Abordaje respiratorio del paciente con enfermedad neuromuscular en la unidad de cuidado intensivo pediátrica / Respiratory approach to the patient with neuromuscular disease in the pediatric intensive care unit

En algunas ocasiones, los pacientes con enfermedades neuromusculares infantojuveniles, pueden requerir internación en unidades de cuidados intensivos pediátricos. La principal causa de ingreso hospitalario es la insuficiencia respiratoria aguda, desencadenada por atelectasias y neumonías que, en la mayoría de los casos, tienen su inicio en infecciones del tracto respiratorio superior. Independientemente de su forma de presentación, las enfermedades neuromusculares en periodo infantojuvenil, pueden comprometer en grados distintos a los 3 grupos musculares vinculados a la ventilación pulmonar y protección glótica. Es posible dar asistencia a los músculos inspiratorios y espiratorios con soporte ventilatorio no invasivo y asistencia mecánica de la tos respectivamente. Esta estrategia combinada permite el manejo no invasivo de este tipo de pacientes, logrando extubar o decanular a aquellos considerados potencialmente no destetables con las estrategias clásicas utilizadas en unidades de cuidados intensivos en pediatría. El objetivo de esta revisión es sugerir recomendaciones en cuidados respiratorios no invasivos para pacientes con enfermedades neuromusculares ingresados en unidades de paciente crítico pediátrico. Se presentan 2 casos clínicos ilustrativos, en los cuales estas estrategias fueron utilizadas en forma exitosa.

On some occasions, patients with childhood and adolescent neuromuscular diseases may require hospitalization in pediatric intensive care units. The main cause of hospital admission is acute respiratory failure triggered by atelectasis and pneumonia, which, in most cases, start with upper respiratory tract infections. Regardless of their form of presentation, neuromuscular diseases in children and adolescents can damage the 3 muscle groups linked to pulmonary ventilation and glottic protection to different degrees. Inspiratory and expiratory muscles can be assisted with noninvasive ventilatory support and mechanical cough assist, respectively. This combined strategy allows the non-invasive management of this type of patients, managing to extubate or decannulate those considered potentially unweanable with the classic strategies used in pediatric intensive care units. The aim of this review is present noninvasive respiratory care recommendations for patients with neuromuscular diseases admitted to pediatric intensive critical care unit and illustrated with clinical reports of two patients treated with these strategies successfully.

Enfermedad neuromuscular en pediatría: estudio descriptivo de los pacientes asistidos en la policlínica de Neumología Pediátrica del Centro Hospitalario Pereira Rossell en el período 1/6/2006-31/12/2019 / Pediatric neuromuscular disease: study of patients assisted at the Pediatric Pneumology department of the Pereira Rossell Pediatric Hospital during 1/6/2006-31/12/2019 / Doença neuromuscular em pediatria: estudo descritivo de pacientes atendidos no policlínio de Pneumologia Pediátrica do Hospital Pereira Rossell no período 1/6/2006-31/12/2019

Las enfermedades neuromusculares (ENM) afectan los distintos componentes de la unidad motora. Desde el diagnóstico deben ser seguidos por un equipo interdisciplinario, donde el neumólogo pediátrico desempeña un papel importante en la valoración de la pérdida de fuerza muscular cuando afecta a la musculatura respiratoria o de la vía aérea superior. Objetivos: conocer las diferentes enfermedades neuromusculares atendidas en el Centro Hospitalario Pereira Rossell, analizar las características de la población y describir los resultados de los principales estudios solicitados por la policlínica de neumológica pediátrica. Metodología: estudio descriptivo, analítico y retrospectivo de los pacientes con enfermedad neuromuscular atendidos en el Centro Hospitalario Pereira Rossell entre el 1/6/2006 y el 31/12/2019. Resultados: las patologías neuromusculares más frecuentemente encontradas fueron distrofias musculares, miopatías, distrofia miotónica de Steinert y atrofia muscular espinal. No tienen diagnóstico definitivo 21/73 pacientes. La espirometría mostró una alteración restrictiva en la mayoría de los pacientes. Para descartar trastornos respiratorios del sueño se realizó oximetría nocturna con gasometría al despertar. La hipoventilación nocturna y las apneas obstructivas fueron las alteraciones encontradas. En 12/73 se inició ventilación no invasiva. Conclusiones: los pacientes con ENM experimentan un deterioro progresivo de la función respiratoria que contribuye a una elevada tasa de morbimortalidad. La evaluación y seguimiento regular de la función respiratoria junto con estudios de sueño, son fundamentales para el inicio oportuno de ventilación no invasiva.

