Regine Ragette

Long­term noninvasive ventilation in children and adolescents with neuromuscular disorders

The aim of the current study was to investigate the longterm impact of nocturnal noninvasive (positivepressure) ventilation (NIV) on sleep, sleepdisordered breathing (SDB) and respiratory function in children and adolescents with progressive neuromuscular disorders (NMD). Thirty patients (12.3±4.1 yrs) with various inherited NMD were treated with NIV for ventilatory insufficiency (n=14) or symptomatic SDB (n=16). Patients were prospectively followed with sleep studies, spirometry and peak inspiratory muscle pressure. Ten patients were studied before and after 3 nights withdrawal from NIV. NIV normalised nocturnal gas exchange in all patients and diurnal gas exchange in patients with ventilatory insufficiency. The effects persisted over 25.3±12.7 months. Nocturnal transcutaneous partial pressure of carbon dioxide improved from (baseline versus latest control) 7.1±1.3 to 5.5±0.6 kPa (53.7±9.9 to 41.6±4.8 mmHg), diurnalcarbon dioxide arterial tension from 6.3±1.6 to 5.4±0.5 kPa (47.5±11.9 to 40.6±3.6 mmHg). NIV improved respiratory disturbance index, arousals from sleep, nocturnal heart rate and sleep architecture. Vital capacity decreased in five adolescents with Duchenne muscular dystrophy −183±111 mL·yr−1 but remained stable in 25 children with other conditions (8±78 mL·yr−1). Three nights withdrawal of NIV in 10 previously stable patients resulted in prompt deterioration of SDB and gas exchange back to baseline but could be instantly normalised by resumption of NIV. Noninvasive (positivepressure) ventilation has favourable longterm impact on nocturnal and diurnal gas exchange and sleep and in patients with nonDuchenne neuromuscular disorders on vital capacity as well. It is indicated in children and adolescents with symptomatic sleepdisordered breathing or ventilatory insufficiency due to neuromuscular disorders.

Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders

Sleep disordered breathing with or without nocturnal hypercapnic hypoventilation is a common complication of respiratory muscle weakness in childhood neuromuscular disorders. Nocturnal hypercapnic hypoventilation as a sign of respiratory muscle fatigue, portends a particularly poor prognosis. We aimed at identifying daytime predictors of sleep disordered breathing at its onset and sleep disordered breathing with nocturnal hypercapnic hypoventilation. Forty-nine children and adolescents (11.3+/-4.4 years) with progressive neuromuscular disorders were studied with inspiratory vital capacity, peak inspiratory pressure, arterial blood gases, polysomnography, and a ten-item symptoms questionnaire. Daytime respiratory function was prospectively compared with polysomnographic variables. Sleep disordered breathing was found in 35/49 patients (71%). Twenty-four (49%) had sleep disordered breathing with nocturnal hypercapnic hypoventilation. Inspiratory vital capacity and peak inspiratory pressure, but not symptom score, correlated with sleep disordered breathing and severity of nocturnal hypercapnic hypoventilation. Sleep disordered breathing-onset was predicted by inspiratory vital capacity<60% (sens. 97%, spec. 87%). Sleep disordered breathing with nocturnal hypercapnic hypoventilation was predicted by inspiratory vital capacity<40% (sens. 96%, spec. 88%) and PaCO(2)>40 mmHg (sens. 92%, spec. 72%,). Sleep disordered breathing can reliably be predicted from simple daytime respiratory function tests, which, if applied systematically, will improve recognition of nocturnal respiratory failure.

Predictors of severe chest infections in pediatric neuromuscular disorders.

