Poster Presentation International Congress on Neuronal Ceroid Lipofuscinoses 2025

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom (#5)

Joanna Nightingale 1 , Sara Mole 2 , Paul Gissen 3 , Shannon Nordstrom 4 , Suzanne Wait 4 , Louise Allen 5 , Mathilda Antonini 3 , Liz Brownnutt 1 , Richard Brown 5 , Barbara Cole 1 , Frances Gibbon 6 , Robert Henderson 2 3 7 , Sarah Kenrick 1 , Zlatko Sisic 1 , Bob Thompson 1
  1. BDFA, Shipley, WEST YORKSHIRE, United Kingdom
  2. UCL Great Ormond Street Institute of Child Health, London, UK
  3. Great Ormond Street Hospital for Children (GOSH), London, United Kingdom
  4. The Health Policy Partnership, London, United Kingdom
  5. Cambridge University Hospitals, Cambridge, Cambridgeshire, United Kingdom
  6. Noah's Ark Children's Hospital for Wales, , Cardiff, Glamorgan, Wales
  7. Moorfields Eye Hospital, London, United Kingdom

Objectives

Batten disease is the common name for a group of 13 rare inherited disorders causing a progressive, terminal neurodegenerative condition. Symptoms include a debilitating combination of dementia, epileptic seizures, motor decline and vision loss causing profound disability and early death.

The objectives of this study were to investigate family experiences with two Batten disease types, CLN2 and CLN3, and the impact on the family unit. The evidence generated will be used to improve early diagnosis and initiation of supportive services essential to preserve quality of life.

 

Methods

A mixed-method research study was conducted in the UK to understand family experiences in CLN2 and CLN3 Batten disease. A mix of voluntary and purposive sampling was used to recruit families for the study. Following an initial literature review, a guide was created, in conjunction with experts in the field, for the in-depth qualitative interviews. Mostly open-ended questions were used. Interview data were analysed using a thematic analysis to derive and identify themes and patterns in the data collected.   

 

Results

Six overarching themes emerged from the analysis: failure to recognise early symptoms resulting in frequent misdiagnoses and diagnostic delays; the shock of a Batten disease diagnosis; the demands of caring for complex and ever-changing needs; a constant battle to access appropriate and timely support services; the extensive impact on the unaffected sibling and the lack of support for them; and the all-encompassing impact on the family. These themes followed similar patterns across the two types of Batten disease investigated.

 

Conclusions

This study found that the impact of a Batten disease diagnosis profoundly effects all aspects family life. More needs to be done to ensure Batten disease is diagnosed early and timely local support services are made available to protect quality of life for both the affected children and their families.

  1. Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom. Sara E. Mole, Paul Gissen, Shannon Nordstrom, Suzanne Wait, Louise Allen, Mathilda Antonini, Liz Brownnutt, Richard Brown, Barbara Cole, Frances Gibbon, Robert H. Henderson, Sarah Kenrick, Zlatko Sisic, Bob Thompson and Joanna Nightingale. Orphanet Journal of Rare Diseases (2025) 20:223 https://doi.org/10.1186/s13023-025-03747-8