Neuromuscular diseases (NMD) affect the different components of the motor system. As of diagnosis, they should be followed by an interdisciplinary team, in which pediatric pulmonologists play an important role in assessing the loss of muscle strength when NMD affects the respiratory or upper airway muscles. Objectives: to learn about the different neuromuscular diseases treated at the Pereira Rossell Hospital Center, to analyze the characteristics of this population and to describe the results of the main studies requested by the pediatric pulmonology clinic. Methodology: descriptive, analytical and retrospective study of patients with neuromuscular disease treated at the Pereira Rossell Hospital Center between 6/1/2006 and 12/31/2019. Results: the most frequent neuromuscular pathologies were muscular dystrophies, myopathies, Steinert's myotonic dystrophy and spinal muscular atrophy. 21/73 patients did not have a definitive diagnosis. Spirometry showed a restrictive alteration in most of the patients. To rule out respiratory sleep disorders, nocturnal oximetry with blood gas was performed upon awakening, with nocturnal hypoventilation and obstructive apneas being the alterations found. In 12/73 non-invasive ventilation was applied. Conclusions: patients with NMD experience a progressive deterioration of respiratory function that contributes to a high rate of morbidity and mortality. Regular evaluation and monitoring of respiratory function, along with sleep studies, are essential for the timely initiation of non-invasive ventilation.

As doenças neuromusculares (DNM) afetam os diferentes componentes da unidade motora. Desde o diagnóstico, os pacientes devem ser acompanhados por uma equipe interdisciplinar, onde o pneumologista pediátrico desempenha um papel importante na avaliação da perda de força muscular quando atinge a musculatura respiratória ou das vias aéreas superiores. Objetivos: conhecer as diferentes doenças neuromusculares tratadas no Centro Hospitalar Pereira Rossell, analisar as características desta população e descrever os resultados dos principais estudos solicitados à policlínica de pneumologia pediátrica. Metodologia: estudo descritivo, analítico e retrospectivo de pacientes com doenças neuromusculares atendidos no Centro Hospitalar Pereira Rossell entre 01/06/2006 e 31/12/2019. Resultados: as patologias neuromusculares mais encontradas foram distrofias musculares, miopatias, distrofia miotônica de Steinert e atrofia muscular espinhal. 21/73 pacientes não tiveram um diagnóstico definitivo. A espirometria mostrou alteração restritiva na maioria dos pacientes. Para afastar distúrbios respiratórios do sono, foi realizada oximetria noturna com gasometria ao despertar, sendo a hipoventilação noturna e as apneias obstrutivas as alterações encontradas. Em 12/73 foi iniciada ventilação não invasiva. Conclusões: os pacientes com DNM experimentam uma deterioração progressiva da função respiratória que contribui para uma alta taxa de morbidade e mortalidade. A avaliação regular e o monitoramento da função respiratória, juntamente com os estudos do sono, são essenciais para o início oportuno da ventilação não invasiva.

Clinical features of sleep-disordered breathing in children with neuromuscular disease / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features of sleep-disordered breathing (SDB) in children with neuromuscular disease (NMD).@*METHODS@#A retrospective analysis was performed on the medical data of 18 children who were diagnosed with NMD and underwent polysomnography (PSG) (NMD group). Eleven children without NMD who had abnormal sleeping habit and normal sleep structure on PSG were enrolled as the control group. The two groups were compared in terms of the daily and nocturnal symptoms of SDB, incidence rate of obstructive sleep apnea (OSA), pulmonary function, end-tidal partial pressure of carbon dioxide (PetCO@*RESULTS@#In the NMD group, 16 children (89%) had related daily and nocturnal symptoms of SDB, and the youngest age was 1 year at the onset of such symptoms. Compared with the control group, the NMD group had significant reductions in total sleep time and sleep efficiency (@*CONCLUSIONS@#There is a high proportion of children with SDB among the children with NMD, and SDB can be observed in the early stage of NMD, which results in the damage of sleep structure and the reduction in sleep efficiency. Respiratory events are mainly obstructive events, and oxygen reduction events are mainly observed during REM sleep.

Soporte ventilatorio no invasivo en insuficiencia ventilatoria aguda severa en adolescentes con enfermedad neuromuscular y obesidad: estudio de casos / Non-invasive ventilatory support in severe acute ventilatory failure in adolescents with neuromuscular disease and obesity: study of cases

Noninvasive ventilatory support (NIVS) combined with mechanical cough assist (MI-E) is an effective tool to treat patients with acute ventilatory failure due to neuromuscular disorders (NMD). Airway respiratory infection could be lethal or with risk of endotraqueal intubation, especially when vital capacity (VC) is less than 15 ml/k. We report 2 obese adolescents, aged 11 and 14 years old, with myasthenic crisis (MC) and Duchenne muscular dystrophy (DMD). The last one with a severe cifoescoliosis treated with nocturnal noninvasive ventilation at home. MC girl has been treated with pyridostigmine, prednisolone and mycophenolate. They were admitted for thymectomy and spinal surgery arthrodesis respectively. After admission they developed airway respiratory infection triggering by Methaneumovirus and were treated with oxygen therapy, non-invasive ventilation with low-pressure support and EV immunoglobulin for the MC girl. After 48 h both patients developed severe respiratory failure, Sa/FiO2 < 200, atelectasis of lower lobes and difficulty to swallow, a peak cough flow (PFT)