Chest infections are serious complications in neuromuscular disorders. The predictive values of lung and respiratory muscle function including peak cough flow still remain unclear. We performed retrospective analysis of 46 children and adolescents (12.7+/-3.7 years) in whom lung function, respiratory muscle function and peak cough flows had been obtained. Data were related to: (1). number of chest infections and days of antibiotic treatment the year prior to the study and (2). history of severe chest infection requiring hospital admission. The number of chest infections and the number of days treated with antibiotics correlated with Inspiratory Vital Capacity IVC, peak cough flow PCF and Peak Expiratory Pressure PEP. Twenty-two patients were hospitalized at least once due to severe chest infection. IVC (0.65 vs. 1.44 l; P<0.0001) and PCF (116 vs. 211 l/min; P<0.0005) in these patients were significantly lower than in the non-hospitalized group. IVC<1.1l and PCF<160 l/min were specific and sensitive thresholds to discriminate between patients who had already suffered severe chest infections and those who had not. Therefore, spirometry and peak cough flow are reliable tests to identify patients at high risk for severe chest infections. Patients with IVC below 1.1l and/or PCF below 160 l/min should be well monitored and introduced to assisted coughing techniques.

Nächtliche nichtinvasive Beatmung bei Kindern und Jugendlichen mit neuromuskulären Erkrankungen: Einfluss auf Schlaf und Symptome

SummaryAimSleep disordered breathing (SDB) is an inevitable complication of progressive neuromuscular disorders (NMD). Aim of the study was to prospectively investigate the impact of three months of non-invasive ventilation (NIV) on sleep and SDB-associated symptoms in children and adolescents with advanced NMD.MethodsTwenty-two patients (11.1±4.3 years) with symptomatic SDB were enrolled in the study and evaluated with polysomnography and a symptom questionnaire. Twenty patients were treated with pressure assisted ventilation during sleep. The impact of NIV on SDB, sleep and symptoms was re-evaluated after 3 months of NIV.ResultsIn 2/22 patients, after adenotomy, SDB was no longer demonstrable. In the remaining 20 patients NIV improved SDB (Respiratory Disturbance Index 1.8±1.6 vs. 9.2±4.5/h; minimal SpO2 91±3 vs. 79±12%). Three months of treatment resulted in shortened sleep latency (17±13 vs. 42±38 minutes), improved sleep efficiency (95±3 vs. 89±9%) and less EEG-arousals (11±5 vs. 22±9/h, p<0.001 for all). Sleep-stage proportion did not change. Patients reported significant improvements of sleep quality, morning headaches, mood, concentration and daytime sleepiness (p<0.001 for all).ConclusionsIn children with NMD intermittent nocturnal NIV results in objective and subjective improvements of sleep quality and symptoms associated with SDB.ZusammenfassungZielSchlafbezogene Atmungsstörungen (SBAS) sind eine obligate Komplikation von progredienten neuromuskulären Erkrankungen (NME). Ziel der Studie war die prospektive Untersuchung des Einflusses von drei Monaten nichtinvasiver Beatmung (NIB) auf den Schlaf und die mit SBAS assoziierten Symptome von Kindern und Jugendlichen mit fortgeschrittenen NME.MethodeZweiundzwanzig Patienten mit symptomatischen SBAS (11,1±4,3 Jahre) wurden in die Studie eingeschlossen und mit einer Polysomnographie und einem Symptomfragebogen untersucht. 20 Patienten wurden während des Nachtschlafes mit druckgesteuerten Beatmungsgeräten über Masken beatmet, die Evaluation wurde nach drei Monaten Behandlung wiederholt.ErgebnisseBei zwei Patienten waren nach Adenotomie keine SBAS mehr nachweisbar. Bei den übrigen 20 Patienten normalisierte die NIB die Atmung und den Gasaustausch im Schlaf (Respiratory Disturbance Index 1,8±1,6 vs. 9,2±4,5/h und minimale SpO2 91±3 vs. 79±12%). Nach drei Monaten wurde während der Beatmung eine kürzere Einschlaflatenz (17±13 vs. 42±38 Minuten), eine höhere Schlafeffizienz (95±3 vs. 89±9%) und weniger EEG-Arousals (11±5 vs. 22±9/h) gemessen (alle p<0,001). Die Schlafstadienverteilung änderte sich nicht. Die subjektive Schlafqualität, morgendlichen Kopfschmerzen, Stimmung, Konzentrationsfähigkeit und Tagesmüdigkeit wurden als signifikant gebessert beurteilt (alle p<0,001).SchlussfolgerungDie intermittierende nächtliche NIB führt mittelfristig zu einer objektiven und subjektiven Verbesserung der Schlafqualität sowie der mit SBAS assoziierten Tagessymptome.AIM Sleep disordered breathing (SDB) is an inevitable complication of progressive neuromuscular disorders (NMD). Aim of the study was to prospectively investigate the impact of three months of non-invasive ventilation (NIV) on sleep and SDB-associated symptoms in children and adolescents with advanced NMD. METHODS Twenty-two patients (11.1 +/- 4.3 years) with symptomatic SDB were enrolled in the study and evaluated with polysomnography and a symptom questionnaire. Twenty patients were treated with pressure assisted ventilation during sleep. The impact of NIV on SDB, sleep and symptoms was re-evaluated after 3 months of NIV. RESULTS In 2/22 patients, after adenotomy, SDB was no longer demonstrable. In the remaining 20 patients NIV improved SDB (Respiratory Disturbance Index 1.8 +/- 1.6 vs. 9.2 +/- 4.5/h; minimal SpO2 91 +/- 3 vs. 79 +/- 12%). Three months of treatment resulted in shortened sleep latency (17 +/- 13 vs. 42 +/- 38 minutes), improved sleep efficiency (95 +/- 3 vs. 89 +/- 9%) and less EEG-arousals (11 +/- 5 vs. 22 +/- 9/h, p < 0.001 for all). Sleep-stage proportion did not change. Patients reported significant improvements of sleep quality, morning headaches, mood, concentration and daytime sleepiness (p < 0.001 for all). CONCLUSIONS In children with NMD intermittent nocturnal NIV results in objective and subjective improvements of sleep quality and symptoms associated with SDB.

