Huntington’s Disease is a rare movement disorder that affects approximately 300,000 to 600,000 people worldwide. It is a hereditary condition passed from parent to child, with a 50% chance that the child will inherit the mutated HTT gene. The key to the mutation of this gene, which causes the disease’s symptoms, is the expansion of the CAG (cytosine–adenine–guanine) DNA sequence. In a healthy gene, sequences can be repeated anywhere from 10 to 35 times. With Huntington’s, the sequence is repeated more than 36 times, creating an abnormal version of the Huntington protein, producing toxic effects in the brain that control movement, thinking, and behavior.
For the children of parents born with Juvenile-onset Huntington’s disease (JHD), the severity of the disease increases because the amount of repeat expansion of CAG is greater in number than in an adult, with nearly 100% of the expansions inherited from the father. The number of individuals born with this mutation worldwide is between 15,000 and 60,000 children of those families that pass along the mutation. Because of the over-aggressive gene expansion in JHD, there is a faster progression of the disease, with a shorter disease duration, lasting 8 to 12 years after the onset of JHD.
Physical symptoms of JHD look very similar to having a Parkinson’s-like disorder with rigidity, slow movements (bradykinesia), Dystonia (abnormal postures), balance problems, and falls. Neurological symptoms in children can include seizures, speech problems, and difficulties swallowing. Other neurological symptoms include declining memory and difficulties with learning. Children may be more impulsive in thought or in activities, experience mood swings, personality changes, and suffer from depression and anxiety.
Like many children with a disability in a school setting, they are supported by an Individualized Education Plan (IEP) to help them function in an everyday educational setting with learning tailored to them. Receiving speech, occupational, and physical therapy, and additional support designed by parents, teachers, therapists, neurologists, and school staff, providing modified school schedules, reduced schoolwork, and even extra time on tests if needed. Behavioral & emotional support can be provided with quiet spaces and “cool down” areas when children experience symptoms that can be disruptive to others in a classroom environment. Because of the cognitive decline that patients suffer and the progressiveness of the disease, school plans must be frequently updated, making flexibility and collaboration essential to helping students stay engaged and supported throughout their education. Team-based approaches can be very successful in helping children with the disease have a positive educational experience.
JHD is often misdiagnosed as ADHD, Autism spectrum disorder, other behavioral disorders, and Epilepsy (if the child experiences seizures early in life). Diagnosis of JHD is a complex procedure; genetic testing in children raises ethical concerns and is typically reserved for those already showing symptoms. Some medical organizations recommended against predictive testing, arguing that it removes their right to choose later on as they get older. Some organizations, like the College of Medical Genetics and Genomics, support testing only when it provides a direct medical benefit during childhood. The American Academy of Pediatrics states that children should not be tested for adult-onset genetic conditions unless early treatment is available and emphasizes protecting the child’s future autonomy and psychological well-being. The European Society of Human Genetics strongly discourages predictive testing in minors to preserve the child’s right to decide later in life. The Huntington’s Disease Society of America specifically advises that predictive testing should be deferred until a person reaches the age of 18 and only when symptoms suggest that JHD could be present.
Reasons given to let an individual choose include the potential psychological impact, the truth that there isn’t currently isn’t a cure for Huntington’s, leaving that person no real medical benefit to pursue. The risk of insurance discrimination and a social stigma of having the disease by people who are unaware of what Huntington’s disease is, with the individual facing harsh criticism. Currently, anyone diagnosed with Huntington’s disease is facing a death sentence with no cure, though research continues to look for ways to extend life for those with the disease and make breakthroughs. For children, these very adult scenarios can pose emotional and developmental challenges, placing a burden on them long before they can fully understand or cope with what the diagnosis means and the future that currently awaits them.