El soporte ventilatorio no invasivo (SVNI) y la rehabilitación respiratoria con apilamiento de aire más tos asistida manual o mecánica, son efectivas para tratar la insuficiencia ventilatoria aguda en pacientes con enfermedades neuromusculares (ENM) y deterioro progresivo de la bomba respiratoria. Las agudizaciones gatilladas por infecciones respiratorias causan insuficiencia ventilatoria aguda potencialmente mortal y con alto riesgo de intubación, en especial cuando la capacidad vital (CV) es < de 15ml/k. Se reportan 2 adolescentes obesos con ENM de 11 y 14 años con miastenia gravis y distrofia muscular de Duchenne (DMD) con asistencia ventilatoria no invasiva nocturna con baja presión de soporte (AVNI), ingresados para timectomía y artrodesis de columna respectivamente. Una vez ingresados evolucionan con insuficiencia ventilatoria aguda secundaria a una infección respiratoria por Metaneumovirus. Inicialmente fueron manejados con oxigenoterapia, AVNI y gamaglobulina endovenosa en el caso de la paciente con crisis miasténica (CM). A las 48h presentan dificultad respiratoria severa, Sa/FiO2 < 200, atelectasias bibasales y disfagia, CV de 800ml (11ml/k) en el paciente con CM y de 200 ml (2,5ml/k) en el paciente con DMD y un pico flujo tosido (PFT) < 100 l/m. Se cambia a SVNI con equipo Trilogy® y BipapA40®, en modalidad S/T (espontáneo/tiempo) y AVAPS (volumen promedio asegurado en presión de soporte) con altos parámetros ventilatorios; suspendiendo rápidamente la oxigenoterapia, al combinar tos mecánicamente asistida con in-exsufflator (MI-E) en forma intensiva. Ambos pacientes presentan mejoría clínica sostenida, de la CV, PFT y pico flujo exuflado máximo con MI-E (PFE-MI-E). El SVNI más la aplicación sistemática del MI-E hasta lograr SaO2 de al menos 95% con oxígeno ambiental evita la intubación endotraqueal en ENM, a diferencia del agravamiento producido por AVNI y oxigenoterapia con criterios clásicos.

Actualización en el manejo respiratorio de pacientes con enfermedades neuromusculares / Update in the respiratory management of patients with neuromuscular diseases

Resumen: Los días 24 y 25 de noviembre del 2016, en Montevideo, Uruguay, tuvo lugar un encuentro de capacitación en cuidados respiratorios no invasivos con más de 200 profesionales médicos, kinesiólogos y licenciadas de enfermería. El encuentro fue presidido por el Dr. John Bach, Director Médico del Centro de Ventilación Mecánica No Invasiva en la Escuela de Medicina de Rutgers, New Jersey en Newark, New Jersey, quien es reconocido a nivel mundial por su amplia trayectoria en estudios y trabajos publicados sobre ventilación no invasiva y enfermedades neuromusculares Los cuidados respiratorios no invasivos, combinando la asistencia ventilatoria, inicialmente nocturna y luego durante las 24 horas del día, incluso en pacientes con capacidad vital mínima, y la implementación de estrategias para asistencia de la tos y respiración glosofaríngea, han contribuido a una mejor calidad de vida y sobrevida de los pacientes con enfermedades neuromusculares. Los avances tecnológicos, la capacitación de los pacientes y sus cuidadores facilitan su estadía en el hogar sin depender de instituciones o cuidados de enfermería permanentes promoviendo su autonomía e integración. Resulta esencial que los profesionales de la salud, conozcan todas las opciones terapéuticas posibles para ofrecer a sus pacientes y sus familias, de modo que, conforme avanza la enfermedad, ellos puedan expresar sus voluntades en forma anticipada y sin apremios derivados de eventos "inesperados". Es necesario impulsar un cambio de paradigma en la forma en que los profesionales de la salud ven a estos individuos. Las recomendaciones claves de ese encuentro están resumidas en este artículo.

Summary: A November 2016 Noninvasive Ventilatory Support workshop and meeting with more than 200 medical professionals, physiotherapists, respiratory therapists and nurses took place in the city of Montevideo, Uruguay. It was conducted by Dr. John Robert Bach, Medical Director of the Center for Non-Invasive Mechanical Ventilation at Rutgers New Jersey School of Medicine in Newark, New Jersey, who is recognized worldwide for his extensive background in studies and publications on noninvasive ventilation and neuromuscular diseases. Non-invasive respiratory care which combines ventilatory support initially at night and then support continuously 24 hours per day, even in patients with minimal vital capacity combined with the implementation of specifics techniques for assisted coughing and glossopharyngeal breathing have contributed to a better quality of life and survival of patients with neuromuscular diseases. Technological advances and proper training for patients and caregivers facilitates the patient's ability to stay at home and also promotes their autonomy and integration, without them having to depend on hospice or permanent nursing care. It is essential for health care professionals to know all the therapeutic possibilities available for their patients and share with both the patients and the patient's family, so as the disease progresses it will help everyone clearly understand all options during conscious decision-making. It is necessary to promote a paradigm shift in the way health professionals approach individuals with neuromuscular diseases. The key recommendations from that meeting are summarized in this article.

