期刊论文详细信息
Respiratory Research
Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study
Christian Straus4  Thomas Similowski2  Valérie Attali2  Jésus Gonzalez-Bermejo2  Capucine Morelot-Panzini2  Cécile Chenivesse2  Amélie Hurbault2  Agnès Brion1  Emilienne Verkaeren3 
[1] AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Branche “Adultes” du Centre de Référence du Syndrome d’Ondine, Paris, F-75013, France;Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMRS1158 Neurophysiologie respiratoire expérimentale et clinique, Paris, France;AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département “R3S”, Service de Pneumologie et Réanimation Médicale, Paris, F-75013, France;AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département “R3S”, Service d’Explorations Fonctionnelles de la Respiration, de l’Exercice et de la Dyspnée, Paris, F-75013, France
关键词: Mechanical ventilation;    Chronic respiratory insufficiency;    SF-36;    Health-related quality of life;    Congenital central hypoventilation syndrome;   
Others  :  1233537
DOI  :  10.1186/s12931-015-0241-3
 received in 2015-05-08, accepted in 2015-06-21,  发布年份 2015
【 摘 要 】

Background

Congenital 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.

Methods

We 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.

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 (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.

Conclusions

We 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.

【 授权许可】

   
2015 Verkaeren et al.

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【 参考文献 】
  • [1]Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest. 2005; 127:72-9.
  • [2]Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B et al.. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003; 33:459-61.
  • [3]Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME et al.. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet Part A. 2003; 123A:267-78.
  • [4]Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H et al.. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003; 114:22-6.
  • [5]Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM et al.. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet. 2004; 41:373-80.
  • [6]Idiopathic congenital central hypoventilation syndrome: diagnosis and management. Am J Respir Crit Care Med. 1999; 160:368-73.
  • [7]Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010; 181:626-44.
  • [8]Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004; 37:217-29.
  • [9]Silvestri JM, Hanna BD, Volgman AS, Jones PJ, Barnes SD, Weese-Mayer DE. Cardiac rhythm disturbances among children with idiopathic congenital central hypoventilation syndrome. Pediatr Pulmonol. 2000; 29:351-8.
  • [10]Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008; 43:77-86.
  • [11]Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. 24-hour BP in children with congenital central hypoventilation syndrome. Chest. 2003; 124:1393-9.
  • [12]Boulanger-Scemama E, Fardeau C, Straus C, Simon C, Touitou V, Touhami S et al.. Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients. Ophthalmic Genet. 2014; 35:229-34.
  • [13]International Classification of Functioning, Disability and Health. World Organization of Health, Geneva; 2001.
  • [14]Leplège A, Ecosse E, Coste J, Pouchot J, Perneger TV. Le questionnaire MOS SF-36. Manuel de l’utilisateur et guide d’interprétation des scores. ESTEM, Paris; 2001.
  • [15]Ware JE. User’s Manual for the SF-36v2 Health Survey. 2nd ed. QualityMetric Incorporated, Lincoln, RI, USA; 2007.
  • [16]Freeston MH, Ladouceur R, Thibodeau N, Gagnon F, Rheaume J. The Beck Anxiety Inventory. Psychometric properties of a French translation. Encéphale. 1994; 20:47-55.
  • [17]Spielberger CD, Gorsuch RL, Lushene R, Vagg PR, Jacobs GA. Manual for the State-Trait Anxiety Inventory. Consulting Psychologists Press, Palo Alto, CA; 1983.
  • [18]Chenivesse C, Similowski T, Bautin N, Fournier C, Robin S, Wallaert B et al.. Severely impaired health-related quality of life in chronic hyperventilation patients: exploratory data. Respir Med. 2014; 108:517-23.
  • [19]Cronbach alpha (v1.0.3), in Free Statistics Software (v1.1.23-r7), Office for Research Development and Education [http://www.wessa.net/rwasp_cronbach.wasp/]. Accessed 30 June 2015.
  • [20]Sheng Y, Sheng Z. Is coefficient alpha robust to non-normal data? Front Psychol. 2012; 3:34.
