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Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

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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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.

Compliance with Ethics Guidelines

Funding

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.

Conflict of interest

None.

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Correspondence to Peter Burgard.

Additional information

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

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