Telemonitorización del soporte ventilatorio domiciliario / Telemonitoring of domiciliary ventilatory support

More than 1,000 patients have been admitted to the pediatric ventilatory assistance program of the Chilean Ministry of Health. There are two subprograms depending on the complexity of patients. Since 2006 we have had the non-invasive home ventilatory assistance program (AVNI in Spanish) and the home invasive ventilatory assistance program (AVI in Spanish), derived from the AVNI program in 2008. Both provide coverage for patients under the age of 20, which complements the health network by delivering technology, home visits by professionals and respiratory supplies to ensure an adequate stay at the patients' homes with their families. It is in this context that remote telemonitoring emerges as an alternative to monitor the ventilatory therapy of these patients at home, which consists of remotely monitoring all ventilatory therapy; at present, there exist different tools to achieve this goal. The objective of this review is to describe the main telemonitoring systems available in Chile and their usefulness to check respiratory therapy in patients requiring home ventilatory support. As healthcare technology advances, the survival rate of patients requiring chronic ventilatory support increases; this situation, together with the high costs of hospital management for the health system and families, has brought about, in the last few years, the creation of home ventilatory support programs in Chile's public health system. In this context, telemonitoring emerges as a tool to optimize monitoring and timely adjustment of ventilatory parameters in patients receiving ventilatory support at home. It also seeks to reduce costs and increase safety

Actualmente han ingresado al programa de asistencia ventilatoria pediátrico del Ministerio de Salud de Chile más de 1000 pacientes. Existen dos sub programas dependiendo de la complejidad de los pacientes, es así como tenemos al programa de asistencia ventilatoria no invasiva domiciliaria (AVNI), que surgió durante el año 2006, y el programa de asistencia ventilatoria invasiva domiciliaria (AVI) que nace derivado del programa AVNI a partir del año 2008. Ambos entregan cobertura a pacientes menores de 20 años, complementando a la red de salud entregando la tecnología, visitas de profesionales en domicilio y una canasta de insumos respiratorios que aseguren una adecuada estancia en domicilio de los pacientes, junto a sus familias. Es en este contexto la telemonitorización a distancia surge como una alternativa para el seguimiento de la terapia ventilatoria de éstos pacientes en domicilio, la cual consiste en la monitorización en forma remota de toda la terapia ventilatoria , existiendo diferentes herramientas en la actualidad para llevala a cabo. El objetivo de esta revisión es describir los principales sistemas de telemonitorización disponibles en Chile, y su utilidad en la monitorización a distancia la terapia respiratoria de los pacientes que requieren soporte ventilatorio domiciliario. El avance de la tecnología sanitaría ha impactado en una mayor sobrevida de pacientes que requieren soporte ventilatorio crónico, el manejo hospitalario de estos pacientes tiene elevados costos para el sistema sanitario y las familias. En respuesta a esto durante los últimos años se han creado en el sistema público de salud de Chile programas de soporte ventilatorio domiciliario. En este contexto la telemonitorización surge como una herramienta que permite optimizar el seguimiento y el ajuste oportuno de los parámetros ventilatorios en los pacientes que reciben soporte ventiltorio domiciliario. Además busca disminuir los costos y aumentar la seguridad

Cuidados respiratorios para pacientes con enfermedades neuromusculares / Respiratory care for patients with neuromuscular diseases

Non-invasive respiratory care, combining with ventilatory support, initially at night and then during 24 hours/day, even in patients with minimal vital capacity and the implementation of specifics techniques like mechanically assisted coughing, glossopharyngeal breathing and air stacking, have contributed to a better quality of life and survival of patients with neuromuscular diseases. It is essential for health care professionals to know all the therapeutic possibilities for their patients and their families, so as the disease progresses it would facilitate their decision-making. Technological advances and proper training for patients and caregivers facilitate the stay at home and promote their autonomy and integration, without depending on hospital nor permanent nursing care. In November 2016 it was carried out the Noninvasive Ventilatory Support workshop/meeting with more than 200 physicians, physiotherapists, respiratory therapists and nurses in Montevideo, Uruguay. It was conducted by Dr. John Robert Bach, Medical Director of the Center for Non-Invasive Mechanical Ventilation at Rutgers New Jersey School of Medicine in Newark, New Jersey. Dr Bach is recognized worldwide for his extensive background in studies and publications on noninvasive ventilation and neuromuscular diseases.

