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• W2025944963 abstract "•Respiratory insufficiency is the primary cause of mortality in congenital muscle disorders.•Changes in respiratory function are driven by abnormal chest wall mechanics.•New recommendations for surveillance include a baseline assessment at the time of diagnosis.•The assessment includes an overnight sleep study, a daytime blood gas, radiography and spirometry.•Airway clearance includes cough augmentation and secretion mobilization techniques. The 203rd ENMC/Cure CMD workshop on congenital muscle disorder respiratory physiology is the 2nd workshop on respiratory impairment in neuromuscular conditions. The workshop brought together 17 clinicians and experts in sleep medicine, pulmonary function testing, applied respiratory physiology and clinical outpatient and peri-operative management of early onset congenital muscle disorders from 8 different countries. Respiratory insufficiency is the primary cause of morbidity and mortality for congenital onset muscle disorders, which includes congenital muscular dystrophy (CMD), congenital myopathy (CM) and congenital myasthenic syndrome (CMS) [1Hull J. Aniapravan R. Chan E. et al.British Thoracic Society guideline for respiratory management of children with neuromuscular weakness.Thorax. 2012; 67: i1-40Crossref PubMed Scopus (196) Google Scholar, 2Dohna-Schwake C. Ragette R. Mellies U. et al.Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I.Neurology. 2004; 62: 513-514Crossref PubMed Scopus (26) Google Scholar]. Taken together these disorders represent a heterogeneous group of primary muscle disorders that present with hypotonia within the first two years of life [3Bonnemann C.G. Wang C.H. Quijano-Roy S. et al.Diagnostic approach to the congenital muscular dystrophies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 289-311Abstract Full Text Full Text PDF PubMed Scopus (213) Google Scholar, 4North K.N. Wang C.H. Clarke N. et al.Approach to the diagnosis of congenital myopathies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 97-116Abstract Full Text Full Text PDF PubMed Scopus (193) Google Scholar]. These disorders have only recently been genetically defined and longitudinal studies that assess and compare the onset, the progression and cause of respiratory insufficiency using non-invasive and invasive testing are lacking. Based upon what is known of disease pathophysiology, changes in respiratory function are likely driven by either early onset stable or progressive diaphragmatic, and/or intercostal, and/or abdominal wall muscle weakness; possible scoliosis; that may be associated with subtype-specific costo-vertebral contractures and/or bulbar dysfunction. These changes, which lead to abnormal chest wall mechanics, may impact lung and chest wall compliance, lung volumes and gas exchange. Respiratory complications have serious indirect effects such as caregiver days off work, patient days off school, fatigue and failure to thrive combined with augmented resource utilization (durable medical equipment costs, hospitalizations, intensive care unit admissions). These highlight the importance of identifying an early intervention and consistent treatment approaches and a consideration of primary respiratory endpoints for future clinical trials. Thus, meeting objectives focused upon 1) a standard approach to respiratory assessment 2) revised criteria to evaluate sleep study abnormalities and need for intervention 3) ventilation strategies and 4) use of airway clearance in the congenital muscle disorders. The meeting highlighted the need for ongoing clinical research to define how congenital onset disorders differ in assessment and management from later onset neuromuscular disorders, the definition and frequency of respiratory and sleep assessment abnormalities and the response to interventions. Developing guidelines for practice patterns for the congenital muscle disorders requires a basic understanding of the molecular and physiologic heterogeneity, a pragmatic clinical approach to differentiating various physiologic patterns and key subtype considerations that impact