Huntington’s Disease

 

• What is Huntington’s disease?
• What are some signs or symptoms of Huntington’s disease?
• How is Huntington’s disease diagnosed?
• What treatments are available for people with Huntington’s disease?
• What can I do to help someone with Huntington’s disease communicate?
• How can I help someone with Huntington’s disease who is having swallowing problems?
• What other organizations have information about Huntington’s disease?

What is Huntington’s disease?

Huntington’s disease (HD) is a disorder of the brain disorder involving the progressive neurodegeneration which leads to motor, cognitive, and psychiatric symptoms. Troubles may develop in three different areas: motor control (movement); cognition (thinking); and behavior. When the centers in the brain responsible for motor or cognitive control are affected, muscle weakness or discoordination may occur which results in difficulties with speech and swallowing.  Problems with memory, sequencing, new learning ability, reasoning, and problem solving also develop.

What are some signs or symptoms of Huntington’s disease?

Communicative and cognitive issues are different for each individual. No two HD patients are exactly alike, although there may be some similarities. The following list reviews the issues that HD patients may experience at different stages of the disease. In many cases, the patient will experience the same areas of difficulty throughout the course of the disease, with severity varying from stage to stage.

Communication problems

• Muscle weakness, slowness, or incoordination of the lips, tongue, throat, and jaw (dysarthria)
• Disruption in programming and sequencing muscle movements for speech (apraxia)
• Diminished rate of control (talking too fast or too slowly)
• Poor voice quality (hoarse/harsh, breathy, volume too low or too high)
• Problems coordinating breathing and voice
• Word-finding difficulties
• Short length of utterance (person only responds with one or two words)
• Incorrect pronunciation of sounds
• Problems initiating conversation
• Getting “stuck” on certain words or phrases, repeating them often and at inappropriate times (perseveration)
• Repeating statements (echolalia)
• Difficulty monitoring pragmatic skills (turn-taking in conversation; reduced ability to maintain a topic or to switch topics appropriately)
• Inability to speak
• Difficulty beginning a word or sentence, with repetition of sounds (stuttering)
• Difficulty understanding information
• Difficulty reading and writing

Cognitive problems

• Diminished memory, immediate and short-term (long-term memory usually remains intact)
• Poor reasoning/judgment
• Reduced problem-solving ability
• Difficulty sequencing/organizing ideas
• Concentration problems/distractibility/short attention span
• New learning ability diminished
• Problems with numbers and mathematics computations

Swallowing problems

It is common for many HD patients to have difficulty swallowing. Statistic have shown that aspiration pneumonia is the number one cause of death among HD patients. This is the result of food or liquid entering the airway rather than esophagus. The collection in the lungs then becomes pneumonia.

Swallowing problems associated with HD include the following:

• Impulsivity while eating
• Difficulty controlling rate of food or liquid intake
• Difficulty chewing food
• Delayed swallow reflex (doesn’t t kick in even when food moves to the back of the throat)
• Holding food/liquid in the mouth
• Difficulty initiating a swallow
• Inability to swallow
• Incomplete swallows in which food or liquid is left in the mouth and/or throat
• Lack of coordination between swallowing process and breathing or speaking
• Need to swallow repeatedly for each bite/sip
• Chorea of the oral or pharyngeal muscles (tongue, lips, throat, esophagus)
• Drooling and/or spillage of food or liquid from the mouth

The following signs at mealtime may indicate swallowing problems:

• Coughing
• Choking
• Gurgly voice quality
• Wet sounding breathing
• Spillage of food and liquid from the mouth
• Frequent throat clearing
• Progressively slower rate of food intake
• Regurgitation of food after it has been swallowed*
• Food or liquid left in the mouth after swallowing
• Difficulty manipulating food or liquid in the mouth
• Frequent congestion*
• Frequent temperatures*
• Consistent or significant weight loss*

The symptoms marked with an asterisk (*) could indicate a serious medical condition that may be unrelated to HD and should be supervised by a physician. In general, HD patients may experience one or a combination of the above issues and should contact a physician and seek evaluation from a speech-language pathologist.

How is Huntington’s disease diagnosed?

Genetic testing can be conducted to determine if someone is carrying the HD gene before symptoms occur. HD is also diagnosed through neurological testing.

What treatments are available for people with Huntington’s disease?

There is currently no cure or way to stop the progressing of HD; however, medications are typically prescribed for symptom management.

The Speech Language Pathologist can help the patient at all stages of HD. SLP can assist with problem solving and strategy development in earlier stages. As the disease progresses, the SLP can then help preserve and maintain the patient’s communication and swallowing at the highest level possible. It is best for patients to seek professional involvement and intervention as early as possible.

Patients can learn strategies for compensation more successfully if started during early stages. These strategies can then be applied throughout the course of the disease.

