Familial dysautonomia's impact on quality of life in childhood, adolescence, and adulthood.

AIM: To evaluate the quality of life (QoL) of children, adolescents, and adults treated for familial dysautonomia (FD), a pervasive neurological disorder. METHODS: The Child Health Questionnaire was completed by parents of 71 patients, while an additional 74 patients completed the Short Form--36. RESULTS: FD imposed a greater physical than psychosocial burden on the child, while the young adults reported both mental and physical quality of life within the average range. Self-esteem was problematic and improved with age, while both groups reported lowering physical quality of life as they grew older, with worsening general health that limited their role at school or work. CONCLUSION: Younger FD patients should be closely monitored for lowered self-esteem and referred for counseling when appropriate, while physical and occupational therapy should be provided in advance of expected lowered physical QoL and role fulfillment with increasing age. This becomes important as the need for additional surgical interventions, such as fundoplication with gastrostomy or spinal fusion, contribute to lower physical functioning. Given the high degree of parental involvement required for the varied manifestations of this multisystem disorder, the need for continued parental assessment and psycho-education about this chronic medical illness is warranted.

Assessing efficacy of high-frequency chest wall oscillation in patients with familial dysautonomia.

STUDY OBJECTIVE: To determine the benefits of daily use of high-frequency chest wall oscillation (HFCWO) in familial dysautonomia (FD) patients with lung disease. DESIGN: Pulmonary function tests, chest radiographs, and blood tests were performed on entry to the study. A retrospective chart review of 12 months prior to entry provided baseline data regarding respiratory illnesses, medications, doctor visits, hospitalizations, and absenteeism. Daily logs provided prospective data on these parameters as well as HFCWO usage. Evaluations were performed at 1, 3, 6, 9, and 12 months for pulse oximetry, spirometry, and log review. At the exit evaluation, blood tests and chest radiographs were repeated. PATIENTS: Fifteen FD patients with history of lung disease requiring daily inhalation therapy (7 female and 8 male; age range, 11 to 33 years) were enrolled in a 1-year clinical trial of HFCWO therapy. Two subjects withdrew after 3 months and 6 months, respectively. Each individual served as his/her own control. RESULTS: Oxygen saturation improved by 1 month (median, 97.5%; interquartile range [IQR], 96 to 98%; vs median, 94%; IQR, 89 to 96%) and was sustained at exit evaluation (median, 98%; IQR, 98 to 98%) [p = 0.004]. Median FVC and peak expiratory flow rate (PEFR) were the pulmonary function measures with sustained improvement from baseline to exit (p = 0.02 and p = 0.03, respectively). When retrospective and prospective data were compared, all measured health outcomes improved significantly, including pneumonias (p = 0.0156), hospitalizations (p = 0.0161), antibiotic courses (p = 0.0005), antibiotic days (p = 0.0002), doctor visits (p = 0.0005), and absenteeism (p = 0.0002). CONCLUSION: In this limited study of FD patients, HFCWO effected significant improvements in all measured health outcomes and oxygen saturation; FVC and PEFR were the pulmonary function measures demonstrating sustained improvement.