Pulmonary hypertension and lung transplantation

ZusammenfassungDie pulmonale Hypertonie ist eine schwerwiegende und lebenslimitierende Erkrankung, die oftmals junge Menschen betrifft. Trotz wesentlicher Verbesserungen der medikamentösen Optionen bietet nur die Lungentransplantation einen kurativen Ansatz mit Wiederherstellung der Belastbarkeit. Allerdings sollte die Transplantation aufgrund des Organspendermangels und der Entwicklung der chronischen Abstoßung im Verlauf nur als letzte therapeutische Option angesehen werden. Die Vorstellung in einem erfahrenen Transplantationszentrum sollte eher früh als spät erfolgen, um eine rechtzeitige Listung zur Transplantation zu gewährleisten. Dabei sollte eine gründliche Evaluation stattfinden, gefolgt von Kontrollen in regelmäßigen Abständen, um frühzeitig eine Verschlechterung des Zustands zu erfassen. Die Doppellungentransplantation hat sich in den meisten Zentren gegenüber der Einzellungentransplantation aufgrund einer besseren 5-Jahres-Überlebensrate und einer erniedrigten Anzahl postoperativer Komplikationen bewährt. Die Herz- und Lungentransplantation sollte in Anbetracht der ähnlichen Überlebensraten und der Organknappheit nur in besonderen Fällen durchgeführt werden.AbstractBackground:With the development of effective drug treatment in the last 2 decades, lung transplantation has become the final option in the management of pulmonary arterial hypertension (PAH). Its main advantage is the curative aspect with recovery of cardiopulmonary capacity. Scarcity of donor organs and chronic graft rejection, however, remain serious limitations to short- and long-term success, and emphasize the need for judicial patient selection. Timely presentation of the patient to the transplant center is of critical importance.Indication:Guidelines have been presented by the International Society for Heart and Lung Transplantation (ISHLT), the American Thoracic Society (ATS) and the American Society of Transplant Physicians (ASTP) in the year 1998. Selection criteria are clinical status (NYHA [New York Heart Association] ≥ III and progressing, right heart insufficiency symptoms), hemodynamic data (mean pulmonary arterial pressure > 55 mmHg, systolic arterial pressure < 120 mmHg, cardiac index < 2 l/min/m2, central venous pressure > 15 mmHg, right heart function on echocardiography), and functional parameters (peak oxygen uptake < 10–12 ml/kg/min, 6-min walk test [MWT] < 332 m). Functional parameters have been shown to correlate with a 1-year mortality of 40% with a 6-MWT < 332 m, of 50% with a peak oxygen uptake < 10.4 ml/kg/min, and of 70% with a systolic arterial pressure < 120 mmHg. Combinations of the above lead to a 1-year survival of 23%. Mean survival of patients with primary pulmonary hypertension (PPH) is 2.8 years and is reduced to 6 months, when NYHA IV is reached (National Institutes of Health-PPH Registry 2002). These data underline the potential survival benefit from transplantation for patients with advanced lung failure due to PAH.Transplantation:Single lung, bilateral lung and heart-lung transplantation are the transplantation procedures available. Even though heart-lung transplantation was the first procedure to be performed in 1981, bilateral lung transplantation is the procedure most commonly performed at present. Choice of transplantation procedure should be made after thorough evaluation, taking the potential reversibility of right ventricular dysfunction after the operation into account (Figure 1). Hemodynamic instability from right and/or left ventricular failure, however, may complicate early postoperative