By Thérèse Botez-Marquard

“What is a neuropsychologist?”, one often asks this question and with reason.

The definition can be summarized thus:

Human neuropsychology is the study of neurological mechanisms (anatomical, physiological and neurochemical) which underlie human behaviour. The discipline is based on a systematic analysis of consecutive behavioural troubles to the alterations of the activity of the normal brain by the disease (degenerative, inflammatory, viral, intoxication, etc.), the damage (stroke, tumour, skull trauma, etc.) or an alteration (removal of a tumour or brain tissue). (Reference: M. I. Botez, Clinical neuropsychologist and behavioural neurology, PUM and Masson, 1987)

The clinical neuropsychologist has for his (her) task to measure and to analyze in humans the changes in their intellectual, sensorial, mnemonic (memory), attentive and executive (anticipation, planning elaboration of mental strategies) as well as changes in personality which can be manifested following a brain problem.

As for the neurology of behaviour, it goes back to the beginning of medical science (Egypt 2500 – 3000 before Jesus Christ) and gives evidence of the practice of autopsies of the skull and of trepidation suggesting the recognition of the links between the brain and behaviour. It is behavioural neurology which gave birth to clinical neuropsychology and to experimental neuropsychology at the beginning of the 20th century. Behavioural neurology is an approach which takes place in general at the bedside of the patient and which studies individual cases by organizing test situations which allow one to distinguish the abnormal deviations from the normal functioning. This type of test is given most of the time by the neurologist or the neuropsychiatrist.

The Ataxia Clinic at the Hôtel-Dieu of Montreal

In the hospital environment, it is the attending physician, that is to say the neurologist, who requests the neuropsychological assessment. The latter has as its goal:

  • to establish in an objective manner with standard tests, a neuropsychological profile of the sensory-motor and cognitive abilities as well as a profile of affect;
  • to identify the deficits or potential sensory-motor and cognitive symptoms;
  • to make clear the stability or the evolution of the disease. The neuropsychological assessment can, in fact, be repeated, especially if there is reason to believe that the cognitive functions are deteriorating.

The assessment of cognitive functions in ataxic patients (Friedreich, Charlevoix-Saguenay, and the SCA 2, 3, 4, 6, 8 etc.)allows a better understanding of the functions of the cerebellum in the modulation of neuronal projections toward the encephalon and the cortex of the brain. Formerly, it was believed that the function of the cerebellum was limited to the motor functions and balance. Since then studies of the cerebellum benefited from an unbelievable scientific development and continue today to display the cerebellar mechanisms which intervene with the emotions and cognitive functions.

At our ataxic clinic, the neuropsychological assessment helps to qualify the different symptoms and to demonstrate the stability or the evolution of the disease.

I would like to proclaim, loud and clear, that it is thanks to the ataxic patients who participated in these studies with enthusiasm and curiosity, here and elsewhere in the world, that science has progressed so much in this field.

Today great efforts are exhibited in different research centres for advancement in regards to medication and genetics.

One must not fail to mention the exemplary efforts which have been deployed as regards to the taking charge of ataxic patients (here in Montreal: Lucie-Bruneau Rehabilitation Centre and Hôpital Marie-Enfant; and of course elsewhere).

The neuropsychologist and his role with ataxic patients

The neuropsychologist has first of all the privilege and the duty to establish a relationship of confidence with the patient. One also brings along a primordial interest in the emotions of the person who is consulting him, his well-being, his behavioural troubles reported by the patient or his entourage and which are often secondary to the situation in which the patient finds himself. The neuropsychologist can hereby also be brought to intervene as for:

  • the misunderstanding of his entourage (his language being difficult to understand, the slowness of his movements);
  • the patient’s continual frustration since he is continually confronted with his limitations;
  • a depressive symptomology with potential suicidal ideas, but which are only rarely realized;
  • reproaches which are felt or formulated toward the parents, and which render relationships difficult.

The neuropsychologist can also easily become a listener of quality for the patient. He can furthermore intervene on the level of social services in order to elucidate the situation with the social worker, for example. He can also reply to the patient’s questions and inform him in a satisfactory way by inducing reasonable hopes, but not false hopes. One can learn to come to terms with the disease without really accepting it. Besides, who would accept it? Without doubt, no one. But we have observed over several years that the patients who continue to fight keep their head high, socialize and get instructed, and come out of it generally much better.

The parents of ataxic children, just as the brothers and sisters of ataxic adults, should also receive all the information necessary to understand what their young children or their close ones live. The neuropsychologist can intervene to fulfill this need of consultation; and eventually direct the persons toward the appropriate resources.

