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. 2025 Jan;48(1):e12784.
doi: 10.1002/jimd.12784. Epub 2024 Aug 27.

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

Elena Schnabel-Besson  1 , Sven F Garbade  1 , Florian Gleich  1 , Sarah C Grünert  2 , Johannes Krämer  3 , Eva Thimm  4 , Julia B Hennermann  5 , Peter Freisinger  6 , Peter Burgard  1 , Gwendolyn Gramer  1   7 , Marina A Morath  1 , A Tunç Tuncel  1 , Svenja Keßler  1 , Georg F Hoffmann  1 , Stefan Kölker  1 , Ulrike Mütze  1
Affiliations

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

Elena Schnabel-Besson et al. J Inherit Metab Dis. 2025 Jan.

Abstract

Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long-term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly investigated. The aim of this longitudinal questionnaire-based study on 369 families living with a child with an IMD was to investigate the psychosocial and financial burden following a true-positive NBS. The reported psychosocial burden differed between children and their parents, and was associated with the child's age, diagnosis, and treatment. At younger ages, parent-reported burden was higher for the parents than for the individual child, while it increased for children and decreased for parents as the child grew older. Furthermore, psychosocial burden increased if the child required a strict dietary treatment and was at risk of metabolic decompensation. Regardless of diagnosis and treatment, the developmental delay of their child independently increased the parental psychosocial burden. Financial burden was reported by 24% of all families, and was higher in low-income families and in families whose children required dietary treatment. In conclusion, a substantial psychosocial and financial burden was revealed for children and their families after true-positive NBS. Since this burden is likely to have a negative impact on the long-term individual health benefits of NBS, this study underlines the importance of regularly assessing the psychosocial and financial needs of these families.

Keywords: financial burden; inherited metabolic disease; neonatal screening; newborn screening; psychosocial burden; psychosocial stress.

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Conflict of interest statement

Stefan Kölker and Georg F. Hoffmann reported grants from the Dietmar Hopp Foundation (St Leon‐Rot, Germany) during the conduct of the study. Ulrike Mütze reported a grant from the Medical Faculty of Heidelberg University, during the conduct of the study. Sarah C. Grünert reported fees from Ultragenyx GmbH, Vitaflo GmbH, and Danone GmbH, outside the submitted work. Johannes Krämer reported personal fees from Biomarin and Sanofi, outside the submitted work. Julia B. Hennermann reported grants and fees from Sanofi, Takeda, Amicus, and Chiesi, grants from Biomarin, and fees from Immedica, outside the submitted work. Peter Freisinger, Gwendolyn Gramer, Elena Schnabel‐Besson, Sven F. Garbade, Eva Thimm, Peter Burgard, Marina A. Morath, A. Tunç Tuncel, Svenja Keßler, and Florian Gleich have nothing to disclose.

The authors confirm their independence from the sponsors; the study design and the content of the article have not been influenced by the sponsors.

Figures

FIGURE 1
FIGURE 1
Psychosocial burden is associated with child's age and differs between children and parents. Probability of none (blue), medium (yellow), and severe (red) psychosocial burden for affected children and their parents [95% credibility range; model according to approximate leave‐one‐out cross‐validation].
FIGURE 2
FIGURE 2
Parental psychosocial burden differs between different diagnoses. The severity of parental burden was calculated based on a score (no burden = 1, medium burden = 2, severe burden = 3) and averaged as mean over time. It differs between diagnoses with low severity for diseases without dietary treatment (BioD, MCADD, aIVA, aVLCADD) and high severity for diseases requiring a strict dietary treatment (PKU, Tyr 1) and composing a high risk for metabolic decompensation (MSUD, LCHADD/mTFPD) [95% credibility range; model according to approximate leave‐one‐out cross‐validation].
FIGURE 3
FIGURE 3
Necessity of diet is associated with higher burden. Probability of none (blue), medium (yellow), and severe (red) psychosocial burden for parents with or without necessary dietary treatment [95% credibility range; model according to approximate leave‐one‐out cross‐validation].
FIGURE 4
FIGURE 4
Parental psychosocial burden is associated with child's development and cognition. The severity of parental burden was calculated based on a score (no burden = 1, medium burden = 2, severe burden = 3) and averaged as mean over time. It differs between diagnoses and between children with age‐appropriate (blue) and delayed (red) development [95% credibility range; model according to approximate leave‐one‐out cross‐validation].
FIGURE 5
FIGURE 5
Financial burden is associated with family net income and diet. The probability of financial burden is associated with family net income and the necessity of a dietary treatment requirement. Net family income was classified to three categories and was adapted during the conduct of the study due to inflation, lastly: low income (<2000 €; red), medium income (2000–3500 €; yellow), and high income (> 3500€; blue) [95% credibility range; model according to approximate leave‐one‐out cross‐validation].
FIGURE 6
FIGURE 6
Impact of child's diseases on maternal (red) and paternal (blue) career prospects. Mothers report a higher negative influence of their child's disease on their professional life as fathers [95% credibility range; model according to approximate leave‐one‐out cross‐validation].
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