Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Health and Quality of Life Outcomes
Published in: Health and Quality of Life Outcomes 1/2013

Open Access 01-12-2013 | Research

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study

Authors: Alexandre Fabre, Karine Baumstarck, Aline Cano, Anderson Loundou, Julie Berbis, Brigitte Chabrol, Pascal Auquier

Published in: Health and Quality of Life Outcomes | Issue 1/2013

Login to get access

Abstract

Introduction

The development in therapeutic strategies has increased survival of children affected by inborn errors of metabolism with restricted diet (IEMRD). These diseases have mild- and long-term consequences on the health. Little is known about the impact on the quality of life (QoL) of children and their families. The aims of this study were: to compare the QoL of the children and parents affected by IEMRD with the QoL of the general population and one pathology associated with long-term consequences.

Patients and methods

This cross-sectional study was performed at the French Reference Center for inborn metabolic disorders (Marseille, France). Inclusion criteria were: a child with a diagnosis of organic aciduria, urea cycle defect, or maple syrups urine disease (MSUD). Socio-demographics, clinical data, and QoL were recorded.

Results

Twenty-one of 32 eligible families were included during a planned routine visit. Ten (47%, 95% CI 27-69%) children were affected by organic aciduria, six (29%, 95% CI 10-48%) by urea cycle defects, and five (24%, 95% CI 6-42%) by MSUD. Among the younger children, the general well-being was significantly lower in the children with IEMRD than in the leukemia children (58 ± 16 versus 76 ± 15, p = 0.012), and among the older children, the leisure activities were significantly lower in the children with IEMRD than in the leukemia children (29 ± 18 versus 62 ± 22, p < 10-3), while the relationships with teachers were better (76 ± 23 versus 60 ± 23, p = 0.01). The physical QoL score was lower in the parents than in the French norms (66 ± 21 versus 75 ± 1, p = 0.05). Factors modulating QoL were: eating and neurologic disorders, enteral nutrition, and feeding modalities.