Permit me to close on a personal note since I have been working in the clinic for ataxic patients since 18 years and I hold these patients dear. I feel very privileged, having learned enormously on the personal, professional, and scientific levels and I continue to work in this clinic hoping that the young generation will soon take over from the neuropsychological point of view.

Neuropsychologist Thérèse Botez-Marquard answers your questions about ataxia.

Should we behave differently towards our child who has ataxia then we do towards our other children?

You should behave the same way towards all your children. Avoid overprotecting children with ataxia and ensure that siblings are aware of the physical limitations caused by the disease. Encourage a sense of pride among siblings for the affected brother or sister as well as sensitivity to his or her needs. All your children, affected or not, need you equally. Multiple counselling sessions for the whole family may be necessary to deal with the situation. At times, the objective opinion of a professional may be helpful.

Will my child suffer a loss of cognitive ability, memory or concentration; an increase in aggression or excitability; or an inability to be independent?

Ataxia is a degenerative disease; however, the speed at which it progresses is unknown. It develops differently in each person. Children with ataxia are not necessarily dependent, but in more severe cases, it would be advisable to consult a professional to maintain your moral and that of your child’s. Take one day at a time and be easy on yourself. Happy children are more resistant to disease than those who are sad and insecure. Children can also feel guilty.

What did we do wrong?

There is no reason to blame yourself; there is nothing you could have done differently. Don’t let yourself feel guilty as it will stop you from being positive. Your child needs you, your encouragement, your ability to enjoy life and especially your example that one can be happy despite the disease. This is critical to your child’s development. Although a positive attitude won’t heal the disease, your child will feel better. When necessary, be sensitive, but not overprotective. Help your child to understand his or her limitations as well as all possible alternatives. Everyone has limitations but they are different from one person to the next.

We have not been able to tell our friends and family the truth about this disease even though we have known the diagnosis for many months now.

This is a normal reaction. As a parent, once you have accepted the diagnosis and are doing your best to deal with it, it will be easier to talk about. Remember that there is nothing to be ashamed of; you are not responsible for the situation. You desire people’s empathy and not their pity. It’s normal to feel discouraged at times, especially as there is no cure for ataxia, at least for the moment. However, your child has the right to a happy childhood and family life regardless. This is your first priority. When you feel ready, you will be able to share your experience with those around you, but take your time.

My 15 year old daughter has just been diagnosed with Friedreich’s ataxia. As a parent, I’m very concerned, but she is indifferent. She sometimes loses her balance, but it doesn’t seem to bother her. She is not interested in learning about the disorder as she denies having it. Obviously I want to help her as much as possible. I would like to know if, given the degenerative nature of the disease, we should adapt our home to her future decreases in independence and should we talk to her about it first? (Applying to the government takes a minimum of three years)

This is a delicate situation. It’s completely understandable that this is distressing and causes you worry. Nonetheless, try to put yourself in her situation.

She is 15 years old, a teenager looking for her identity and dealing with all the difficulties of adolescence. She has just been diagnosed with a life-long degenerative disease that has little hope of a cure or improvement. She may be angry with you at times. This is a necessary phase that all afflicted children go through. Denial is often a natural response to the initial diagnosis – an instinctive reaction to gain more time. Give her the time she needs. Little by little she’ll learn to accept it. She may relapse or lash out against it, which is entirely understandable. As parents you also have your own process to go through.

Without imposing, help her to understand that you are there for her, ready to help her cross the difficult waters ahead. Encourage her to be proud of herself and reassure her that life is beautiful despite its challenges.

Modifying your house is not urgent. Speak to your neurologist. Having diagnosed the disease, he or she will have a better understanding of your daughter’s progression and therefore is the best person to advise you. Each case is different.

My immediate advice would be to show your daughter that she can confide in you and come to you at her own pace. Be patient. Know when to be there for her and when to leave her alone. It’s not easy but its worth trying.

My daughter has Friedreich’s ataxia and is very difficult to understand because she speaks so slowly. She tries so hard to articulate well in order to be understood that she forgets what she was trying to say. Do you have any tips that would help her finish her sentences?

Short sentences are the key. Your role is to repeat her sentence if she forgets what she meant to say. This is extremely frustrating for her. Remember, not only do you speak effortlessly and automatically, but your thoughts are expressed through your sentences simultaneously. This is not the case for your daughter. The effort it takes to articulate each word or even letters can often cause her to lose her train of thought. Don’t forget to congratulate her for short sentences.

