Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-06-30

AUTHORS

Emilienne Verkaeren, Agnès Brion, Amélie Hurbault, Cécile Chenivesse, Capucine Morelot-Panzini, Jésus Gonzalez-Bermejo, Valérie Attali, Thomas Similowski, Christian Straus

ABSTRACT

BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during sleep, involving a high burden of care. Whether or not this impairs the quality of life of these patients during adulthood remains unknown.MethodsWe applied the medical outcome study short form-36 (SF-36) to 12 CCHS patients aged 15–33 (9 women) 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 mental component summary score (MCS) were compared to American reference values.ResultsMedian 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 (RP, role limitation due to physical function; BP, bodily pain) and the mental dimensions (VT, vitality; SF, social functioning; RE, role limitation due to emotional function; MH, mental health) and MCS were not altered.ConclusionsWe conclude that, despite the physical constraints imposed by CCHS 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 child diagnosed with CCHS and for patients themselves. More... »

PAGES

80

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12931-015-0241-3

DOI

http://dx.doi.org/10.1186/s12931-015-0241-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1033555414

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26122307


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24 schema:description BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support during sleep, involving a high burden of care. Whether or not this impairs the quality of life of these patients during adulthood remains unknown.MethodsWe applied the medical outcome study short form-36 (SF-36) to 12 CCHS patients aged 15–33 (9 women) 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 mental component summary score (MCS) were compared to American reference values.ResultsMedian 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 (RP, role limitation due to physical function; BP, bodily pain) and the mental dimensions (VT, vitality; SF, social functioning; RE, role limitation due to emotional function; MH, mental health) and MCS were not altered.ConclusionsWe conclude that, despite the physical constraints imposed by CCHS 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 child diagnosed with CCHS and for patients themselves.
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31 CCHS
32 CCHS patients
33 ConclusionsWe
34 Form-36
35 French reference population
36 GH
37 MethodsWe
38 PF
39 PHOX2B mutations
40 SF-36 dimensions
41 SF-36 physical component summary score
42 Short Form-36
43 adult care
44 adulthood
45 adults
46 age
47 anxiogenic nature
48 automatisms
49 autonomic disorders
50 birth
51 burden
52 care
53 central hypoventilation syndrome
54 children
55 component summary scores
56 congenital central hypoventilation syndrome
57 constraints
58 cross-sectional study
59 dimensions
60 disease
61 disorders
62 explanation
63 genetic diseases
64 health-related quality
65 high burden
66 hope
67 hypoventilation syndrome
68 impairment
69 life
70 medical outcomes
71 mental component summary scores
72 mental dimensions
73 mutations
74 nature
75 outcomes
76 parents
77 passage
78 patients
79 physical component summary score
80 physical constraints
81 physical dimensions
82 population
83 quality
84 quality of life
85 rare genetic disease
86 reference population
87 reference values
88 results
89 scores
90 sleep
91 standardized z-scores
92 study
93 summary scores
94 support
95 syndrome
96 time
97 transformation
98 values
99 ventilatory support
100 young adults
101 z-score
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