The SLP can also help with evaluating the patient’s ability to use augmentative or alternative communication (AAC) devices and techniques. These can be something as simple as an electronic device to speak for the patient. The SLP can personalize the technique or method of communication after evaluation of the patient’s ability to use them.

For example, the SLP may tailor a word or picture board to the patient’s environment (such as a nursing home or private residence). The board may be flexible enough to be carried around. If the patient may benefit from an electronic device and seems willing and able to use it, the device can be made easily accessible.

The SLP can also evaluate the patient’s ability to swallow, and offer techniques such as change in diet, positioning, and education of the patient, family members, and caregivers. Special testing known as videofluoroscopy (or a modified barium swallow) can be done by an SLP and a radiologist. The test provides an inside view of the patient while swallowing food or liquid and can help determine the patient’s needs and develop strategies for safe swallowing.

What can I do to help someone with Huntington’s disease communicate?

HD patients typically prefer to communicate verbally for as long as possible, even if it eventually becomes difficult for them to be understood; however, alternative methods of communication are available. The SLP and family members can often help by encouraging the speaker to:

• Speak more slowly
• Say one word at a time
• Repeat the word or sentence when necessary
• Rephrase the sentence
• Exaggerate the sounds
• Speak louder (taking a deep breath before speaking)
• Describe what heor she is trying to say if he or she can’ t think of the word
• Indicate the first letter of the word
• Use gestures
• Keep sentences short
• Use alternative techniques such as word boards, alphabet boards, picture boards, or electronic devices

The following are some suggestions for the listener:

• Eliminate distractions (TV’s, radio, large groups of people)
• Keep questions/statements simple
• Ask one question at a time
• Use yes/no question format as much as possible
• Pay attention to gestures and facial expressions/changes
• If you do not understand what is being said, don’t pretend that you do. Ask for clarification, or repeat what you think was said in the form of a question, such as, “Did you say…?”
• Try to keep to familiar topics
• Encourage the speaker to use his/her specific compensatory strategies
• Allow enough time for the person to convey his/her message
• Most important, be patient with the speaker

There are other strategies to compensate for cognitive issues that can be applies in the home. The following are some examples:

Problem	Strategy
Poor orientation to time and place	Keep a large calendar visible. Display a large, visible clock. Post signs on walls stating location.
Diminished memory	Post a schedule of daily routine. Establish routines for all activities (e.g., place keys or glasses in same place daily). Label cabinets and drawers. Keep a memory log book like a diary in which the person with HD can write down and refer back to what he/she has done, with whom, and when. Keep an appointment book for social events, doctor’s visits, and other dates and occasions to be remembered.
Reduced problem-solving ability	The person with HD should discuss with a family member possible problems that could occur in the home. Solutions or steps to be followed should be anticipated, written down, and kept in an obvious place. Follow these set guidelines for problem solving.

These are just a few examples of how a person experiencing cognitive problems can make life easier at home. An SLP can provide assessment, guidance, and further suggestions on the use of compensatory strategies.

How can I help someone with Huntington’s disease who is having swallowing problems?

You can help by following these suggestions:

• Provide small bites and sips.
• Alternate bites with sips to help wash down the food.
• Make sure that the person is sitting as upright as possible; place pillow behind his or her head/neck to prevent head tilting backward.
• Control rate of intake, allowing enough time for previous bite/sip to be cleared. Look for rise and fall of larynx (Adam’s apple), or lightly place two fingers on the person’ s Adam’s apple to feel it rise and fall, as a possible signal that swallowing is complete.
• Make sure the person swallows twice for every bite or sip to clear residuals from the mouth.
• Use gravies, sauces, and condiments with dry foods or solids whenever possible.
• Crush medications in applesauce if a person is on a pureed (blenderized) diet.
• Avoid distractions during oral intake.
• Do not permit talking with food in the mouth.
• If the person is coughing a lot or showing other signs of swallowing problems, begin giving thicker liquids such as nectars, shakes, and tomato juice. Also, give blenderized food until the person can be seen by the physician and/or speech-language pathologist. Further recommendations would follow a complete assessment.
• Tell the person to produce a strong cough after each swallow (if voice sounds gurgly or wet).
• Limit quantity of food placed on plate or liquid in cup at one time.

If difficulty in swallowing is severe, the patient may require a feeding tube or other alternative means of nutrition and hydration.

What other organizations have information about Huntington’s disease?

Please be aware that the following list is not comprehensive, and does not necessarily imply endorsement from Premier Therapy Associates as to its content.

• Huntington’s Disease Society of America
• Movement Disorder Society
• National Institute of Neurological Disorders and Stroke HD Information Page

See Also:

Huntington’s Disease: Causes and Number