Health-related quality of life in young adults with XXXX due to @entity15601 mutations: a cross-sectional study.

@entity1 @entity1032 @entity11627 @entity6391 @entity4148 @entity74 @entity158 @entity8176 @entity15601
BACKGROUND: @entity11627 ( @entity11627 ) is a rare @entity74 due to @entity15601 mutations. @entity11627 @entity1 suffer from many @entity4148 , dominated clinically by defective ventilatory automatisms. From birth, the life of @entity11627 @entity1 depends on ventilatory support during sleep, involving a high burden of care. Whether or not this impairs the quality of life of these @entity1 during adulthood remains unknown. METHODS: We applied the medical outcome study short form-36 (SF-36) to 12 @entity11627 @entity1 aged 15-33 (9 @entity1 ) at the time of their passage from pediatric to adult care. Scores for the SF-36 dimensions were compared to the age- and gender-matched French reference population after transformation into standardized Z-scores. The SF-36 physical component summary score (PCS) and @entity1032 ( @entity1032 ) were compared to American reference values. RESULTS: Median Z-scores were significantly different from zero for PF (physical functioning, p   =   0.020) and GH (general health perception, p   =   0.0342) and for PCS (p   =   0.020). The other physical dimensions ( @entity6391 , role limitation due to physical function; BP, @entity158 ) and the mental dimensions (VT, vitality; SF, social functioning; RE, role limitation due to emotional function; @entity8176 , mental health) and @entity1032 were not altered. CONCLUSIONS: We conclude that, despite the physical constraints imposed by @entity11627 and its anxiogenic nature, this disease is associated with an impairment of health-related quality of life in young adults that remains moderate. Whatever the underlying explanations, these results convey hope to parents with a @entity1 diagnosed with @entity11627 and for @entity1 themselves.
