Non‐invasive ventilation usage and adherence in children and adults with Duchenne muscular dystrophy: A multicenter analysis

Hurvitz, M.S.; Sunkonkit, Kanokkarn; Defante, Andrew; Lesser, Daniel J.; Skalsky, Andrew J.; Orr, Jeremy E.; Chakraborty, Abhishek A.; Amin, Reshma; Bhattacharjee, Rakesh

doi:10.1002/mus.27848

Cited by 5 publications

(5 citation statements)

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“…This was consistent with a prior report that median age at loss of ambulation was signi cantly earlier in Hispanic boys than a non-Hispanic white population 43 . Another study reported that Hispanic ethnicity was signi cantly associated with higher nightly use of non-invasive ventilation in DMD 27 . We were concerned that differences in FVC% decline in Hispanic and non-Hispanic boys might have re ected a different level of care.…”

Section: Discussionmentioning

confidence: 99%

“…These features of the cohort enabled analysis of the impact of newer therapies and Hispanic ethnicity on DMD progression. DMD disease progression was measured serially by forced vital capacity percent of predicted (FVC%), a widely used pulmonary function test that is a prognostic factor for DMD outcomes such as loss of ambulation and mortality 13,18,[24][25][26][27] . The mixed effect linear regression model of FVC% was partially validated by redevelopment in an overlapping but slightly larger cohort with one and half years of additional follow up and 19% more FVC% measurements.…”

Section: Discussionmentioning

confidence: 99%

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Mathematical modeling of the progression of Duchenne Muscular Dystrophy in San Diego in an era of allele specific oligonucleotide therapy

Kingsmore,

Baun,

Tobin

et al. 2024

Preprint

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Duchenne muscular dystrophy (DMD) is a relatively common, severe, progressive, X-linked muscle disorder caused by pathogenic variation in the dystrophin gene. Affected status can be determined at birth, 3-5 years before symptom onset. As effective corticosteroid and genetic therapies are becoming available for DMD, predictive models of DMD progression are needed to guide individualized care of patients and clinical trials of new treatments. We developed a multivariable, dynamical model of DMD progression, as measured by percent of predicted FVC (FVC%), through a longitudinal natural history study of 113 boys from a single center in San Diego County between 2008 – 2023. A mixed effect linear regression model of FVC% had marginal and conditional r2 values of 0.54 and y of 0.83 with five factors (Hispanic ethnicity, B= -10.0, 95% CI -16.2 to -3.89, p=.002; age at symptom onset, B= -2.4, 95% CI -3.6 to -1.3; p<.001; DMD exon 44 skip amenability, B= 13.14, 95% CI 4.0 to 22.31, p=.007; steroid therapy start <10 years, B=24.9, 95% CI 16.0 to 33.9, p<.001; years from symptom onset, B= -2.5, 95% CI -2.9 to -2.2, p<.001). Race, age when first seen at a tertiary referral center, age at molecular diagnosis and treatment with allele specific oligonucleotides were not significantly associated with respiratory progression of DMD as measured by longitudinal predicted forced vital capacity. This model of DMD respiratory progression suggests that care be individualized by earlier or more intensive treatment in Hispanic patients and those with early onset of symptoms. Clinical trials of new treatments for DMD that use FVC% as a primary or secondary end-point may benefit from designs that account for potentially confounding effects of ethnicity, DMD genotype, concurrent use of corticosteroids, and earlier age of onset of symptoms.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mathematical modeling of the progression of Duchenne Muscular Dystrophy in San Diego in an era of allele specific oligonucleotide therapy

Kingsmore,

Baun,

Tobin

et al. 2024

Preprint

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“…Although NIV has proven to show positive outcomes in children with NMD, adherence to NIV remains an issue. Hurvitz and Sunkonkit et al [41], have shown through a retrospective analysis of data collected from three major centers caring for fifty-nine children with DMD and on NIV. They found that those who were older, had a lower FVC, and those who were not on deflazacort were associated with adherence to NIV, but were not statistically significant when included in the multivariable analysis.…”

