Survival in familial dysautonomia: Impact of early intervention.
OBJECTIVE
To assess the effectiveness of advances in supportive centralized care on survival and function in patients with familial dysautonomia (FD).


METHODS
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.


CONCLUSIONS
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.
Axelrod
Felicia B
FB
Department of Pediatrics, New York University School of Medicine, New York City, New York, USA.
Goldberg
Judith D
JD
Ye
Xiang Y
XY
Maayan
Channa
C
D000293:Adolescent; D000328:Adult; D002170:Canada; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004402:Dysautonomia, Familial / Q000401:mortality*; D018479:Early Intervention, Educational; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007557:Israel; D008297:Male; D016016:Proportional Hazards Models; D016019:Survival Analysis; D013997:Time Factors; D014481:United States