Longitudinal polysomnographic findings in infantile Pompe disease

Kansagra, Sujay; Austin, Stephanie; DeArmey, Stephanie; Kazi, Zoheb B.; Kravitz, Richard M.; Kishnani, Priya S.

doi:10.1002/ajmg.a.37007

Cited by 15 publications

(8 citation statements)

References 12 publications

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“…In children, OSA and hypoventilation are highly prevalent, and NIV sustainably corrects gas exchange. 28,29 In contrast to these two reports, we did not find central apneas to be of any relevance in adult patients. Our results confirm one previous study that applied NIV to eight patients with LOPD and advanced hypercapnic respiratory failure.…”

Section: Discussioncontrasting

confidence: 99%

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Boentert

Dräger

Glatz

et al. 2016

Journal of Clinical Sleep Medicine

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Study Objectives: In neuromuscular disease, non-invasive ventilation (NIV) is indicated if sleep-disordered breathing (SDB) or significant respiratory muscle weakness (RMW) is present. We investigated immediate and long-term effects of NIV on sleep and nocturnal ventilation in patients with late-onset Pompe disease (LOPD). Methods: Polysomnography and transcutaneous capnometry were performed in 22 adult patients. If indicated, NIV was initiated the subsequent night and follow-up sleep studies were scheduled. Sleep quality and health-related quality of life (HRQoL) were self-assessed using standard questionnaires. Results: Fourteen patients received enzyme replacement therapy (ERT), five patients were treatment-naïve, and three individuals had previously stopped ERT. Fifteen patients reported symptoms of SDB, all showing abnormal sleep studies. Two patients had obstructive sleep apnea (OSA), three patients showed both OSA and nocturnal hypercapnia, four individuals had nocturnal hypercapnia, and two patients had both OSA and daytime hypercapnia. Four patients showed normal apnea-hypopnea index and CO 2 measures but nocturnal tachypnea, orthopnea, and significant RMW were present. Supine forced vital capacity (FVC) and positional drop of FVC were independent predictors of SDB. In patients with SDB, HRQoL was significantly reduced. NIV was initiated in 15 individuals and led to significant improvement of ventilation and oxygenation in the first night of treatment. Follow-up sleep studies revealed stable normoxia and normocapnia without deterioration of sleep outcomes for up to 40 months. Conclusions: In LOPD, SDB is common and comprises both hypoventilation and OSA. NIV significantly improves respiration already in the first night of treatment. NIV warrants nocturnal long-term normoventilation without deterioration of sleep quality. Keywords: noninvasive ventilation, polysomnography, Pompe disease, respiratory muscle weakness, sleep-disordered breathing Citation: Boentert M, Dräger B, Glatz C, Young P. Sleep-disordered breathing and effects of noninvasive ventilation in patients with late-onset Pompe disease. J Clin Sleep Med 2016;12(12):1623-1632. I NTRO DUCTI O NPompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the α-1,4-glucosidase (GAA) enzyme. Glycogen accumulation results in lysosomal dysfunction, autophagy, and progressive tissue damage.1 Early infantile-onset Pompe disease is characterized by quadriplegia and fatal hypertrophic cardiomyopathy if enzyme replacement therapy (ERT) is not available. The term late-onset Pompe disease (LOPD) comprises subtypes with late-infantile, childhood, juvenile, or adult disease manifestation. LOPD lacks major cardiac involvement and is characterized by progressive myopathy of the limb-girdle muscles, the trunk muscles, and the diaphragm.2 Respiratory muscle weakness manifests as nocturnal hypoventilation first, eventually leading to sleep disruption, morning headache, fatigue, and excessive daytime sleepiness.3 In addition, patients...

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Section: Discussioncontrasting

confidence: 99%

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Boentert

Dräger

Glatz

et al. 2016

Journal of Clinical Sleep Medicine

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“…NIV improves gas exchange. Enzyme replacement therapy has a positive impact on ventilatory failure and survival [242,243,[270][271][272][273][274] (table e3.3.D).…”

Section: Acid Maltase Deficiencymentioning

confidence: 99%

Definition, discrimination, diagnosis and treatment of central breathing disturbances during sleep

et al. 2016

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The complexity of central breathing disturbances during sleep has become increasingly obvious. They present as central sleep apnoeas (CSAs) and hypopnoeas, periodic breathing with apnoeas, or irregular breathing in patients with cardiovascular, other internal or neurological disorders, and can emerge under positive airway pressure treatment or opioid use, or at high altitude. As yet, there is insufficient knowledge on the clinical features, pathophysiological background and consecutive algorithms for stepped-care treatment. Most recently, it has been discussed intensively if CSA in heart failure is a "marker" of disease severity or a "mediator" of disease progression, and if and which type of positive airway pressure therapy is indicated. In addition, disturbances of respiratory drive or the translation of central impulses may result in hypoventilation, associated with cerebral or neuromuscular diseases, or severe diseases of lung or thorax. These statements report the results of an European Respiratory Society Task Force addressing actual diagnostic and therapeutic standards. The statements are based on a systematic review of the literature and a systematic two-step decision process. Although the Task Force does not make recommendations, it describes its current practice of treatment of CSA in heart failure and hypoventilation.

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“…We also demonstrated that speech therapies were not obviously effective in correcting hypernasality in children with IOPD [4]. A palatal lift prosthesis or surgical intervention may be necessary for these patients, but such management techniques may cause obstructive sleep apnea, which may occur with a high incidence in IOPD [22]. In contrast, CPAP training is safe and convenient for children with IOPD and should be initially considered for improving their hypernasality and speech intelligibility.…”

Section: Discussionmentioning

confidence: 90%

Treating Hypernasal Speech in Children with Infantile-Onset Pompe Disease: Effectiveness of Continuous Positive Airway Pressure

Zeng

Torng

et al. 2021

Preprint

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Children with infantile-onset Pompe disease (IOPD) demonstrate hypernasality. This study aimed to evaluate whether continuous positive airway pressure (CPAP) training, effective in reducing hypernasality in subjects with velopharyngeal insufficiency, may reduce hypernasality in children with IOPD. Five children with IOPD were enrolled to partake in an 8-week, 6-day-per-week regimen of CPAP training at home, involving 8 week baseline, 8 week CPAP training, and 8 week follow-up outcome assessment combined with regular speech therapy once per week. The outcomes included the degree of hypernasality (DH), the percentage of consonants correct (PCC), and the speech intelligibility score (SIS). C-statistic analysis with an α of .05 (z ≥ 1.645) and visual analysis were used to assess speech changes. Three patients completed the study. During the CPAP training phase, the DH, PCC, and SIS were significantly improved compared with the baseline (p ≤ .05). At the follow-up phase, both DH and SIS were improved compared with the baseline (p ≤ .05), but the PCC had returned to the baseline level (p ≥ .05). CPAP training demonstrated effectiveness in reducing nasal sounds in IOPD patients. Further studies involving training younger children with normal hearing may help elucidate the persistence of the effects in children with IOPD.

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Longitudinal polysomnographic findings in infantile Pompe disease

Cited by 15 publications

References 12 publications

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Sleep-Disordered Breathing and Effects of Noninvasive Ventilation in Patients with Late-Onset Pompe Disease

Definition, discrimination, diagnosis and treatment of central breathing disturbances during sleep

Treating Hypernasal Speech in Children with Infantile-Onset Pompe Disease: Effectiveness of Continuous Positive Airway Pressure

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