Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3

Khirani, Sonia; Colella, Marina Pereira; Caldarelli, Valeria; Aubertin, Guillaume; Boulé, Michèle; Forin, V.; Ramirez, Adriana; Fauroux, Brigitte

doi:10.1016/j.ejpn.2013.04.004

Cited by 65 publications

(52 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, when they extended their follow-up to 48 months, they observed a slow decline in pulmonary function in both groups; as expected, respiratory function of SMA II patients progressed more than that of SMA III patients [39]. In a recent small longitudinal study performed in 7 SMA II patients and in 9 SMA III the authors compared lung function, blood gases, respiratory mechanisms and muscle strength with recordings of oesophago-gastric pressures [40]. They confirmed that patients affected by SMA III have a later decline in lung and respiratory muscle function compared to SMA II patients, as assessed not only by forced vital capcity (FVC) but also by sniff nasal pressure (SNIP).…”

Section: Smamentioning

confidence: 86%

1st Italian SMA Family Association Consensus Meeting:

Sansone

Racca

Ottonello³

et al. 2015

Neuromuscular Disorders

View full text Add to dashboard Cite

Section: Smamentioning

confidence: 86%

1st Italian SMA Family Association Consensus Meeting:

Sansone

Racca

Ottonello³

et al. 2015

Neuromuscular Disorders

View full text Add to dashboard Cite

“…Since the early childhood, in SMA1 and SMA2 spirometric indexes are reduced and show a relatively slow rate of decline, eventually worsened by scoliosis[23–28]. Cough is inefficient and requires assistance since the first years of life[29–31].…”

Section: Introductionmentioning

confidence: 99%

Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA)

et al. 2016

View full text Add to dashboard Cite

IntroductionSMA is characterised by progressive motor and respiratory muscle weakness. We aimed to verify if in SMA children 1)each form is characterized by specific ventilatory and thoraco-abdominal pattern(VTAp) during quiet breathing(QB); 2)VTAp is affected by salbutamol therapy, currently suggested as standard treatment, or by the natural history(NH) of SMA; 3)the severity of global motor impairment linearly correlates with VTAp.Materials and methodsVTAp was analysed on 32 SMA type I (SMA1,the most severe form), 51 type II (SMA2,the moderate), 8 type III (SMA3,the mildest) and 20 healthy (HC) using opto-electronic plethysmography. Spirometry, cough and motor function were measured in a subgroup of patients.ResultsIn SMA1, a normal ventilation is obtained in supine position by rapid and shallow breathing with paradoxical ribcage motion. In SMA2, ventilation is within a normal range in seated position due to an increased respiratory rate(p<0.05) with reduced tidal volume(p<0.05) secondary to a poor contribution of pulmonary ribcage(%ΔVRC,P, p<0.001). Salbutamol therapy had no effect on VTAp during QB(p>0.05) while tachypnea occurred in type I NH. A linear correlation(p<0.001) was found between motor function scales and VTAp.ConclusionA negative or reduced %ΔVRC,P, indicative of ribcage muscle weakness, is a distinctive feature of SMA1 and SMA2 since infancy. Its quantitative assessment represents a non-invasive, non-volitional index that can be obtained in all children, even uncollaborative, and provides useful information on the action of ribcage muscles that are known to be affected by the disease.Low values of motor function scales indicate impairment of motor but also of respiratory function.

show abstract

“…A similar study performed in a small group of children with SMA showed that the rate of progression of inspiratory and expiratory muscle weakness was similar among patients with SMA types 2 and 3, but that the decline started at a signifi cantly earlier age in patients with SMA type 2 as compared with those with SMA type 3. 39 Th is is quite diff erent from what was observed in patients with collagen VI-related myopathies in whom a very large multicenter study showed both a signifi cantly earlier and steeper decline in FVC in patients with the Ullrich phenotype as compared with the Bethlem myopathy, with patients with an intermediate clinical phenotype having an intermediate course. 52 In conclusion, measuring lung function and respiratory muscle function integrating the Pes and Pgas may add important information on the disease evolution according to the different phenotypes.…”

Section: Understanding the Natural History Of A Diseasementioning

confidence: 57%

“…However, thin catheters (2.1-mm external diameter) are available and well tolerated even by the youngest children. 7,12,27,29,[37][38][39] Th e analysis of the esophageal (Pes) and gastric pressures (Pgas) during spontaneous breathing can be very helpful in children with NMD. 7 Indeed, the measurement of the ratio of the change in Pgas ( D Pgas) to the Pes change ( D Pes) refl ects the relative contribution of the diaphragm and the other respiratory muscles to quiet breathing.…”

Section: Invasive Testsmentioning

confidence: 99%