Related Experiment Video
Updated: Sep 17, 2025
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
Published on: March 2, 2018
Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic
Karen J Low1,2, , Georgia Treneman-Evans1
1Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.
Background:
A genetic neurodevelopmental disorder (GND) impacts all aspects of a child's and family's life. GNDs are rare; most have limited natural history data. We aimed to understand the impacts, obstacles, information barriers and coping strategies developed through parents' experience of receiving and living with a child's diagnosis.
Design And Participants:
This analysis is part of the UK multicentre observational study of children with rare GNDs (GenROC). We conducted 17 semi-structured online interviews with parents of children with GNDs (aged 0-15 years) from November 2023 to March 2024. Data were analysed following the principles of thematic analysis.
Results:
We identified five themes. (1) Impact on the family around a genetic diagnosis: Distress begins well before a diagnosis is received; there is an impact upon the receipt itself and the ongoing impact on the family thereafter. (2) Impact of uncertainty, lack of data and 'rareness'. The experience of parenting when so little is known about your child's condition. (3) Relationships with health professionals. Positive where parents are empowered and feel part of the team; negative where parents feel not heard/believed due to a professional lack of expertise/understanding. (4) Parent mental health: GNDs can be a significant burden to family life. The need to advocate for services has a negative impact. Feelings of isolation through rareness. (5) Coping strategies and factors that help: Support/Facebook groups are considered highly beneficial. Parents develop new positive identities, including that of advocate, professional and educator.
Conclusions:
GNDs represent a major challenge for families, clinicians and service providers. Distressed parents are struggling to cope with challenges and suffer from poor mental health. Psychosocial support, better signposting and health professional education may help.
Patient Contribution:
Patient Participant Involvement group (comprising five mothers and one father of children with varying GNDs, one young person with a GND, and one genetics family charity representative) contributed to topic guide development and methodology and provided feedback on results.
More Related Videos
05:44Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
Published on: May 17, 2024
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:29Intellectual Disability
01:28Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
01:23Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
01:21Barriers to Effective Communication II
Cultural barriers:
Differences in values, beliefs, religion, knowledge, and tradition can significantly impact communication. Awareness of nonverbal cues is critical, especially when conversing with a patient from a different culture. What appears appropriate in one culture may be inappropriate in another.
Semantic barriers:
As a result of their tendency to use...
01:28Disorders of the Nervous Tissue
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...