OBJECTIVE: To assess the effectiveness of advances in supportive centralized care on survival and function in patients with familial dysautonomia (FD). STUDY DESIGN: From September l, 1969 through January 1, 2001. Five hundred fifty-one patients with FD entered the Dysautonomia Center. We divided the group into two cohorts: the first cohort (n = 227) entered until March 1, 1981, and the second cohort (n = 324) entered after March 1, 1981. Survival curves were compared by using log-rank tests. Demographic and disease characteristics were examined, including gender, geographic location, age at entry, birth weight, breath-holding history, age of walking, causes of death, and social data. RESULTS: For both cohorts age at entry was the primary variable that influenced survival; mortality increased by 3% per year. Survival time lengthened for cohort 2 when survival time was defined as time from entry into the Center to last observation or death; in cohort 2, mortality was 73% that of cohort 1 even after adjustment for age at entry. Although survival improved, causes of death were unchanged; sleep deaths and sudden deaths remained frequent. CONCLUSION: Our data indicate that the more recent cohort patients were younger at the time of entry and had improved survival, which suggests that early access to centralized and more advanced treatment appreciably benefits patients with familial dysautonomia.
OBJECTIVE: To assess the effectiveness of advances in supportive centralized care on survival and function in patients with familial dysautonomia (FD). STUDY DESIGN: From September l, 1969 through January 1, 2001. Five hundred fifty-one patients with FD entered the Dysautonomia Center. We divided the group into two cohorts: the first cohort (n = 227) entered until March 1, 1981, and the second cohort (n = 324) entered after March 1, 1981. Survival curves were compared by using log-rank tests. Demographic and disease characteristics were examined, including gender, geographic location, age at entry, birth weight, breath-holding history, age of walking, causes of death, and social data. RESULTS: For both cohorts age at entry was the primary variable that influenced survival; mortality increased by 3% per year. Survival time lengthened for cohort 2 when survival time was defined as time from entry into the Center to last observation or death; in cohort 2, mortality was 73% that of cohort 1 even after adjustment for age at entry. Although survival improved, causes of death were unchanged; sleep deaths and sudden deaths remained frequent. CONCLUSION: Our data indicate that the more recent cohort patients were younger at the time of entry and had improved survival, which suggests that early access to centralized and more advanced treatment appreciably benefits patients with familial dysautonomia.
Authors: Mikhail Kazachkov; Jose-Alberto Palma; Lucy Norcliffe-Kaufmann; Bat-El Bar-Aluma; Christy L Spalink; Erin P Barnes; Nancy E Amoroso; Stamatela M Balou; Shay Bess; Arun Chopra; Rany Condos; Ori Efrati; Kathryn Fitzgerald; David Fridman; Ronald M Goldenberg; Ayelet Goldhaber; David A Kaufman; Sanjeev V Kothare; Jeremiah Levine; Joseph Levy; Anthony S Lubinsky; Channa Maayan; Libia C Moy; Pedro J Rivera; Alcibiades J Rodriguez; Gil Sokol; Mark F Sloane; Tina Tan; Horacio Kaufmann Journal: Respir Med Date: 2018-06-21 Impact factor: 3.415
Authors: Max J Hilz; Sebastian Moeller; Susanne Buechner; Hanna Czarkowska; Indu Ayappa; Felicia B Axelrod; David M Rapoport Journal: J Clin Sleep Med Date: 2016-12-15 Impact factor: 4.062
Authors: Gabsang Lee; Eirini P Papapetrou; Hyesoo Kim; Stuart M Chambers; Mark J Tomishima; Christopher A Fasano; Yosif M Ganat; Jayanthi Menon; Fumiko Shimizu; Agnes Viale; Viviane Tabar; Michel Sadelain; Lorenz Studer Journal: Nature Date: 2009-08-19 Impact factor: 49.962