The changing natural history of spinal muscular atrophy type 1

@article{Oskoui2007TheCN,
  title={The changing natural history of spinal muscular atrophy type 1},
  author={Maryam Oskoui and Gilberto Levy and Connie Garland and Jennifer M. Gray and Jessica M. O’Hagen and Darryl C De Vivo and Petra Kaufmann},
  journal={Neurology},
  year={2007},
  volume={69},
  pages={1931 - 1936}
}
Background: Noninvasive ventilation has become increasingly available to spinal muscular atrophy (SMA) patients since the early 1990s. 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… 

Tables from this paper

Survival analysis of spinal muscular atrophy type I
TLDR
The survival probabilities at 2 years were far greater than expected and the contribution of improved supportive care on longer survival could not be clarified; this may be elucidated in larger cohort studies.
Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children.
TLDR
This series provides valuable information on respiratory intervention requirements and life expectancy in children with SMA1 before the implementation of novel treatments that increase the expression of the SMA protein.
Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
TLDR
Patients with SMA of all ages, including adults and type III patients, had a higher all-cause mortality rate as compared to age-matched controls during the pre-treatment era, and age-specific mortality rates for cases consistently exceeded those of controls.
Observational study of spinal muscular atrophy type I and implications for clinical trials
TLDR
Infants with SMA-I can be effectively enrolled and retained in a 12-month natural history study until a majority reach the combined endpoint of death, and these outcome data can be used for clinical trial design.
Spinal Muscular Atrophy Type I
TLDR
How autonomy, beneficence/non-maleficence, noncoercion, social benefit, and equipoise can be maintained when a predefined level of supportive care is proposed, for participation in a clinical trial is discussed.
Prognostic Factors and Treatment‐Effect Modifiers in Spinal Muscular Atrophy
TLDR
Factors identified in this review should be considered prior to designing or analyzing studies in an SMA population, conducting population matching, or summarizing results from different studies on the treatments for SMA.
Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1
  • M. Cho
  • Medicine
    Kosin Medical Journal
  • 2019
TLDR
There is lack of information neither about incidence nor regarding cardiovascular complications associated with SMA type 1, however, owing to advances in management of chronic respiratory insufficiency, several cases about long-term survivors up to about 24 months have been reported.
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.
TLDR
The results confirm previous clinical reports suggesting that SMA types 2 and 3 represent chronic phenotypes that have relatively stable clinical courses, suggesting that clinical trials will have to be designed to measure improvement rather than stabilization of disease progression.
Physician driven variation in the care of children with spinal muscular atrophy type 1
TLDR
Physician knowledge, opinions, subjective perception of child happiness, and regional factors, all influence physicians’ practices and the shared decision‐making process for SMA1 care in Canada.
...
...

References

SHOWING 1-10 OF 19 REFERENCES
Spinal Muscular Atrophy: Survival Pattern and Functional Status
TLDR
The age of disease onset is defined as the age in which the first abnormalities were obvious from the medical records or from the descriptions of the parents about the first signs of weakness, eg, age of achievement of certain motor milestones or loss of functions.
The natural history of type I (severe) spinal muscular atrophy
Respiratory capacity course in patients with infantile spinal muscular atrophy.
TLDR
This data shows the progressively worsening course of restrictive respiratory insufficiency in patients with SMA, and the importance of early respiratory management to limit pulmonary complications and improve the quality of life for these patients.
Spinal muscular atrophy type 1: A noninvasive respiratory management approach.
TLDR
Although intercurrent chest colds may necessitate periods of hospitalization and intubation, tracheostomy can be avoided throughout early childhood for some children with SMA type 1.
Prevalence of type I spinal muscular atrophy in North Dakota.
TLDR
In North Dakota, type I spinal muscular atrophy appears to be 3 to 10 times more common than in other locations and has a carrier frequency of 1 in 41 in North Dakota with a gene frequency of 0.0122.
Spinal muscular atrophy type 1: Management and outcomes
Our objectives were to describe survival, hospitalization, speech, and outcomes related to respirator needs for spinal muscular atrophy type 1 (SMA1) patients, using noninvasive or tracheostomy
Infantile muscular atrophy.
TLDR
The purpose of the present article is to call attention to the wide spectrum of its onset and severity and to correlate these features with the pathological changes.
Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach
TLDR
The Second Edition of the definitive reference on neuromuscular disorders in infancy, childhood and adolescence is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists.
Home ventilation.
  • J. Shneerson
  • Medicine
    British journal of hospital medicine
  • 1991
Home ventilation has become practical recently because of improvements in the equipment available to support respiration in the long term. It is especially effective in neuromuscular and skeletal
...
...