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

Stephen A Sands, Philip Giarraffa, Colleen M Jacobson, Felicia B Axelrod
Acta Paediatrica 2006, 95 (4): 457-62

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.

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