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Early testing for Huntington disease in children: pros and cons
Megan Toufexis1, Maria Gieron-Korthals
1Department of Psychiatry and Behavioral Medicine, University of South Florida, College of Medicine, Tampa, Florida, USA. mtoufexi@health.usf.edu
Insights
Premature genetic testing for Huntington disease in children can lead to significant medical and psychological challenges. Testing should only occur when symptoms are evident and other conditions are ruled out, with family support.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Huntington disease (HD) is a progressive neurodegenerative disorder.
- Juvenile Huntington disease (JHD) presents before age 20.
- Genetic testing for HD is available but carries significant ethical considerations, especially in minors.
Observation:
- This report details two cases of young children who underwent premature genetic testing for Huntington disease.
- The cases highlight the complex medical and psychological ramifications for both the child and their family.
- Premature testing in minors raises unique challenges compared to adult testing.
Findings:
- Early, pre-symptomatic testing in children can lead to adverse psychological outcomes and social difficulties.
- The benefits of early testing must be carefully weighed against the potential harms.
- Diagnosing JHD requires careful exclusion of other neurological conditions that mimic its symptoms.
Implications:
- Genetic testing for Huntington disease in children should be deferred until symptoms manifest and are progressive.
- A multidisciplinary team approach is crucial for comprehensive genetic counseling and support.
- Informed decision-making requires thorough education on the risks, benefits, and long-term consequences of testing for families.
Abstract:
We report 2 young children who are examples of the consequences of premature testing for Huntington disease. Premature testing of a child or fetus carries complex medical and psychological issues to both the child and the family that need to be considered and explored more than in an adult with Huntington disease. We suggest that a child at risk for juvenile Huntington disease not be tested until symptoms are progressive and consistent with the disease and all other mimickers are excluded. When testing is indicated, a multidisciplinary approach is essential to educate the family about the risks and benefits of testing and improve their coping skills when the final diagnosis is made.
