Mikhail Kazachkov1, Jose-Alberto Palma2, Lucy Norcliffe-Kaufmann2, Bat-El Bar-Aluma3, Christy L Spalink2, Erin P Barnes2, Nancy E Amoroso4, Stamatela M Balou5, Shay Bess6, Arun Chopra7, Rany Condos4, Ori Efrati3, Kathryn Fitzgerald8, David Fridman4, Ronald M Goldenberg4, Ayelet Goldhaber9, David A Kaufman4, Sanjeev V Kothare10, Jeremiah Levine9, Joseph Levy9, Anthony S Lubinsky4, Channa Maayan11, Libia C Moy9, Pedro J Rivera4, Alcibiades J Rodriguez12, Gil Sokol3, Mark F Sloane4, Tina Tan13, Horacio Kaufmann14. 1. Department of Pediatric Pulmonology, New York University School of Medicine, New York, NY, United States; Gastroesophageal, Upper Airway and Respiratory Diseases Center, New York University School of Medicine, New York, NY, United States. 2. Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, NY, United States. 3. Pediatric Pulmonary Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Israel. 4. Department of Medicine, Division of Pulmonary, Critical Care, and Sleep Medicine. New York University School of Medicine, New York, NY, United States. 5. Department of Otolaryngology-Head and Neck Surgery, New York University School of Medicine, New York, NY, United States. 6. Department of Orthopedic Surgery, New York University School of Medicine, New York, NY, United States. 7. Department of Pediatrics, Division of Pediatric Critical Care, New York University School of Medicine, New York, NY, United States. 8. Department of Pediatric Pulmonology, New York University School of Medicine, New York, NY, United States. 9. Department of Pediatrics, Pediatric Gastroenterology Unit, New York University School of Medicine, New York, NY, United States. 10. Department of Neurology, Pediatric Sleep Medicine Unit, New York University School of Medicine, New York, NY, United States. 11. Department of Pediatrics. Hebrew University-Hadassah Medical School, Jerusalem, Israel. 12. Department of Neurology, Sleep Laboratory, New York University School of Medicine, New York, NY, United States. 13. Gastroesophageal, Upper Airway and Respiratory Diseases Center, New York University School of Medicine, New York, NY, United States. 14. Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, NY, United States. Electronic address: Horacio.Kaufmann@nyumc.org.
Abstract
BACKGROUND: Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. METHODS: We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial Dysautonomia Patient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. RESULTS: Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, non-invasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy. CONCLUSIONS: Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.
BACKGROUND:Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia. METHODS: We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial DysautonomiaPatient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system. RESULTS: Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, non-invasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy. CONCLUSIONS: Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.
Authors: Gordon H Guyatt; Andrew D Oxman; Gunn E Vist; Regina Kunz; Yngve Falck-Ytter; Pablo Alonso-Coello; Holger J Schünemann Journal: BMJ Date: 2008-04-26