Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population

International Journal of Pediatric Endocrinology

Hedi L Claahsen-van der Grinten¹  Barto J Otten¹  Therese A Wiegers²  Sarita A Sanches³ 

[1] Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands;Netherlands institute for health services research (NIVEL), P.O. Box 1568, 3500 BN Utrecht, The Netherlands;VU Medical Centre, department of Rehabilitation Medicine, room PK -1 Y 158, De Boelelaan 1118, 1081 HZ, The Netherlands

关键词: preventive measures;    comorbidity;    parents;    Netherlands;    participation;    self-management;    burden of disease;    social functioning;    quality of life;    children;    CAH;   

Others  :  813589
DOI  :  10.1186/1687-9856-2012-2

 received in 2011-07-21, accepted in 2012-02-02,  发布年份 2012

【 摘 要 】

Background

Most research concerning congenital adrenal hyperplasia (CAH) and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to investigate the physical, social and societal functioning of children with CAH and their parents in a Dutch population.

Methods

The study is descriptive and cross-sectional. Self-designed questionnaires, based on questionnaires developed in the Netherlands for different patient groups, were sent to parents of children with CAH between 0 and 18 years old. Participants were recruited through the Dutch patient group for Adrenal Disease (NVACP) and six hospitals in the Netherlands. Three different questionnaires were designed for parents: for children aged 0 - 4, aged 4 - 12 and aged 12 - 18. Additionally, a fourth questionnaire was sent to adolescents with CAH aged 12 - 18. Main outcome measures were experienced burden of the condition, self-management and participation in several areas, such as school and leisure time.

Results

A total of 106 parents returned the questionnaire, 12 regarding pre-school children (0-4 years), 63 regarding primary school children (4-12 years), and 32 regarding secondary school children (12-18 years), combined response rate 69.7%. Also, 24 adolescents returned the questionnaire. Children and adolescents with CAH appear to be capable of self-management at a young age. Experienced burden of the condition is low, although children experience several health related problems on a daily basis. Children participate well in school and leisure time. Few children carry a crisis card or emergency injection with them.

Conclusions

Overall, our research shows that, according to their parents, children with CAH experience few negative effects of the condition and that they participate well in several areas such as school and leisure time. However, improvements can be made concerning the measures parents and children must take to prevent an adrenal crisis.

【 授权许可】

   
2012 Sanches et al; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Trakakis E, Loghis C, Kassanos D: Congenital Adrenal Hyperplasia Because of 21-Hydroxylase Deficiency. A Genetic Disorder of interest to Obstetrics and Gynecologists. Obstet Gynecol Surv 2009, 64:177-187.
• [2]Claahsen- van der Grinten HL: Van gen naar ziekte; het adrenogenitaal syndroom en het CYP21A2-gen (From gene to disease: adrenogenital syndrome and the CYP21A2 gene). Nederlands tijdschrift voor geneeskunde 2007, 151(Suppl 21):1174-1177.
• [3]Grosse SD, Van Vliet G: How many deaths can be prevented by newborn screening for Congenital Adrenal Hyperplasia? Horm Res 2007, 67:284-291.
• [4]Bachelot A, Chakthoura Z, Rouxel A, Dulon J, Touraine P: Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults. Horm Res 2008, 69:203-211.
• [5]Malouf MA, Inman AG, Carr AG, Franco J, Brooks LM: Health-related quality of life, mental health and psychotherapeutic considerations for women diagnosed with a disorder of sexual development: Congenital Adrenal Hyperplasia. Int J Ped Endcorinol 2010, 2010:253465. BioMed Central Full Text
• [6]Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HFL, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2010, 95(Suppl 9):4133-4160.
• [7]RIVM: Informatieblad in het kader van het landelijke neonatale screeningsprogramma (Information leaflet of the national neonatal screening program). Bilthoven; 2006.
• [8]Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JMC, Ross RJ, the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE): Health status of adults with congenital adrenal hyperplasia: A cohort study of 203 patients. J Clin Endocrinol Metab 2010, 95(Suppl 11):5110-5121.
• [9]Westert GP, Schellevis FG, de Bakker DH, Groenewegen PP, Bensing JM, van der Zee J: Monitoring health inequalities through general practice: the Second Dutch National Survey of General Practice. Eur J Public Health 2005, 15(Suppl 1):59-65.
• [10]Heijmans MJWM, Rijken M: De impact van de ziekte van Addison, AGS of het syndroom van Cushing op het dagelijks leven en de zorg: een onderzoek vanuit patiëntenperspectief (The impact of Addison's disease, CAH and Cushing's syndrome on daily life and healthcare: a study from the patient's perspective.). Utrecht: NIVEL; 2006.
• [11]Calsbeek H: The social position of adolescents and young adults with chronic digestive disorders. Utrecht: NIVEL; 2003.
• [12]Sanches S, Wiegers T: Het fysiek, sociaal en maatschappelijk functioneren van kinderen met AGS (en hun ouders) (The physical, social and societal functioning of children with CAH (and their parents). Utrecht: NIVEL; 2010.
• [13]Erichsen MM, Løvås K, Skinningsrud B, Wolff AB, Undlien DE, Svartberg J, Fougner KJ, Berg TJ, Bollerslev J, Mella B, Carlson JA, Erlich H, Husebye ES: Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: Observations from a Norwegian registry. J Clin Endocrinol Metab 2009, 94:4882-4890.
• [14]Løvås K, Loge JH, Husebye ES: Subjective health status in Norwegian Patients with Addison's disease. Clin Endocrinol (Oxf) 2002, 56:581-588.
• [15]Bleicken B, Hahner S, Loeffler M, Ventz M, Allolio B, Quinkler M: Impaired subjective health status in chronic adrenal insufficiency: impact of different glucocorticoid replacement regimens. Eur J Endocrinol 2008, 159:811-817.
• [16]Hahner S, Loeffler M, Fassnacht M, Weisman D, Koschker AC, Quinkler M, Decker O, Arlt W, Allolio B: Impaired subjective health status in 256 patients with adrenal insufficiency based on cross sectional analysis. J Clin Endocrinol Metab 2007, 92:3912-3922.
• [17]Gurnell EM, Hunt PJ, Curran SE, Conway CL, Pullenayegum EM, Huppert FA, Compston JE, Herbert J, Chatterjee VK: Longterm DHEA replacement in primary adrenal insufficiency: a randomized, controlled trial. J Clin Endocrinol Metab 2008, 93:400-409.
• [18]Witchel SF: The medical home concept and Congenital Adrenal Hyperplasia: a comfortable habitat! Int J Ped Endcorinol 2010, 2010:561526. BioMed Central Full Text