Twice a week, I visit a woman who has ataxia. Although she can speak, she doesn’t; I think it exhausts her. I talked to her about seeing a speech therapist but she started to cry. Do you know why? Is this subject too sensitive for her? Should I not talk to her about it?

I find it very commendable that you are asking these questions. There are obviously many reasons that could cause such a reaction in someone living with ataxia.

  1. The ability to speak is reduced by dysarthria which renders speech progressively difficult to understand and leaves the speaker extremely humiliated and breathless.
  2. People with ataxia may feel timid about speaking – i.e. wanting to appear composed in front of a kind visitor who drops in twice a week, etc.

Keep in mind that ataxia is a heavy burden for the sufferer. I’m sure you’ve learned to convey silent gestures of empathy. Be patient, perhaps she would prefer that you to read her a book she’s interested in or play her favorite music. Unfortunately, there are some stages of dysarthria that are beyond the help of a speech therapist.

My parents are overprotective. This holds me back and stops me from connecting with others, and it infuriates me. I understand that I have ataxia and that it is degenerative. I’m more than aware of this and am trying to find ways to maintain my independence, but my parents are not helping with their worries and assumptions that I will have a dismal future. I feel hopeless and yet all I really want is to reach out beyond my limits. That being said, is this really their problem? Are they projecting their anxieties onto me? How can this be resolved?

Communicating your frustration to your parents would be the best thing to do. However, if that is not possible, ask for help from the CLSC and speak to a social worker about the issue and your expectations concerning your parents. The fact is your parents are concerned about your situation. It’s very worrying to have a child afflicted with a degenerative disease. Although they want to help and do the right thing, this dynamic can ultimately lead to a vicious circle. Often, best intentions are expressed through overprotection. All three of you need to evaluate the situation and look at what improvements can be made step by step in an effort to help you and your parents understand the needs of each, thus enabling a harmonious family life. Undoubtedly your parents want to see you progress and maintain your independence as long as possible. However, sometimes, it is best to put the clock right and make the necessary compromises. You need help to know your limitations which will at the same time help you find a mental and physical balance. You parents also need to see a professional for advice. This will give them the support they need to face these uncertainties.

I have met and fallen in love with a woman who has ataxia and I would like to live with her. I’ve researched the disorder, its progression, the needs involved, etc. Although we feel the same way about each other, she feels it will not work because of the planning challenges involved. Don’t all couples have problems of some sort? Isn’t this just a part of life? Is she unnecessarily pessimistic?

This is a challenging situation. I don’t know if you have health conditions yourself. Without a doubt, living with ataxia requires more planning and this can create problems. Every movement must be calculated, which can take time and periodically require assistance.

It’s better to start by building a strong relationship with your partner. This will also allow you not only to take care of her, see her often, take her out and help her through her daily activities, but also to share happy moments. Additionally, this will ensure that when the time comes to live together or share your lives in a manner that is suitable to your both, you are sure to have made the right decision. As long as the relationship is mutually respectful of each other’s needs, you can still share a loving relationship, even while living separately if that’s what you decide to do.

I have a friend who is 45 years old and has Friedreich’s ataxia. Will he become less expressive as he grows older? He always seems to be in a good mood but he smiles less.

A person diagnosed with Friedreich’s ataxia should not experience a loss in facial expression or emotion. Facial expressions may be less frequent when ataxia is associated with the extrapyramidal syndrome. However, in general, this syndrome does not affect Friedreich’s ataxia. Gently ask your friend if he is having a difficult time managing his life or if he feels depressed or anxious.

My son is 16 years old and has Friedreich’s ataxia. His walk is slightly affected, but he gets around without help. He refuses to acknowledge the disease or talk about it. He is becoming increasingly depressed. He is very pensive and isolates himself. I’m afraid to leave the house in case he does something regrettable. Am I overreacting?

Your fear is completely justified. Symptoms of depression must be taken seriously. Our experience shows that the majority of those diagnosed with the disease at a young age go though a phase of denial. In fact, they often consider taking their lives; they feel understandably unprepared to deal with the disorder. Accepting ataxia can be a long-term process. Anger, sadness and rebellion are common reactions. Your son will adjust gradually. Don’t give up, believe in him and help him to overcome this difficult period.

Parents, as the closest caregivers, are unwitting targets for the child’s or teenager’s anger at the disease. This is a normal reaction. If he refuses to talk, give him words of love and encouragement from time to time. Remind him that you love him, that you are there for him and that he can count on you to support him through the disease. Ensure he knows that your door is always open. Take the time to praise him and do special things for him, things he likes such as going on an outing, watching a movie or buying him a much-desired book. Be vigilant though, and as discretely as possible.