management. Heart and lung transplantation should only be considered, if structural heart damage is present. Lung function improves immediately postoperatively and increases in the following 6 months. Most patients have normal function studies 1 year after transplantation.Statistics:The Registry of the ISHLT (01/1982–06/2003) reports PAH as primary diagnosis in 4.2% of all lung transplantations (457/10,959) and 24.3% (550/2,263) of all heart-lung transplantations. This corresponds to 1.1% of all single (66/5,793) and 7.6% of all bilateral lung transplantations (391/5,166). Single lung transplantation is associated with shorter ischemia, cardiopulmonary bypass and operation time. The procedure, however, is accompanied by ventilation/perfusion mismatch, a higher likelihood of reperfusion injury and less functional reserve in case of progressive chronic rejection. The advantages of bilateral lung transplantation are under discussion, particularly as 5-year survival seems to be higher in some centers. Heart and lung transplantation is reported to have similar results as bilateral lung transplantation (Table 1), showing survival advantages only in patients with Eisenmenger’s syndrome or ventricular septal defect. Bilateral lung transplantation, therefore, is the procedure of choice at the Essen Transplant Center, provided donor organs are available.Conclusion:Thoracic transplantation has become a feasible therapeutic option in terminal PAH patients. Judicious patient selection, choice and timing of procedure are critical to a successful outcome.

Hyperinsufflationsassistiertes Hustenmanöver bei neuromuskulären Erkrankungen

ZusammenfassungHintergrund. Patienten mit neuromuskulären Erkrankungen sind durch respiratorische Komplikationen wie Pneumonien oder Atelektasen bedroht. Ursächlich ist häufig ein ineffektiver Husten. Ziel dieser vorläufigen Studie war die Untersuchung des Effekts von Hyperinsufflation auf den maximalen Hustenstoß (PCF: peak cough flow). Methode. Bei 14 Kindern und Jugendlichen mit neuromuskulären Erkrankungen wurden eine Spirometrie (IVC, FEV1) durchgeführt sowie der maximale Hustenstoß (PCF) vor und nach Hyperinsufflation und das insufflierte Volumen (MIC) gemessen. Ergebnisse. Alle Patienten hatten eine schwere restriktive Ventilationsstörung (IVC 570±362 ml,22±13%).Durch Hyperinsufflation konnte das Lungenvolumen auf durchschnittlich 960/485 ml gesteigert werden (p<0,001).Der maximale Hustenstoß PCF verbesserte sich bei allen Patienten von 112±57 l/min auf 199±85 l/min (p<0,001). Schlussfolgerung. Hyperinsufflationsassistierte Hustenmanöver steigern den maximalen Hustenstoß und können auch im Akutfall zu einer verbesserten Sekretclearance führen.AbstractBackground. Patients with neuromuscular disorders are threatened by respiratory complications such as pneumonia or atelectasis. A reduced cough flow leads to insufficient airway clearance.The aim of this preliminary study was to investigate the effect of hyperinsufflation on peak cough flows (PCF). Methods. In 14 children and adolescents spirometry (IVC, FEV1) was performed. Insufflated volume and peak cough flows before and after hyperinsufflation were measured. Results. All patients had severe restrictive ventilatory defect (IVC 570±362 ml, 22±13%).Hyperinsufflation enhanced lung volumes to 962±485 ml (p<0.001) at mean. The peak cough flow was improved in each patient from 112±57 l/min to 199±85 l/min (p<0.001). Conclusion. Hyperinsufflation assisted coughing enhances peak cough flows and may also lead to improved clearance of airway secretion in acute respiratory complications.

