Sunday, January 15, 2012

Juvenile Huntington's Disease: Symptoms of a Deadly Condition

Huntington's disease is a genetic, incurable neurological disorder that leads to a movement disorder, dementia, and behaviour disturbance and affects one in 10,000 individuals, according to the Huntington's Disease Society of America's Juvenile Huntington's Disease Handbook.

Symptoms don't usually begin until mid-adulthood and less than 10 percent of individuals with the disease develop it before age 20.

However, Fred Taubman, spokesman for the Huntington's Disease Society of America, said that Juvenile Huntington's disease, which affects less than one in 100,000 , has only started being diagnosed over the past decade.

The adult diagnosis of Huntington's disease is usually made in a person who experiences memory or cognitive changes (dementia), and chorea (dance-like movements), often with behavioural or psychiatric problems such as depression, irritability, or mood swings.

That person also usually has a family history of the disease. However, symptoms may be a little different in a child, particularly those under 10.

Symptom groups
HDSA's handbook says that while there is no symptom or group of symptoms that are absolutely required for the diagnosis of Juvenile Huntington's disease, most affected children have several of the symptoms listed below at the time that the diagnosis is made. They include:
  • Positive family history of the disease, usually in the father - The reasons for the father being the more affected parents still remains unclear.
  • Stiffness of the legs
  • Clumsiness of the arms and legs
  • Changes in oral motor function
  • Chorea - This typically occurs more during adolescence.
  • Decline in cognitive function - Adolescents are more likely to lose attention and concentration, while younger children will begin to lose skills such as speech, reading, math and even throwing a ball.
  • Changes in behaviour and behavioural disturbances - In younger children, when aggressive or disruptive behaviour is related to the disease, changes/disturbances are usually seen along with changes in cognitive function and declining motor skills. However, behavioural problems in adolescents with the disease are more severe, including arson, theft, sexual promiscuity, physical or sexual abuse of younger siblings, severe drug or alcohol abuse, and depression with suicide attempts.
  • Seizures - Seizures are said to occur in about 25 percent of children with Juvenile Huntington's disease, and may be a presenting symptom. They may be of any type, and may or may not be severe. NB: The physician should never simply assume that seizures are caused by the disease. Any child experiencing seizures should have cerebral imaging studies and an electroencephalogram (EEG), as well as appropriate laboratory studies to rule out metabolic causes such as low blood sugar or drug or toxin ingestion.
There are different treatments for all the different symptoms listed, but one treatment rule underscores all: because Juvenile Huntington's disease progresses gradually over years, it remains important to attend to the child's general health needs, such as immunizations, dental care, and other age-appropriate evaluations.

That means every child with the disease should have a pediatrician or family doctor who takes care of those needs. As the disease progresses, a general physician can help a family watch for and treat the expected medical complications of HD.

Here are treatments for each of the symptoms that were previously outlined, minus genetic history, according to HSDA's handbook:
  • Stiffness of the legs - Medications such as Baclofen, Tizanidine, Diazepam (and other benzodiazepines) and Dantrolene. For more twisted-looking stiff muscles, Anticholinergic agents (Trihexyphenidyl, Benztropine), Carbidopa-levodopa, Dopamine agonists (Pramipexole, Ropinirole) and a Botulinum toxin (Botox) injection can be used. Physical and occupational therapy are also good options.
  • Clumsiness of the arms and legs - No medications improve control of voluntary movements, such as clumsiness, but both physical therapy and occupational therapy consultation are very useful.
  • Chorea - Medications such as dopamine-blocking agents (Haloperidol, Fluphenazine, Olanzapine, Risperidone), dopamine-depleting agents (Tetrabenazine, which is not yet approved in the US), benzodiazepines (Diazepam, Clonazepam, Lorazepam) and other agents and treatments such as Amantadine can be used.
  • Changes in oral motor function - speech language pathology
  • Decline in cognitive function - No medications have been proven to improve cognitive function in the disease, but many of the cognitive symptoms can be reduced using simple techniques such as breaking tasks down into step-by-step tasks or using checklists to help the child keep on track.
  • Changes in behaviour and behavioural disturbances - Depression is the most common change in behavior/behavioral disturbance. If left untreated, it can be life-threatening. Sometimes the family doctor or pediatrician will feel comfortable treating a mild depression with medications, while counseling may be helpful at other times. The two can even be used together. Severe depression requires a psychiatric specialist, and on rare occasions, even a young child may need to be hospitalized. Severely depressed individuals should be asked whether they have suicidal thoughts or plans.
  • Seizures - Children with the disease who have seizures usually have what HSDA calls generalised or myoclonic epilepsy, although other seizure types are possible, such as focal or partial complex seizures. Valproic acid and lamotrigine are considered first choices for treatment of myoclonic epilepsy, although other anticonvulsant drugs, such as Phenytoin, carbamazepine, levetiracetam, topiramate and zonisamidecan be used. Selection of a medication should be made carefully after evaluation is completed.
Read HSDA's handbook for more information about symptoms and treatment, including alternative therapies and medications to the ones outlined above.

Because Juvenile Huntington's disease is rare and differs from the typical adult-onset disease, the affected child's family and caregivers will more than likely face unique challenges, including finding financial, emotional and spiritual support and stability.

One of the biggest challenges, though, is providing an educational program that meets the child's changing needs, according to the handbook.

As soon as a child is diagnosed, it's suggested that the family contact the child's school and begins to develop an Individual Education Plan (IEP) for him or her. Although more common in the US it is still advisable to contact the education authorities to determine their policy on Juvenile Huntingdon's.

The US IEP is a plan that is reviewed and updated at least once a year, outlining how the school will address disabilities caused by the disease that interfere with the child's education.

U.S. public schools are required by law to provide for the education of all children through the high school level up to age 21. Because Juvenile Huntington's disease is a disease of many interrelated symptoms, including movement, cognitive and behavioral disabilities, an IEP may include adjustments or variations in academic instruction, physical education, meals, seating, transportation and behaviour control.

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