Faculty Bibliography

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.

The primary aim of this study was to investigate the immediate effects of partial versus complete head rotation and chin tuck on pharyngeal swallowing pressures and durations in the pharynx and UES of normal, healthy adults. Ten individuals (3 men and 7 women; age range 54-76 years) served as participants. Solid-state intraluminal manometry was performed with the participants in the upright position while performing swallows with the head in the normal position, head rotated (partial and complete), chin tucked, and chin down. A cervical range of motion (CROM) inclinometer was used to accurately measure the degree of head rotation and chin tuck. The CROM inclinometer has not been used before so this is the first study to our knowledge to quantify degree of head rotation and chin tuck. Manometric data derived from these healthy participants indicate both partial and complete head rotations can increase the duration of UES relaxation and decrease UES residual pressure. Chin tuck may be effective in increasing durations in the upper pharynx. Partial chin tuck (chin down) decreases UES residual pressure. Complete head rotation and chin tuck provide more overall benefit than partial maneuvers. However, for patients with limited head and neck mobility, partial posture changes impact the pharynx in similar ways and may provide clinically meaningful benefits. Additional research on patient populations is warranted.

Context: While clinical successes and descriptions have been reported in a few texts, no data exist to define the utility of flow phonation to improve voice quality in patients with laryngeal hyperfunction. Aims: To provide pilot data regarding the utility of three exercises (gargling, cup bubble blowing, and stretch-and-flow) to improve phonatory airflow during voicing in patients with laryngeal hyperfunction. Settings and Design: Outpatient Voice and Swallowing Center in a University Medical Center. Materials and Methods: Participants received five treatment sessions and were evaluated prior to treatment and after each session using a Phonatory Aerodynamic System to measure airflow during voicing tasks. Noise-to-harmonic ratio and perceptual voice measures were also obtained, as was self-perception of voice handicap. Statistical Analysis Used: Repeated All increased airflow and decreased laryngeal airway resistance over five sessions. Measures Analysis of Variance. Results: Six participants completed the protocol. All participants decreased self-perception of voice handicap and improved on noise-to-harmonic ratio and perceptual ratings of vocal quality. Conclusions: Data derived on a small sample of patients in an exploratory investigation suggest further research into the use of these three exercises to improve airflow with voicing and improve vocal quality in patients with laryngeal hyperfunction is warranted