ArticleBMJ paediatrics open2024
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.
Article in BMJ paediatrics open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The psychological burden of nutritional treatment in inherited metabolic disorders: Navigating daily life.Molecular genetics and metabolism reports · 2026Article
- Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.European journal of pediatrics · 2026Article
- Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.European journal of human genetics : EJHG · 2026Article
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Authors and funding
13 authors.
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Abstract
backgroundReceiving communication of positivity for metabolic diseases at Expanded Newborn Screening can be extremely stressful for parents, both in case of false positive and true positive cases. However, little is known about the predictors of distress and differential impact on mothers and fathers.
methodsIn this longitudinal study, 169 fathers and 171 mothers referred to one of the Italian metabolic centres for communication of positivity completed a survey including General Health Questionnaire-12, Emotion Thermometers (measuring stress, anxiety, depression, anger and need for help), Impact of Event Scale-Revised, Multidimensional Scale of Perceived Social Support and Emotion Regulation Questionnaire. Perceived severity and control of the children's health were also assessed. The survey was completed in person after the first session at metabolic centres and online after 1, 3 and 6 months.
resultsNearly 80% of parents reported a clinical level of distress and anxiety after the communication of positivity, one-third of them reported post-traumatic symptoms and more than half of parents reported a need for help. After 6 months, there are still more than 30% of parents with a clinical level of distress and anxiety, 6% with post-traumatic symptoms and more than 20% who continue to express a need for help. No gender difference was reported and no differences emerged between pre-COVID-19 and post-COVID-19 periods for parental distress and post-traumatic symptoms.Social support, perceived severity and control of the child's health-but not gender or previous parental experience-predicted the post-traumatic symptoms at baseline while at 6 months the only significant predictor was perceived severity.
conclusionAdequate psychological support should be provided from the initial communication for both parents and for true positive, false positive and variants of uncertain significance/heterozygous carrier cases.
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