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How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a
Karen Jaqueline Low1,2, Huw Day3, Mevmi Lasanya Kodippuli Thanthilla4
1Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK karen.low@bristol.ac.uk.
Insights
Parent-reported data captures common childhood issues, while clinician-reported data offers detailed clinical phenotypes for neurodevelopmental disorders. Understanding these differences is crucial for research and data interpretation.
Area of Science:
- Genetics and genomics
- Clinical phenotyping
- Data science in healthcare
Background:
- Parent/patient-reported data (PRD) offers accessible phenotypic information for monogenic neurodevelopmental disorders.
- The concordance between PRD and clinical data requires further investigation.
Purpose of the Study:
- To compare the quantity, detail, and similarity of parent-reported data (PRD) versus clinician-reported data (CRD) in children with neurodevelopmental disorders.
- To assess data concordance across different body systems, genes, and gene groups.
Main Methods:
- The GenROC study involved 547 children with parallel PRD (web questionnaires) and CRD (Human Phenotype Ontology proformas).
- Data sources were compared per participant by system, gene, and gene group, analyzing quantity, detail, and similarity.
- Similarity scores were calculated overall and for specific systems and genes.
Main Results:
- PRD yielded more terms for dental, gastroenterology, immunology, respiratory systems, and vision.
- CRD provided greater detail for most gene subgroups, combined systems, and neurology.
- Overall similarity scores were low (mean 0.38), with highest similarity in cardiac data (mean 0.74) and lowest in Ear/Nose/Throat (ENT) (mean 0.34).
- Clinician-reported data (CRD) showed higher similarity to published syndromic phenotypes.
Conclusions:
- Parents report common childhood conditions, whereas clinicians describe specific clinical features like brain morphology and seizures.
- Recognizing the distinct strengths and limitations of PRD and CRD is essential for designing studies and interpreting data in neurodevelopmental disorders.
- This understanding aids in optimizing the use of diverse phenotypic datasets.
Background:
Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear.
Methods:
In the GenROC study, 547 children (mean age 7.6 years, balanced sex ratio) had parallel parent-reported web questionnaires and clinician-reported (CRD) Human Phenotype Ontology proformas. We compared the two sources per participant by system, gene and gene group and overall for quantity, detail and similarity.
Results:
547 probands were analysed ranging in age from infancy to 16 years (mean 7.6) with similar gender distribution. PRD provided more terms for dental, gastroenterology, immunology and respiratory systems and for vision (p<0.001 for all) and to a lesser degree for cardiac (p=0.0012). CRD provides more detail than PRD for most gene subgroups, combined systems and for neurology (p<0.001). Similarity scores were low overall per participant (mean 0.38 for combined). Similarity scores were highest for cardiac (mean 0.74) and lowest for Ear/Nose/Throat(ENT) (mean 0.34). There was minimal difference in similarity scores across gene groups or between the top 10 genes-scaffold adaptor gene groups had the highest (mean 0.43) as did STXBP1 (mean 0.5) and CACNA1A (0.49). CRD is more similar to published syndrome phenotypes for syndromic genes.
Conclusions:
Parents reported more common childhood phenotypes, such as asthma and dental issues, while clinicians provided clinical phenotype descriptors, such as brain morphology and seizure semiology. It is important to understand the differences when designing studies and using datasets to appreciate their strengths and limitations.
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