Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Birnkrant, David J.; Bushby, K.; Bann, Carla; Alman, Benjamin A.; Apkon, Susan; Blackwell, Angela Glover; Case, Laura E.; Cripe, Linda H.; Hadjiyannakis, Stasia; Olson, Aaron K.; Sheehan, Daniel W.; Bolen, Julie; Weber, David R.; Ward, Leanne M.

doi:10.1016/s1474-4422(18)30025-5

Cited by 790 publications

(1,013 citation statements)

References 110 publications

(120 reference statements)

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“…It should be noted, however, than our study We also evaluated in our study the patient's skeletal system condition after surgery for myelomeningocele. In this group of patients, low bone mass was ac- These drugs are mainly used in disabled patients undergoing glucocorticosteroid treatment who have suffered bone fractures [21].…”

Section: Discussionmentioning

confidence: 99%

Bone Mineral Density and Vitamin D Status in Children with Chronic Neurological Syndromes—Clinical Observations

Jakubowska-Pietkiewicz¹,

Orzechowska²,

Woźniak³

et al. 2018

CRCM

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Background: Some of the risk factors for osteoporosis population include: chronic immobilisation, insufficient dietary supply of calcium and vitamin D, decreased physical activity and long-term pharmacological treatment (glucocorticoids, anticonvulsant drugs). In disabled children and adolescents, the negative impact of these factors may cumulate to considerably impair the quality of life. Objectives: The aim of our study was to assess the vitamin D status and bone mineral density in children with chronic neurological syndromes. Material and Methods: A total of 34 children between 3 and 18 years of age were examined: 9 children with muscular dystrophy, 17 with cerebral palsy and 8 with lumbar myelomeningocele. All the subjects underwent the following assessments: measurement of the concentration of the hepatic metabolite of vitamin D and total body less head and/or lumbar spine densitometry by dual energy X-ray absorptiometry (DEXA). Low bone mass or low bone mineral density was diagnosed if the Z-score value was found to be equal to or below −2.0. Results: Indications for the above tests were chronic immobilisation or motor activity restriction, and-in 10/34 children-femoral or vertebral fracture. Vitamin D deficiency (<30 ng/ml) was detected in 27/33 patients (>81%). Low bone mass on densitometry was demonstrated in 27/34 and osteoporosis in 10/34 subjects (Z-score ≤ −2.0). Conclusion: Bone densitometry should be included in the standard of care for children with chronic neurological syndromes, and early detection of low bone mass should be an indication for treatment with calcium and vitamin D.

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Section: Discussionmentioning

confidence: 99%

Bone Mineral Density and Vitamin D Status in Children with Chronic Neurological Syndromes—Clinical Observations

Jakubowska-Pietkiewicz¹,

Orzechowska²,

Woźniak³

et al. 2018

CRCM

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“…Secondly, they suggest some cutoffs to start nocturnal assisted NIV with a backup rate when there are early signs or symptoms of sleep hypoventilation or other sleep-disordered breathing such as abnormal sleep study, FVC < 50% predicted, MIP < 60 cm H 2 O, or awake baseline SpO 2 < 95% or pCO 2 > 45 mm Hg; however, integrating all elements of PFT assessment rather than relying on a single limit value is advisable. Furthermore, daytime NIV should be added when, despite nocturnal ventilation, daytime SpO 2 is < 95%, pCO 2 > 45 mm Hg, or symptoms of awake dyspnea are present [18, 19]. However, real-life studies showed that despite great FVC reduction, many ALS and DMD patients still do not receive NIV at the time suggested by guidelines [20-22].…”

Section: Rationale and Timing For Niv Applicationmentioning

confidence: 99%

“…Moreover, ALS patients during NIV show a decreased pain threshold leading to avoidance of further invasive procedures, increased social restrictions, and raised psychological barriers against transition from NIV to IMV [141]. In case of patient compliance, there are strong recommendations for continuation of NIV up to 24 h according to patient interface preferences [18]. …”

Section: Ethical Dilemmasmentioning

confidence: 99%

Long-Term Ventilation in Neuromuscular Patients: Review of Concerns, Beliefs, and Ethical Dilemmas

Crimi

Pierucci²,

Carlucci

et al. 2019

Respiration

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Background: Noninvasive mechanical ventilation (NIV) is an effective treatment in patients with neuromuscular diseases (NMD) to improve symptoms, quality of life, and survival. Summary: NIV should be used early in the course of respiratory muscle involvement in NMD patients and its requirements may increase over time. Therefore, training on technical equipment at home and advice on problem solving are warranted. Remote monitoring of ventilator parameters using built-in ventilator software is recommended. Telemedicine may be helpful in reducing hospital admissions. Anticipatory planning and palliative care should be carried out to lessen the burden of care, to maintain or withdraw from NIV, and to guarantee the most respectful management in the last days of NMD patients’ life. Key Message: Long-term NIV is effective but challenging in NMD patients. Efforts should be made by health care providers in arranging a planned transition to home and end-of-life discussions for ventilator-assisted individuals and their families.

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“…An anticipatory monitoring approach allows timely initiation of cough assist, nocturnal, and subsequent daytime ventilatory support [23]. In patients with muscular dystrophy type Duchenne, HMV should be discussed and initiated when symptomatic nocturnal hypoventilation or advanced respiratory muscle weakness develops (FVC or maximal inspiratory pressure fall below 50% or 60 cmH 2 O, respectively) [24]. These patients are at risk for daytime ventilatory failure at short or intermediate term [25].…”

Section: Patient Selectionmentioning

confidence: 99%

Frontiers in Clinical Practice of Long-Term Care of Chronic Ventilatory Failure

Schwarz

Bloch

2019

Respiration

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Home mechanical ventilation (HMV) is an effective long-term treatment for chronic hypercapnic respiratory failure. In addition to the established practice of providing HMV for the treatment of chronic ventilatory failure in slowly progressive neuromuscular and chest wall disease, there is accumulating evidence for improvement of quality of life and prolongation of survival by HMV in highly prevalent diseases like chronic obstructive pulmonary disease and ever-increasing obesity hypoventilation syndrome as well as rapidly progressive neuromuscular disease. The key concepts for successful HMV are an experienced team selecting the right patients, timely initiation of adequate ventilation via an appropriate interface, and monitoring effectiveness during regular long-term follow-up. Coaching of patients with chronic respiratory failure on long-term HMV within a dedicated service and collaborations with community services for home care are essential. The current review describes various important practical aspects of HMV that remain frontiers in the implementation of the current knowledge in clinical practice and may help in providing effective HMV to all those in need.

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Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Cited by 790 publications

References 110 publications

Bone Mineral Density and Vitamin D Status in Children with Chronic Neurological Syndromes—Clinical Observations

Bone Mineral Density and Vitamin D Status in Children with Chronic Neurological Syndromes—Clinical Observations

Long-Term Ventilation in Neuromuscular Patients: Review of Concerns, Beliefs, and Ethical Dilemmas

Frontiers in Clinical Practice of Long-Term Care of Chronic Ventilatory Failure

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