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Updated: Jun 26, 2025
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Published on: August 3, 2018
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol
Karen Jaqueline Low1,2, Amy Watford2, Peter Blair3
1Centre for Academic Child Health, University of Bristol, Bristol, UK karen.low@bristol.ac.uk.
Insights
This study investigates growth patterns and long-term outcomes in children with rare neurodevelopmental genetic syndromes. Findings will help clinicians manage care and guide families of affected children.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Approximately 2000 UK children annually are born with neurodevelopmental genetic syndromes, often presenting with unknown growth patterns and phenotypes.
- Existing knowledge gaps in long-term medical and educational outcomes for these children lead parents to self-collect data via social media.
- There is a critical need for comprehensive data to support clinical decision-making and improve patient care.
Purpose of the Study:
- To identify growth patterns, developmental profiles, and phenotypes in children with specified genetic variants.
- To provide data on long-term medical and educational outcomes for children with neurodevelopmental genetic syndromes.
- To guide clinical management, including symptom investigation, monitoring, treatment, and diagnostic processes.
Main Methods:
- An observational, multicentre cohort study recruiting children aged 6 months to 16 years with pathogenic genetic variants.
- Data collection via parent questionnaires at baseline and 1 year, clinician proformas, and qualitative interviews.
- Generation of growth and developmental milestone curves using the DECIPHER website for genetic syndromes with at least 5 affected children.
Main Results:
- Growth and developmental curves will be generated for at least 10 distinct genetic syndrome groups.
- Long-term medical and educational outcomes will be documented.
- Data will be synthesized to inform clinical practice.
Conclusions:
- This research aims to fill critical evidence gaps in the care of children with neurodevelopmental genetic syndromes.
- Findings will provide essential data for clinicians to optimize patient management and diagnosis.
- The study will empower families with better-understood outcomes and care pathways.
Introduction:
Around 2000 children are born in the UK per year with a neurodevelopmental genetic syndrome with significantly increased morbidity and mortality. Often little is known about expected growth and phenotypes in these children. Parents have responded by setting up social media groups to generate data themselves. Given the significant clinical evidence gaps, this research will attempt to identify growth patterns, developmental profiles and phenotypes, providing data on long-term medical and educational outcomes. This will guide clinicians when to investigate, monitor or treat symptoms and when to search for additional or alternative diagnoses.
Methods And Analysis:
This is an observational, multicentre cohort study recruiting between March 2023 and February 2026. Children aged 6 months up to 16 years with a pathogenic or likely pathogenic variant in a specified gene will be eligible. Children will be identified through the National Health Service and via self-recruitment. Parents or carers will complete a questionnaire at baseline and again 1 year after recruitment. The named clinician (in most cases a clinical geneticist) will complete a clinical proforma which will provide data from their most recent clinical assessment. Qualitative interviews will be undertaken with a subset of parents partway through the study. Growth and developmental milestone curves will be generated through the DECIPHER website (https://deciphergenomics.org) where 5 or more children have the same genetic syndrome (at least 10 groups expected).
Ethics And Dissemination:
The results will be presented at national and international conferences concerning the care of children with genetic syndromes. Results will also be submitted for peer review and publication.
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