management. Accurate prevalence numbers are lacking, due to under-recognition and lack of confirmatory genetic testing. While these disorders individually are rare, together they represent a significant number of patients typically seen in pulmonary practice. Most pulmonologists remain unfamiliar with recent strides in genetic testing and the categorization of these disorders based upon clinical, histopathologic and genetic data. The initial approach to any neurologic evaluation of a congenital muscle disease patient typically involves a history, a serum creatine kinase level, an electromyogram and a muscle biopsy [3Bonnemann C.G. Wang C.H. Quijano-Roy S. et al.Diagnostic approach to the congenital muscular dystrophies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 289-311Abstract Full Text Full Text PDF PubMed Scopus (213) Google Scholar, 4North K.N. Wang C.H. Clarke N. et al.Approach to the diagnosis of congenital myopathies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 97-116Abstract Full Text Full Text PDF PubMed Scopus (193) Google Scholar]. While a generic approach to respiratory surveillance and management of these disorders is possible, the pulmonologist who develops an understanding of certain key distinctions between disease subtypes may anticipate complications and provide more optimal care through tailored surveillance (Table 1). Neuromuscular features that correlate with a higher morbidity include: pronounced axial weakness (persistent head lag and poor head control), inability to achieve ambulation, bulbar dysfunction and spinal rigidity with contractures, even if ambulant. The majority of these genetic disorders are on a phenotypic spectrum, ranging from a severe early onset to later onset (childhood or adulthood) milder disease [3Bonnemann C.G. Wang C.H. Quijano-Roy S. et al.Diagnostic approach to the congenital muscular dystrophies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 289-311Abstract Full Text Full Text PDF PubMed Scopus (213) Google Scholar, 4North K.N. Wang C.H. Clarke N. et al.Approach to the diagnosis of congenital myopathies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 97-116Abstract Full Text Full Text PDF PubMed Scopus (193) Google Scholar].Table 1Congenital muscle disorder overview.Congenital myopathy (CM)Congenital muscular dystrophy (CMD)Congenital myasthenic syndrome (CMS)Disease courseTypically stable course, with improvement in function and progression later on in lifeEarly stable course with progressive declineSlowly improving strength, fluctuating weakness (on daily, weekly basis) returning to a baselineNeonatal respiratory distressYes (Myotubular myopathy, Nemaline myopathy)Less likely, except (Walker–Warburg Syndrome)Yes (CHAT, COLQ)Key exam findingsPtosis, bulbar dysfunction (No fluctuation)No ptosis or bulbar dysfunctionPtosis, bulbar dysfunction (Fluctuates on a daily, weekly basis)Cognitive impairmentNoYes, only alpha-dystroglycanopathy subtypeNoElevated serum CKNoYesNoMuscle biopsyMyopathicDystrophicNonspecificSubtypes (More common genes involved)Centronuclear (MTM, DNM2, TTN, RYR1, BIN1), Core (RYR1, TTN), Nemaline (Rod) (ACTA1, NEB, TPM2, TPM3, CFL2, KHLH40/41, LMOD3 ) Congenital Fiber Type Disproportion (TPM3, TPM2, RYR1, SEPN1, ACTA1)Collagen VI-CMD, LAMA2 CMD (MDC1A), alpha Dystroglycanopathy-CMD (FKRP, FUKUTIN, LARGE, POMT2, POMT1, POMGNT1 GMPPB, ISPD), SEPN1-CMD, LMNA-CMDPre-Synaptic (CHAT), Synaptic (COLQ, LAMB2), Post-Synaptic including Fast and Slow Channel Syndromes (CHRNA1, CHRNB1, CHRND, CHRNE, DOK7, RAPSN, Agrin, MuSK)Key findingsThough thought to be stable, can have increasing respiratory impairment in later years and those on tracheotomy/ventilator from birth require setting re-evaluation annuallyCardiac involvement possibleLMNA, SEPN1 may have profound axial weaknessCollagen VI and SEPN1 may develop respiratory failure while ambulant due to selective diaphragmatic dysfunction [5]Quijano-Roy S. Khirani S. Colella M. et al.Diaphragmatic dysfunction in Collagen VI myopathies.Neuromuscul Disord. 