Abstract
Aim of the study was the evaluation of health-related quality of life (HRQoL) and the detection of deviant behavior in early-treated children and adolescents with PKU in comparison with healthy peers. Special focus was laid on the impact of compliance with treatment as defined by the national recommendations on HRQoL. Our investigation in 50 children and adolescents and their parents for the first time demonstrates that despite an overall normal HRQoL in our PKU patient collective, parents are concerned about performance in school especially when phenylalanine concentrations in their children are mainly above the therapeutic range. Adherence to target phenylalanine concentrations ameliorated markedly in patients above 10 years in comparison to younger patients due to relaxed treatment recommendations. Interestingly, this alleged improvement in metabolic control has an impact on the parent assessed but not on the patient assessed appraisal of HRQoL. However, a positive correlation between poor metabolic control and conduct problems was identified by patients’ self-assessment. In conclusion, lacking adherence to the strict treatment recommendations in infancy results in significant concern about school success and success in life in parents of PKU patients. With relaxation of dietary phenylalanine restriction at 10 years of age, these concerns diminish.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Anjema K, van Rijn M, Verkerk PH, Burgerhof JG, Heiner-Fokkema MR, van Spronsen FJ (2011) PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings. Mol Genet Metab 104:231–234
Bik-Multanowaki M, Didycz B, Mozrzymas R et al (2008) Quality of life in noncompliant adults with phenylketonuria after resumption of the diet. J Inherit Metab Dis Short Report # 133
Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA (2007) The course of life and quality of life in early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis 30:29–34
Bremer HJ et al (2008) Therapie von Patienten mit Phenylketonurie. Empfehlungen zu Diagnostik und Therapie. APS Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen
Brumm VL, Bilder D, Waisbren SE (2010) Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab 9:S59–S63
Bullinger M (1997) Entwicklung und anwendung von instrumenten zur erfassung der lebensqualität. In: Bullinger M (ed) Lebensqualitätsforschung: Bedeutung—anforderung—akzeptanz. Schattauer, Stuttgart, pp 1–6
Bullinger M (2000) Lebensqualität—aktueller stand und neuere entwicklungen der internationalen lebensqualitätsforschung. In: Ravens-Sieberer U, Cieza A (eds) Lebensqualität und gesundheitsökonomie in der medizin: Konzepte—methoden—anwendungen. Landsberg, Ecomed, pp 13–24
Bullinger M, von Mackensen S, Kirchberger I (1994) KINDL—ein fragebogen zur erfassung der gesundheitsbezogenen lebensqualität von kindern. Z Gesundheitspsychologie 1:64–77
Burgard P (2000) Development of intelligence in early treated phenylketonuria. Eur J Pediatr 159:74–79
Cotugno G, Nicolo R, Cappelletti S et al (2011) Adherence to diet and quality of life in patients with phenylketonuria. Acta Paediatr 100:1144–1149
Enns GM, Koch R, Brumm V (2010) Suboptimal outcome in patients with PKU treated with early diet alone: revisiting the evidence. Mol Genet Metab 101:99–109
Gassio R, Campistol J, Vilaseca MA et al (2003) Do adult patients with phenylketonuria improve their quality of life after introduction of a phenylalanine-restricted diet? Acta Paediatr 92:1474–1478
Gassio R, Fuste E, Lopez-Sala A et al (2005) School performance in early and continuously treated phenylketonuria. Pediatr Neurol 33:267–271
Goodman R (1997) The Strengths and Difficulties Questionnaire: a research note. J Child Psych Psychiatry Allied Discip 38:581–586
Griffiths P (2000) Neuropsychological approaches to treatment policy in phenylketonuria. Eur J Pediatr 159:82–86
Huijbregts SCJ, de Sonneville LMJ, van Spronsen FJ, Licht R, Sergenat JA (2002) The neuropsychological profile of early and continuously treated phenylketonuria: orienting, vigilance and maintainance versus manipulation-functions of working memory. Neurosci Biobehav Rev 26:697–712
Lambert C, Bonneh A (2004) The impact of galactosemia on quality of life—a pilot study. J Inherit Metab Dis 27:601–608
Landolt M, Nuoffer J, Steinmann B, Superti-Fuga A (2002) Quality of life and psychosocial adjustment in children and adolescents with early treated phenylketonuria can be normal. J Pediatr 40:516–521
Mütze U, Roth A, Weigel JF, Beblo S, Baerwald CG, Bührdel P, Kiess W (2011) Transition of young adults with phenylketonuria from pediatric to adult care. J Inherit Metab Dis 34:701–709
Radoschewski M (2000) Gesundheitsbezogene lebensqualität—konzepte und Maße. Entwicklungen und Stand im überblick. Bundesgesundheitsbl—Gesundheitsforsch—Gesundheitsschutz 43:165–189
Ravens Sieberer U, Gosch A, Abel T et al (2001) Quality of life in children and adolescents—a European public health perspective. Soz Praventivmed 46:294–302
Ravens-Sieberer U (2003) Der KINDL-R Fragebogen zur Erfassung der gesundheitsbezogenen Lebensqualität bei Kindern und Jugendlichen- revidierte Form. Göttingen
Ravens-Sieberer U, Bullinger M (1998) Assessing health related quality of life in chronically ill children with the German KINDL: first psychometric and content analytical results. Qual Life Res 7:399–407
Ravens-Sieberer U, Ellert U, Erhart M (2007) Health-related quality of life of children and adolescents in Germany. Norm data from the German health interview and examination survey (KiGGS). Bundesgesundheitsbl Gesundheitsforsch Gesundheitsschutz 50:810–818
Ravens-Sieberer U et al (2008) Health-related quality of life in children and adolescents in Germany: results of the BELLA study. Eur Child Adolesc Psychiatry 17(Suppl 1):148–156
Simon E, Schwarz M, Roos J et al (2008) Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcome 6:25
Stemerdink BA, Kalverboer AF, van der Meere JJ (2000) Behaviour and school achievement in patients with early and continuously treated phenylketonuria. J Inherit Metab Dis 23:548–562
Ten Hoedt AE, de Sonneville LMJ, Francois B et al (2011) High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled crossover trial. J Inherit Metab Dis 34:165–171
Van Zutphen KH, Packman W, Sporri L et al (2007) Executive functioning in children and adolescents with phenylketonuria. Clin Genet 72:13–18
Walter JH, White FJ, Hall SK et al (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360:55–57
Weglage J, Fünders B, Wilken B, Schubert S, Schmidt E, Burgard P, Ullrich K (1992) Psychosocial and social findings in adolescents with phenylketonuria. Eur J Pediatr 151:522–525
Weglage J, Fünders B, Wilken B, Schubert D, Ullrich K (1993) School performance and intellectual outcome in adolescents with phenylketonuria. Acta Paediatr 82:582–586
Conflict of interest
None.
Author information
Authors and Affiliations
Corresponding author
Additional information
Communicated by: Gregory Enns
Rights and permissions
About this article
Cite this article
Thimm, E., Schmidt, L.E., Heldt, K. et al. Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents. J Inherit Metab Dis 36, 767–772 (2013). https://doi.org/10.1007/s10545-012-9566-y
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10545-012-9566-y