Los cuidados respiratorios no invasivos, combinando la asistencia ventilatoria, inicialmente nocturna y luego durante las 24 h del día, incluso en pacientes con capacidad vital mínima, más la implementación de estrategias complementarias de tos asistida, respiración glosofaríngea y apilamiento de aire (air stacking) en forma activa o pasiva han contribuido a una mejor calidad de vida y sobrevida de los pacientes con enfermedades neuromusculares. Resulta esencial que los profesionales de la salud, conozcan todas las opciones terapéuticas al informar a sus pacientes y sus familias, de modo que ellos puedan tomar sus mejores decisiones en la medida que la debilidad e hipoventilación progresen. Los avances tecnológicos, la capacitación de los pacientes y sus cuidadores facilitan su estadía en el hogar sin depender de instituciones o cuidados de enfermería permanentes, promoviendo su autonomía e integración, disminuyendo el riesgo de falla respiratoria conducente a intubación endotraqueal y/o a traqueostomia. Los días 24 y 25 de noviembre del 2016, en Montevideo tuvo lugar un encuentro de capacitación en cuidados respiratorios no invasivos con más de 200 profesionales médicos, kinesiólogos y licenciadas de enfermería, destacando los avances y experiencia consolidad por el Dr. John Bach en más de 30 años de ejercicio profesional en pacientes con síndromes de hipoventilación secundario a enfermedades neuromusculares y otras condiciones que debilitan la bomba respiratoria. Las recomendaciones claves se resumen en este articulo, destacando como estos avances requieren impulsar un cambio de paradigma en la forma en que los profesionales de la salud ven y tratan a estos individuos.

Estudios de sueño en pacientes con enfermedades neuromusculares / Sleep breathing disorders in children with neuromuscular diseases

Sleep disordered breathing (SDB) is frencuent en pediatric patients with neuromuscular diseases, generated by different should be conduced early and with a preset frecuency, even more if there is the clinical suspicion of SDB and respiratory function imparment. There are different diagnostic studies, each with its advantages and disadvantages. Polysomnography is considered the reference standard and alternatively, pólygraphy has shown a high level of correlation with respiratory events

Los trastornos respiratorios del sueño (TRS) son frecuentes en los pacientes pediátricos con enfermedades neuromusculares, siendo generados por diversos mecanismos fisiopatológicos que usualmente llevan a hipoventilación y síndrome de apnea hipopnea obstructiva del sueño. la indicación de estudio debe ser precoz y con una periocidad prestablecida, más aún frente a la sospecha clínica del TRS y al constatar alteraciones funcionales respiratorias. Existen disitintos estudios para su diagnóstico y seguimiento, incluso en pacientes con soporte ventilatorio no invasivo; cadas uno con ventajas e inconvenientes particulares. Destaca la polisomnografía, como estándar de referencia y como alternativa, la poligrafía que ha demostrado tener un alto índice de correlación con eventos respiratorios

Múltiplas causas de síncope em pacientes com distrofia miotônica tipo I / Multiple causes of syncope in patients with myotonic dystrophy type I

A distrofia miotônica é a doença neuromuscular mais frequente na população adulta. Embora tenha caráter multissistêmico, apresenta especial predileção pelo sistema de condução cardíaco, manifestando-se tanto com bloqueios atrioventriculares como com taquiarritmias ventriculares e supraventriculares. O foco deste trabalho é apresentar, através do relato de um caso, a importância de uma investigação mais detalhada dos casos de síncope em pacientes portadores de distrofia miotônica, pois alterações inaparentes e potencialmente graves podem passar despercebidas

Myotonic dystrophy is the most frequent neuromuscular disease in the adult population. Although it is a multisystem disease, it usually has a special preference for the cardiac conduction system manifesting itself as atrioventricular conduction block and as ventricular and supraventricular tachyarrhythmias. The focus of this work is to use a case report to demonstrate the importance of a more detailed investigation of syncope in patients with myotonic dystrophy, since unapparent and potentially serious changes may go by unnoticed

Management of Ventilatory Insufficiency in Neuromuscular Patients Using Mechanical Ventilator Supported by the Korean Government

Since 2001, financial support has been provided for all patients with neuromuscular disease (NMD) who require ventilatory support due to the paralysis of respiratory muscles in Korea. The purpose of this study was to identify ventilator usage status and appropriateness in these patients. We included 992 subjects with rare and incurable NMD registered for ventilator rental fee support. From 21 February 2011 to 17 January 2013, ventilator usage information, regular follow-up observation, and symptoms of chronic hypoventilation were surveyed by phone. Home visits were conducted for patients judged by an expert medical team to require medical examination. Abnormal ventilatory status was assessed by respiratory evaluation. Chronic respiratory insufficiency symptoms were reported by 169 of 992 subjects (17%), while 565 subjects (57%) did not receive regular respiratory evaluation. Ventilatory status was abnormal in 102 of 343 home-visit subjects (29.7%). Although 556 subjects (56%) reported 24-hour ventilator use, only 458 (46%) had an oxygen saturation monitoring device, and 305 (31%) performed an airstacking exercise. A management system that integrates ventilator usage monitoring, counselling and advice, and home visits for patients who receive ventilator support could improve the efficiency of the ventilator support project.

Doença neuromuscular terminal: o cruzamento da pneumologia com a terapia intensiva / End-stage neuromuscular disease: the intersection between pulmonary and intensive care

Doenças neuromusculares evoluem com o acometimento do sistema respiratório, e a insuficiência respiratória crônica é a principal causa de mortalidade na grande maioria dos pacientes. Fraqueza da musculatura de inervação bulbar ou da musculatura respiratória podem causar tosse ineficaz e hipoventilação alveolar crônica. Disfunções de deglutição, aspiração de conteúdo gástrico, infecções de repetição e redução da complacência torácica são outras complicações pulmonares frequentes. O diagnóstico precoce, a prevenção e o tratamento destas complicações, como o uso de ventilação não invasiva e de técnicas de tosse assistida, podem melhorar significativamente a qualidade de vida e até prolongar a sobrevida destes doentes. O manejo terapêutico deve ser feito por equipe multidisciplinar, e de acordo com os desejos e preferências do paciente...