Conclusion

The children and the parents of children affected presented altered ‘physical’ and ‘social’ QoL scores compared with the norms and patients with leukemia and their families. Future studies based on larger cohort studies should determine the different weights of potential predictive factors of QoL.
Appendix
Available only for authorised users
Literature
1.
Saudubray JM, Sedel F: Classification et circonstance de découverte des maladies héréditaires du métabolisme. In Progrés en pédiatrie- Maladies métaboliques Héréditaires Edited by: Chabrol B, De Lonlay P. 2011, 1–10.
2.
de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM: Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 2005,28(3):415–423. 10.1007/s10545-005-7056-1PubMedCrossRef
3.
Cederbaum S, Lemons C, Batshaw ML: Alternative pathway or diversion therapy for urea cycle disorders now and in the future. Mol Genet Metab 2010,100(3):219–220. 10.1016/j.ymgme.2010.04.008PubMedCrossRef
4.
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP: Guidelines for management of glycogen storage disease type I - European Study on glycogen storage disease type I (ESGSD I). Eur J Pediatr 2002,161(Suppl 1):S112-S119.PubMedCrossRef
5.
Acosta PB, Yannicelli S, Ryan AS, Arnold G, Marriage BJ, Plewinska M, Bernstein L, Fox J, Lewis V, Miller M, et al.: Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect. Mol Genet Metab 2005,86(4):448–455. 10.1016/j.ymgme.2005.08.012PubMedCrossRef
6.
Horster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kolker S, Baumgartner ER: Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007,62(2):225–230. 10.1203/PDR.0b013e3180a0325fPubMedCrossRef
7.
Waggoner DD, Buist NR, Donnell GN: Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 1990,13(6):802–818. 10.1007/BF01800204PubMedCrossRef
8.
le Roux C, Murphy E, Hallam P, Lilburn M, Orlowska D, Lee P: Neuropsychometric outcome predictors for adults with maple syrup urine disease. J Inherit Metab Dis 2006,29(1):201–202. 10.1007/s10545-006-0223-1PubMedCrossRef
9.
Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G: NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis 2008,31(1):81–87. 10.1007/s10545-008-0793-1PubMedCrossRef
10.
Cosson MA, Benoist JF, Touati G, Dechaux M, Royer N, Grandin L, Jais JP, Boddaert N, Barbier V, Desguerre I, et al.: Long-term outcome in methylmalonic aciduria: a series of 30 French patients. Mol Genet Metab 2009,97(3):172–178. 10.1016/j.ymgme.2009.03.006PubMedCrossRef
11.
Bachmann C: Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur J Pediatr 2003,162(Suppl 1):S29-S33.PubMedCrossRef
12.
Kyllerman M, Skjeldal O, Christensen E, Hagberg G, Holme E, Lonnquist T, Skov L, Rotwelt T, von Dobeln U: Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol 2004,8(3):121–129. 10.1016/j.ejpn.2003.12.007PubMedCrossRef
13.
Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF: Living with classical galactosemia: health-related quality of life consequences. Pediatrics 2004,113(5):e423-e428. 10.1542/peds.113.5.e423PubMedCrossRef
14.
Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA: The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis 2007,30(1):29–34. 10.1007/s10545-006-0433-6PubMedCrossRef
15.
Bosch M, van der Weijden T, Grol R, Schers H, Akkermans R, Niessen L, Wensing M: Structured chronic primary care and health-related quality of life in chronic heart failure. BMC Health Serv Res 2009, 9: 104. 10.1186/1472-6963-9-104PubMedCentralPubMedCrossRef
16.
Cederbaum JA, LeMons C, Rosen M, Ahrens M, Vonachen S, Cederbaum SD: Psychosocial issues and coping strategies in families affected by urea cycle disorders. J Pediatr 2001,138(1 Suppl):S72-S80.PubMedCrossRef
17.
Lambert C, Boneh A: The impact of galactosaemia on quality of life–a pilot study. J Inherit Metab Dis 2004,27(5):601–608.PubMedCrossRef
18.
Packman W, Mehta I, Rafie S, Mehta J, Naldi M, Mooney KH: Young adults with MSUD and their transition to adulthood: psychosocial issues. J Genet Couns 2012,21(5):692–703. 10.1007/s10897-012-9490-1PubMedCrossRef
19.
Gassio R, Campistol J, Vilaseca MA, Lambruschini N, Cambra FJ, Fuste E: Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet? Acta Paediatr 2003,92(12):1474–1478. 10.1111/j.1651-2227.2003.tb00834.xPubMedCrossRef
20.
Hatzmann J, Heymans HS, Ferrer-i-Carbonell A, van Praag BM, Grootenhuis MA: Hidden consequences of success in pediatrics: parental health-related quality of life–results from the care project. Pediatrics 2008,122(5):e1030-e1038. 10.1542/peds.2008-0582PubMedCrossRef
21.
Landolt MA, Nuoffer JM, Steinmann B, Superti-Furga A: Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. J Pediatr 2002,140(5):516–521. 10.1067/mpd.2002.123663PubMedCrossRef
22.
Simon E, Schwarz M, Roos J, Dragano N, Geraedts M, Siegrist J, Kamp G, Wendel U: Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes 2008, 6: 25. 10.1186/1477-7525-6-25PubMedCentralPubMedCrossRef
23.
Ten Hoedt AE, Maurice-Stam H, Boelen CC, Rubio-Gozalbo ME, Van Spronsen FJ, Wijburg FA, Bosch AM, Grootenhuis MA: Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J Inherit Metab Dis 2011,34(2):391–398. 10.1007/s10545-010-9267-3PubMedCentralPubMedCrossRef
24.
Simeoni MC, Auquier P, Antoniotti S, Sapin C, San Marco JL: Validation of a French health-related quality of life instrument for adolescents: the VSP-A. Qual Life Res 2000,9(4):393–403. 10.1023/A:1008957104322PubMedCrossRef