Section: Non-invasive Ventilatory (Niv) Supportmentioning

confidence: 99%

Sleep Disordered Breathing in Children with Neuromuscular Disease

Chidambaram,

Jhawar,

McDonald

et al. 2023

Children

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Sleep disordered breathing (SDB) in children with neuromuscular disease (NMD) is more prevalent compared to the general population, and often manifests as sleep-related hypoventilation, sleep-related hypoxemia, obstructive sleep apnea, central sleep apnea, and/or disordered control of breathing. Other sleep problems include, sleep fragmentation, abnormal sleep architecture, and nocturnal seizures in certain neuromuscular diseases. The manifestation of sleep disordered breathing in children depends on the extent, type, and progression of neuromuscular weakness, and in some instances, may be the first sign of a neuromuscular weakness leading to diagnosis of an NMD. In-lab diagnostic polysomnography (PSG) remains the gold standard for the diagnosis of sleep disordered breathing in children, but poses several challenges, including access to many children with neuromuscular disease who are non-ambulatory. If SDB is untreated, it can result in significant morbidity and mortality. Hence, we aimed to perform a comprehensive review of the literature of SDB in children with NMD. This review includes pathophysiological changes during sleep, clinical evaluation, diagnosis, challenges in interpreting PSG data using American Academy of Sleep (AASM) diagnostic criteria, management of SDB, and suggests areas for future research.

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“…Several studies have shown that NIV adherence is often poor in patients with neuromuscular diseases. Rautemaa et al found that 72% of patients with type 1 myotonic dystrophy scarcely used NIV (<5 h per 24 h) [ 5 ], although a recent multicenter retrospective analysis demonstrated that NIV was used more than 70% of nights with an average nightly usage of 7 h by patients with Duchenne muscular dystrophy, particularly by older subjects [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Psychological Factors Influencing Adherence to NIV in Neuromuscular Patients Dependent on Non Invasive Mechanical Ventilation: Preliminary Results

Annunziata,

Calabrese,

Simioli

et al. 2023

JCM

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Background: Non-invasive ventilation (NIV) is associated with improvement of both morbility and mortality in patients affected by neuromuscular diseases with chronic respiratory failure. Several studies have also shown that long-term NIV positively impacts the patient’s quality of life and perception of disease status. Its effectiveness is likely related to the adherence to NIV. Several factors, patient- and not patient-related, may compromise adherence to NIV, such as physical, behavioral, familiar, and social issues. Few data are currently available on the role of psychological factors in influencing NIV adherence. Materials and methods: In this pilot study, we evaluated the adherence to NIV in a group of 15 adult patients with neuromuscular diseases (Duchenne muscular dystrophy, myotonic dystrophy, and amyotrophic lateral sclerosis) in relation to their grade of depression assessed by the Beck Depression Inventory (BDI) questionnaire. Other data were collected, such as clinical features (age and sex), use of anxiolytic drugs, the presence of a family or professional caregiver, the quality of patient–physician relationship, the beginning of psychological support after BDI screening, and the family acceptance of NIV. NIV adherence was definied as the use of NIV for at least 4 h per night on 70% of nights in a month. Results: The overall rate of NIV adherence was 60%. Based on the BDI questionnaire, patients who were non-adherent to NIV had a higher rate of depression, mainly observed in the oldest patients. The acceptance of NIV by the family and positive physician–patient interaction seem to favor NIV adherence. Conclusion: Depression can interfere with NIV adherence in patients with neuromuscolar diseases.

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Non‐invasive ventilation usage and adherence in children and adults with Duchenne muscular dystrophy: A multicenter analysis

Cited by 5 publications

References 44 publications

Mathematical modeling of the progression of Duchenne Muscular Dystrophy in San Diego in an era of allele specific oligonucleotide therapy

Mathematical modeling of the progression of Duchenne Muscular Dystrophy in San Diego in an era of allele specific oligonucleotide therapy

Sleep Disordered Breathing in Children with Neuromuscular Disease

Psychological Factors Influencing Adherence to NIV in Neuromuscular Patients Dependent on Non Invasive Mechanical Ventilation: Preliminary Results

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