Neuromuscular diseases interfere with respiratory system function, and chronic respiratory failure is the main cause of mortality in these patients. Weakness of bulbar and respiratory muscles can impact cough efficacy and lead to chronic alveolar hypoventilation. Swallowing dysfunction, aspiration of gastric contents, recurrent respiratory infections, and reduction of thoracic compliance are all frequent events during the course of these patients. Early diagnosing, besides prevention and treatment of these events, surely ameliorate the quality of life of neuromuscular patients, and also seem to impact on survival. Therapeutic management should be multidisciplinary and must take into account the patient desires and preferences...

Estrategias terapéuticas para aumentar la eficacia de la tos en pacientes con enfermedades neuromusculares / Therapeutic strategies to increase the effectiveness of cough

Cough is a natural reflex that protects respiratory airways against infections or mucus retention. Cough maintains an adequate cleaning of the airways and is a mainstay of respiratory therapy. It can be triggered voluntarily by the patient or by a specific cough device. Peak cough flow (PCF) is used to assess the effectiveness of the cough. When this value is below 160 L/min, cough is considered inefficient and becomes a risk factor for respiratory problems. Patients with weak cough, especially those with neuromuscular disease, have in common a low tidal volume and a decreased maximum insufflation capacity. Both factors directly affect the inspiratory phase previous to cough, which is considered vital to obtain the optimum flow for a productive cough. Different therapeutic measures may help to increase cough efficiency among patients with cough weakness. These interventions may be performed using manual techniques or by mechanical devices. The aim of this review is to analyze the different techniques available for cough assistance, set a hierarchy of use and establish a scientific basis for their application in clinical practice.

Utilidad de un cuestionario clínico para el diagnóstico de trastornos respiratorios del sueño en niños con enfermedades neuromusculares / Usefulness of a clinical questionnaire for diagnosis of respiratory disorders of sleep in children with neuromuscular diseases

Objectives: To analyze the usefulness of a clinical questionnaire for the diagnosis of sleep disordered breathing in children with neuromuscular diseases. Patients and Methods: A sleep questionnaire and a polysom-nography were performed in a cohort of 21 children (14 boys) with neuromuscular diseases. ROC analysis was used to assess the diagnostic accuracy of the questionnaire for diagnosing sleep disordered breathing compared with polysomnography. Results: Median age was 10.7 years (2-17). According to polysomnography, 8 patients were classified as normal, 3 had primary snoring, 5 had central sleep apnea syndrome and 5 an obstructive sleep apnea syndrome. Eleven questionnaire's scores suggested sleep disordered breathing. The questionnaire's score showed a sensitivity of 75 percent, specificity of 60 percent, positive predictive value of 33 percent and negative predictive value of 90 percent for the diagnosis of an obstructive sleep apnea syndrome. The same figure for the diagnosis of a central sleep apnea syndrome was 80 percent, 64 percent, 44 percent and 90 percent. Conclusions: The questionnaire showed a moderate sensitivity and specificity. Nevertheless, the high negative predictive value of the questionnaire may support its use for screening of sleep disordered breathing. A follow-up of questionnaire's scores may identify patients, who would benefit from performance of polysomnography.

Objetivos: Analizar la utilidad de un cuestionario clínico para el diagnóstico de los trastornos respiratorios del sueño (TRS) en niños con enfermedades neuromusculares (ENM). Pacientes y Métodos: Se realizó un cuestionario de sueño junto con una polisomnografía (PSG) en un grupo de 21 niños (14 varones) con ENM. Se realizó un análisis de validez diagnóstica de los resultados del cuestionario comparados con los de la PSG. Resultados: La mediana de edad fue de 10,7 años (2-17). De acuerdo a la PSG, se clasificó a 8 pacientes como normales, 3 roncadores primarios, 5 con síndrome de apneas centrales y 5 con síndrome de apneas obstructivas (SAOS). Once cuestionarios presentaron un puntaje sugerente de TRS. El puntaje del cuestionario presentó: sensibilidad 75 por ciento, especificidad 60 por ciento, valor predictivo positivo 33 por ciento y negativo 90 por ciento para el diagnóstico de SAOS. Respecto al diagnóstico de síndrome de apneas centrales del sueño, éste valores fueron: 80 por ciento, 64 por ciento, 44 por ciento y 90 por ciento. Conclusiones: El cuestionario clínico presentó una sensibilidad y especificidad moderada. Sin embargo, el alto valor predictivo negativo del cuestionario apoyaría su uso como tamizaje de los TRS. El seguimiento del puntaje de este cuestionario permitiría identificar aquellos pacientes que se beneficiarían de la realización de una PSG.

Estudios de sueño en niños con daño neurológico: ¿cuándo y por qué estudiar? / Sleep study in children with neurologic impairments: when and why need to study?

