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Bibliografia - Proposta per un intervento riabilitativo integrato nella presa in carico del paziente con Atrofia Muscolare Spinale (SMA) I

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  1. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015 Feb;51(2):157–67.
  2. Russman BS. Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity. J Child Neurol. 2007 Aug 1;22(8):946–51.
  3. Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord. 1994 Settembre;4(5–6):497–502.
  4. Chung BHY, Wong VCN, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004 Nov;114(5):e548–53.
  5. Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil Assoc Acad Physiatr. 2007 May;86(5):339–45 quiz 346–8, 379.
  6. Park HB, Lee SM, Lee JS, Park MS, Park KI, Namgung R, et al. Survival analysis of spinal muscular atrophy type I. Korean J Pediatr. 2010;53(11):965.
  7. Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: Are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med. 2012 May;13(3):e161–5.
  8. Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest. 2004 Sep;126(3):831–7.
  9. Panitch HB. Respiratory Issues in the Management of Children With Neuromuscular Disease. Respir Care. 2006 Aug 1;51(8):885–95.
  10. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol. 2007 Aug 1;22(8):1027–49.
  11. Bach JR, Niranjan V, Weaver B. Spinal muscular atrophy type 1: A noninvasive respiratory management approach. Chest. 2000 Apr;117(4):1100–5.
  12. Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord NMD. 2009 Jan;19(1):69–73.
  13. Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord NMD. 1992;2(5-6):423–8.
  14. Dubowitz V. Chaos in the classification of SMA: a possible resolution. Neuromuscul Disord. 1995;5(1):3–5.
  15. Marina Cuttini, Lucilla Ravà, Eugenio Mercuri, Sonia Messina, Marika Pane, Chiara Mastella, et al. Clinical_factors_as_predictors_of_survival_in_SMA_type_I.pdf. Paediatr CHILD Health 1 [Internet]. 2007; Available from: http://www.famigliesma.org/images/documenti/sottoclassificazione_sma1/Clinical_factors_as_predictors_of_survival_in_SMA_type_I.pdf
  16. Bach JR. The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for. Paediatr Respir Rev. 2008 Mar;9(1):45–50; quiz 50; discussion 55–6.
  17. Societa Italiana di Medicina Fisica e Riabilitativa - S.I.M.F.E.R. LINEE-GUIDA PER LA RIABILITAZIONE DELLE MALATTIE NEUROMUSCOLARI INFANTILI DI ORIGINE GENETICA [Internet]. 2002 [cited 2015 Jul 14]. Available from: http://www.simfer.it/cont__64_171.phtml#171
  18. Bollettino Ufficiale Regione Piemonte. LINEE GUIDA PER LA VENTILAZIONE MECCANICA A PRESSIONE POSITIVA DOMICILIARE E LE DIMISSIONI PROTETTE DEL PAZIENTE PEDIATRICO CON INSUFFICIENZA RESPIRATORIA CRONICA [Internet]. Mar 3, 2005 p. 74. Available from: http://www.asamsi.org/pdf/lineeguidaresp2005_73254.pdf 
  19. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol. 2007 Aug 1;22(8):1027–49.
  20. LG SMA Bertini [Internet]. [cited 2015 Jul 14]. Available from: http://www.emedea.it/formazione/corsi_convegni/091008_cong_riab/bertini.pdf
  21. Consiglio dell’Unione Europea. RACCOMANDAZIONE DEL CONSIGLIO dell’8 giugno 2009 su un’azione nel settore delle malattie rare [Internet]. [cited 2015 Jul 14]. Available from: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:IT:PDF
  22. Chatwin M. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax. 2012 Jul;67 Suppl 1:1–40.
  23. Ministero della Salute. Piano Nazionale Malattie Rare 2013-2016 [Internet]. [cited 2015 Jul 14]. Available from: http://www.salute.gov.it/imgs/C_17_pubblicazioni_2153_allegato.pdf 
  24. Strickland SL, Rubin BK, Drescher GS, Haas CF, O’Malley CA, Volsko TA. AARC clinical practice guideline: effectiveness of nonpharmacologic airway clearance therapies in hospitalized patients. Respir Care. 2013 Dec 1;58(12):2187–93.
  25. Linee Guida Internazionali [Internet]. Treat-nmd. [cited 2015 Jul 14]. Available from: http://www.famigliesma.org/index.php?option=com_content&view=article&id=142&Itemid=579#.VQdVx-Fi2ne
  26. Treat-nmd. Linee diagnostiche e terapeutiche per i pazienti af fetti da atrofia muscolare spinale (spinal muscular atrophy, SMA) [Internet]. 2008 [cited 2015 Jul 16]. Available from: http://www.treat-nmd.eu/downloads/file/standardsofcare/sma/italian/sma_soc_it.pdf
  27. Steffensen B, Hyde S, Lyager S, Mattsson E. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int J Res Clin Phys Ther. 2001;6(3):119–34.
  28. Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger J, Riley S, et al. Validation of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011;23(4):322–6.
  29. Fujak A, Kopschina C, Forst R, Mueller LA, Forst J. Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. Disabil Rehabil Assist Technol. 2011;6(4):305–11.
  30. Russman BS. Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity. J Child Neurol. 2007 Aug 1;22(8):946–51.
  31. Marina Cuttini, Lucilla Ravà, Eugenio Mercuri, Sonia Messina, Marika Pane, Chiara Mastella, et al. Clinical factors as predictors of survival in spinal muscular atrophy type I - Clinical_factors_as_predictors_of_survival_in_SMA_type_I.pdf [Internet]. 2007 [cited 2015 Jul 14]. Available from: http://www.famigliesma.org/images/documenti/sottoclassificazione_sma1/Clinical_factors_as_predictors_of_survival_in_SMA_type_I.pdf
  32. Krosschell KJ, Maczulski JA, Scott C, King W, Hartman JT, Case LE, et al. Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I. Pediatr Phys Ther. 2013;25(2):140–8.
  33. Park HB, Lee SM, Lee JS, Park MS, Park KI, Namgung R, et al. Survival analysis of spinal muscular atrophy type I. Korean J Pediatr. 2010;53(11):965.
  34. Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R. Spinal muscular atrophy type 1: are proactive respiratory interventions associated with longer survival? Pediatr Crit Care Med. 2012 May;13(3):161–5.
  35. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015 Feb;51(2):157–67.
  36. Hicks CL, von Baeyer CL, Spafford P, van Korlaar I, Goodenough B. The Faces Pain Scale - Revised: Toward a common metric in paediatric pain measurement. Pain. 2001;93:173–83.
  37. Antonella Pini, Alessandro Ghezzo. Dopo la diagnosi, Il monitoraggio delle malattie neuromuscolari ad esordio in età evolutiva. prima. Bologna: alberto perdisa editore-Airplane S.r.l.; 2007. 122 p.
  38. Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D’Anjou G, et al. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol. 2007 Aug;22(8):957–66.
  39. Bush A, Fraser J, Jardine E, Paton J, Simonds A, Wallis C. Respiratory management of the infant with type 1 spinal muscular atrophy. Arch Child. 2005 Jul;90(7).
  40. Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest. 2004 Sep;126(3):831–7.
  41. Panitch HB. Respiratory Issues in the Management of Children With Neuromuscular Disease. Respir Care. 2006 Aug 1;51(8):885–95.
  42. Cuisset J-M, Estournet B, French Ministry of Health. Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. Rev Neurol. 2012 Dec;168(12):902–9.
