, Marinescu A-D, Servais L (2023) Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy. Ther Adv Neurol Disord 16:17562864231154336. https://doi.org/10.1177/17562864231154335

Article  Google Scholar 

Zappa G, LoMauro A, Baranello G et al (2021) Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1. J Neurodev Disord 13:9. https://doi.org/10.1186/s11689-021-09355-4

Article  PubMed  PubMed Central  Google Scholar 

Polido GJ, Barbosa AF, Morimoto CH et al (2017) Matching pairs difficulty in children with spinal muscular atrophy type I. Neuromuscul Disord 27:419–427. https://doi.org/10.1016/j.nmd.2017.01.017

Article  PubMed  Google Scholar 

Tosi M, Cumbo F, Catteruccia M et al (2023) Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers. Eur J Paediatr Neurol 43:36–43. https://doi.org/10.1016/j.ejpn.2023.02.004

Article  CAS  PubMed  Google Scholar 

Lenzoni S, Semenza C, Calligaro D et al (2022) Cognitive profiles and clinical factors in type III spinal muscular atrophy: a preliminary study. Neuromuscul Disord 32:672–677. https://doi.org/10.1016/j.nmd.2022.05.005

Article  PubMed  Google Scholar 

Hu Y, Wei L, Li A et al (2023) Cognitive impairment in Chinese adult patients with type III spinal muscular atrophy without disease-modifying treatment. Front Neurol 14:1226043. https://doi.org/10.3389/fneur.2023.1226043

Article  PubMed  PubMed Central  Google Scholar 

Kölbel H, Kopka M, Modler L et al (2024) Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening. J Neuromuscul Dis 11:143–151. https://doi.org/10.3233/JND-230136

Article  PubMed  PubMed Central  Google Scholar 

D’Angelo MG, Bresolin N (2006) Cognitive impairment in neuromuscular disorders. Muscle Nerve 34:16–33. https://doi.org/10.1002/mus.20535

Article  CAS  PubMed  Google Scholar 

Billard C, Gillet P, Barthez M-A et al (1998) Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy. Dev Med Child Neurol 40:12–20. https://doi.org/10.1111/j.1469-8749.1998.tb15351.x

Article  CAS  PubMed  Google Scholar 

Rivière J, Lécuyer R (2002) Spatial cognition in young children with spinal muscular atrophy. Dev Neuropsychol 21:273–283. https://doi.org/10.1207/S15326942DN2103_4

Article  PubMed