Patterns and predictors of sleep disordered breathing in primary myopathies

Ragette, R.

doi:10.1136/thorax.57.8.724

Cited by 236 publications

(172 citation statements)

References 19 publications

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“…Home mechanical ventilation in subjects with DMD is usually initiated at the threshold FVC of 25% of predicted. 31 In our cohort, all subjects on noninvasive ventilation had LCI elevation. Age was significantly and positively correlated with LCI, reflecting the advanced disease state of lung volume decline in subjects with DMD, as LCI is known to decrease with age and height.…”

Section: Discussionmentioning

confidence: 83%

Decline in Lung Volume With Duchenne Muscular Dystrophy Is Associated With Ventilation Inhomogeneity

Stehling¹,

Dohna-Schwake

Mellies³

et al. 2015

Respir Care

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BACKGROUND: Advanced stages of Duchenne muscular dystrophy (DMD) result in severe lung volume decline and are associated with high respiratory morbidity and mortality. The aim of this study was to investigate whether lung volume decline in subjects with DMD is associated with ventilation inhomogeneity measured with the multiple-breath washout technique. METHODS: This cross-sectional study of lung function included 45 subjects with DMD and 16 healthy controls using multiple-breath washout, spirometry, and cough peak flow. RESULTS: Subjects with DMD exhibited an elevated lung clearance index (> 7.0) defined as the cumulative exhaled volume divided by the functional residual capacity to lower the sulfur hexafluoride concentration below 2.5% compared with controls (8.16 ؎ 2.55 vs 6.23 ؎ 0.46, P < .001). Lung clearance index elevation was negatively correlated with vital capacity (% predicted: r ‫؍‬ ؊0.79, P < .001) and cough peak flow (L/min: r ‫؍‬ ؊0.41, P ‫؍‬ .005). Furthermore, dead-space ventilation (dead-space-to-tidal-volume ratio) and functional residual capacity showed a positive correlation with lung clearance index elevation (r ‫؍‬ 0.81 and 0.48, P < .001). An FVC of < 24% predicted lung clearance index elevation with a sensitivity of 96% and a specificity of 80%. CONCLUSIONS: Moderate-to-severe lung volume decline in subjects with DMD is associated with ventilation inhomogeneity. Lung clearance index elevation may be the result of altered ventilation geometry or retention of airway secretions in the infection-free DMD subject.

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Section: Discussionmentioning

confidence: 83%

Decline in Lung Volume With Duchenne Muscular Dystrophy Is Associated With Ventilation Inhomogeneity

Stehling¹,

Dohna-Schwake

Mellies³

et al. 2015

Respir Care

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“…Diaphragm weakness is associated with unfavourable mechanical changes [23] associated with posture [9,24,25]. Patients with diaphragm paralysis develop breathlessness with immersion in water [26].…”

Section: Development Of the Questionnairementioning

confidence: 99%

“…Patients with diaphragm paralysis develop breathlessness with immersion in water [26]. The greater the fall in vital capacity when supine, the more likely it is that patients develop SDB [25].…”

Section: Development Of the Questionnairementioning

confidence: 99%

Screening for sleep-disordered breathing in neuromuscular disease using a questionnaire for symptoms associated with diaphragm paralysis

Steier¹,

Jolley²,

Seymour³

et al. 2010

Eur Respir J

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Patients with neuromuscular disease (NMD) are at risk of developing sleepdisordered breathing (SDB) following respiratory muscle involvement. We hypothesised that a questionnaire based on clinical symptoms and signs of diaphragm weakness can be used to screen for SDB in such patients.We developed a self-administered multiple choice questionnaire containing five questions (Sleep-Disordered Breathing in Neuromuscular Disease Questionnaire (SiNQ)-5), scoring 0-10 points. 125 patients were enrolled: 32 with respiratory muscle weakness, 35 subjects with normal respiratory muscle strength and 58 patients with obstructive sleep apnoea (OSA). All subjects underwent full polysomnography.NMD patients with involvement of the respiratory muscles scored mean¡SD 6.8¡2.3 out of 10 points, significantly higher than both OSA patients 2.5¡2.3 and normal subjects 1.0¡2.0 (p,0.001). A score of five or more points in the SiNQ-5 had a sensitivity of 86.2%, specificity of 88.5%, positive predictive value of 69.4% and a negative predictive value of 95.5% to identify NMD with combined SDB.A short self-administered questionnaire, the SiNQ-5, based on clinical symptoms can reliably screen for SDB in patients with diaphragm weakness. However, comorbidities, such as heart failure, that have symptoms influenced by posture could alter diagnostic accuracy.

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“…A escoliose está presente em praticamente todos os pacientes e se acentua após a perda da deambulação, contribuindo bastante para a redução da capacidade vital respiratória 11 . As fraturas de ossos longos ocorrem geralmente devido à queda em 21-44% dos meninos [12][13][14] .…”

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Mental retardation in Duchenne muscular dystrophy

2012

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Objective: To survey the medical literature directed to the study of cognitive dysfunction in patients with Duchenne muscular dystrophy through description of the milestones of neurological development and psychometric tests for quantifying intelligence. Sources:Non-systematic review of aspects of cognition in Duchenne muscular dystrophy in the major medical scientific bases: MEDLINE, LILACS, SciELO and Cochrane Library. Summary of the findings:Patients with Duchenne muscular dystrophy exhibited delay in walking and language development, which correlated with lower scores on future intelligence tests. There is marked impairment in the verbal subtests. Conclusions:Average IQ has standard deviation below the average of the population. The greater the cognitive impairment, the worse aspects related to morbidity and mortality in the disease will be.J Pediatr (Rio J). 2012;88(1):6-16: Duchenne muscular dystrophy, mental retardation, delay milestones, neurological development delay. ResumoObjetivo: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para quantificação da inteligência. Fontes dos dados:Revisão não sistemática sobre os aspectos da cognição na distrofia muscular de Duchenne nas principais bases médicas científicas: MEDLINE, LILACS, Biblioteca Cochrane e SciELO. Síntese dos dados:Os pacientes com distrofia muscular de Duchenne apresentaram atraso para marcha e desenvolvimento da linguagem, os quais se correlacionaram a menores pontuações nos testes de inteligência no futuro. Há marcante disfunção nos subtestes das habilidades verbais. Conclusões:A média do coeficiente de inteligência encontra-se com um desvio padrão abaixo da média populacional. Quanto maior a disfunção cognitiva, piores serão os aspectos relacionados à morbidade e mortalidade na doença.J Pediatr (Rio J). 2012;88(1):6-16: Distrofia muscular de Duchenne, retardo mental, atraso do desenvolvimento neuropsicomotor.

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Patterns and predictors of sleep disordered breathing in primary myopathies

Cited by 236 publications

References 19 publications

Decline in Lung Volume With Duchenne Muscular Dystrophy Is Associated With Ventilation Inhomogeneity

Decline in Lung Volume With Duchenne Muscular Dystrophy Is Associated With Ventilation Inhomogeneity

Screening for sleep-disordered breathing in neuromuscular disease using a questionnaire for symptoms associated with diaphragm paralysis

Mental retardation in Duchenne muscular dystrophy

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