Pulmonale Hypertonie und Lungentransplantation@@@Pulmonary Hypertension and Lung Transplantation

ZusammenfassungDie pulmonale Hypertonie ist eine schwerwiegende und lebenslimitierende Erkrankung, die oftmals junge Menschen betrifft. Trotz wesentlicher Verbesserungen der medikamentösen Optionen bietet nur die Lungentransplantation einen kurativen Ansatz mit Wiederherstellung der Belastbarkeit. Allerdings sollte die Transplantation aufgrund des Organspendermangels und der Entwicklung der chronischen Abstoßung im Verlauf nur als letzte therapeutische Option angesehen werden. Die Vorstellung in einem erfahrenen Transplantationszentrum sollte eher früh als spät erfolgen, um eine rechtzeitige Listung zur Transplantation zu gewährleisten. Dabei sollte eine gründliche Evaluation stattfinden, gefolgt von Kontrollen in regelmäßigen Abständen, um frühzeitig eine Verschlechterung des Zustands zu erfassen. Die Doppellungentransplantation hat sich in den meisten Zentren gegenüber der Einzellungentransplantation aufgrund einer besseren 5-Jahres-Überlebensrate und einer erniedrigten Anzahl postoperativer Komplikationen bewährt. Die Herz- und Lungentransplantation sollte in Anbetracht der ähnlichen Überlebensraten und der Organknappheit nur in besonderen Fällen durchgeführt werden.AbstractBackground:With the development of effective drug treatment in the last 2 decades, lung transplantation has become the final option in the management of pulmonary arterial hypertension (PAH). Its main advantage is the curative aspect with recovery of cardiopulmonary capacity. Scarcity of donor organs and chronic graft rejection, however, remain serious limitations to short- and long-term success, and emphasize the need for judicial patient selection. Timely presentation of the patient to the transplant center is of critical importance.Indication:Guidelines have been presented by the International Society for Heart and Lung Transplantation (ISHLT), the American Thoracic Society (ATS) and the American Society of Transplant Physicians (ASTP) in the year 1998. Selection criteria are clinical status (NYHA [New York Heart Association] ≥ III and progressing, right heart insufficiency symptoms), hemodynamic data (mean pulmonary arterial pressure > 55 mmHg, systolic arterial pressure < 120 mmHg, cardiac index < 2 l/min/m2, central venous pressure > 15 mmHg, right heart function on echocardiography), and functional parameters (peak oxygen uptake < 10–12 ml/kg/min, 6-min walk test [MWT] < 332 m). Functional parameters have been shown to correlate with a 1-year mortality of 40% with a 6-MWT < 332 m, of 50% with a peak oxygen uptake < 10.4 ml/kg/min, and of 70% with a systolic arterial pressure < 120 mmHg. Combinations of the above lead to a 1-year survival of 23%. Mean survival of patients with primary pulmonary hypertension (PPH) is 2.8 years and is reduced to 6 months, when NYHA IV is reached (National Institutes of Health-PPH Registry 2002). These data underline the potential survival benefit from transplantation for patients with advanced lung failure due to PAH.Transplantation:Single lung, bilateral lung and heart-lung transplantation are the transplantation procedures available. Even though heart-lung transplantation was the first procedure to be performed in 1981, bilateral lung transplantation is the procedure most commonly performed at present. Choice of transplantation procedure should be made after thorough evaluation, taking the potential reversibility of right ventricular dysfunction after the operation into account (Figure 1). Hemodynamic instability from right and/or left ventricular failure, however, may complicate early postoperative management. Heart and lung transplantation should only be considered, if structural heart damage is present. Lung function improves immediately postoperatively and increases in the following 6 months. Most patients have normal function studies 1 year after transplantation.Statistics:The Registry of the ISHLT (01/1982–06/2003) reports PAH as primary diagnosis in 4.2% of all lung transplantations (457/10,959) and 24.3% (550/2,263) of all heart-lung transplantations. This corresponds to 1.1% of all single (66/5,793) and 7.6% of all bilateral lung transplantations (391/5,166). Single lung transplantation is associated with shorter ischemia, cardiopulmonary bypass and operation time. The procedure, however, is accompanied by ventilation/perfusion mismatch, a higher likelihood of reperfusion injury and less functional reserve in case of progressive chronic rejection. The advantages of bilateral lung transplantation are under discussion, particularly as 5-year survival seems to be higher in some centers. Heart and lung transplantation is reported to have similar results as bilateral lung transplantation (Table 1), showing survival advantages only in patients with Eisenmenger’s syndrome or ventricular septal defect. Bilateral lung transplantation, therefore, is the procedure of choice at the Essen Transplant Center, provided donor organs are available.Conclusion:Thoracic transplantation has become a feasible therapeutic option in terminal PAH patients. Judicious patient selection, choice and timing of procedure are critical to a successful outcome.