25.
Auquier P, Clément A, Sapin C, El Khammar M, San Marco JL, Siméoni MC: Development, validation of HRQL measurement in children: VSP-Ae. Qual Life Res 2001, 10: 268.
26.
Simeoni MC, Sapin C, Antoniotti S, Auquier P: Health-related quality of life reported by French adolescents: a predictive approach of health status? J Adolesc Health 2001,28(4):288–294. 10.1016/S1054-139X(00)00198-1PubMedCrossRef
27.
Sapin C, Simeoni MC, El Khammar M, Antoniotti S, Auquier P: Reliability and validity of the VSP-A, a health-related quality of life instrument for ill and healthy adolescents. J Adolesc Health 2005,36(4):327–336. 10.1016/j.jadohealth.2004.01.016PubMedCrossRef
28.
Ravens-Sieberer U, Auquier P, Erhart M, Gosch A, Rajmil L, Bruil J, Power M, Duer W, Cloetta B, Czemy L, et al.: The KIDSCREEN-27 quality of life measure for children and adolescents: psychometric results from a cross-cultural survey in 13 European countries. Qual Life Res 2007,16(8):1347–1356. 10.1007/s11136-007-9240-2PubMedCrossRef
29.
Michel G, Bordigoni P, Simeoni MC, Curtillet C, Hoxha S, Robitail S, Thuret I, Pall-Kondolff S, Chambost H, Orbicini D, et al.: Health status and quality of life in long-term survivors of childhood leukaemia: the impact of haematopoietic stem cell transplantation. Bone Marrow Transplant 2007,40(9):897–904. 10.1038/sj.bmt.1705821PubMedCrossRef
30.
Power M, Harper A, Bullinger M: The world health organization WHOQOL-100: tests of the universality of quality of life in 15 different cultural groups worldwide. Health Psychol 1999,18(5):495–505.PubMedCrossRef
31.
WHOQOL: Group: Development of the world health organization WHOQOL-BREF quality of life assessment. The WHOQOL group. Psychol Med 1998,28(3):551–558.CrossRef
32.
Baumann C, Erpelding ML, Regat S, Collin JF, Briancon S: The WHOQOL-BREF questionnaire: French adult population norms for the physical health, psychological health and social relationship dimensions. Rev Epidemiol Sante Publique 2010,58(1):33–39. 10.1016/j.respe.2009.10.009PubMedCrossRef
33.
Packman W, Henderson SL, Mehta I, Ronen R, Danner D, Chesterman B, Packman S: Psychosocial issues in families affected by maple syrup urine disease. J Genet Couns 2007,16(6):799–809. 10.1007/s10897-007-9114-3PubMedCrossRef
34.
Hatzmann J, Valstar MJ, Bosch AM, Wijburg FA, Heymans HS, Grootenhuis MA: Predicting health-related quality of life of parents of children with inherited metabolic diseases. Acta Paediatr 2009,98(7):1205–1210. 10.1111/j.1651-2227.2009.01269.xPubMedCrossRef
35.
Rapkin BD, Schwartz CE: Toward a theoretical model of quality-of-life appraisal: Implications of findings from studies of response shift. Health Qual Life Outcomes 2004,15(1):12.
36.
Avitsland TL, Kristensen C, Emblem R, Veenstra M, Mala T, Bjornland K: Percutaneous endoscopic gastrostomy in children: a safe technique with major symptom relief and high parental satisfaction. J Pediatr Gastroenterol Nutr 2006,43(5):624–628. 10.1097/01.mpg.0000229550.54455.63PubMedCrossRef
37.
Sullivan PB, Juszczak E, Bachlet AM, Thomas AG, Lambert B, Vernon-Roberts A, Grant HW, Eltumi M, Alder N, Jenkinson C: Impact of gastrostomy tube feeding on the quality of life of carers of children with cerebral palsy. Dev Med Child Neurol 2004,46(12):796–800.PubMedCrossRef
38.
Smith SW, Camfield C, Camfield P: Living with cerebral palsy and tube feeding: a population-based follow-up study. J Pediatr Gastroenterol Nutr 1999, 135: 307–310.
39.
Avitsland TL, Faugli A, Pripp AH, Malt UF, Bjornland K, Emblem R: Maternal psychological distress and parenting stress after gastrostomy placement in children. J Pediatr Gastroenterol Nutr 2012,55(5):562–566. 10.1097/MPG.0b013e31826078bdPubMedCrossRef
40.
Mahant S, Friedman JN, Connolly B, Goia C, Macarthur C: Tube feeding and quality of life in children with severe neurological impairment. Arch Dis Child 2009,94(9):668–673. 10.1136/adc.2008.149542PubMedCrossRef
Metadata
Title
Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study
Authors
Alexandre Fabre
Karine Baumstarck
Aline Cano
Anderson Loundou
Julie Berbis
Brigitte Chabrol
Pascal Auquier
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Health and Quality of Life Outcomes / Issue 1/2013
Electronic ISSN: 1477-7525
DOI
https://doi.org/10.1186/1477-7525-11-158

Other articles of this Issue 1/2013

Health and Quality of Life Outcomes 1/2013 Go to the issue

Research

Health related quality of life of children with rheumatic heart diseases: reliability of the Brazilian version of the pediatric quality of life inventory™ cardiac module scale

Study protocol

Study protocol for valuing EQ-5D-3L and EORTC-8D health states in a representative population sample in Sri Lanka

Research

‘It is not going to change his life but it has picked him up’: a qualitative study of perspectives on long term oxygen therapy for people with chronic obstructive pulmonary disease

Review

Patient Reported Outcome (PRO) assessment in epilepsy: a review of epilepsy-specific PROs according to the Food and Drug Administration (FDA) regulatory requirements

Research

Health literacy and ethnic disparities in health-related quality of life among rural women: results from a Chinese poor minority area

Research

Temperament and character properties of primary focal hyperhidrosis patients