Abstract
The natural history of SMA and the identification of predictive criteria of functional development are still a matter of discussion.
This prospective study involved 20 children with SMA, aged between 3.10 and 15.7 years. The patients were followed from 1979 to 1992 in order to try to develop a greater understanding of the natural history of SMA at a very early age.
A standardized protocol was used at regular intervals to assess parameters such as joint contractures, scoliosis and the milestones of gross motor functions.
Our findings agree with the data in the literature concerning the early and generalized onset of joint contractures and scoliosis.
A significant correlation was found between the level of acquired gross motor functions and walking with support. The acquisition of rolling by 5 years of age was the milestone that best correlated with the acquisition of walking with crutches and braces; furthermore the inability to roll seemed to correlate with the severity of the disease. These findings should be useful in planning a more rational rehabilitation program.
Sommario
È stato condotto uno studio prospettico su 20 bambini affetti da SMA di età compresa tra 3.10 e 15.7 anni. I pazienti sono stati seguiti dal 1979 al 1992 utilizzando a intervalli regolari un protocollo di valutazione standardizzato che permette di valutare diversi parametri quali: la presenza di limitazioni articolari, di scoliosi e i parametri di funzionalità motoria.
I risultati ottenuti sono in accordo con i dati della letteratura per quanto concerne l'insorgenza precoce di retrazioni articolari e di scoliosi.
Una correlazione significativa, è stata rilevata nei nostri pazienti, tra il livello neurofunzionale raggiunto e l'acquisizione del cammino con sostegno. In particolare l'acquisizione del rotolamento entro i 5 anni di vita sembra essere correlato con la successiva acquisizione del cammino assistito, mentre la non acquisizione di tale funzione, nel nostro campione, correla con una prognosi più severa. Tale dato è pertanto importante anche nella formulazione del programma riabilitativo che deve considerare sia l'indice di gravità che la prognosi.
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References
Benady S.G.:Spinal muscular atrophy in childhood: review of 50 cases. Dev. Med. Child. Neurol., 20:746–757, 1978.
Besana D., Carboni P., Gemma A., Perniola T., Veneselli E., Lanzi G.:Protocollo per lo studio clinico-funzionale delle Atrofie Muscolari Spinali in età evolutiva. Giornale di Neuropsichiatria Infantile, 10: 55–67, 1990.
Brzustowicz L.M., Lehner T., Castilla L.H., Penchaszadeh G.H., Wilhelsen K.C., Daniels R., Davies K.E., Leppert M., Ziter F., Wood D. et al:Genetic mapping of chronic childhood-onset spinal muscolar atrophy mapping to chromosome 5q 11.2.13.3. Nature, 334: 540–1, 1990 (Letter).
Bundey S., Lovelace R.E.:A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain, 98: 455–472, 1975.
Byers R.K., Banker B.Q.:Infantile muscular athrophy. Arch. Neurol., 5: 140–164, 1961.
Dubowitz V.:Infantile muscular atrophy. Brain, 87: 707–718, 1964.
Dubowitz V.:Benign infantile spinal muscular atrophy. Dev. Med. Child Neurol. 16: 672–675, 1974.
Dubowitz V.:Muscle disorders in childhood. Philadelphia: Saunders, 1978.
Emery A.E.H., Hausmanowa-Petrusewicz I, Davie A.M., Holloway S., Skinner R., Borkowska J:International collaborative study of the Spinal Muscular Atrophies. Part 2. J. Neurol. Sci. 5, 121–158, 1976.
Emery A.E.H.:Population frequencies of inherited neuromuscular diseases. A world survey. Neuromusc. Dis., 1: 19–29, 1991.
Fischbeck K., Ionasescu V., Ritter A.W., Ionasescu R., Davies K., Ball S., Bosch P., Burns T., Hausmanowa-Petrusewicz I., Barkowska J. et al.:Localization of the gene for X-linked spinal muscular atrophy. Neurology, 36: 1595–1598, 1986.
Granata C., Cornelio F., Bonfiglioli S., Mattutini P., Merlini L.:Promotion of ambulation of patients with spinal muscular atrophy by early fitting of knee-ankle-foot orthoses. Dev. Med. Child Neurol., 29: 221–224, 1987.
Greenfield J.G., Stern R.O.:The anatomical identity of the Werdnig-Hoffman and Oppenheim forms of infantile muscular atrophy. Brain, 50: 652–86, 1927.
Hausmanowa-Petrusewicz I., Fidzianska A., Niebroj-dobosz I., Strugalska M.H.:Is Kugelberg-Welander spinal muscular atrophy a fetal defect? Muscle Nerve, 3: 389–402, 1980.
Iannacone S.T., Browne R.H., Samaha F.J., Buncher C.R., DCN/SMA:Group Prospective study of spinal muscular atrophy before age 6 years. Pediatric Neurology, Vol. 9, No 6, 187–193, 1993.
Melky J., Abdelhak S., Sheth P., Bachelot M.F., Burlet P., Marcadet A., Aicardi J., Barois A., Carriere J.P., Fardeau M., et al:Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature, 344: 767–768, 1990 (Letter).
Melky J., Sheth P., Abdelhak S., Burlet P., Bachelot M.F., Lathrop M.G., Frezal J., Munnich A., andThe French Spinal Muscular Atrophy Investigators:Mapping of acute (type 1) spinal muscular atrophy to chromosome 5q12–q14. Lancet, 336: 271–273, 1990.
Merlini L., Granata C., Bonfiglioli S., Marini M.L., Cervellati S., Savini R.:Scoliosis in spinal muscular atrophy: natural history and management. Dev. Med. Child Neurol, 31: 501–508, 1989.
Mostacciuolo M.L., Danieli G.A., Trevisan C., Mueller E., Angelini C.:Epidemiology of spinal muscular atrophies in a sample of the Italian population. Neuroepidemiology, 11: 34–38, 1992.
Munstat T.L., Skerry L., Korf B., Pober B., Shapira Y., Gascon G.G., Al-Rajeh S.M., Dubowitz V., Davies K., Brzustowicz L.M., Penchaszadeh G.K., Gilliam T.C.:Phenotypic heterogeneity of spinal muscular atrophy mapping to Chromosome 5q11.2.–13.3 (SMA 5q). Neurology 40: 1831–1836, 1990.
Oleari G., Ricci N., Bono R., Fedrizzi E.:Esperienze di riabilitazione nelle forme precoci di atrofia muscolare neurogena. Saggi di Neuropsicologia Infantile, 2: 17–25, 1985.
Pearn J.H.:Classification of spinal muscular atrophies. Lancet, 26: 219–222, 1980.
Russman B.S., Melchreit R., Drennan J.C.:Spinal muscular atrophy: the natural course of the disease. Muscle Nerve, 6: 179–181, 1983.
Russman B.S., Iannacone S.T., Buncher C.R., Samaha F.J., Whitw M., Perkins B., Zimmerman L., Smith C., Burthans K., Barker L.:Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema. J. Child Neurol., 7: 347–353, 1992.
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Bono, R., Inverno, M., Botteon, G. et al. Prospective study of gross motor development in children with SMA Type II. Ital J Neuro Sci 16, 223–230 (1995). https://doi.org/10.1007/BF02282993
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DOI: https://doi.org/10.1007/BF02282993