Nichtinvasive Beatmung bei neuromuskulären Erkrankungen

ZusammenfassungHintergrund. Schlafbezogene Atmungsstörungen (SBAS) und respiratorische Insuffizienz (RI) sind zwangsläufige Komplikationen von progressiven neuromuskulären Erkrankungen (NME).Ziel der Studie war die Untersuchung des Einflusses der nichtinvasiven Beatmung (NIB) auf SBAS,Gasaustausch und Symptome bei Kindern und Jugendlichen mit fortgeschrittenen NME. Methode. 26 Patienten mit hereditären NME im Alter von 12,7±4,7 Jahren wurden wegen SBAS (n=12) oder RI (n=14) während des Nachtschlafs mit druckgesteuerten Beatmungsgeräten und Masken beatmet.Der Einfluss der NIB wurde durch Blutgasanalyse (BGA),Polysomnographie mit Kapnometrie (PtcCO2) und mit einem Symptomfragebogen vor Therapiebeginn und 3 Tage sowie 3 Monate nach Beginn der NIB untersucht. Ergebnisse. Die NIB normalisierte Atmung und Gasaustausch im Schlaf und bei Patienten mit RI auch die BGA am Tag.Unter NIB kam es zu einer signifikanten Abnahme der EEG-Weckereignisse und der Herzfrequenz. Nach 3 Monaten Therapie wurde eine signifikante Verbesserung der Symptome angegeben (alle p<0,001). Schlussfolgerung. Die intermittierende nächtliche NIB normalisiert schlafbezogene Atmungsstörungen und respiratorische Insuffizienz und führt so zu einer relevanten Besserung der assoziierten Symptome.AbstractIntroduction. Sleep-disordered breathing (SDB) and respiratory failure (RF) are inevitable consequences of progressive neuromuscular disorders (NMD).The aim of the study was to investigate the immediate impact of noninvasive ventilation (NIV) on SDB, gas exchange, and symptoms in children and adolescents with advanced NMD. Methods. Twenty-six children and adolescents with NMD, aged 12.7±4.7 years,were ventilated noninvasively during sleep because of SDB (n=12) or chronic RF (n=14).Pressure assisted ventilation was applied via masks.The influence of NIV was assessed with arterial blood gas (ABG),polysomnography and capnometry (PtcCO2), and a symptom questionnaire before institution of NIV, after 3 days and after 3 months of NIV. Results. NIV normalized ABG in patients with daytime RF and nocturnal respiration and gas exchange. NIV resulted in a significant reduction of sleep arousals and nocturnal heart rate.Patients reported a significant improvement in symptoms (p<0.001 for all). Conclusions. In children with NMD, intermittent nocturnal NIV normalizes sleep-disordered breathing and respiratory failure and thereby improves symptoms as well.

