Many Ghanaians not aware of Huntington’s Disease

Many Ghanaians are not particularly aware of neurodegenerative diseases. Neurodegenerative disease is an umbrella term for a range of conditions which mostly affect the neurons in the human brain.

It affects one’s body's activities such as balance, movement, talking, breathing, and heart function. It can be serious or life-threatening.

Most of them have no cure and is often managed by health professionals. Intervention often focuses on helping to improve symptoms, relieving pain, and increasing mobility.

Examples of neurodegenerative diseases are Multiple Sclerosis, Alzheimer’s disease, Parkinson’s Disease & Lewy Body Disease and Huntington’s Disease (HD).

Causes

HD is caused by a genetic defect on chromosome 4. This causes a part of DNA to occur many more times than it is supposed to. This defect is called a CAG repeat.

This section of a person’s DNA is normally repeated 10 to 28 times. Persons with HD, however, have it repeated 36 to 120 times. The gene is passed down through families.

There are adult-onset HD (from 30-40 years) and early-onset HD (childhood or teen age).

Symptoms

Huntington’s Disease (HD) is characterised by a combination of motor (movement), cognitive (thinking) and psychological (mood & emotional) symptoms.

It is progressive (gets worse over time) and has no cure as yet.

Intervention

Different assessments are used to diagnose HD by a team of professionals. These include neurological examination, neuropsychological testing, psychiatric evaluation, brain-imaging and function tests and genetic counselling and testing, among others.

To maximise the communication and swallowing potential of a person with HD, it is important to see a speech and language therapist (SLT) immediately after a diagnosis.

Early referral helps to support the person with HD and their families, caregivers and friends to manage the difficulties they are experiencing.

According to research about 78 to 93 per cent of people with HD experience speech difficulties. Their understanding is often intact.

HD causes speech changes such as hoarseness in voice, slurred words, inability to control the volume of speech and inappropriate pauses between words.

HD also causes changes in mood and personality which impact on a person’s communication skills. They may often appear easily distracted, apathetic, avoiding conversation, and fixated on certain issues, among others.

It is often helpful to speak slowly and to talk about one thing at a time when talking to a person with HD.

Reducing distractions during conversations also helps them to focus. To avoid stressful situations, offering them yes/no questions makes it easier for them to answer.

Using gestures and facial expressions can also be useful. At a certain stage of the disease, it might be helpful to use a communication aid (also known as Augmentative and Alternative Communication techniques, or AAC) such as pictures and sign language to help them express themselves.

The SLT will assess the speech, language, communication, cognition (sometimes) and swallowing of the person with HD and provide appropriate intervention. This can help them get a better quality of life.

The writer is a Speech and Language Therapist/Clinical Tutor, University of Ghana. E-mail: jobamp@hotmail.com