Abstract
Background
Newborn screening for inborn errors of metabolism is regarded as highly successful by health professionals. Little is known about parents’ perspectives on child development and social impact on families.
Methods
Parents of 187 patients with metabolic disorders detected by newborn screening rated child development, perceived burdens on child and family, and future expectations on a questionnaire with standardized answers. Parental ratings were compared with standardized psychometric test results. Regression analysis was performed to identify factors associated with extent of perceived burden.
Results
In 26.2 % of patients, parents perceived delays in global development and/or specific developmental domains (physical, social, intellectual, language). Parents expected normal future development in 95.7 %, and an independent adult life for their child in 94.6 %. Comparison with psychometric test results showed that parents of children with cognitive impairments tended to overrate their child’s abilities. Mild/medium burden posed on the family (child) by the metabolic disorder was stated by 56.1 % (48.9 %) of parents, severe/very severe burden by 19.3 % (8.6 %). One third of families reported financial burden due to the metabolic disorder. Dietary treatment and diagnoses with risk for metabolic decompensation despite treatment were associated with higher perceived burden for the family. Disorders rated as potentially very burdensome by experts were not rated accordingly by parents, demonstrating different perspectives of professionals and parents.
Conclusion
Although newborn screening leads to favourable physical and cognitive outcome, living with a metabolic disorder may cause considerable stress on patients and families, emphasizing the need for comprehensive multidisciplinary care including psychological and social support.
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References
Arbeitsgemeinschaft für Pädiatrische Diätetik (2007) Finanzielle Belastung durch diätetische Behandlung der Phenylketonurie Stand Juni 2007. Retrieved 23 January 2013, from http://www.netzwerk-apd.de/vortraege/mehrkosten_pku_diaet_2008.pdf
Biesecker BB, Erby L (2008) Adaptation to living with a genetic condition or risk: a mini-review. Clin Genet 74:401–407
Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF (2004) Living with classical galactosemia: health-related quality of life consequences. Pediatrics 113:e423–e428
Buch SR, Sparfeldt JR, Rost DH (2006) Eltern beurteilen die Entwicklung ihrer hochbegabten Kinder. Z Entwicklungspsychol Pädagog Psychol 38:53–61
Dale PS, Price TS, Bishop DV, Plomin R (2003) Outcomes of early language delay: I. Predicting persistent and transient language difficulties at 3 and 4 years. J Speech Lang Hear Res 46:544–560
Deimann P, Kastner-Koller U, Benka M, Kainz S, Schmidt H (2005) Mütter als Entwicklungsdiagnostikerinnen. Der Entwicklungsstand von Kindergartenkindern im Urteil ihrer Mütter. Z Entwicklungspsychol Pädagog Psychol 37:122–134
Dellve L, Samuelsson L, Tallborn A, Fasth A, Hallberg LR (2006) Stress and well-being among parents of children with rare diseases: a prospective intervention study. J Adv Nurs 53:392–402
Glascoe FP, Dworkin PH (1995) The role of parents in the detection of developmental and behavioral problems. Pediatrics 95:829–836
Glascoe FP, Sandler H (1995) Value of parents’ estimates of children’s developmental ages. J Pediatr 127:831–835
Gottschling A, Franze M, Hoffmann W (2012) Entwicklungsverzögerungen bei Kindern: Screening als Grundlage für eine gezielte Förderung. Dtsch Arztebl 3:123–125
Hatzmann J, Valstar MJ, Bosch AM, Wijburg FA, Heymans HS, Grootenhuis MA (2009) Predicting health-related quality of life of parents of children with inherited metabolic diseases. Acta Paediatr 98:1205–1210
Ireton H, Glascoe FP (1995) Assessing children’s development using parents’ reports. The child development inventory. Clin Pediatr (Phila) 34:248–255
Johnson S, Wolke D, Marlow N (2008) Developmental assessment of preterm infants at 2 years: validity of parent reports. Dev Med Child Neurol 50:58–62