I am a 30 year old student with spinocerebellar ataxia (SCA 2). I use a walker. Initially, my situation didn’t really bother me because I was independent. However, I was shocked the day I heard my recorded voice during a school project. My voice was simply incomprehensible. Everyone around me recognized it and didn’t seem surprised. How is it that I never noticed my degeneration? I wonder if it is obvious when I walk as well. I freak out when I think about it. What can I do? I feel so humiliated.

You mention that you are using a walker which allows you to remain independent. That should be your focus: maintaining your independence. When it comes to your voice, remember that you don’t hear your voice the way others do. If your colleagues tell you they have difficulty understanding you because of your dysarthria, consulting a speech therapist will help. You will learn to better articulate and improve pronunciation. I think you should look into this option. Be proud of your daily achievements such as independently going to school. Congratulations!

I have Charlevoix-Saguenay spastic ataxia. I use a wheelchair and have a small pronunciation problem. I have completed a Bachelor’s degree in Sociology. Many people imply that I must have obtained my degree through pity, as if I had a cognitive disability! This is incredibly frustrating. These are nice people but because of their close-mindedness, I feel like avoiding them completely. Do you think this is the right thing to do?

People can be ignorant of medical issues. I empathize as I know the effort it must have taken to complete your B.A. in Sociology. I congratulate you and encourage you to persevere. Try not to be influenced by the comments or offensive glances of those who are thoughtless or ignorant. You have a choice, either you can take the time to explain your disease to these people or you can choose other more understanding and encouraging people with whom to share your time. Be comfortable with your decision and look after yourself first.

I’m 21 years old and have Friedreich’s ataxia. I’ve lost all self-esteem. Before, I was confident, enterprising and full of initiative. Now, I’m overwhelmed by my symptoms, which have appeared so quickly. I’m like a firefighter unable to put out all the fires. I feel like I’m missing the best years of my life. How can I regain my passion and drive?

Despite your diagnosis, you are only 21 and you have everything to look forward. You can’t deny that your life will be different from now on, but the important thing to remember is that your destiny is in your hands. I understand what you are going through and suggest that you take a look at your current situation to see if you or your abilities have changed. You can still be confident, enterprising and full of initiation while accepting your condition. Despite the disease, your life can be rich and fulfilling and people will be attracted to you. Courage, optimism, patience and self-acceptance will lead you back to your passion for life. Trust that you will rise up to the challenge.

I have had ataxia for approximately seven years. I always thought I had accepted the disease; however, my behaviour towards others is proving the contrary. The more my ataxia progresses, the more my activities requiring motor and social skills diminish and this frustrates me. I envy my friends and all active people. I love to talk about biking, hiking in the country, etc., but I don’t do any of these activities anymore. I must be boring them to death. I am thinking of avoiding them. Do you think that perhaps I never really accepted my ataxia?

Accepting a disease is a hurdle for most people. We never do. We don’t ask for the disease, nor do we want it. However, I always suggest to the ataxic patient to learn to cope with the disease.

That being said, the disease should not stop you from engaging in your social and physical activities while also respecting your limitations (wheelchair, etc.) Today, whether you are in a manual or electric wheelchair, you can do many things, even a hike in the country. Granted, access to these activities is not always perfect, but it’s getting better day by day. You are in the driver’s seat and can do it if you want to. Come to terms with your physical condition. Those who love you will not stop doing so because of your disease.

Not biking or doing activities with your friends who don’t have the disease does not make you boring. You can have rewarding experiences through activities that are adapted to your needs. Share your anecdotes with these friends. Getting out there will lead to new friends who will hike with you. Don’t distance yourself from your friends. To the contrary, they will appreciate your new hiking stories even if they are not hiking with you.

Paratransit is available to transport you and can be used for any type of excursion. Don’t become paralyzed by the word “accept.” Learn to live with ataxia thereby giving yourself the opportunity to lead a more peaceful life.

I have ataxia, use a wheelchair and am semi-autonomous. I do ask for help when I need it. People are kind and always respond. Why, though, do they always treat me as if I’m a ten year old child? I’m 40 years old. Is it pity? How can I make them understand that I find this attitude offensive?

Everybody needs help from time to time for various reasons. Allow me to play the devil’s advocate and ask you to take an objective look at yourself. How do you ask for help, with what tone? Could you ask differently?

There is surely something that is triggering a childlike response. If you are doing everything you should and people continue to adopt this attitude, you can politely tell them that you prefer to be treated as an adult. You can even ask them why they are treating you this way. That being said, remember that people often don’t realize when they are being insensitive.

Translated by Natasha Lewis