2014; 24: 125-133Abstract Full Text Full Text PDF PubMed Scopus (25) Google ScholarCardiac involvement possibleTreatment with mestinon may improve strength and respiratory functionIntercurrent illness may lead to a sudden profound respiratory crisis, including respiratory arrestCardiac involvement less likely Open table in a new tab Consensus guidelines for disease diagnosis and management have been published only recently [3Bonnemann C.G. Wang C.H. Quijano-Roy S. et al.Diagnostic approach to the congenital muscular dystrophies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 289-311Abstract Full Text Full Text PDF PubMed Scopus (213) Google Scholar, 4North K.N. Wang C.H. Clarke N. et al.Approach to the diagnosis of congenital myopathies. Neuromuscular disorders.Neuromuscul Disord. 2014; 24: 97-116Abstract Full Text Full Text PDF PubMed Scopus (193) Google Scholar, 6Wang C.H. Bonnemann C.G. Rutkowski A. et al.Consensus statement on standard of care for congenital muscular dystrophies.J Child Neurol. 2010; 25: 1559-1581Crossref PubMed Scopus (145) Google Scholar]. Typical recommendations include annual pulmonary function testing starting at age 5 years with increased screening frequency in individuals with a forced vital capacity (FVC) of less than 80%. Indeed, based upon recent retrospective studies, many patients initial FVC may be below 60% at the age of 5 years [2Dohna-Schwake C. Ragette R. Mellies U. et al.Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I.Neurology. 2004; 62: 513-514Crossref PubMed Scopus (26) Google Scholar, 7Foley A.R. Quijano-Roy S. Collins J. et al.Natural history of pulmonary function in collagen VI-related myopathies.Brain. 2013; 136: 3625-3633Crossref PubMed Scopus (60) Google Scholar]. However, most guidelines have not addressed respiratory surveillance under the age of 5 years. In children with congenital onset muscle disorders, failure to thrive and repeat chest infections are helpful markers of overt respiratory failure when present. The clinical exam alone can neither quantify nor predict degree of respiratory failure. Typical pulmonary endpoints, including maximal inspiratory and expiratory pressures and FVC are volitional tests, which make them difficult or impossible to interpret in young or non-cooperative children [[8]Nicot F. Hart N. Forin V. et al.Respiratory muscle testing: a valuable tool for children with neuromuscular disorders.Am J Respir Crit Care Med. 2006; 174: 67-74Crossref PubMed Scopus (86) Google Scholar]. Pulmonary reserve may also mask initial decline in function until volume is affected. Thus, typical pulmonary endpoints may not be sensitive enough to identify early asymptomatic changes in chest wall apparatus mechanics nor contribute to surveillance of respiratory dysfunction in the very young. Clinical assessments of respiratory strength testing are limited in the child under the age of 5 years and in those with bulbar dysfunction. Recommendations by the ENMC conference participants include a careful history and exam with an emphasis on recent chest infections, hospitalizations, feeding difficulties and fatigue. Common data elements for respiratory assessments, polysomnography and pulmonary function of children and adults with neuromuscular conditions are available at http://www.commondataelements.ninds.nih.gov. Recommendations by the ENMC Committee for standard quantifiable assessments in children with congenital onset disorders include the following investigations at the time of diagnosis (Table 2). Obtaining an early assessment will enable the pulmonologist to recognize the need for an early intervention that was not clinically apparent, and can serve as an important baseline to plot trends in respiratory health.Table 2Proposed respiratory assessment at diagnosis in congenital muscle disorders.InvestigationAt diagnosisEvery 12–24 monthsMore frequently than once per year, if clinical symptoms (recurrent chest infections)Overnight sleep assessmentPolysomnography (PSG) OR polygraphy (PG) OR continuous overnight oximetry with trans-cutaneous carbon dioxide (TcC02) if PSG/PG not availableXXXRadiologyChest X-rayXXXRespiratory muscle function testingVital capacity upright and supine [9]Fromageot C. Lofaso F. Annane D. et al.Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders.Arch Phys Med Rehabil. 2001; 82: 123-128Abstract Full Text Full Text PDF PubMed Scopus (134) Google Scholar, Peak cough flow (with face mask if leaks with mouthpiece), Sniff Nasal Inspiratory Pressure (SNIP) [10]Fauroux B. Aubertin G. Cohen E. et al.Sniff nasal inspiratory pressure in children with muscular, chest wall or lung disease.Eur Respir J. 2009; 33: 113-117Crossref PubMed Scopus (42) Google Scholar, Maximal Inspiratory Pressure (MIP), Maximal Expiratory Pressure (MEP)XDaytime gas exchangeBlood gas (arterial or capillary or venous) with pH and serum bicarbonateXXXSpot pulse oximetryaSpot pulse oximetry, TcC02 or EtC02 can be performed in clinic, while awake, though a more useful reading may be obtained during a nap or overnight.XXXTrans-cutaneous or End-Tidal CO2 (TcC02 or EtC02)aSpot pulse oximetry, TcC02 or EtC02 can be performed in clinic, while awake, though a more useful reading may be obtained during a nap or overnight.XXXa Spot pulse oximetry, TcC02 or EtC02 can be performed in clinic, while awake, though a more useful reading may be obtained during a nap or overnight. Open table in a new tab These recommendations acknowledge the limitations of obtaining quantifiable and consistent data in children under the age of 5 years. To address these limitations, the recommendations place a heavy emphasis on early and annual testing including evaluations during wakefulness and sleep to identify respiratory abnormalities that might benefit from early intervention. Nocturnal hypoventilation lies on a continuum beginning with sleep disordered breathing (SDB) and ending with diurnal hypercapnia. Nocturnal hypoventilation during REM sleep is an indication to initiate positive pressure ventilation treatment in children with muscle disorders (Table 3) [[11]Ragette R. Mellies U. Schwake C. et al.Patterns and predictors of sleep disordered breathing in primary myopathies.Thorax. 2002; 57: 724-728Crossref PubMed Scopus (209) Google Scholar].Table 3Proposed sleep study criteria for intervention in congenital muscle disorders.Oxygenationa.Minimum SpO2 <90% for more than 2% of sleep time and/or >5 minutes of total sleep time.b.Mean SpO2 <94%c.Oxygen desaturation index [drops >3% each episode] occurring >5 events/hourCarbon dioxidea.Maximum TcCO2 > 50 mmHg for more than 2% of sleep time or > 5 minutes of total sleep time.b.↑TcCO2 or end tidal CO2 >10 mmHg from baseline awake level.c.Repeated ↑TcCO2 or end tidal CO2 >5 mmHg between NREM and REM sleepd.End tidal CO2 >45 mmHg for more than 25% of sleep timeSleep structurea.Sleep efficiency <75%.b.REM sleep <15% sleep time.Respiratory eventsa.Apnoea Hypopnea Index [AHI] >5 events/hourb.REM AHI >10 events/hour Open table in a new tab The incidence of SDB with or without nocturnal hypoventilation in distinct forms of congenital muscle disorders is unknown; nor has its association with disorders prone to bulbar dysfunction, axial weakness and spinal rigidity with contracture phenotypes been established. However, patients with elective diaphragm dysfunction such as those with Collagen VI myopathies, must be screened early for sleep-disordered breathing [[5]Quijano-Roy S. Khirani S. Colella M. et al.Diaphragmatic dysfunction in Collagen VI myopathies.Neuromuscul Disord. 2014; 24: 125-133Abstract Full Text Full Text PDF PubMed Scopus (25) Google Scholar]. In addition, the interpretation of a PSG/PG in a young child with neuromuscular disease differs from that with a child with obstructive sleep apnea (OSA). Indeed, children with neuromuscular disease will present periods of reduced thoracic and abdominal movements, resulting in a reduced flow with consequent desaturations and possible hypercapnia. These “hypoventilation events” are not defined on the actual PSG/PG scoring which has been established for children with OSA. An analysis of a PSG/PG exclusively on the apnea/hypopnea index (AHI) may thus underestimate the sleep-disordered breathing in a child with neuromuscular disease. A young child with neuromuscular disease may present with other causes of SDB (i.e. obstructive sleep apnea due to enlarged tonsils and adenoids). Children with congenital muscle disorders resulting in nocturnal hypoventilation or daytime hypercapnia should be supported with non-invasive ventilation (NIV) [[12]Mellies U. Ragette R. Schwake C. et al.Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders.Eur Respir J. 2003; 22: 631-636Crossref PubMed Scopus (145) Google Scholar]. There is no evidence that one kind of ventilatory mode (volume preset, pressure preset or pressure preset with assured volume) is better than another, but in some circumstances one mode may offer an advantage(s). The goal of NIV is to maintain or deliver an appropriate tidal volume and minute ventilation during the entire night-time sleep. Any treatable cause of OSA (adenotonsillectomy) should be managed after the start of NIV by a team having expertise in otolaryngology and neuromuscular diseases. Initiating NIV prior to surgical evaluation for adenotonsillectomy will address potential difficulties in managing the airway and ventilation post-operatively in the setting of an underlying neuromuscular disorder. Continuous positive airway pressure (CPAP) should not be used in children with neuromuscular disorders, as it is unable to treat nocturnal hypoventilation due to respiratory muscle weakness. Children with congenital muscle disorders should be ventilated with a back-up rate, to control sleep disordered breathing (SDB) especially in REM sleep. The backup rate should be set near the spontaneous awake respiratory rate as patients may be tachypneic at baseline. Optimal ventilatory settings should be established with at minimum an overnight oximetry and capnography recording to ensure control of nocturnal hypoventilation and optimal synchrony with ventilator [[13]Paiva R. Krivec U. Aubertin G. et al.Carbon dioxide monitoring during long-term noninvasive respiratory support in children.Intensive Care Med. 2009; 35: 1068-1074Crossref PubMed Scopus (91) Google Scholar]. A PG is recommended to assess correct NIV settings [[14]Caldarelli V. Borel J.C. Khirani S. et al.Polygraphic respiratory events during sleep with noninvasive ventilation in children: description, prevalence, and clinical consequences.Intensive Care Med. 2013; 39: 739-746Crossref PubMed Scopus (24) Google Scholar]. To evaluate patient response to intervention, a careful query of parents and the child if old enough to answer, to determine the impact of ventilation on both parental and patient sleep quality and quality of life is important. In children with congenital onset muscle disease resulting in daytime dyspnea and/or hypercapnia, daytime mouthpiece or nasal interface ventilation improves symptoms and respiratory muscle endurance. NIV can be used to treat respiratory insufficiency and facilitate physiotherapy in acute respiratory infections. The combination of NIV and cough augmentation techniques may reduce or delay the need for tracheostomy ventilation. Familiarization with NIV and cough augmentation techniques is encouraged as part of the preparation prior to scoliosis surgery and gastrostomy with or without Nissen fundoplication [[15]Khirani S. Bersanini C. Aubertin G. et al.Non-invasive positive pressure ventilation to facilitate the post-operative respiratory outcome of spine surgery in neuromuscular children.Eur Spine J. 2014; 23: S406-S411Crossref PubMed Scopus (38) Google Scholar]. Ideally, parents are provided with instruction and family is given appropriate equipment several weeks prior to surgery to have both parents and the child become accustomed to equipment. Tracheostomy ventilation may offer advantages over NIV in ventilator dependent patients with severe bulbar dysfunction and/or aspiration. Patients and families should be familiarized with home ventilation and a safety management strategy should be in place before being discharged home. Quality of life, control of symptoms, efficacy of ventilation and adherence to NIV should be monitored. Difficulties in clearing bronchial secretions represent the primary cause of mortality and morbidity in congenital muscle disorders. Techniques of airway clearance (ACTs) must be selected to offer adequate solutions to clear secretions from the lungs [6Wang C.H. Bonnemann C.G. Rutkowski A. et al.Consensus statement on standard of care for congenital muscular dystrophies.J Child Neurol. 