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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

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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. / Gramer, Gwendolyn; Haege, Gisela; Glahn, Esther M; Hoffmann, Georg F; Lindner, Martin; Burgard, Peter.

In: J INHERIT METAB DIS, Vol. 37, No. 2, 03.2014, p. 189-95.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Gramer, G, Haege, G, Glahn, EM, Hoffmann, GF, Lindner, M & Burgard, P 2014, '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, vol. 37, no. 2, pp. 189-95. https://doi.org/10.1007/s10545-013-9639-6

APA

Gramer, G., Haege, G., Glahn, E. M., Hoffmann, G. F., Lindner, M., & Burgard, P. (2014). 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(2), 189-95. https://doi.org/10.1007/s10545-013-9639-6

Vancouver

Gramer G, Haege G, Glahn EM, Hoffmann GF, Lindner M, Burgard P. 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. 2014 Mar;37(2):189-95. https://doi.org/10.1007/s10545-013-9639-6

Bibtex

@article{92a6c2f8378749369599c11f8ceeb3a9,
title = "Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life",
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.",
keywords = "Child, Child Development/physiology, Child, Preschool, Family/psychology, Female, Humans, Infant, Infant, Newborn, Male, Metabolic Diseases/physiopathology, Neonatal Screening/methods, Parents/psychology, Quality of Life, Social Support, Surveys and Questionnaires",
author = "Gwendolyn Gramer and Gisela Haege and Glahn, {Esther M} and Hoffmann, {Georg F} and Martin Lindner and Peter Burgard",
year = "2014",
month = mar,
doi = "10.1007/s10545-013-9639-6",
language = "English",
volume = "37",
pages = "189--95",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "2",

}

RIS

TY - JOUR

T1 - Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life

AU - Gramer, Gwendolyn

AU - Haege, Gisela

AU - Glahn, Esther M

AU - Hoffmann, Georg F

AU - Lindner, Martin

AU - Burgard, Peter

PY - 2014/3

Y1 - 2014/3

N2 - 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.

AB - 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.

KW - Child

KW - Child Development/physiology

KW - Child, Preschool

KW - Family/psychology

KW - Female

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Metabolic Diseases/physiopathology

KW - Neonatal Screening/methods

KW - Parents/psychology

KW - Quality of Life

KW - Social Support

KW - Surveys and Questionnaires

U2 - 10.1007/s10545-013-9639-6

DO - 10.1007/s10545-013-9639-6

M3 - SCORING: Journal article

C2 - 23949009

VL - 37

SP - 189

EP - 195

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 2

ER -