  • [21]Moret L, Mesbah M, Chwalow J, Lellouch J. [Internal validation of a measurement scale: relation between principal component analysis, Cronbach’s alpha coefficient and intra-class correlation coefficient]. Rev Epidemiol Sante Publique. 1993; 41:179-86.
  • [22]Bruchon-Schweitzer M, Paulhan I. Manuel du STAI-Y de Spielberger, adaptation française. ECPA, Paris; 1993.
  • [23]Ansseau M. Inventaire d’anxiété Trait-Etat de Spielberger - STAI. In: L’évaluation clinique standardisée en psychiatrie. Guelfi JD, editor. Editions Médicales Pierre Fabre, Castres, France; 1997: p.349-54.
  • [24]Meecham Jones DJ, Paul EA, Jones PW, Wedzicha JA. Nasal pressure support ventilation plus oxygen compared with oxygen therapy alone in hypercapnic COPD. Am J Respir Crit Care Med. 1995; 152:538-44.
  • [25]Perrin C, El Far Y, Vandenbos F, Tamisier R, Dumon MC, Lemoigne F et al.. Domiciliary nasal intermittent positive pressure ventilation in severe COPD: effects on lung function and quality of life. Eur Respir J. 1997; 10:2835-9.
  • [26]Sivasothy P, Smith IE, Shneerson JM. Mask intermittent positive pressure ventilation in chronic hypercapnic respiratory failure due to chronic obstructive pulmonary disease. Eur Respir J. 1998; 11:34-40.
  • [27]Nauffal D, Domenech R, Martinez Garcia MA, Compte L, Macian V, Perpina M. Noninvasive positive pressure home ventilation in restrictive disorders: outcome and impact on health-related quality of life. Respir Med. 2002; 96:777-83.
  • [28]Domenech-Clar R, Nauffal-Manzur D, Perpina-Tordera M, Compte-Torrero L, Macian-Gisbert V. Home mechanical ventilation for restrictive thoracic diseases: effects on patient quality-of-life and hospitalizations. Respir Med. 2003; 97:1320-7.
  • [29]Dellborg C, Olofson J, Midgren B, Caro O, Bergman B, Skoogh BE et al.. Impact of home mechanical ventilation on health-related quality of life in patients with chronic alveolar hypoventilation: a prospective study. Clin Respir J. 2008; 2:26-35.
  • [30]Simonds AK, Elliott MW. Outcome of domiciliary nasal intermittent positive pressure ventilation in restrictive and obstructive disorders. Thorax. 1995; 50:604-9.
  • [31]Janssens JP, Cicotti E, Fitting JW, Rochat T. Non-invasive home ventilation in patients over 75 years of age: tolerance, compliance, and impact on quality of life. Respir Med. 1998; 92:1311-20.
  • [32]Windisch W, Freidel K, Schucher B, Baumann H, Wiebel M, Matthys H et al.. Evaluation of health-related quality of life using the MOS 36-Item Short-Form Health Status Survey in patients receiving noninvasive positive pressure ventilation. Intensive Care Med. 2003; 29:615-21.
  • [33]Gee L, Abbott J, Conway SP, Etherington C, Webb AK. Validation of the SF-36 for the assessment of quality of life in adolescents and adults with cystic fibrosis. J Cyst Fibros. 2002; 1:137-45.
  • [34]Raphael JC, Dazord A, Jaillard P, Andronikof-Sanglade A, Benony H, Kovess V et al.. Auriant I. Assessment of quality of life for home ventilated patients with Duchenne muscular dystrophy. Rev Neurol. 2002; 158:453-60.
  • [35]Faulkner MS. Quality of life for adolescents with type 1 diabetes: parental and youth perspectives. Pediatr Nurs. 2003; 29:362-8.
  • [36]McClish DK, Penberthy LT, Bovbjerg VE, Roberts JD, Aisiku IP, Levenson JL et al.. Health related quality of life in sickle cell patients: the PiSCES project. Health Qual Life Outcomes. 2005; 3:50. BioMed Central Full Text
  • [37]Ozaki A, Inoue Y, Nakajima T, Hayashida K, Honda M, Komada Y et al.. Health-related quality of life among drug-naive patients with narcolepsy with cataplexy, narcolepsy without cataplexy, and idiopathic hypersomnia without long sleep time. J Clin Sleep Med. 2008; 4:572-8.
  • [38]Preau M, Marcellin F, Carrieri MP, Lert F, Obadia Y, Spire B et al.. Health-related quality of life in French people living with HIV in 2003: results from the national ANRS-EN12-VESPA Study. AIDS. 2007; 21 Suppl 1:S19-27.
  • [39]Pucheu S, Consoli SM, D’Auzac C, Francais P, Issad B. Do health causal attributions and coping strategies act as moderators of quality of life in peritoneal dialysis patients? J Psychosom Res. 2004; 56:317-22.
  • [40]Horner-Johnson W, Krahn GL, Suzuki R, Peterson JJ, Roid G, Hall T. Differential performance of SF-36 items in healthy adults with and without functional limitations. Arch Phys Med Rehab. 2010; 91:570-5.
  • [41]Saliba Z, Butera G, Bonnet D, Bonhoeffer P, Villain E, Kachaner J et al.. Quality of life and perceived health status in surviving adults with univentricular heart. Heart. 2001; 86:69-73.
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