2010; 25: 1559-1581Crossref PubMed Scopus (145) Google Scholar, 16Wang C.H. Dowling J.J. North K. et al.Consensus statement on standard of care for congenital myopathies.J Child Neurol. 2012; 27: 363-382Crossref PubMed Scopus (103) Google Scholar]. It is important to distinguish between cough augmentation techniques (clearance of central and upper airways) and secretion mobilization techniques (clearance of peripheral airways) (Table 4) [[17]Boitano L.J. Management of airway clearance in neuromuscular disease.Respir Care. 2006; 51 (discussion 22–4): 913-922PubMed Google Scholar].Table 4Airway clearance techniques in congenital muscle disorders.TechniquesPatient ageCategoryDescription0–2 years2–5 years>5 yearsCough augmentationMI–EaExpensive material required.++++++++Manual assisted cough+++++Inspiratory aids (AS/NIVaExpensive material required./IPPBaExpensive material required.)+++++++Mucus mobilizationIPVaExpensive material required.++++++Chest oscillationsaExpensive material required.+++Assisted AD+++Protection of airwaysOral suction++++++++Lying on the side+++Legends: + sometimes effective; ++ often effective; +++ a priori recommended.MI–E: Mechanical Insufflation–Exsufflation; AS: Air-stacking; NIV: Non Invasive Ventilation; IPPB: Intermittent Positive Pressure Breathing; IPV: Intrapulmonary Percussive Ventilation.a Expensive material required. Open table in a new tab Legends: + sometimes effective; ++ often effective; +++ a priori recommended. MI–E: Mechanical Insufflation–Exsufflation; AS: Air-stacking; NIV: Non Invasive Ventilation; IPPB: Intermittent Positive Pressure Breathing; IPV: Intrapulmonary Percussive Ventilation. Mechanical insufflation–exsufflation (MI–E) should be the first choice for cough augmentation in patients at all ages and should be a standard offering in all specialized NMD centers [[1]Hull J. Aniapravan R. Chan E. et al.British Thoracic Society guideline for respiratory management of children with neuromuscular weakness.Thorax. 2012; 67: i1-40Crossref PubMed Scopus (196) Google Scholar]. MI–E can be used in infants but is challenging and requires experienced care givers who can synchronize the augmented breaths with the patient's own breaths [[18]Chatwin M. Bush A. Simonds A.K. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I.Arch Dis Child. 2011; 96: 426-432Crossref PubMed Scopus (75) Google Scholar]. In children, the effectiveness of cough can be subjectively assessed by a louder cough maneuver and by secretion expectoration. Cough strength in this group of patients can be objectively assessed by peak cough flow (PCF) and there are reference values for children available [[19]Bianchi C. Baiardi P. Cough peak flows: standard values for children and adolescents.Am J Phys Med Rehabil. 2008; 87: 461-467Crossref PubMed Scopus (88) Google Scholar]. PCF can be performed in children as young as 4 years old. Intrapulmonary percussive ventilation (IPV) can be used to mobilize secretions from the peripheral airways, open areas of atelectasis and improve homogeneity of ventilation [[19]Bianchi C. Baiardi P. Cough peak flows: standard values for children and adolescents.Am J Phys Med Rehabil. 2008; 87: 461-467Crossref PubMed Scopus (88) Google Scholar]. Because IPV is a passive therapy, without the need for patient compliance, it can be implemented in the very young; including in neonates [[20]Riffard G. Toussaint M. [Indications for intrapulmonary percussive ventilation (IPV): a review of the literature].Rev Mal Respir. 2012; 29: 178-190Crossref PubMed Scopus (15) Google Scholar]. Setting parameters of IPV is complex and requires education of the caregiver [[21]Riffard G. Toussaint M. [Intrapulmonary percussion ventilation: operation and settings].Rev Mal Respir. 