RESUMEN
BACKGROUND: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness (BOI) in RTT was organized. METHODS: Based on literature reviews and qualitative interviews with parents of children and adults with RTT, a caregiver questionnaire was constructed to evaluate 22 problems (inclusive of core characteristics, functional impairments, and comorbidities) often experienced with RTT, rated mainly with a 5-level Likert scale. The questionnaire was administered anonymously online to an international sample of 756 caregivers (predominantly parents) of girls and women with RTT. Descriptive statistics were used to identify problems of high frequency and impact on affected individuals and caregivers. Chi-square tests characterized the relationship between problem severity and impact responses, while nonparametric ANOVAs of raw and z-score adjusted scores identified agreement between severity and impact on individual and caregiver. Secondary inferential tests were used to determine the roles of age, clinical type, and country of residence on BOI in RTT. RESULTS: There was variability in reported frequency of problems, with the most prevalent, severe and impactful being those related to the core features of RTT (i.e., communication and fine and gross motor impairments). Chi-square analyses demonstrated interdependence between severity and impact responses, while ANOVAs showed that many problems had disproportionately greater impact than severity, either on affected individuals (e.g., hand stereotypies) or their caregivers (e.g., sleep difficulties, seizures, pain, and behavioral abnormalities). With certain exceptions (e.g., breath-holding, seizures), age, clinical type, or country of residence did not influence these BOI profiles. CONCLUSIONS: Our data demonstrate that core features and related impairments are particularly impactful in RTT. However, problems with mild severity can also have disproportionate impact on affected individuals and, particularly, on their caregivers. Future analyses will examine the role of factors such as treatment outcomes, healthcare services, and healthcare provider's perspectives, in these BOI profiles.
Asunto(s)
Cuidadores , Costo de Enfermedad , Síndrome de Rett , Humanos , Cuidadores/psicología , Femenino , Encuestas y Cuestionarios , Adulto , Masculino , Adolescente , Niño , Adulto Joven , Calidad de Vida , Preescolar , Persona de Mediana EdadRESUMEN
None: Children with rare genetic diseases that cause respiratory dysregulation are at particularly high mortality risk due to development of respiratory failure. The tectonin ß-propeller-containing protein 2 (TECPR2) mutations are proposed to cause autophagy defect affecting axonal integrity and development of progressive neurodegenerative and neuromuscular disease. Published TECPR2 mutation cases have described a high prevalence of respiratory failure. We review respiratory pathology in previously published cases and a new case of a 5-year-old girl with previously undescribed TECPR2 mutation demonstrating progressive central apnea due to respiratory cycle dysregulation. This is the first TECPR2 mutation case to demonstrate an ataxic (Biot's) breathing pattern with consistently inconsistent inspiratory and expiratory times and with relatively intact chemoreception during sleep. Therefore, we propose that the central apnea index alone may not be the appropriate marker for mortality risk. Rather, the morbidity and mortality associated with TECPR2 mutations are multisystem in nature and this burden complicates the ultimate needs for ventilation support and prognosis.
Asunto(s)
Proteínas Portadoras/genética , Proteínas del Tejido Nervioso/genética , Insuficiencia Respiratoria , Apnea Central del Sueño , Autofagia , Preescolar , Femenino , Humanos , Mutación/genética , Sueño , Apnea Central del Sueño/genéticaRESUMEN
Pediatric airway disorders may be congenital (anatomical) or acquired (infectious) and may involve the upper, lower, or entire airway, with obstruction being a common feature. The pathophysiology of upper airway obstruction in infants, children, and adolescents is distinctly different due to the anatomic differences that evolve with growth. Accordingly, clinical presentation and consequences of airway obstruction vary by age. This article reviews the common upper airway disorders by age with a review of classic presentation, recommended diagnostic steps, and management considerations for the general pediatrician. [Pediatr Ann. 2019;48(4):e162-e168.].
Asunto(s)
Obstrucción de las Vías Aéreas/diagnóstico , Sistema Respiratorio/fisiopatología , Adolescente , Obstrucción de las Vías Aéreas/etiología , Obstrucción de las Vías Aéreas/terapia , Niño , Preescolar , Manejo de la Enfermedad , Humanos , LactanteRESUMEN
BACKGROUND: Children with chronic invasive ventilator dependence living at home are a diverse group of children with special health care needs. Medical oversight, equipment management, and community resources vary widely. There are no clinical practice guidelines available to health care professionals for the safe hospital discharge and home management of these complex children. PURPOSE: To develop evidence-based clinical practice guidelines for the hospital discharge and home/community management of children requiring chronic invasive ventilation. METHODS: The Pediatric Assembly of the American Thoracic Society assembled an interdisciplinary workgroup with expertise in the care of children requiring chronic invasive ventilation. The experts developed four questions of clinical importance and used an evidence-based strategy to identify relevant medical evidence. Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to formulate and grade recommendations. RESULTS: Clinical practice recommendations for the management of children with chronic ventilator dependence at home are provided, and the evidence supporting each recommendation is discussed. CONCLUSIONS: Collaborative generalist and subspecialist comanagement is the Medical Home model most likely to be successful for the care of children requiring chronic invasive ventilation. Standardized hospital discharge criteria are suggested. An awake, trained caregiver should be present at all times, and at least two family caregivers should be trained specifically for the child's care. Standardized equipment for monitoring, emergency preparedness, and airway clearance are outlined. The recommendations presented are based on the current evidence and expert opinion and will require an update as new evidence and/or technologies become available.
Asunto(s)
Servicios de Atención de Salud a Domicilio , Alta del Paciente , Respiración Artificial , Cuidadores , Niño , Enfermedad Crónica , Humanos , Pediatría , Sociedades , Estados UnidosRESUMEN
This is a summary of the presentation on pulmonary function testing in neuromuscular disorders presented as part of the program on pulmonary management of pediatric patients with neuromuscular disorders at the 30th annual Carrell-Krusen Neuromuscular Symposium on February 20, 2008.
Asunto(s)
Enfermedades Neuromusculares/diagnóstico , Pruebas de Función Respiratoria , Niño , Humanos , Mediciones del Volumen Pulmonar , Fuerza Muscular , Guías de Práctica Clínica como Asunto , Músculos Respiratorios , EspirometríaRESUMEN
This statement on the management of patients with Duchenne muscular dystrophy (DMD) undergoing procedural sedation or general anesthesia represents the consensus opinion of a multidisciplinary panel convened under the auspices of the American College of Chest Physicians. Expert recommendations on this subject are needed for several reasons. First, patients with DMD have an increased risk of complications when they undergo sedation or general anesthesia. In addition, due to improved cardiopulmonary therapies, patients with DMD are experiencing an unprecedented duration of survival. As a result, it is more common for them to require procedures involving sedation or general anesthesia. The risks related to anesthesia and sedation for DMD patients include potentially fatal reactions to inhaled anesthetics and certain muscle relaxants, upper airway obstruction, hypoventilation, atelectasis, congestive heart failure, cardiac dysrhythmias, respiratory failure, and difficulty weaning from mechanical ventilation. This statement includes advice regarding the highly interrelated areas of respiratory, cardiac, GI, and anesthetic management of patients with DMD undergoing general anesthesia or procedural sedation. The statement is intended to aid clinicians involved in the care of patients with DMD and to be a resource for other stakeholders in this field, including patients and their families. It is an up-to-date summary of medical literature regarding this topic and identifies areas in need of future research.