Sleep disordered breathing is frequent among children with neurologic impairments. underdiagnosis and misrecognition of this diseases seames to be important. In the present revision, major findings in children with cerebral palsy, neuromuscular disease and Down syndrome are summarized. Patients with cerebral palsy show several aspects which are associated and may worsen sleep disordered breathing. Children with neuromuscular diseases present with a characteristic pattern of sleep disordered breathing, which shows predominantely central hipopneas. On the other hand, patients with Down syndrome show a high prevalence of obstructive sleep apneas. Early recognition of sleep disordered breathing is important among children with neurologic impairments, as it may lead to an early treatment. The development of new screening methods for sleep disordered breathing maybe especially useful in children with underlying neurological diseases.

Los trastornos respiratorios del sueño (TRs) son frecuentes en niños con daño neurológico, existiendo un subdiagnóstico y desconocimiento importante de esta patología. En la presente revisión se resumen los hallazgos más importantes en niños con parálisis cerebral (PC), enfermedades neuromusculares (enm) y síndrome de Down. Los pacientes con PC presentan una serie de factores que empeoran y se asocian a los TRs. los niños con enm muestran un patrón de TRs característico, en el cual predomina la presencia de hipopneas centrales. Los pacientes con síndrome de Down, por otra parte, presentan una alta prevalencia de apneas obstructivas del sueño. El reconocimiento precoz de los TRs es fundamental en los niños con daño neurológico, ya que pudiera permitir un tratamiento precoz. El desarrollo de nuevos exámenes de pesquisa podría ser útil para la pesquisa precoz de los TRs en niños con daño neurológico de base.

Hipoventilação relacionada ao sono / Sleep hypoventilation

Tanto SHO como as doenças neuromusculares estão relacionadas à hipoventilação durante o sono. Define-se SHO como a combinação de obesidade, hipercapnia e hipoxemia crônica durante a vigília que se agrava durante o sono. Em 90 por cento dos casos, SHO está associada à apneia obstrutiva do sono. O diagnóstico baseia-se na presença de hipoventilação diurna e hipertensão pulmonar que não são justificadas por alterações da função pulmonar. A mortalidade dos pacientes com SHO é maior que aquela de pacientes sem hipoventilação e controlados para obesidade. As doenças neuromusculares são representadas principalmente pelas distrofias musculares. A progressão para insuficiência respiratória crônica surge como consequência da fraqueza dos músculos respiratórios e da limpeza inadequada das vias aéreas, causando atelectasias e pneumonias. Quando há uma redução maior que 50 por cento da forca muscular respiratória, ocorre uma diminuição na CV. A medida do pico de fluxo da tosse < 160 L/min está associada à limpeza inadequada das vias aéreas, e, com valores em torno de 270 L/min, há indicação de uso de técnicas de tosse assistida. A apneia obstrutiva do sono geralmente agrava a hipoventilação durante o sono. O suporte pressórico não invasivo durante a noite pode aumentar a sobrevida, melhorar os sintomas e a hipoventilação diurna. Além disso, no caso de doenças neuromusculares, pode diminuir o declínio da função pulmonar. A oxigenoterapia pode ser necessária nos casos de SHO.

Sleep hypoventilation is seen in patients with neuromuscular disease, as well as in those with obesity hypoventilation syndrome (OHS), which is defined as the combination of obesity, chronic hypercapnia, and hypoxemia during wakefulness that is aggravated during sleep. In 90 percent of cases, OHS is accompanied by obstructive sleep apnea. The diagnosis of OHS is based on hypoventilation and pulmonary hypertension that cannot be explained by alterations in pulmonary function. The mortality of patients with OHS is greater than is that of obese patients without hypoventilation. The principal neuromuscular diseases associated with OHS are the muscular dystrophies. The progression to chronic respiratory failure results from respiratory muscle weakness and impaired airway secretion clearance, causing atelectasis and pneumonia. With a decrease of greater than 50 percent in respiratory muscle strength, there is a reduction in VC. Cough peak flow < 160 L/min is associated with impaired airway secretion clearance, and values near 270 L/min indicate the need for assisted cough techniques. Obstructive sleep apnea usually worsens sleep hypoventilation. Noninvasive ventilation during sleep can improve survival, symptoms, and hypoventilation during wakefulness, as well as being able to improve pulmonary function in patients with neuromuscular disease. Patients with OHS can require oxygen therapy.

Recomendaciones para la evaluación quirúrgica de la escoliosis en niños con enfermedad neuromuscular / Surgical evaluation of scoliosis in children with neuromuscular disease

El compromiso respiratorio de los pacientes con enfermedad neuromuscular (ENM) incide en la historia natural de la enfermedad y en la calidad de vida del niño y su familia. La falla respiratoria es responsable de un número significativo de muertes prevenibles con una intervención precoz. Frecuentemente estos pacientes tienen escoliosis, que al progresar sin un tratamiento quirúrgico oportuno, aumenta la morbimortalidad por causa respiratoria, aumenta el compromiso cardiovascular e impide lograr posicionamiento sin dolor al perder la marcha y bipedoestación. En este artículo se abordan recomendaciones para la evaluación quirúrgica en niños con ENM, haciendo especial consideración de aspectos respiratorios, como la evaluación funcional y los coadyuvantes terapéuticos perioperatorios incluyendo la asistencia ventilatoria no invasiva y el entrenamiento respiratorio.