2012; 29: 347-354Crossref PubMed Scopus (18) Google Scholar]. External high frequency chest wall oscillation therapy can be used in children of variety of age, including infants but are of uncertain value since it just mobilizes peripheral secretions and still requires a cough maneuver for complete clearance [[22]Keating J.M. Collins N. Bush A. et al.High-frequency chest-wall oscillation in a noninvasive-ventilation-dependent patient with type 1 spinal muscular atrophy.Respir Care. 2011; 56: 1840-1843Crossref PubMed Scopus (16) Google Scholar]. Assisted autogenic drainage (holding the individual at different lung volumes, manually or by strapping) is useful to mobilize mucus and requires minimal equipment; however, it is not well described in neuromuscular patients. In case of bulbar paralysis and/or difficult management of saliva due to poor swallowing and under clearance of saliva, regular suction in the mouth along the side of the tongue (every hour in infants 0–2) is essential. However, care must be given to restrict oral suctioning to the oropharynx and posterior pharynx, without blind suctioning beyond and on or below the vocal cords, which can cause unnecessary glottic trauma. Importantly, when infants are in bed, preference must be given to lie on the side to allow spontaneous flow of saliva out of the mouth [1Hull J. Aniapravan R. Chan E. et al.British Thoracic Society guideline for respiratory management of children with neuromuscular weakness.Thorax. 2012; 67: i1-40Crossref PubMed Scopus (196) Google Scholar, 23Gauld L.M. Airway clearance in neuromuscular weakness.Dev Med Child Neurol. 2009; 51: 350-355Crossref PubMed Scopus (21) Google Scholar]. In addition, in situations of hypersalivation secretion reduction medicines such as anticholinergic medications (glycopyrrolate and scopolamine) can be used to help dry secretions. Where secretion mobilizing techniques fail due to tenacious secretions, nebulization of saline or other mucolytics may be indicated with great care in order to avoid an increase in bronchial encumbrance. In a rare subset of patients where ACTs become ineffective tracheostomy may be considered. In a subset of these disorders, cardiomyopathy and irregular heart rhythms may occur. The likelihood of cardiac involvement can be partially predicted by the underlying genetic defect responsible for muscle disease. Moreover, significant respiratory compromise can also contribute to cardiac dysfunction. Thus, coordinated care with a cardiologist familiar with neuromuscular disease is recommended. Cardiac monitoring should encompass ECG and echocardiography, and possibly cardiac MRI and Holter monitoring. In some cases, medical treatment may be warranted. This conference puts forth a novel respiratory surveillance and intervention plan for children with congenital muscle disorders. The recommendations can be summarized as: 1) early testing (at the time of diagnosis), 2) comprehensive testing to assess respiratory parameters both during wakefulness and sleep states at the time of diagnosis, 3) a lower threshold for intervention with non-invasive ventilation (bilevel not continuous) to address both SDB and/or hypoventilation and 4) early parental teaching of airway clearance techniques. These recommendations place a heavy emphasis on the use of overnight sleep testing to provide quantifiable early assessments of respiratory impairment. Waiting until age 5 years to initiate respiratory assessments, such as pulmonary function testing, misses an opportunity to identify SDB and nocturnal hypoventilation and an opportunity to intervene. Conference participants acknowledge that these proposed standards for assessment and intervention will need to be prospectively validated. The impact of an intervention for either SDB or nocturnal hypoventilation in the very young on short-term outcomes (chest wall shape, rate of hospitalization, rate of chest wall infection, SNIP) and long-term outcomes (trends of SNIP, FVC, hospitalization and mortality) has not been established. Research is needed to evaluate the effects of poor sleep quality on daily functioning, quality of life and the potential burden of NIV in these young children. Indeed, it is possible that reduced sleep quality, sleep fragmentation and the disruption of normal sleep cycles affect the neurocognitive development of these children before the stage of overt respiratory failure. Patient adherence to early interventions, such as NIV