  43. Bach JR, Niranjan V, Weaver B. Spinal muscular atrophy type 1: A noninvasive respiratory management approach. Chest. 2000 Apr;117(4):1100–5.
  44. Markowitz JA, Tinkle MB, Fischbeck KH. Spinal muscular atrophy in the neonate. J Obstet Gynecol Neonatal Nurs. 2004 Feb;33(1):12–20.
  45. Jones MA, McEwen IR, Hansen L. Use of power mobility for a young child with spinal muscular atrophy. Phys Ther. 2003 Mar 1;83(3):253–62.
  46. Chiara Mastella, Giancarlo Ottonello. SMA 1 abita con noi, Vademecum per una sostenibile vita quotidiana a casa. prima. Milano: Print Lab S.r.l - Spazio aperto S.c.a.r.l.; 2009.
  47. Gregoretti C, Ottonello G, Chiarini Testa MB, Mastella C, Ravà L, Bignamini E, et al. Survival of patients with spinal muscular atrophy type 1. Pediatrics. 2013 May;131(5):1509–14.
  48. Bach JR. The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for. Paediatr Respir Rev. 2008 Mar;9(1).
  49. Bach JR. are other ways to manage spinal muscular atrophy type 1. Chest. 2005 Apr;127(4):1463–4.
  50. Tom L. Beauchamp, James S. Childress. Principi di etica biomedica. prima edizione. Le Lettere; 1979.
  51. Maurizio Mori. Manuale di Bioetica. Verso una civiltà biomedica secolarizzata. Le Lettere; 2013.
  52. Ottonello G, Mastella C, Franceschi A, Bosticco D, Wolfler A, Pedemonte M, et al. Spinal muscular atrophy type 1: avoidance of hospitalization by respiratory muscle support. Am J Phys Med Rehabil. 2011 Nov;90(11):895–900.
  53. Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Child. 2011 May;96(5):426–32.
  54. Miske LJ, Hickey EM, Kolb SM, Weiner DJ, Panitch HB. Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough. Chest. 2004 Apr;125(4):1406–12.
  55. Bach JR. Mechanical insufflation-exsufflation. Comparison of peak expiratory flows with manually assisted and unassisted coughing techniques. Chest. 1993 Nov;104(5):1553–62.
  56. Chatwin M, Ross E, Hart N, Nickol AH, Polkey MI, Simonds AK. Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness. Eur Respir J. 2003 Mar;21(3).
  57. Bach JR, Mahajan K, Lipa B, Saporito L, Goncalves M, Komaroff E. Lung insufflation capacity in neuromuscular disease. Am J Phys Med Rehabil. 2008 Sep;87(9):720–5.
  58. Bach JR, Tuccio MC, Khan U, Saporito LR. Vital capacity in spinal muscular atrophy. Am J Phys Med Rehabil. 2012 Jun;91(6):487–93.
  59. Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D’Anjou G, et al. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol. 2007 Aug;22(8):957–66.
  60. Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset J-M, Sukno S, et al. Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods. Arch Pediatr. 2014 Apr;21(4):347–54.
  61. Bush A, Fraser J, Jardine E, Paton J, Simonds A, Wallis C. Respiratory management of the infant with type 1 spinal muscular atrophy. Arch Dis Child. 2005 Jul;90(7):709–11.
  62. Daniela Bazzano, Marco Ravizzotti, Danila Siravegna, Roberto Rigardetto. La Cartella Didattica Neuropsicomotoria: uno strumento operativo per l’apprendimento professionale. Psichiatr Dellinfanzia E Delladolescenza. 2007;74(3):591–608.
  63. G Ottonello CM. Parental role in the Intensive Care Unit for children affected by Werdnig Hoffmann disease. Minerva Pediatr. 2010;62(2):147–51.

 

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PREMESSA, ABSTRACT E INTRODUZIONE: Background e obiettivo; Strumenti e metodi; Struttura dell’elaborato
 

Capitolo 1

Capitolo 2

Capitolo 3 
 
DISCUSSIONE e CONCLUSIONI
 
BIBLIOGRAFIA
 
Allegati
 

Tesi di Laurea di: Sabrina RAPELLO
 

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