Kazak AE, Reber M, Snitzer L (1988) Childhood chronic disease and family functioning: a study of phenylketonuria. Pediatrics 81:224–230
Kölker S, Garbade SF, Boy N et al (2007) Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 62:357–363
Lindner M, Gramer G, Haege G et al (2011) Efficacy and outcome of expanded newborn screening for metabolic diseases-report of 10 years from South-West Germany. Orphanet J Rare Dis 6:44
Loonen HJ, Derkx BH, Griffiths AM (2002) Pediatricians overestimate importance of physical symptoms upon children’s health concerns. Med Care 40:996–1001
National Newborn Screening & Genetics Resource Center Austin Texas. National Newborn Screening & Genetics Resource Center, Austin, Texas. from http://genes-r-us.uthscsa.edu/
Nennstiel-Ratzel U, Arenz S, Maier EM et al (2005) Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A > G identified by neonatal screening. Mol Genet Metab 85:157–159
Rennen-Allhoff B (1991) How reliable is parental disclosure? Prax Kinderpsychol Kinderpsychiatr 40:333–338
Sarafoglou K, Hoffmann GF, Roth KS (eds) (2009) Pediatric endocrinology and inborn errors of metabolism. McGraw-Hill Companies Medical, New York
Sinha I, Jones L, Smyth RL, Williamson PR (2008) A systematic review of studies that aim to determine which outcomes to measure in clinical trials in children. PLoS Med 5:e96
Sonnander K (1987) Parental developmental assessment of 18-month-old children: reliability and predictive value. Dev Med Child Neurol 29:351–362
Statista (2013) Nettoeinkommen und verfügbares Nettoeinkommen privater Haushalte nach sozialer Stellung in Euro. Retrieved 20th of June, 2013, from http://de.statista.com/statistik/daten/studie/5742/umfrage/nettoeinkommen-und-verfuegbares-nettoeinkommen
Theunissen NC, Vogels TG, Koopman HM et al (1998) The proxy problem: child report versus parent report in health-related quality of life research. Qual Life Res 7:387–397
Waisbren SE, Albers S, Amato S et al (2003) Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290:2564–2572
Wallander JL, Varni JW (1998) Effects of pediatric chronic physical disorders on child and family adjustment. J Child Psychol Psychiatry 39:29–46
Wilcken B, Haas M, Joy P et al (2009) Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 124:e241–e248
Wilcken B, Haas M, Joy P et al (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369:37–42
World Health Organization (1997) Division of Mental Health and prevention of substance abuse. WHOQOL. Measuring Quality of Life. Retrieved 8 January 2013, from http://www.who.int/mental_health/media/68.pdf
Acknowledgements
The authors are deeply indebted to all patients and their families for their participation and trust.
Many thanks to all the colleagues who participated throughout the years and provided information on their patients: D. Haas, F. Hörster, S. Kölker, M. Morath, C. Pontes (Heidelberg), M. Baumgartner (Zürich), J. Hennermann (Berlin), M. Leichsenring (Ulm), E. Mengel (Mainz), T. Rohrer (Homburg/Saar), K.O. Schwab, U. Tacke (Freiburg), F.K. Trefz (Reutlingen), U. Wendel, E. Thimm (Düsseldorf).
This extensive study over more than a decade was only made possible by the continuous and generous support of the Dietmar Hopp Foundation, St. Leon-Rot.
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This study was supported by the Dietmar Hopp Foundation, St. Leon–Rot, Germany. The authors confirm independence from the sponsor; the content of the article has not been influenced by the sponsor.
G. Gramer was supported by a research scholarship (Olympia Morata programme) of the Medical faculty of the University of Heidelberg.
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Communicated by: Piero Rinaldo
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Gramer, G., Haege, G., Glahn, E.M. et al. Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life. J Inherit Metab Dis 37, 189–195 (2014). https://doi.org/10.1007/s10545-013-9639-6
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DOI: https://doi.org/10.1007/s10545-013-9639-6