Early Onset of Sleep-Disordered Breathing in Two Children With
            <i>SEPN1</i>
            -Related Myopathies

Viprey, Mathilde; Trang, Ha; Pomédio, M.; Bessaci-Kabouya, K.; Sabouraud, Pascal; Chéliout-Héraut, F.; Mauran, Pierre

doi:10.5664/jcsm.6734

Cited by 4 publications

(5 citation statements)

References 6 publications

(5 reference statements)

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“…Sleep-disordered breathing has been documented in children with neuromuscular weakness disorders that cause restrictive lung illness [9]. The severity of sleep-disordered breathing is dependent, in part, on lung volume, with a greater tendency for desaturation as lung volume is decreased [9].…”

Section: Discussionmentioning

confidence: 99%

“…We measured body weight, height, arm span, body mass index (BMI), spirometry parameters (FVC-forced vital capacity and FEV1-forced expiratory volume in the first second as a percent predicted), and Cobb angle as indicators of growth status and respiratory function. Arm span was used as a stand-in for height for determining BMI and spirometry standards [9,13]. Spirometry data were collected using tools and procedures that adhered to the American Thoracic Society/European Respiratory Society's norms Vitalograph 6800 Pneumotrac Spirometer with Spirotrac Software [13].…”

Section: Methodsmentioning

confidence: 99%

“…Sleep-disordered breathing is accurately detected by polysomnography (PSG), which also defines the severity of the condition. Muscle weakness with respiratory muscle dysfunction leads to low chest wall compliance with a decrease in lung volume, which causes hypoventilation [9][10][11]. Respiratory surveillance for nighttime hypoventilation is an important aspect of clinical therapy.…”

Section: Management Of Clinical Manifestations In Collagen Vi-related...mentioning

confidence: 99%

“…Table 2. Based on the severity of collagen VI-related myopathy and the system involved, the evaluation recommendation was summarized for the better management of patients [4,6,9,11,12].…”

Section: Management Of Clinical Manifestations In Collagen Vi-related...mentioning

confidence: 99%

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A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report

Oros,

Baranga,

Glangher

et al. 2023

JPM

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Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected cases, the respiratory muscles are weakened, requiring mechanical ventilation, particularly during sleep. Individuals with collagen VI-related myopathy are at risk of restrictive lung disease and sleep-disordered breathing due to the development of scoliosis associated with neuromuscular weakness. Typical signs of respiratory failure are not always present, and some patients are unaware that their respiratory muscles have become weaker. Here, we report a case of an intermediate form of collagen VI-related myopathy confirmed by next-generation sequencing. The girl presented morning headache, irritability, and aggressiveness, and because of these main symptoms, she was referred by the neurologist for respiratory evaluation. The result of spirometry was associated with hypoventilation shown during sleep studies, indicating the necessity to initiate home non-invasive ventilation (NIV) with immediate improvement in the symptoms. Neuromuscular disorders (NMDs) have a great impact on sleep, but only very few studies evaluating sleep quality in young patients with collagen VI-related myopathy have been described. Daytime symptoms of sleep-disordered breathing may include irritability, emotional lability, and poor attentiveness, but these can be overseen by the severity of other complex medical problems in patients with collagen VI-related myopathy. We underline the importance of the close monitoring of respiratory function, sleep evaluation, and decision making to support the NIV treatment of other collagen VI-related myopathy variant-specific patients. Early recognition of sleep disturbances and initiation of respiratory support can preserve or enhance the quality of life for patients and their caregivers. Routine screening for identification of emotional distress should be instituted in the clinical practice using validated psychological measures in a multidisciplinary approach with different intervention strategies for both patient and parent when necessary.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Management Of Clinical Manifestations In Collagen Vi-related...mentioning

confidence: 99%

“…Table 2. Based on the severity of collagen VI-related myopathy and the system involved, the evaluation recommendation was summarized for the better management of patients [4,6,9,11,12].…”

Section: Management Of Clinical Manifestations In Collagen Vi-related...mentioning

confidence: 99%

See 2 more Smart Citations

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report

Oros,

Baranga,

Glangher

et al. 2023

JPM

View full text Add to dashboard Cite

show abstract

“…This explains the disproportionate respiratory involvement in affected children both from direct diaphragmatic muscle involvement and from lung parenchymal involvement. [ 2 ]…”

mentioning

confidence: 99%