Análise da fadiga central e seu impacto na qualidade de vida dos pacientes portadores de doenças neuromusculares / Analysis of central fatigue and its impact in the quality of life of patients with neuromuscular diseases

Entende-se por doenças neuromusculares aquelas afecções decorrentes do acometimento primário da unidade motora, sendo que, nas crianças, a maior parte dessas afecções é geneticamente determinada. As doenças neuromusculares levam ao comprometimento progressivo da função pulmonar e motora, levando a alterações significativas destas e acentuando o surgimento da fadiga muscular central. A qualidade de vida é considerada como um importante indicador de prognóstico e de evolução das doenças neuromusculares, a qual é utilizada como forma de avaliar o risco de adoecer, além de indicador válido e importante dos benefícios globais do tratamento do paciente. O estudo teve o propósito de avaliar a fadiga central e seu impacto na qualidade de vida dos pacientes com doenças neuromusculares. Foi realizada uma avaliação contendo itens como idade, tempo de diagnóstico, funcionalidade, espirometria, pressão inspiratória e expiratória máximas, escala de severidade de fadiga, desempenho muscular e questionário de qualidade de vida. Na avaliação da qualidade de vida, notou-se que os pacientes avaliados não apresentavam sintomas de fadiga, mas, sintomas de depressão associados com relatos de insatisfação nos itens sobre relações sociais e meio ambiente. Sugere-se que os profissionais da área da saúde estejam aptos a reconhecer e saber diferenciar os sintomas de fadiga central dos sintomas de depressão, para que possam encaminhar os pacientes, no caso de depressão, também para o serviço psicológico e melhorar a qualidade de vida destes pacientes.

Neuromuscular disorders are understood as diseases affecting the motor unit, and in young children most of these diseases are genetic conditions. Neuromuscular disorder leads to pulmonary and motor function involvement causing central muscular fatigue. The quality of life is considered an important indicator of prognostic and evolution of neuromuscular disorder, and it is used to evaluate the possibility to get ill, and also as an important indicator of patient’s treatment benefits. The study aimed at evaluating central fatigue and its impact in quality of life patients with neuromuscular disorders. It was carried out an evaluation with the following items: age, time of diagnosis, functioning, espirometry, maximal inspiratory and expiratory flow, fatigue severity scale, muscular performance and a questionnaire about quality of life. It was observed that patients did not present symptoms of fatigue but, instead, symptoms of depression as reported in social relationship and environment on quality of life evaluation. We suggest that health professionals should be apt to recognize symptoms of central fatigue in order to differentiating from depression symptoms so that they will be able to conduct patients to the right treatment and improve patients’ quality of life.

Análise da funcionalidade e qualidade de vida em pacientes portadores de doenças neuromusculares / Analysis of functioning and quality of life in patients with neuromuscular diseases

Este estudo teve o propósito de analisar dados de funcionalidade e qualidade de vida, além de informações sobre idade, diagnóstico e tempo de diagnóstico, por meio de três avaliações fisioterapêuticas, no período de um ano e meio, dos pacientes portadores de doenças neuromusculares da ASCADIM (Associação Sul Catarinense de Amigos, Familiares e Portadores de Distrofias Musculares Progressivas). Os pacientes avaliados apresentaram queda da funcionalidade e qualidade de vida no decorrer do tempo, em todas as avaliações realizadas, sendo que a DMD (Distrofia Muscular de Duchenne) apresentou diferença significativa estatisticamente na avaliação da funcionalidade e na qualidade de vida quando comparada com os demais grupos de DNM (Doenças Neuromusculares). Sugere-se que o profissional fisioterapeuta, em sua rotina diária, esteja apto e ciente para avaliar a funcionalidade e a qualidade de vida desses pacientes, de forma seqüencial, para obter um diagnóstico preciso, possibilitando estruturar as intervenções de reabilitação, para assim avaliar e garantir bons resultados, além de melhorar a qualidade de vida de portadores de DNM.

This study aims at analyzing functioning and quality of life as well as age, diagnosis and the time of diagnosis of patients with neuromuscular disorders from ASCADIM (Sul Catarinense Association of Friends, Family and Patients with Progressive Muscular Dystrophy), through three physical therapy evaluations during a period of eighteen months. It was observed that patient’s functionality and quality of life was reduced in the course of time, in the three performed evaluations; however the DMD (Duchenne Muscular Dystrophy) showed a statistically significant difference in functioning and quality of life when compared with other groups with NMD (Neuromuscular Disorders). It is suggested that physical therapy professional, in daily routine, should be qualified and conscious to evaluate functioning and quality of life in a sequential way, in order to get an accurate diagnosis, making possible to organize rehabilitations interventions aiming to evaluate and obtain good results, and also improve quality of life of NMD patients.