Based on a brochure developed by Lynn Rhoades, MS, CCC-SLP, for the Huntington's Disease Society of America with financial support of the American Speech-Language-Hearing Association.
What is Huntington's disease?
Huntington's disease (HD) is a brain disorder in which there is progressive neurodegeneration leading to motor, cognitive, and psychiatric symptoms. Problems may develop in the following three areas: motor control (movement); cognition (thinking); and behavior. Speech and swallowing problems occur when the centers of motor or cognitive control are affected that cause muscle weakness or discoordination (chorea). Problems with memory, sequencing, new learning ability, reasoning, and problem solving also develop.
What are some signs or symptoms of Huntington's disease?
Problems with communication and cognition vary in nature and severity from person to person. Although there are things that may appear similar, no two people with HD are exactly alike. The following list summarizes problems that people with HD may experience at different stages of the disease. In many cases, a person with HD will experience the same areas of difficulty throughout the course of the disease, with severity varying from stage to stage.
- 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
- 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 (also known as dysphagia) are common among people with HD. Statistics have repeatedly shown that the number one cause of death among persons with HD is aspiration pneumonia. This can occur when food or liquid enters the airway rather than the esophagus during eating or drinking, and then forms a collection in the lung that can become 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:
- 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*
Signs marked with an asterisk (*) could be indicative of a serious, and possibly unrelated, medical condition and should be monitored by a physician. In general, if a person with HD experiences any one or a combination of the above problems, he or she should contact a physician and seek out a speech-language pathologist (SLP) for evaluation.
How is Huntington's disease diagnosed?
HD is diagnosed through genetic and other neurological testing. Tests can be done before a person has any symptoms to determine if they are carrying the HD gene.
What treatments are available for people with Huntington's disease?
Medications are typically prescribed by the person's doctor to manage symptoms. At this time, there is no cure or way to stop the progression of HD.
The SLP can be helpful at all stages of the disease. In early stages, he or she can assist with problem solving and developing strategies to help persons with HD compensate for some of the problems they might be experiencing. As the disease progresses, the role of the SLP evolves into helping preserve and maintain the person's highest level of communication and swallowing. Early intervention and involvement with professionals is best.
People can learn compensatory strategies more successfully during the early stages of HD and then apply them throughout the course of the disease.
The SLP can also evaluate a person's ability to use augmentative or alternative communication (AAC) devices and techniques, which can be as simple as an electronic device that speaks for the person. After determining a person's level of ability for using such techniques, the SLP begins to focus on personalizing the technique or method of communication.
For example, the SLP might work with a person with HD and his or her family to create a word/picture board tailored to the person's environment (whether it be a nursing home or private residence) and flexible enough to be carried around. If the person may benefit from an electronic device and appears motivated to use one, then the device can be made easily accessible.
The SLP can evaluate a person's swallowing function and make recommendations that involve positioning issues, feeding techniques, diet consistency changes, and education of the person with HD, family members, or caregivers. Special testing known as videofluoroscopy (or a modified barium swallow) can be done by an SLP and a radiologist to determine if a person is actually aspirating a particular consistency. This test provides an inside view of a person in the act of swallowing food or liquid and can be a useful tool in developing strategies for safe swallowing.
What can I do to help someone with Huntington's disease communicate?
Although alternative methods of communication are available, people with HD generally prefer to attempt verbal communication for as long as possible, even if their speech becomes hard to understand. 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 also compensatory strategies for cognitive problems that can be implemented in the home. The following are some examples:
|Poor orientation to time and place
- Keep a large calendar visible.
- Display a large, visible clock.
- Post signs on walls stating location.
- 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 swallowing problems are severe, the person with HD may require alternative means of nutrition and hydration (e.g., tube feeding or intravenous feeding).
What other organizations have information about Huntington's disease?
This list is not exhaustive, and inclusion does not imply endorsement of the organization or the content of the Web site by ASHA.
What causes Huntington's disease?
Huntington's disease (HD) is hereditary. Children of a person with HD have a 50/50 chance of inheriting and ultimately developing the disease.