Literature DB >> 17998484

The changing natural history of spinal muscular atrophy type 1.

M Oskoui1, G Levy, C J Garland, J M Gray, J O'Hagen, D C De Vivo, P Kaufmann.   

Abstract

BACKGROUND: Noninvasive ventilation has become increasingly available to spinal muscular atrophy (SMA) patients since the early 1990 s. This is expected to have improved survival for SMA type 1 patients.
OBJECTIVE: To assess whether there has been a change in survival in patients with SMA type 1 between 1980 and 2006.
METHODS: We used deidentified, family-reported data from participants in the International Spinal Muscular Atrophy Patient Registry and obtained additional clinical information through a mail-in questionnaire. One hundred forty-three patients with SMA type 1 were included in the analysis. Survival of patients born in 1995-2006 (n = 78) was compared with that of patients born in 1980-1994 (n = 65), using the Kaplan-Meier method and Cox proportional hazards models with age at death as the outcome.
RESULTS: Patients born in 1995 though 2006 had significantly increased survival compared with those born in 1980-1994 (log-rank test, p < 0.001). In a Cox model, patients born in 1995-2006 had a 70% reduction in the risk of death compared with those born in 1980-1994 (hazard ratio [HR] 0.3, 95% CI 0.2-0.5, p < 0.001) over a mean follow-up of 49.9 months (SD 61.1, median 22.0). However, when controlling for demographic and clinical care variables, year of birth was no longer significantly associated with age at death (HR 1.0, 95% CI 0.6-1.8, p = 0.9), whereas ventilation for more than 16 h/d, use of a mechanical insufflation-exsufflation device, and gastrostomy tube feeding showed a significant effect in reducing the risk of death.
CONCLUSION: Survival in spinal muscular atrophy type 1 patients has increased in recent years, in relation to the growing trend toward more proactive clinical care.

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Year:  2007        PMID: 17998484     DOI: 10.1212/01.wnl.0000290830.40544.b9

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  72 in total

1.  Demographic characteristics of SMA type 1 patients at a tertiary center in Turkey.

Authors:  Barış Ekici; Betül Bozkurt; Burak Tatlı; Mine Calışkan; Nur Aydınlı; Meral Ozmen
Journal:  Eur J Pediatr       Date:  2011-10-21       Impact factor: 3.183

2.  The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module.

Authors:  Susan T Iannaccone; Linda S Hynan; Anne Morton; Renee Buchanan; Christine A Limbers; James W Varni
Journal:  Neuromuscul Disord       Date:  2009-10-28       Impact factor: 4.296

3.  The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy.

Authors:  Constantin d'Ydewalle; Daniel M Ramos; Noah J Pyles; Shi-Yan Ng; Mariusz Gorz; Celeste M Pilato; Karen Ling; Lingling Kong; Amanda J Ward; Lee L Rubin; Frank Rigo; C Frank Bennett; Charlotte J Sumner
Journal:  Neuron       Date:  2016-12-22       Impact factor: 17.173

Review 4.  Spinal Muscular Atrophy.

Authors:  Stephen J Kolb; John T Kissel
Journal:  Neurol Clin       Date:  2015-11       Impact factor: 3.806

5.  Cost Effectiveness of Nusinersen in the Treatment of Patients with Infantile-Onset and Later-Onset Spinal Muscular Atrophy in Sweden.

Authors:  Santiago Zuluaga-Sanchez; Megan Teynor; Christopher Knight; Robin Thompson; Thomas Lundqvist; Mats Ekelund; Annabelle Forsmark; Adrian D Vickers; Andrew Lloyd
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6.  Natural history of infantile-onset spinal muscular atrophy.

Authors:  Stephen J Kolb; Christopher S Coffey; Jon W Yankey; Kristin Krosschell; W David Arnold; Seward B Rutkove; Kathryn J Swoboda; Sandra P Reyna; Ai Sakonju; Basil T Darras; Richard Shell; Nancy Kuntz; Diana Castro; Julie Parsons; Anne M Connolly; Claudia A Chiriboga; Craig McDonald; W Bryan Burnette; Klaus Werner; Mathula Thangarajh; Perry B Shieh; Erika Finanger; Merit E Cudkowicz; Michelle M McGovern; D Elizabeth McNeil; Richard Finkel; Susan T Iannaccone; Edward Kaye; Allison Kingsley; Samantha R Renusch; Vicki L McGovern; Xueqian Wang; Phillip G Zaworski; Thomas W Prior; Arthur H M Burghes; Amy Bartlett; John T Kissel
Journal:  Ann Neurol       Date:  2017-12-08       Impact factor: 10.422

7.  Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings.

Authors:  Rebecca Hurst Davis; Barbara J Godshall; Erin Seffrood; Mary Marcus; Bernard A LaSalle; Brenda Wong; Mary K Schroth; Kathryn J Swoboda
Journal:  J Child Neurol       Date:  2013-10-04       Impact factor: 1.987

8.  SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

Authors:  Ahmet Cevdet Ceylan; Haktan Bağış Erdem; İbrahim Şahin; Meenal Agarwal
Journal:  Neurol Sci       Date:  2020-04-06       Impact factor: 3.307

9.  Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy.

Authors:  Tristan H Coady; Christian L Lorson
Journal:  J Neurosci       Date:  2010-01-06       Impact factor: 6.167

Review 10.  Spinal muscular atrophy: journeying from bench to bedside.

Authors:  Tomoyuki Awano; Jeong-Ki Kim; Umrao R Monani
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

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