Progrediente neuromuskuläre Erkrankungen

ZusammenfassungHintergrund. Das chronische Atemmuskelversagen ist eine zwangsläufige Folge der meisten progredienten neuromuskulären Erkrankungen (NME) des Kindesalters.Es manifestiert sich zunächst als schlafbezogene Atmungsstörung (SBAS) und erst im Endstadium als respiratorische Insuffizienz (RI) am Tag. Patienten. Untersucht wurden 50 Kinder und Jugendliche mit NME (11,2±4,3 Jahre). Methode. Die inspiratorische Vitalkapazität (IVC), die maximale inspiratorische Muskelkraft (Pimax) und arterielle Blutgase (PaO2, PaCO2) wurden gemessen, eine Polysomnographie (PSG) und Kapnometrie (PtcCO2) wurden abgeleitet. Ergebnisse. Es bestand ein signifikanter Zusammenhang zwischen der IVC (%Soll) und dem Pimax (r=0,77), der IVC und dem Gasaustausch am Tag [PaO2 (r=0,55),PaCO2 (r=−0,63)] sowie der IVC und dem Gasaustausch im Schlaf [SaO2 (r=0,71),PtcCO2 (r=−0,74)].Bei 36 Kindern (72%) wurden Apnoen,Hypopnoen oder eine Hypoventilation während des Schlafs nachgewiesen, 12 (24%) Patienten hatten zusätzlich eine RI. Die Schwere der Atemstörung korrelierte mit der IVC (r=0,82).Das Auftreten von SBAS und RI konnte durch eine IVC <60% bzw. <25% mit einer Wahrscheinlichkeit von 94% bzw.71% vorhergesagt werden. Schlussfolgerung. SBAS und RI sind eine häufige Komplikation des chronischen Atemmuskelversagens.Die Kombination von Lungen- und Atemmuskelfunktionsuntersuchungen mit der PSG erlaubt eine genaue Beschreibung der respiratorischen Funktion und Reserve.Dies hat klinisch relevante Implikationen für das weitere Management, die Prognoseabschätzung und die Indikationsstellung zur nichtinvasiven Beatmung bei Kindern mit NME.AbstractBackground. Chronic respiratory muscle failure is an inevitable complication of many progressive childhood neuromuscular disorders (NMD) that becomes evident as sleep disordered breathing (SDB) or daytime respiratory failure (RF). Patients. 50 children and adolescents with NMD (11.2±4.3 years). Methods. Measurement of inspiratory vital capacity (IVC), maximum inspiratory pressure (Pimax),arterial blood gases (PaO2,PaCO2) and complete polysomnography (PSG) including capnometry (PtcCO2). Results. There was a significant correlation between IVC (%predicted) and Pimax (r=0.77), IVC and daytime gas exchange [PaO2 (r=0.55),PaCO2 (r=−0.63)] and IVC and nocturnal gas exchange [SaO2 (r=0.71), PtcCO2 (r=−0.74)].Apnoeas,hypopnoeas or hypoventilation during sleep were seen in 36 patients (72%),12 children (24%) had additional daytime RF.The severity of the respiratory disturbance correlated with IVC (r=0.82).The occurrence of SDB or RF could be predicted from IVC <60% and <25%,respectively; positive predictive values were 94% and 71%. Conclusion. SDB and RF are frequent complications of chronic respiratory muscle failure. The combination of lung and respiratory muscle testing with PSG gives a detailed description of respiratory function and reserve. This has important clinical implication for further disease management, assessment of prognosis and the indication of noninvasive ventilation in children with NMD.