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, Jahrgang 37, Nr. 2, 03.2014, S. 189-95.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -