Survival Probabilities of Patients With Childhood Spinal Muscle Atrophy

Mannaa, Mohannad; Kalra, Maninder; Wong, Brenda; Cohen, Aliza P.; Amin, Raouf S.

doi:10.1097/cnd.0b013e318190310f

Cited by 42 publications

(30 citation statements)

References 11 publications

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“…Similarly to our study, all of the patients in this study died of respiratory failure or invasive pulmonary infection [6]. In a study by Mammaa et al, the average lifespan of SMA type 1 patients born between 1995 and 2006 is shown to be longer than that of those born between 1980 and 1994, which the authors connect to the increase in use of noninvasive ventilation in SMA patients in the early 1990s [8]. The study by Cobben et al attributes the increase in life expectancy after 1995 to the fact that the medical approach to SMA type 1 patients varies from country to country.…”

Section: Discussionsupporting

confidence: 69%

“…In our study, none of the patients were on home ventilatory support, and only one relied on gastrostomy tube feeding. In their study, Mannaa et al found the probability of their eight SMA type 1 patients living for 2, 4, and 10 years to be 62%, 62%, and 8%, respectively and linked the increasing lifespan of SMA patients to the increase in respiratory and nutritional support possibilities [8]. Management of these patients with respiratory physiotherapy including assisted cough and chest percussion is showed to limit the risk of respiratory distress requiring invasive mechanical ventilation [7].…”

Section: Discussionmentioning

confidence: 97%

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

et al. 2011

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Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 97%

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

et al. 2011

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“…Appropriate nutritional management of SMA patients is critical for improving quality of life and optimizing survival,29 although no clear consensus exists on the timing of initiation of nutritional support.…”

Section: Clinical Carementioning

confidence: 99%

Emerging therapies and challenges in spinal muscular atrophy

Farrar

Park

Vucic

et al. 2017

Annals of Neurology

194

170

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Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I) to limited motor neuron loss and normal life expectancy (type IV). Without disease‐modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, natural history, and recognition of the impact of standardized care on outcomes has yielded progress toward the development of novel therapeutic strategies and are summarized. Therapeutic strategies in the pipeline are appraised, ranging from SMN1 gene replacement to modulation of SMN2 encoded transcripts, to neuroprotection, to an expanding repertoire of peripheral targets, including muscle. With the advent of preliminary trial data, it can be reasonably anticipated that the SMA treatment landscape will transform significantly. Advancement in presymptomatic diagnosis and screening programs will be critical, with pilot newborn screening studies underway to facilitate preclinical diagnosis. The development of disease‐modifying therapies will necessitate monitoring programs to determine the long‐term impact, careful evaluation of combined treatments, and further acceleration of improvements in supportive care. In advance of upcoming clinical trial results, we consider the challenges and controversies related to the implementation of novel therapies for all patients and set the scene as the field prepares to enter an era of novel therapies. Ann Neurol 2017;81:355–368

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“…Accordingly, many SMA patients had nonmucocutaneous candidiasis, which usually only occurs in immunodeficient individuals 25. Moreover, pulmonary infection, especially pneumonia, appears to be a common feature of SMA patients 26, 27, 28, 29, 30. Decreased respiratory efficiency and stasis of secretions can increase risk of infections 29, 31.…”

Section: Potential Functional Consequences Of Lymphoid Organ Defects mentioning

confidence: 99%

“…Moreover, pulmonary infection, especially pneumonia, appears to be a common feature of SMA patients 26, 27, 28, 29, 30. Decreased respiratory efficiency and stasis of secretions can increase risk of infections 29, 31. For this reason, superimposed immunodeficiency has not previously been considered as contributory to the disease etiology but may indeed play a major role in the presentation of chronic pulmonary infection in SMA patients.…”

Section: Potential Functional Consequences Of Lymphoid Organ Defects mentioning

confidence: 99%

New insights into SMA pathogenesis: immune dysfunction and neuroinflammation

Deguise

Kothary

2017

Ann Clin Transl Neurol

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Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by motor neuron degeneration, although defects in multiple cell types and tissues have also been implicated. Three independent laboratories recently identified immune organ defects in SMA. We therefore propose a novel pathogenic mechanism contributory to SMA, resulting in higher susceptibility to infection and exacerbated disease progression caused by neuroinflammation. Overall, compromised immune function could significantly affect survival and quality of life of SMA patients. We highlight the recent findings in immune organ defects, their potential consequences on patients, our understanding of neuroinflammation in SMA, and new research hypotheses in SMA pathogenesis.

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Survival Probabilities of Patients With Childhood Spinal Muscle Atrophy

Abstract: We found a positive trend in the survival of patients with severe SMA. Although we cannot attribute this trend to any single factor, it is likely that advances in pulmonary care and aggressive nutritional support have played a significant role.

Cited by 42 publications

References 11 publications

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

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

Emerging therapies and challenges in spinal muscular atrophy

New insights into SMA pathogenesis: immune dysfunction and neuroinflammation

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