CLN2 Disease: Study Reveals Diagnostic Delays and Challenges
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Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Summary
This study looked at a rare genetic disorder called neuronal ceroid lipofuscinosis type 2 (CLN2 disease) in children in France. Researchers used a national database to find all diagnosed cases from January 2015 to December 2023. They identified 51 children with CLN2 disease, focusing on when they were diagnosed and the challenges they faced.
The findings showed that the incidence of CLN2 disease was about 1 case per 100,000 live births. Most children were diagnosed around the age of 5, but there was a significant delay of about 19 months from when symptoms first appeared to when they were diagnosed. Many of these children experienced serious health issues, including epilepsy and intellectual disabilities, and a quarter of them sadly passed away by the age of 9.
These results highlight the importance of recognizing CLN2 disease earlier to improve care for affected children and support their families. The study also points out that many children required emergency and intensive care, showing the disease's severe impact. However, the study is limited to France and may not reflect the situation in other countries, so more research is needed to understand CLN2 disease globally.
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