for SDB versus nocturnal hypoventilation also will need to be assessed in the context of outcomes. Clinical trial readiness and decades of basic science research are preparing the congenital muscle disorder community for first clinical trials. As therapeutic targets to preserve and improve skeletal muscle mass and function mandate shifting trials to younger cohorts, additional challenges will include the identification of pulmonary endpoints in the very young, ages 0–5 years and the asymptomatic. For those children with early dependency on full time ventilator support, identifying opportunities to characterize ventilatory support through timed weaning trials and validating changes in ventilator settings and hours on ventilator as surrogate endpoints may allow this cohort to participate in clinical trials. Whether thoracic imaging or the use of novel noninvasive techniques such as the optoelectronic plethysmography to induce a respiratory challenge would provide rigorous, reproducible measurements of chest wall apparatus mechanics remain untested in this cohort. PSG/PG has both a clinical application to determine initiation of an intervention (ventilation) and a potential role as a clinical trial endpoint. Goals for the next decade include the development of prospective clinical research studies to test hypotheses regarding management principles in these disorders. Validating a standard approach to assessment and intervention would enable a broader population management approach for congenital and childhood muscle disorders that could provide a framework to define a standard set of health care goals, and thus, lead to greater accountability for care delivered and a decrease in mortality and morbidity. CMD Respiratory Physiology Consortium:•Anne Rutkowski, Kaiser SCPMG and Cure CMD, Los Angeles, USA•Michelle Chatwin, Royal Brompton, London, UK•Anastassios Koumbourlis, Children's National Medical Center, Washington D. C., USA•Brigitte Fauroux, Hôpital Necker, Paris, France•Anita Simonds, Royal Brompton, London, United Kingdom•Oscar Henry Mayer, Children's Hospital of Philadelphia, Philadelphia, USA•Hemant Sawnani, Cincinnati Children's Hospital Medical Center, Cincinnati, USA•Joshua Benditt, University of Washington, Seattle, USA•Dominic Fitzgerald, Children's Hospital, Westmead, Australia•Michel Toussaint, Respiratory Therapist, Indendaal and Center for Home Mechanical Ventilation ZH Indendaal Rehabilitation Hospital, Brussels, Belgium•Barbara Smith, University of Florida, Gainesville, USA•Elizabeth McNally, University of Chicago, Chicago, USA•Susana Quijano Roy, Hopital Raymond Poincare, Garches, France•Reghan A. Foley, Department of Neurology, Children's University Hospital, Dublin, Ireland•Hans Fuchs, Uniklinik, Freiburg, Germany•Mary Schroth, University of Wisconsin Hospital, Madison, USA•Alexander Moeller, University Children's Hospital, Zurich, Switzerland ENMC Representative: Baziel van Engelen, Radboud University Nijmegen Medical Centre Department of Neurology, Nijmegen, The Netherlands. This Workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: Association Française contre les Myopathies (France) , Deutsche Gesellschaft für Muskelkranke (Germany) , Muscular Dystrophy Campaign (UK) , Muskelsvindfonden (Denmark) , Prinses Beatrix Spierfonds (The Netherlands) , Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland) , Telethon Foundation (Italy) , Spierziekten Nederland (The Netherlands) and Associated members: Finnish Neuromuscular Association (Finland) . We would also like to thank Cure Congenital Muscular Dystrophy and the Muscular Dystrophy Association (United States) for their generous financial support of this workshop." @default.
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• W2025944963 title "203rd ENMC international workshop: Respiratory pathophysiology in congenital muscle disorders: Implications for pro-active care and clinical research 13–15 December, 2013, Naarden, The Netherlands" @default.
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• W2025944963 doi "https://doi.org/10.1016/j.nmd.2014.11.003" @default.
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