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


CONCLUSIONS
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.
Sands
Stephen A
SA
Department of Pediatrics, Herbert Irving Child and Adolescent Oncology Center, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA. ss2341@columbia.edu
Giarraffa
Philip
P
Jacobson
Colleen M
CM
Axelrod
Felicia B
FB
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D004402:Dysautonomia, Familial / Q000503:physiopathology* / Q000523:psychology* / Q000628:therapy; D005260:Female; D006304:Health Status; D006801:Humans; D008297:Male; D008603:Mental Health; D008875:Middle Aged; D010287:Parent-Child Relations; D010549:Personal Satisfaction; D011788:Quality of Life / Q000523:psychology*; D012649:Self Concept; D012737:Sex Factors